Evidence of separate karyotype evolutionary pathway in Euglossa orchid bees by cytogenetic analyses.

Science.gov (United States)

Fernandes, Anderson; Werneck, Hugo A; Pompolo, Silvia G; Lopes, Denilce M

2013-09-01

Euglossini are solitary bees considered important pollinators of many orchid species. Information regarding chromosome organization is available for only a small number of species in this group. In the present work, the species Euglossa townsendi and E. carolina were analyzed by cytogenetic techniques to collect information that may aid the understanding of their evolution and chromosomal organization. The chromosome number found was n = 21 for males and 2n = 42 for females in the two species. The distribution and amount of heterochromatin regions differed in the two species analyzed, where they were classified as “high” or “low” heterochromatin content, similarly to what has already been performed in social bee species of the genus Melipona. Banding patterns found in this study suggest that other mechanisms may have occurred in the karyotype evolution of this group, unlike those suggested for social bees and ants. Karyotype evolution of solitary bees appears to have occurred as an event separate from other hymenopterans and did not involve chromosome fissions and heterochromatin amplification.

Karyotype differentiation in Chromaphyosemion killifishes (Cyprinodontiformes, Nothobranchiidae)II: Cytogenetic and mitochondrial DNA analyses demostrate karyotype differentiation and its evolutionary direction in C. riggenbachi

Czech Academy of Sciences Publication Activity Database

Völker, M.; Sonnenberg, R.; Ráb, Petr; Kullmann, H.

2006-01-01

Roč. 115, 1 (2006), s. 70-83 ISSN 1424-8581 Grant - others:DFG Ku-1469/2-1; DFG Mi-649/2-1; DAAD D/03/44465 Institutional research plan: CEZ:AV0Z50450515 Keywords : karyotype differentiation Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.993, year: 2006

Karyotypic differences and evolutionary tendencies of some species ...

Indian Academy of Sciences (India)

The established karyotype differences have been helpful in clarifying the taxonomic position of these two species. The cytological analyses of other related clonal cultures suggest an evolutionary transition from S. pectinatus towards S. regularis through S. pectinatus f. regularis, which correlates with the morphological data ...

Interactive Karyotyping Training

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Ashwin Kotwaliwale

2013-01-01

Full Text Available Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities. Global short age of cytogenetic trainers and a time consuming training process makes Karyotyping training difficult. We have developed a web based interactive Karyotyping training tool, KaryoTutor©, that allows technologists to learn karyotyping in an interactive environment and aids the trainer in the training process. KaryoTutor©provides visual clues for identifying abnormal chromosomes, provides instant test scores and includes a reference library of ideograms,sample chromosome images and reference materials. Trainees are able to recursively work on a case till a satisfactory result is achieved,with KaryoTutor providing interactive inputs.Additionally, trainers can assign cases and monitor trainee progress using audit trail management and other administrative features.

Routine conventional karyotyping of lymphoma staging bone marrow samples does not contribute clinically relevant information.

Science.gov (United States)

Nardi, Valentina; Pulluqi, Olja; Abramson, Jeremy S; Dal Cin, Paola; Hasserjian, Robert P

2015-06-01

Bone marrow (BM) evaluation is an important part of lymphoma staging, which guides patient management. Although positive staging marrow is defined as morphologically identifiable disease, such samples often also include flow cytometric analysis and conventional karyotyping. Cytogenetic analysis is a labor-intensive and costly procedure and its utility in this setting is uncertain. We retrospectively reviewed pathological reports of 526 staging marrow specimens in which conventional karyotyping had been performed. All samples originated from a single institution from patients with previously untreated Hodgkin and non-Hodgkin lymphomas presenting in an extramedullary site. Cytogenetic analysis revealed clonal abnormalities in only eight marrow samples (1.5%), all of which were positive for lymphoma by morphologic evaluation. Flow cytometry showed a small clonal lymphoid population in three of the 443 morphologically negative marrow samples (0.7%). Conventional karyotyping is rarely positive in lymphoma staging marrow samples and, in our cohort, the BM karyotype did not contribute clinically relevant information in the vast majority of cases. Our findings suggest that karyotyping should not be performed routinely on BM samples taken to stage previously diagnosed extramedullary lymphomas unless there is pathological evidence of BM involvement by lymphoma. © 2015 Wiley Periodicals, Inc.

Implementation of molecular karyotyping in clinical genetics

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Luca Lovrecic

2013-11-01

Full Text Available Rapid development of technologies for the study of the human genome is an expected step after the discovery and sequencing of the entire human genome. Chromosomal microarrays, which allow us to perform tens of thousands of previously individual experiments simultaneously, are being utilized in all areas of human genetics and genomics. Initially, this was applicable only for research purposes, but in the last few years their clinical diagnostic purposes are becoming more and more relevant. Using molecular karyotyping (also chromosomal microarray, comparative genomic hybridization with microarray, aCGH, one can analyze microdeletions / microduplications in the whole human genome at once. It is a first-tier cytogenetic diagnostic test instead of G-banded karyotyping in patients with developmental delay and/or congenital anomalies. Molecular karyotyping is used as a diagnostic test in patients with unexplained developmental delay and/or idiopathic intellectual disability and/or dysmorphic features and/or multiple congenital anomalies (DD/ID/DF/MCA. In addition, the method is used in prenatal diagnostics and in some centres also in preimplantation genetic diagnosis.The aim of this paper is to inform the professional community in the field about this new diagnostic method and its implementation in Slovenia, and to define the clinical situations where the method is appropriate.

Karyotype Analysis of Gazania rigens Varieties

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Jiashi Zeng

2016-09-01

Full Text Available For studying species origin, systematic evolution and phylogenetic relationship of Gazania rigens, four different G. rigens varieties, with different flower colors, were subjected to chromosome karyotype analysis. The somatic chromosome number in three varieties ‘Hongwen’, ‘Xingbai’ and ‘Richu’ was 2n = 10, while in ‘Zhongguo Xunzhangju’ it was 2n = 20. We speculate that the cardinal number of chromosomes in G. rigens plants is x = 5, in which case ‘Zhongguo Xunzhangju’ is a tetraploid. The karyotype formulae of ‘Hongwen’, ‘Xingbai’ and ‘Richu’ were 2n = 8m + 2sm, 2n = 8m  + 2sm and 2n = 10m respectively. The karyotype formula of ‘Zhongguo Xunzhangju’ was 2n = 18m + 2sm. The asymmetrical karyotype coefficients of the four G. rigens varieties ranged from 53.80% to 58.84%. Only ‘Richu’ had a ‘1A’ karyotype, while the others were relatively symmetric ‘2A’. Karyotype analysis indicates that the three introduced varieties have a close genetic relationship.

Clinical utility of skin karyotype

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Luiza E. Dorfman

2015-08-01

Full Text Available ABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymmetry. In the postnatal evaluation it was identified microcephaly, single central nostril, and other malformations. We performed skin karyotype that resulted in full trisomy 13. Our report highlights the possibility of performing karyotype examination in cases when it is no longer possible to obtain a blood sample, thus providing the correct diagnosis and genetic counseling for the family.

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

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Kooper Angelique JA

2012-01-01

Full Text Available Abstract As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8% chorionic villus (CV and 46 (9.2% amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC and long-term culture (LTC cells. Overall, 19 (3.8% abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13, two with a sex chromosomal aneuploidy (Klinefelter syndrome, one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8% abnormal cases, including 12 cases (2.4% with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR.

Karyotype relationships among Anastrepha bistrigata, A. striata and A. serpentina (Diptera, Tephritidae

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Denise Selivon

2007-01-01

Full Text Available The species of Anastrepha are arranged into 17 intrageneric groups. Recently, it was proposed that two species of the striata group, Anastrepha striata and A. bistrigata, might be realocated to serpentina group. Anastrepha bistrigata and A. serpentina have an X1X2Y/X1X1 X2X2 sex chromosome system while A. striata has a XY/XX system. It was previously proposed that the karyotype of A. bistrigata could be derived from that of A. striata by an Y:A fusion, and that the karyotype of A. serpentina would be derived from another, hypothetical karyotype. In the present report sequential staining with DAPI and chromomycin A3 (CMA3, followed by C-banding, revealed that the C-banded heterochromatic blocks of the sex chromosomes of A. bistrigata have different affinities to fluorochromes in comparison to the chromosomes of A. striata, from which they have hypothetically derived. The chromosomes of A. serpentina show substantial differences in their cytochemical properties compared to their A. bistrigata and A. striata counterparts. The FISH technique showed that the ribosomal gene sequences are located in DAPI- or DAPI/CMA3-positive heterochromatic blocks of the sex chromosomes, one site on the Y chromosome and one site on the X chromosome (X1 in A. bistrigata and A. serpentina. The data suggest that the karyotype of A. striata and A. bistrigata could be derived from a common ancestral karyotype, while the A. serpentina karyotype probably has a distinct origin.

NanoKaryotyping

DEFF Research Database (Denmark)

Kwasny, Dorota

Chromosome abnormalities, such as translocations may cause various genetic disorders and are also associated with heametological malignancies. Translocation is a rearrangement between two chromosome arms that results in two derivative chromosomes. The current detection methods such as karyotyping...

Karyotypes of some medium-sized Dytiscidae (Agabinae and Colymbetinae (Coleoptera

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Robert Angus

2013-06-01

Full Text Available An account is given of the karyotypes of 29 species of medium sized Dytiscidae (Coleoptera. Of the 20 species of Agabus Leach, 1817, 18 have karyotypes comprising 21 pairs of autosomes and sex chromosomes which are either X0(♂ or XX (♀. These species are A. serricornis (Paykull, 1799, A. labiatus (Brahm, 1791, A. congener (Thunberg, 1794, A. lapponicus (Thomson, 1867, A. thomsoni (J. Sahlberg, 1871, A. confinis (Gyllenhal, 1808, A. sturmii (Gyllenhal, 1808, A. bipustulatus (Linnaeus, 1767, A. nevadensis Håkan Lindberg, 1939, A. wollastoni Sharp, 1882, A. melanarius Aubé, 1837, A. biguttatus (Olivier, 1795, A. binotatus Aubé, 1837, A. affinis (Paykull, 1798, A. unguicularis (Thomson, 1867, A. ramblae Millan & Ribera, 2001, A. conspersus (Marsham, 1802 and A. nebulosus (Forster, 1771. However two species, A. infuscatus Aubé, 1838 and A. adpressus Aubé, 1837, have developed a neo-XY system, with karyotypes comprising 21 pairs of autosomes and XY sex chromosomes (♂. No chromosomal differences have been detected between typical A. bipustulatus and A. bipustulatus var. solieri Aubé, 1837, nor have any been found between the three species of the A. bipustulatus complex (A. bipustulatus, A. nevadensis and A. wollastoni. The four species of Colymbetes Clairville, 1806, C. fuscus (Linnaeus, 1758, C. paykulli Erichson, 1837, C. piceus Klug, 1834 and C. striatus (Linnaeus, 1758 have karyotypes comprising 20 pairs of autosomes and sex chromosomes which are X0 (♂, XX (♀. Two of the species of Rhantus Dejean, 1833, R. exsoletus (Forster, 1771 and R. suturellus (Harris, 1828 have karyotypes comprising 20 pairs of autosomes and X0/XX sex chromosomes, but the other three species, R. grapii (Gyllenhal, 1808, R. frontalis (Marsham, 1802 and R. suturalis (Macleay, 1825 have 22 pairs of autosomes and X0/XX sex chromosomes. Agabus congener and Rhantus suturellus may have one B-chromosome. Nine of the species have previously published karyotype data but

Chromosome numbers and karyotype evolution in holoparasitic Orobanche (Orobanchaceae) and related genera

Science.gov (United States)

Schneeweiss, G.M.; Palomeque, T.; Colwell, A.E.; Weiss-Schneeweiss, H.

2004-01-01

Chromosome numbers and karyotypes of species of Orobanche, Cistanche, and Diphelypaea (Orobanchaceae) were investigated, and 108 chromosome counts of 53 taxa, 19 counted for the first time, are presented with a thorough compilation of previously published data. Additionally, karyotypes of representatives of these genera, including Orobanche sects. Orobanche and Trionychon, are reported. Cistanche (x = 20) has large meta- to submetacentric chromosomes, while those of Diphelypaea (x = 19) are medium-sized submeta-to acrocentrics. Within three analyzed sections of Orobanche, sects. Myzorrhiza (x = 24) and Trionychon (x = 12) possess medium-sized submeta- to acrocentrics, while sect. Orobanche (x = 19) has small, mostly meta- to submetacentric, chromosomes. Polyploidy is unevenly distributed in Orobanche and restricted to a few lineages, e.g., O. sect. Myzorrhiza or Orobanche gracilis and its relatives (sect. Orobanche). The distribution of basic chromosome numbers supports the groups found by molecular phylogenetic analyses: Cistanche has x = 20, the Orobanche-group (Orobanche sect. Orobanche, Diphelypaea) has x = 19, and the Phelipanche-group (Orobanche sects. Gymnocaulis, Myzorrhiza, Trionychon) has x = 12, 24. A model of chromosome number evolution in Orobanche and related genera is presented: from two ancestral base numbers, xh = 5 and xh = 6, independent polyploidizations led to x = 20 (Cistanche) and (after dysploidization) x = 19 (Orobanche-group) and to x = 12 and x = 24 (Phelipanche-group), respectively.

Congenital heart disease and chromossomopathies detected by the karyotype

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Patrícia Trevisan

2014-06-01

Full Text Available OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome. These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky.CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

Congenital heart disease and chromossomopathies detected by the karyotype

Science.gov (United States)

Trevisan, Patrícia; Rosa, Rafael Fabiano M.; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G.

2014-01-01

OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome). These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky. CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype. PMID:25119760

[Rapid karyotyping in the 2nd and 3rd trimester: results and experiences].

Science.gov (United States)

Claussen, U; Voigt, H J; Ulmer, R; Beinder, E

1995-01-01

Rapid karyotyping in the second and third trimester is an increasing field of collaboration between women's hospitals and human genetics. Techniques available for rapid karyotyping are: 1. Amniocentesis; to obtain amniotic fluid cells for culturing and subsequent chromosome harvesting using the pipette method or the "in situ" technique. The average time between preparation of the amniotic fluid and the verbal notification of the analysed karyotype is 4.65 days for the pipette method and 5.97 days for the "in situ" technique. The major advantages are that amniocentesis can be handled safely by many gynaecologist, and the amniotic fluid samples can be posted easily to cytogenetic units familiar with rapid karyotyping. The main disadvantage is that currently only a few laboratories are able to handle the pipette method or the "in situ" technique for rapid karyotyping. 2. Fetal blood sampling (cordocentesis); and subsequent chromosome analysis on cultivated fetal lymphocytes leading to results within 2 to 4 days. The main advantage of this procedure is the reliability of the results obtained. Fetal blood sampling, however, is restricted to specialists; this may involve scheduling delays. 3. Placental biopsy; with subsequent direct preparation and long term culturing. In comparison to both other techniques this procedure is faster if direct preparation is used. Results can be obtained even on the same day. The main disadvantage, however, is the problem with the reliability of the direct preparation results. They must be confirmed by time-consuming long-term culturing. Data are presented on the likelihood of abnormal ultrasound findings being caused by chromosomal aberrations.(ABSTRACT TRUNCATED AT 250 WORDS)

Comparative Chromosome Map and Heterochromatin Features of the Gray Whale Karyotype (Cetacea).

Science.gov (United States)

Kulemzina, Anastasia I; Proskuryakova, Anastasia A; Beklemisheva, Violetta R; Lemskaya, Natalia A; Perelman, Polina L; Graphodatsky, Alexander S

2016-01-01

Cetacean karyotypes possess exceptionally stable diploid numbers and highly conserved chromosomes. To date, only toothed whales (Odontoceti) have been analyzed by comparative chromosome painting. Here, we studied the karyotype of a representative of baleen whales, the gray whale (Eschrichtius robustus, Mysticeti), by Zoo-FISH with dromedary camel and human chromosome-specific probes. We confirmed a high degree of karyotype conservation and found an identical order of syntenic segments in both branches of cetaceans. Yet, whale chromosomes harbor variable heterochromatic regions constituting up to a third of the genome due to the presence of several types of repeats. To investigate the cause of this variability, several classes of repeated DNA sequences were mapped onto chromosomes of whale species from both Mysticeti and Odontoceti. We uncovered extensive intrapopulation variability in the size of heterochromatic blocks present in homologous chromosomes among 3 individuals of the gray whale by 2-step differential chromosome staining. We show that some of the heteromorphisms observed in the gray whale karyotype are due to distinct amplification of a complex of common cetacean repeat and heavy satellite repeat on homologous autosomes. Furthermore, we demonstrate localization of the telomeric repeat in the heterochromatin of both gray and pilot whale (Globicephala melas, Odontoceti). Heterochromatic blocks in the pilot whale represent a composite of telomeric and common repeats, while heavy satellite repeat is lacking in the toothed whale consistent with previous studies. © 2016 S. Karger AG, Basel.

First Description of the Karyotype and Sex Chromosomes in the Komodo Dragon (Varanus komodoensis).

Science.gov (United States)

Johnson Pokorná, Martina; Altmanová, Marie; Rovatsos, Michail; Velenský, Petr; Vodička, Roman; Rehák, Ivan; Kratochvíl, Lukáš

2016-01-01

The Komodo dragon (Varanus komodoensis) is the largest lizard in the world. Surprisingly, it has not yet been cytogenetically examined. Here, we present the very first description of its karyotype and sex chromosomes. The karyotype consists of 2n = 40 chromosomes, 16 macrochromosomes and 24 microchromosomes. Although the chromosome number is constant for all species of monitor lizards (family Varanidae) with the currently reported karyotype, variability in the morphology of the macrochromosomes has been previously documented within the group. We uncovered highly differentiated ZZ/ZW sex microchromosomes with a heterochromatic W chromosome in the Komodo dragon. Sex chromosomes have so far only been described in a few species of varanids including V. varius, the sister species to Komodo dragon, whose W chromosome is notably larger than that of the Komodo dragon. Accumulations of several microsatellite sequences in the W chromosome have recently been detected in 3 species of monitor lizards; however, these accumulations are absent from the W chromosome of the Komodo dragon. In conclusion, although varanids are rather conservative in karyotypes, their W chromosomes exhibit substantial variability at the sequence level, adding further evidence that degenerated sex chromosomes may represent the most dynamic genome part. © 2016 S. Karger AG, Basel.

Karyotypic similarities between two species of Rhamphichthys (Rhamphichthyidae, Gymnotiformes from the Amazon basin

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Patrícia Silva

2013-10-01

Full Text Available The family Rhamphichthyidae includes three genera: Rhamphichthys Müller et Troschel, 1846, Gymnorhamphichthys M. M. Ellis, 1912 and Iracema Triques, 1996. From this family, only the species Rhamphichthys hanni Meinken, 1937 has had its karyotype described. Here, we describe the karyotypes of two additional Rhamphichthys species: R. marmoratus Castelnau, 1855 from the Reserva de Desenvolvimento Sustentável Mamirauá, Amazonas state and R. prope rostratus Linnaeus, 1766 from Pará state, both in Brazil. Our karyotypic analyses demonstrated that the diploid number is conserved for the genus (2n = 50, but the karyotypic formulas (KFs differed between R. marmoratus (44m/sm+6a and R. prope rostratus (42m/sm+8a. In both species, the constitutive heterochromatin (CH was located in the centromeric region of most chromosomes. Large heterochromatic blocks were found on the long arms of pairs 4 and 14 in R. marmoratus and on chromosomes 3, 4 and 19 in R. prope rostratus, which also has a heteromorphism in chromosome pair 1. The CH was DAPI positive, indicating that it is rich in AT base pairs. The Nucleolus Organizer Region (NOR showed staining at a single location in both species: the long arm of pair 1 in R. marmoratus and the long arm of pair 12 in R. prope rostratus, where it showed a size heteromorphism. CMA3 staining coincided with that of Ag-NOR, indicating that the ribosomal genes contain interspaced GC-rich sequences. FISH with an 18S rDNA probe confirmed that there is only one NOR site in each species. These results can be used as potential cytogenetic markers for fish populations, and comparative analysis of the karyotypes of Hypopygus Hoedman, 1962, Rhamphichthys and Steatogenys Boulenger, 1898 suggests that the first two genera diverged later that the third.

Genetic variation and differentiation of Gekko gecko from different populations based on mitochondrial cytochrome b gene sequences and karyotypes.

Science.gov (United States)

Qin, Xin-Min; Li, Hui-Min; Zeng, Zhen-Hua; Zeng, De-Long; Guan, Qing-Xin

2012-06-01

Black-spotted and red-spotted tokay geckos are distributed in different regions and have significant differences in morphological appearance, but have been regarded as the same species, Gekko gecko, in taxonomy. To determine whether black-spotted and red-spotted tokay geckos are genetically differentiated, we sequenced the entire mitochondrial cytochrome b gene (1147 bp) from 110 individuals of Gekko gecko collected in 11 areas including Guangxi China, Yunnan China, Vietnam, and Laos. In addition, we performed karyotypic analyses of black-spotted tokay geckos from Guangxi China and red-spotted tokay geckos from Laos. These phylogenetic analyses showed that black-spotted and red-spotted tokay geckos are divided into two branches in molecular phylogenetic trees. The average genetic distances are as follows: 0.12-0.47% among six haplotypes in the black-spotted tokay gecko group, 0.12-1.66% among five haplotypes in the red-spotted tokay gecko group, and 8.76-9.18% between the black-spotted and red-spotted tokay geckos, respectively. The karyotypic analyses showed that the karyotype formula is 2n = 38 = 8m + 2sm + 2st + 26t in red-spotted tokay geckos from Laos compared with 2n = 38 = 8m + 2sm + 28t in black-spotted tokay geckos from Guangxi China. The differences in these two kinds of karyotypes were detected on the 15th chromosome. The clear differences in genetic levels between black-spotted and red-spotted tokay geckos suggest a significant level of genetic differentiation between the two.

Main trends of karyotype evolution in the superfamily Chalcidoidea (Hymenoptera

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Vladimir Gokhman

2009-08-01

Full Text Available An overview of karyotype evolution in the superfamily Chalcidoidea is given. Structural types of chromosome sets in the superfamily are listed. Main pathways of karyotypic change in the Chalcidoidea are outlined. The chromosome set containing eleven subtelo- or acrocentrics is considered as an ancestral karyotype for the superfamily. Multiple independent reductions in n values through chromosomal fusions presumably occurred in various groups of chalcid families.

Updating the maize karyotype by chromosome DNA sizing

Science.gov (United States)

2018-01-01

The karyotype is a basic concept regarding the genome, fundamentally described by the number and morphological features of all chromosomes. Chromosome class, centromeric index, intra- and interchromosomal asymmetry index, and constriction localization are important in clinical, systematic and evolutionary approaches. In spite of the advances in karyotype characterization made over the last years, new data about the chromosomes can be generated from quantitative methods, such as image cytometry. Therefore, using Zea mays L., this study aimed to update the species’ karyotype by supplementing information on chromosome DNA sizing. After adjustment of the procedures, chromosome morphometry and class as well as knob localization enabled describing the Z. mays karyotype. In addition, applying image cytometry, DNA sizing was unprecedentedly measured for the arms and satellite of all chromosomes. This way, unambiguous identification of the chromosome pairs, and hence the assembly of 51 karyograms, were only possible after the DNA sizing of each chromosome, their arms and satellite portions. These accurate, quantitative and reproducible data also enabled determining the distribution and variation of DNA content in each chromosome. From this, a correlation between DNA amount and total chromosome length evidenced that the mean DNA content of chromosome 9 was higher than that of chromosome 8. The chromosomal DNA sizing updated the Z. mays karyotype, providing insights into its dynamic genome with regards to the organization of the ten chromosomes and their respective portions. Considering the results and the relevance of cytogenetics in the current scenario of comparative sequencing and genomics, chromosomal DNA sizing should be incorporated as an additional parameter for karyotype definition. Based on this study, it can be affirmed that cytogenetic approaches go beyond the simple morphological description of chromosomes. PMID:29293613

Normal karyotype mosaicism in adult AML patients with adverse-risk and undefined karyotype: preliminary report of treatment outcomes after hematopoietic stem cell transplantation.

Science.gov (United States)

Yoon, Jae-Ho; Kim, Hee-Je; Shin, Seung-Hwan; Yahng, Seung-Ah; Cho, Byung-Sik; Eom, Ki-Seong; Kim, Yoo-Jin; Lee, Seok; Min, Chang-Ki; Cho, Seok-Goo; Kim, Dong-Wook; Lee, Jong-Wook; Min, Woo-Sung; Park, Chong-Won

2013-06-01

Karyotype analysis in acute myeloid leukemia (AML) is one of the powerful prognostic factors for complete remission (CR), relapse, and overall survival (OS). Cytogenetic mosaicism is considered to be one of the important characteristics in expression of phenotypic manifestations. However, it has not come into focus due to emerging molecular biological approaches and the results of a number of mutation studies. Clinical correlates and prognostic relevance of mosaicism were evaluated in 163 AML patients [adverse-risk karyotypes (n = 72) and undefined karyotypes (n = 91)]. All patients were treated by induction and consolidation chemotherapies and finally went on hematopoietic stem cell transplantations (HSCT). Patients were divided into two subgroups, either with or without normal karyotype (NK) mosaicism. Seventy patients exhibited NK mosaicism and 93 did not. There were no significant differences in age, gender, chemotherapy cycles to achieve CR, HSCT donor type, source or intensity properties between the two subgroups. We found that NK mosaicism remaining in adverse-risk and undefined karyotype at diagnosis significantly correlates with better OS (p = 0.001) and lower CIR (p = 0.021) rate after HSCT. Our data show that the poor prognostic properties of unfavorable risk karyotype can be overcome to a great extent by allogeneic HSCT and chronic GVHD, especially in the subgroup with NK mosaicism. Cytogenetic mosaicism at initial diagnosis can be an influential factor for survival outcomes, even after HSCT.

Acute myeloid leukemia in a patient with constitutional 47,XXY karyotype

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Marla M. Jalbut

2015-01-01

Full Text Available Klinefelter syndrome (KS, a 47,XXY chromosomal abnormality, has been shown to be associated with a number of malignancies, but has not been linked to acute leukemias to date. We present a case of a 54-year-old male diagnosed with acute myeloid leukemia (AML with monocytic differentiation, whose cytogenetic and subsequent FISH analyses revealed a constitutional 47,XXY karyotype. We also review and discuss relevant prior literature.

Acute myeloid leukemia in a patient with constitutional 47,XXY karyotype.

Science.gov (United States)

Jalbut, Marla M; Sohani, Aliyah R; Dal Cin, Paola; Hasserjian, Robert P; Moran, Jenna A; Brunner, Andrew M; Fathi, Amir T

2015-01-01

Klinefelter syndrome (KS), a 47,XXY chromosomal abnormality, has been shown to be associated with a number of malignancies, but has not been linked to acute leukemias to date. We present a case of a 54-year-old male diagnosed with acute myeloid leukemia (AML) with monocytic differentiation, whose cytogenetic and subsequent FISH analyses revealed a constitutional 47,XXY karyotype. We also review and discuss relevant prior literature.

Karyotype of some Thai Hypoxidaceae species

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Ladda Eksomtramage

2013-08-01

Full Text Available Somatic chromosome numbers and karyotypes of nine species in three genera of Thai Hypoxidaceae were determinedin root tips. All species are diploid with 2n = 18 and asymmetrical karyotypes including metacentric (m submetacentric (smsubtelocentric (st and also telocentric (t in some species. Satellite chromosomes (SAT were observed in all species studiedexcept in C. latifolia. The karyotypes of Curculigo ensifolia 4m+8sm+6st(2SAT, C. latifolia 2m+14sm+2st, C. megacarpa2m+12sm+4st(2SAT, C. villosa 4m+10sm(2SAT+4st, Hypoxis aurea 2m+8sm+8st(2SAT, Molineria capitulata 2m+10sm+2st (2SAT+4t, M. trichocarpa 2m+10sm+6st(2SAT, M. gracilis and M. latifolia 4m+8sm+4st (2SAT+2t are reported forthe first time. The chromosome relative length of Curculigo, Hypoxis and Molineria range between 3.44-9.55, 4.03-8.12 and3.64-8.97, respectively.

Karyotypic characterization of Ramphastidae (Piciformes, Aves

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Castro Márcio Siqueira

2002-01-01

Full Text Available The karyotypes of nine species of the family Ramphastidae were determined and compared with that of the toco toucan (Ramphastos toco, the only ramphastid karyotype so far reported in the literature. Differences in the morphology of the largest chromosomes allowed to identify three karyotype groups. The first group included the species R. toco, Baillonius bailloni, Pteroglossus castanotis, P. aracari and Selenidera maculirostris, in which only the first pair of chromosomes was metacentric. The second group included four Ramphastos species (R. dicolorus, R. ariel, R. vitellinus, R. tucanus cuvieri with two pairs of metacentric macrochromosomes (the first and the seventh. The third group was represented by a single species, A. laminirostris, in which all the autosomal chromosomes were telocentric. All of the species had subtelocentric Z chromosomes, similar in size to homologues of the first pair. Sex chromosome W was a small chromosome. The chromosome number ranged from 2n = 62 in P. aracari to 114 in R. toco. The cytotaxonomic relationships among toucan species are discussed, based on chromosome analysis.

Association of electrophoretic karyotype of Candida stellatoidea with virulence for mice

International Nuclear Information System (INIS)

Kwon-Chung, K.J.; Wickes, B.L.; Merz, W.G.

1988-01-01

Seven isolates of Candida stellatoidea were studied for their electrophoretic karyotype, virulence for mice, sensitivity to UV radiation, growth rate in vitro, reaction on cycloheximide-indicator medium, and proteinase activity. The isolates exhibited one of two distinct electrophoretic karyotypes as determined by orthogonal field alternating gel electrophoresis (OFAGE). Four isolates, including the type culture of C. stellatoidea, belonged to electrophoretic karyotype type I by OFAGE, showing eight to nine bands of which at least two bands were less than 1,000 kilobases in size as estimated by comparison with the DNA bands of Saccharomyces cerevisiae. These isolates failed to produce fatal infection in mice within 20 days when 5 X 10(5) cells were injected intravenously. The yeasts were cleared from the kidneys of two of three mice tested by day 30. Type I showed proteinase activity on bovine serum albumin agar at pH 3.8 and produced a negative reaction on cycloheximide-bromcresol green medium within 48 h. The three grouped in type II by OFAGE showed banding patterns similar to those of a well-characterized isolate of Candida albicans. The isolates of type II had an electrophoretic karyotype of six to seven bands approximately 1,200 kilobases or greater in size. All three type II isolates were highly virulent for mice, producing fatality curves similar to those of a previously studied C. albicans isolate. From 80 to 90% of the mice injected with 5 X 10(5) cells intravenously died within 20 days. The type II isolates produced a positive reaction on cycloheximide-bromcresol green agar and showed no proteinase activity on bovine serum albumin agar at the low pH. In addition, the type II isolates grew faster and were significantly more resistant to UV irradiation than the type I isolates

Karyotypic evolution in family Hipposideridae (Chiroptera, Mammalia) revealed by comparative chromosome painting, G- and C-banding.

Science.gov (United States)

Mao, Xiu-Guang; Wang, Jin-Huan; Su, Wei-Ting; Wang, Ying-Xiang; Yang, Feng-Tang; Nie, Wen-Hui

2010-10-01

Comparing to its sister-family (Rhinolophidae), Hipposideridae was less studied by cytogenetic approaches. Only a few high-resolution G-banded karyotypes have been reported so far, and most of the conclusions on the karyotypic evolution in Hipposideridae were based on conventional Giemsa-staining. In this study, we applied comparative chromosome painting, a method of choice for genome-wide comparison at the molecular level, and G- and C-banding to establish comparative map between five hipposiderid species from China, using a whole set of chromosome-specific painting probes from one of them (Aselliscus stoliczkanus). G-band and C-band comparisons between homologous segments defined by chromosome painting revealed that Robertsonian translocations, paracentric inversions and heterochromatin addition could be the main mechanism of chromosome evolution in Hipposideridae. Comparative analysis of the conserved chromosomal segments among five hipposiderid species and outgroup species suggests that bi-armed chromosomes should be included into the ancestral karyotype of Hipposideridae, which was previously believed to be exclusively composed of acrocentric chromosomes.

A new karyotype of Calomys (Rodentia, Sigmodontinae

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Lima J. Fernando de S.

2001-01-01

Full Text Available The genus Calomys Waterhouse, 1837 is widely distributed within South America, being found in Venezuela, Colombia, Peru, Bolivia, Brazil, Paraguay, Uruguay and Argentina. Specimens of Calomys were collected in Formoso do Araguaia, Tocantins, Brazil. For chromosome characterization standard staining techniques and as G-banding and nucleolar organizer region were used. The karyotype was 2n=46 and AN=66. The X chromosome is a medium metacentric and the Y chromosome a small acrocentric chromosome. Chromosome homologies with other species were observed. Probably, karyotype differences were basically due to Robertsonian rearrangements.

CrusView: a Java-based visualization platform for comparative genomics analyses in Brassicaceae species.

Science.gov (United States)

Chen, Hao; Wang, Xiangfeng

2013-09-01

In plants and animals, chromosomal breakage and fusion events based on conserved syntenic genomic blocks lead to conserved patterns of karyotype evolution among species of the same family. However, karyotype information has not been well utilized in genomic comparison studies. We present CrusView, a Java-based bioinformatic application utilizing Standard Widget Toolkit/Swing graphics libraries and a SQLite database for performing visualized analyses of comparative genomics data in Brassicaceae (crucifer) plants. Compared with similar software and databases, one of the unique features of CrusView is its integration of karyotype information when comparing two genomes. This feature allows users to perform karyotype-based genome assembly and karyotype-assisted genome synteny analyses with preset karyotype patterns of the Brassicaceae genomes. Additionally, CrusView is a local program, which gives its users high flexibility when analyzing unpublished genomes and allows users to upload self-defined genomic information so that they can visually study the associations between genome structural variations and genetic elements, including chromosomal rearrangements, genomic macrosynteny, gene families, high-frequency recombination sites, and tandem and segmental duplications between related species. This tool will greatly facilitate karyotype, chromosome, and genome evolution studies using visualized comparative genomics approaches in Brassicaceae species. CrusView is freely available at http://www.cmbb.arizona.edu/CrusView/.

Semi-automated detection of aberrant chromosomes in bivariate flow karyotypes

NARCIS (Netherlands)

Boschman, G. A.; Manders, E. M.; Rens, W.; Slater, R.; Aten, J. A.

1992-01-01

A method is described that is designed to compare, in a standardized procedure, bivariate flow karyotypes of Hoechst 33258 (HO)/Chromomycin A3 (CA) stained human chromosomes from cells with aberrations with a reference flow karyotype of normal chromosomes. In addition to uniform normalization of

Karyotype asymmetry in Cynodon Rich. (Poaceae) accessions.

Science.gov (United States)

Chiavegatto, R B; Paula, C M P; Souza Sobrinho, F; Benites, F R G; Techio, V H

2016-12-02

Cynodon is a genus of plants with forage potential that has attracted the interest of breeders. These species have high morphological variability in a large number of varieties and cytotypes, hampering identification. This study aimed to determine the karyotype asymmetry index among accessions of Cynodon to discriminate between them. Karyotype symmetry was based on three estimates, which were compared. The basic number for the genus is x = 9. The results of the chromosome count and DNA quantification, respectively, were as follows: two diploid accessions (2n = 2x = 18 and 1.08 ± 0.094 to 1.17 ± 0.036 pg DNA and ± standard deviation), one triploid accession (2n = 3x = 27 and 1.63 ± 0.017 pg DNA), four tetraploid accessions (2n = 4x = 36 and 1.88 ± 0.069 to 2.10 ± 0.07 pg DNA), and one pentaploid accession (2n = 5x = 45 and 2.55 ± 0.098 pg DNA). C. incompletus var. hirsutus had the longest total length of the haploid lot (29.05 µm), with chromosomes that ranged from 1.7 to 6.2 µm in length. On the basis of the karyotype asymmetry indices, the accessions were divided into two groups: 1) C. dactylon var. dactylon, C. transvaalensis, C. dactylon var. polevansii, three accessions of Cynodon sp, and C. nlemfuensis; and 2) C. incompletus var. hirsutus. This is the first description of tetraploidy in C. transvaalensis. The karyotypic data facilitated a determination of the degree of proximity between the accessions.

Karyotype analysis of three Solanum plants using combined PI-DAPI ...

African Journals Online (AJOL)

The chromosomes were distinguished by combined PI-DAPI (CPD) staining and double fluorescence in situ hybridization (FISH) with 45S and 5S rDNA probes and their molecular cytogenetic karyotypes were established. Although, the karyotype of S. surattense Burm. and S. photeinocarpum Nakam was first established, ...

CrusView: A Java-Based Visualization Platform for Comparative Genomics Analyses in Brassicaceae Species[OPEN

Science.gov (United States)

Chen, Hao; Wang, Xiangfeng

2013-01-01

In plants and animals, chromosomal breakage and fusion events based on conserved syntenic genomic blocks lead to conserved patterns of karyotype evolution among species of the same family. However, karyotype information has not been well utilized in genomic comparison studies. We present CrusView, a Java-based bioinformatic application utilizing Standard Widget Toolkit/Swing graphics libraries and a SQLite database for performing visualized analyses of comparative genomics data in Brassicaceae (crucifer) plants. Compared with similar software and databases, one of the unique features of CrusView is its integration of karyotype information when comparing two genomes. This feature allows users to perform karyotype-based genome assembly and karyotype-assisted genome synteny analyses with preset karyotype patterns of the Brassicaceae genomes. Additionally, CrusView is a local program, which gives its users high flexibility when analyzing unpublished genomes and allows users to upload self-defined genomic information so that they can visually study the associations between genome structural variations and genetic elements, including chromosomal rearrangements, genomic macrosynteny, gene families, high-frequency recombination sites, and tandem and segmental duplications between related species. This tool will greatly facilitate karyotype, chromosome, and genome evolution studies using visualized comparative genomics approaches in Brassicaceae species. CrusView is freely available at http://www.cmbb.arizona.edu/CrusView/. PMID:23898041

Evolutionary dynamics of the karyotype of the wasp Trypoxylon (Trypargilum nitidum (Hymenoptera, Sphecidae from the Rio Doce State Park, Minas Gerais, Brazil

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Ricardo Scher

2003-01-01

Full Text Available Cytogenetic analysis based on the distribution of C-bands showed two groups of karyotypes in a Trypoxylon nitidum population from the Rio Doce Park, State of Minas Gerais, Brazil. One of these groups, that was identical to a previously described karyotype (n = 15; 2n = 30, had a stable chromosome number and was rich in acrocentric chromosomes, whereas the other had a variable chromosome number (n = 12 to 14; 2n = 25 to 28 and was rich in pseudo-acrocentric chromosomes. We propose a hypothesis explaining the dynamics of the modifications which occurred in the karyotype of this species, based on the minimum interaction theory of Imai et al. (1986, 1988, 1994 and on the chromosome rearrangements and heteromorphisms observed by us.

The Mugil curema species complex (Pisces, Mugilidae): a new karyotype for the Pacific white mullet mitochondrial lineage.

Science.gov (United States)

Nirchio, Mauro; Oliveira, Claudio; Siccha-Ramirez, Zoila R; de Sene, Viviani F; Sola, Luciana; Milana, Valentina; Rossi, Anna Rita

2017-01-01

Recent molecular phylogenetic analyses have shown that the Mugil curema Valenciennes, 1836 species complex includes M. incilis Hancock, 1830, M. thoburni (Jordan & Starks, 1896) and at least four " M. curema " mitochondrial lineages, considered as cryptic species. The cytogenetic data on some representatives of the species complex have shown a high cytogenetic diversity. This research reports the results of cytogenetic and molecular analyses of white mullet collected in Ecuador. The analyzed specimens were molecularly assigned to the Mugil sp. O, the putative cryptic species present in the Pacific Ocean and showed a 2n = 46 karyotype, which is composed of 2 metacentric and 44 subtelocentric/acrocentric chromosomes. This karyotype is different from the one described for M. incilis (2n = 48) and from those of the two western Atlantic lineages Mugil curema (2n = 28), and Mugil margaritae (2n = 24). Data suggest the need for a morphological analysis to assign a species name to this Pacific lineage.

The Mugil curema species complex (Pisces, Mugilidae: a new karyotype for the Pacific white mullet mitochondrial lineage

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Mauro Nirchio

2017-04-01

Full Text Available Recent molecular phylogenetic analyses have shown that the Mugil curema Valenciennes, 1836 species complex includes M. incilis Hancock, 1830, M. thoburni (Jordan & Starks, 1896 and at least four “M. curema” mitochondrial lineages, considered as cryptic species. The cytogenetic data on some representatives of the species complex have shown a high cytogenetic diversity. This research reports the results of cytogenetic and molecular analyses of white mullet collected in Ecuador. The analyzed specimens were molecularly assigned to the Mugil sp. O, the putative cryptic species present in the Pacific Ocean and showed a 2n = 46 karyotype, which is composed of 2 metacentric and 44 subtelocentric/acrocentric chromosomes. This karyotype is different from the one described for M. incilis (2n = 48 and from those of the two western Atlantic lineages Mugil curema (2n = 28, and Mugil margaritae (2n = 24. Data suggest the need for a morphological analysis to assign a species name to this Pacific lineage.

Evolution of Karyotypes in Chameleons

Czech Academy of Sciences Publication Activity Database

Rovatsos, M.; Altmanová, M.; Johnson Pokorná, Martina; Velenský, P.; Baca, A. S.; Kratochvíl, L.

2017-01-01

Roč. 8, č. 12 (2017), č. článku 382. ISSN 2073-4425 Institutional support: RVO:67985904 Keywords : karyotype evolution * ITS * rDNA Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 3.600, year: 2016

Karyotypes of Saccharomyces sensu lato species

DEFF Research Database (Denmark)

Petersen, Randi Føns; Nilsson-Tilgren, Torsten; Piskur, Jure

1999-01-01

An improved pulsed-field electrophoresis program was developed to study differently sized chromosomes within the genus Saccharomyces. The number of chromosomes in the type strains was shown to be nine in Saccharomyces castellii and Saccharomyces dairenensis, 12 in Saccharomyces servazzii...... and Saccharomyces unisporus, 16 in Saccharomyces exiguus and seven in Saccharomyces kluyveri. The sizes of individual chromosomes were resolved and the approximate genome sizes were determined by the addition of individual chromosomes of the karyotypes. Apparently. the genome of S. exiguus, which is the only...... Saccharomyces sensu late yeast to contain small chromosomes, is larger than that of Saccharomyces cerevisiae. On the other hand, other species exhibited genome sizes that were 10-25% smaller than that of S. cerevisiae. Well-defined karyotypes represent the basis for future genome mapping and sequencing projects...

Karyotype-specific ear and hearing problems in young adults with turner syndrome and the effect of oxandrolone treatment

NARCIS (Netherlands)

Verver, E.J.; Freriks, K.; Sas, T.C.J.; Huygen, P.L.M.; Pennings, R.J.E.; Smeets, D.F.C.M.; Hermus, A.R.M.M.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Velden, J.A.M. van der; Keizer-Schrama, S.M.; Topsakal, V.; Admiraal, R.J.C.; Timmers, H.J.L.M.; Kunst, H.P.M.

2014-01-01

OBJECTIVE: To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox). STUDY DESIGN: Double-blind follow-up study. SETTING: University hospital. PATIENTS: Sixty-five TS patients (mean

Karyotypes, heterochromatin, and physical mapping of 18S-26S rDNA in Cactaceae.

Science.gov (United States)

Las Peñas, M L; Urdampilleta, J D; Bernardello, G; Forni-Martins, E R

2009-01-01

Karyotype analyses in members of the four Cactaceae subfamilies were performed. Numbers and karyotype formula obtained were: Pereskioideae = Pereskiaaculeata(2n = 22; 10 m + 1 sm), Maihuenioideae = Maihuenia patagonica (2n = 22, 9 m + 2 sm; 2n = 44, 18 m + 4 sm), Opuntioideae = Cumulopuntia recurvata(2n = 44; 20 m + 2 sm), Cactoideae = Acanthocalycium spiniflorum (2n = 22; 10 m + 1 sm),Echinopsis tubiflora (2n = 22; 10 m + 1 sm), Trichocereus candicans (2n = 22, 22 m). Chromosomes were small, the average chromosome length was 2.3 mum. Diploid species and the tetraploid C. recurvata had one terminal satellite, whereas the remaining tetraploid species showed four satellited chromosomes. Karyotypes were symmetrical. No CMA(-)/DAPI(+) bands were detected, but CMA(+)/DAPI(-) bands associated with NOR were always found. Pericentromeric heterochromatin was found in C. recurvata, A. spiniflorum, and the tetraploid cytotype of M. patagonica. The locations of the 18S-26S rDNA sites in all species coincided with CMA(+)/DAPI(-) bands; the same occurred with the sizes and numbers of signals for each species. This technique was applied for the first time in metaphase chromosomes in cacti. NOR-bearing pair no.1 may be homeologous in all species examined. In Cactaceae, the 18S-26S loci seem to be highly conserved. Copyright 2009 S. Karger AG, Basel.

The karyotype and 5S rRNA genes from Spanish individuals of the bat species Rhinolophus hipposideros (Rhinolophidae; Chiroptera).

Science.gov (United States)

Puerma, Eva; Acosta, Manuel J; Barragán, Maria José L; Martínez, Sergio; Marchal, Juan Alberto; Bullejos, Mónica; Sánchez, Antonio

2008-11-01

The karyotype of individuals of the species Rhinolophus hipposideros from Spain present a chromosome number of 2n = 54 (NFa = 62). The described karyotype for these specimens is very similar to another previously described in individual from Bulgaria. However, the presence of one additional pair of autosomal acrocentric chromosomes in the Bulgarian karyotype and the differences in X chromosome morphology indicated that we have described a new karyotype variant in this species. In addition, we have analyzed several clones of 1.4 and 1 kb of a PstI repeated DNA sequence from the genome of R. hipposideros. The repeated sequence included a region with high identity with the 5S rDNA genes and flanking regions, with no homology with GenBank sequences. Search for polymerase III regulatory elements demonstrated the presence of type I promoter elements (A-box, Intermediate Element and C-box) in the 5S rDNA region. In addition, upstream regulatory elements, as a D-box and Sp1 binding sequences, were present in flanking regions. All data indicated that the cloned repeated sequences are the functional rDNA genes from this species. Finally, FISH demonstrated the presence of rDNA in nine chromosome pairs, which is surprising as most mammals have only one carrier chromosome pair.

Karyotype Learning Center: A Software For Teaching And Learning Cytogenetics

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Joelma Freire De Mesquita

2004-05-01

Full Text Available The in vitro cultivation of human cells is an essential part of the work of every diagnostic cytoge-netics laboratory. Almost all human cytogenetic studies involve the examination of dividing bloodcell population by blocking cell division at metaphase with subsequent processing and staining bybanding techniques. The chromosome constitution is described as Karyotype that states the totalnumber of chromosomes and the sex chromosome constitution. Karyotypes are prepared by cuttingup a photograph of the spread metaphase chromosomes, matching up homologous chromosomes andsticking them back down on a card or nowadays more often by getting an image analysis computerto do the job. Chromosomes are identied by their size, centromere position and banding pattern.Teaching a student how to detect and interpret even the most common chromosome abnormaliti-es is a major challenge: mainly, in a developing country where the laboratorial facilities are notalways available for a big number of students. Therefore, in this work we present an educationalsoftware for teaching undergraduate students of Medical and Life Sciences Courses how to arrangenormal and abnormal chromosomes in the form of karyotype. The user, using drag-and-drop, is da-red to match up homologous chromosome. For that, we have developed a free full access web site(http://www.biomol.net/cariotipo/ for hosting the software. The latter has proved to be light andfast even under slow dial-up connections. This web site also oers a theoretical introductory sectionwith basic concepts about karyotype. Up to now the software has been successfully applied to un-dergraduate courses at the University of Rio de Janeiro (UNIRIO. The students have approved thesoftware; to them the similarities with the well-known game solitaire turns the exercise more excitingand provides additional stimulus to learn and understand karyotype. Professors have also used thesoftware as complementary material in their regular classes

Evolutionary dynamics of mammalian karyotypes

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Carlo Alberto Redi

2012-12-01

Full Text Available This special volume of Cytogenetic and Genome Research (edited by Roscoe Stanyon, University of Florence and Alexander Graphodatsky, Siberian division of the Russian Academy of Sciences is dedicated to the fascinating long search of the forces behind the evolutionary dynamics of mammalian karyotypes, revealed after the hypotonic miracle of the 1950s....

Karyotype Patterns of Hypsolebias antenori (Cyprinodontiformes: Rivulidae: An Endangered Killifish of the Semiarid Region of Brazil

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Wallace Silva do Nascimento

2014-01-01

Full Text Available Annual fish which belong to the order Cyprinodontiformes constitute an excellent model for evolutionary studies. their short life cycle, distribution in ecologically dynamic environments, and low agility make them favorable for genetic analyses. The species Hypsolebias antenori (Rivulidae, encountered in seasonal pools located in the semiarid region of Northeastern Brazil, has been the object of surveys with a view to study its ecological and behavioral aspects. This study reports on the karyotype patterns of this species, which represents the first contribution to the cytogenetics of this genus. The karyotype of this species is composed of 2n = 48 chromosomes (6m + 4sm + 36st; NF = 96; the heterochromatic regions are located in centromeric or pericentromeric position and are more pronounced in the nucleolar organizer regions. Two sites Ag-NORs/CMA+/DAPI were identified in the short arms of pairs 2 (metacentric and 21 (subtelocentric. Unlike the other species of this family which show an evolution modulated by events of centric fusions, H. antenori shows the maintenance of a basal diploid number and the large number of bibrachial elements indicates karyotypic diversification derived by pericentric inversions. Cytogenetic analyzes in this species will provide new taxonomic markers capable of being utilized in conservation issues and systematics.

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

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Anguiano Arturo

2012-01-01

Full Text Available Abstract Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosomes at a national reference laboratory, we reviewed the results of 179 consecutive clinical samples (31 prenatal and 148 postnatal submitted for spectral karyotyping. Over 90% of the cases were requested to identify either small supernumerary marker chromosomes (sSMCs or chromosomal exchange material detected by G-banded chromosome analysis. We also reviewed clinical indications of those cases with marker chromosomes in which chromosomal origin was identified by spectral karyotyping. Our results showed that spectral karyotyping identified the chromosomal origin of marker chromosomes or the source of derivative chromosomal material in 158 (88% of the 179 clinical cases; the identification rate was slightly higher for postnatal (89% compared to prenatal (84% cases. Cases in which the origin could not be identified had either a small marker chromosome present at a very low level of mosaicism (

Study of karyotypes in Case of Recurrent Abortions in Gujarat

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N. Parikh

2015-06-01

Full Text Available Introduction: - The biological definition of miscarriage is the expulsion of the conceptus before viability has been achieved. The definition of recurrent miscarriage is three or more consecutive spontaneous abortions. The risk factors for recurrent miscarriage are epidemiological, genetic, anatomical disorders, endocrinal, reproductive tract infections, thrombophilic disorders, disorders of materno-fetal alloimmune relationships, environmental effects and psychological causes. About 50% to 60% of all first trimester abortions are associated with derangement of one or more chromosomal complements. Aim: - The aim of this study was to assess frequency and increasing the awareness of physician about the nature of chromosomal aberration that contribute to the occurrence of repeated abortions. Material & Methods: - Patient of recurrent abortion was investigated by history taking, examination and investigations. For present study 20 women having two or more consecutive spontaneous abortions, who attended outdoor & indoor patient department, were selected and karyotyping was done. In 10 of the above cases karyotype study of both partners was done. So in total 30 individuals (20 females & 10 males were selected for Cytogenetic study. In all cases relevant history and clinical findings and other investigations were noted. Blood samples were obtained and karyotype study was performed at Genetic Laboratory, B. J. Medical College, Ahmedabad. Results and Conclusions: - Cytogenetic evaluation by karyotypes revealed robertsonian translocation in one (5% female; this patient had a history of 2 spontaneous abortions and two times IVF failure, she had history of chocolate cyst of ovary and family history of infertility. No numerical anomaly; mosaicism or inversions were found in this study; 23 cases had normal karyotype and remaining 6 cases came out inconclusive.

Multidirectional cross-species painting illuminates the history of karyotypic evolution in Perissodactyla.

Science.gov (United States)

Trifonov, Vladimir A; Stanyon, Roscoe; Nesterenko, Anastasia I; Fu, Beiyuan; Perelman, Polina L; O'Brien, Patricia C M; Stone, Gary; Rubtsova, Nadezhda V; Houck, Marlys L; Robinson, Terence J; Ferguson-Smith, Malcolm A; Dobigny, Gauthier; Graphodatsky, Alexander S; Yang, Fengtang

2008-01-01

The order Perissodactyla, the group of odd-toed ungulates, includes three extant families: Equidae, Tapiridae, and Rhinocerotidae. The extremely rapid karyotypic diversification in perissodactyls has so far prevented the establishment of genome-wide homology maps between these three families by traditional cytogenetic approaches. Here we report the first genome-wide comparative chromosome maps of African rhinoceroses, four tapir species, four equine species, and humans. These maps were established by multidirectional chromosome painting, with paint probes derived from flow-sorted chromosomes of Equus grevyi, Tapirus indicus, and Ceratotherium simum as well as painting probes from horse and human. The Malayan tapir (Tapirus indicus), Baird's tapir (T. bairdii), mountain tapir (T. pinchaque), lowland tapir (T. terrestris), and onager (E. hemionus onager), were studied by cross-species chromosome painting for the first time. Our results, when integrated with previously published comparative chromosome maps of the other perissodactyl species, have enabled the reconstruction of perissodactyl, ceratomorph, and equid ancestral karyotypes, and the identification of the defining evolutionary chromosomal rearrangements along each lineage. Our results allow a more reliable estimate of the mode and tempo of evolutionary chromosomal rearrangements, revealing a striking switch between the slowly evolving ceratomorphs and extremely rapidly evolving equids.

Description of karyotype in Hypostomus regani (Ihering, 1905 (Teleostei, Loricariidae from the Piumhi river in Brazil with comments on karyotype variation found in Hypostomus

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Ernani de Oliveira Mendes-Neto

2011-07-01

Full Text Available The paper represents a comparative cytogenetic analysis of three populations of Hypostomus regani in Brazil. Two populations belong to the Upper Paraná River Basin and the third one, the karyotype of which is described for the first time, was probably introduced into the São Francisco River Basin through transposition from the Piumhi River. Karyotype features of populations of H. regani from the Piracicaba and Tietê River Basins are also discussed. The occurrence of H. regani in the São Francisco River Basin is reported for the first time here. The study also revealed distinct differences in the location of the Ag-NORs between the analyzed populations that enable individuals from the Piumhi River, Mogi-Guaçu River and Tietê River to be distinguished from one another. Thus, the data obtained indicate the possibility of geographic variation fixing different karyotypes even in the same basin of origin.

The Ancestral Carnivore Karyotype As Substantiated by Comparative Chromosome Painting of Three Pinnipeds, the Walrus, the Steller Sea Lion and the Baikal Seal (Pinnipedia, Carnivora.

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Violetta R Beklemisheva

Full Text Available Karyotype evolution in Carnivora is thoroughly studied by classical and molecular cytogenetics and supplemented by reconstructions of Ancestral Carnivora Karyotype (ACK. However chromosome painting information from two pinniped families (Odobenidae and Otariidae is noticeably missing. We report on the construction of the comparative chromosome map for species from each of the three pinniped families: the walrus (Odobenus rosmarus, Odobenidae-monotypic family, near threatened Steller sea lion (Eumetopias jubatus, Otariidae and the endemic Baikal seal (Pusa sibirica, Phocidae using combination of human, domestic dog and stone marten whole-chromosome painting probes. The earliest karyological studies of Pinnipedia showed that pinnipeds were characterized by a pronounced karyological conservatism that is confirmed here with species from Phocidae, Otariidae and Odobenidae sharing same low number of conserved human autosomal segments (32. Chromosome painting in Pinnipedia and comparison with non-pinniped carnivore karyotypes provide strong support for refined structure of ACK with 2n = 38. Constructed comparative chromosome maps show that pinniped karyotype evolution was characterized by few tandem fusions, seemingly absent inversions and slow rate of genome rearrangements (less then one rearrangement per 10 million years. Integrative comparative analyses with published chromosome painting of Phoca vitulina revealed common cytogenetic signature for Phoca/Pusa branch and supports Phocidae and Otaroidea (Otariidae/Odobenidae as sister groups. We revealed rearrangements specific for walrus karyotype and found the chromosomal signature linking together families Otariidae and Odobenidae. The Steller sea lion karyotype is the most conserved among three studied species and differs from the ACK by single fusion. The study underlined the strikingly slow karyotype evolution of the Pinnipedia in general and the Otariidae in particular.

Karyotype variability in neotropical catfishes of the family Pimelodidae (Teleostei: Siluriformes

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Américo Moraes Neto

Full Text Available Karyotypic data are presented for four species of fish belonging to the Pimelodidae family. These species show a conserved diploid number, 2n = 56 chromosomes, with different karyotypic formulae. The analyzed species showed little amount of heterochromatin located preferentially in the centromeric and telomeric regions of some chromosomes. The nucleolus organizer regions activity (Ag-NORs and the chromosomal location of ribosomal genes by fluorescent in situ hybridization (FISH, with 18S and 5S probes, showing only one chromosome pair marked bearer of ribosomal genes, the only exception was Pimelodus britskii that presented multiple NORs and syntenic location of the 18S and 5S probes. Non-Robertsonian events, as pericentric inversion and NORs duplication are requested to explain the karyotype diversification in Pseudoplatystoma from the rio Paraguay (MS, Pimelodus from the rio Iguaçu (PR, Sorubim from the rio Paraguay (MS and Steindachneridion from the rio Paraíba do Sul (SP. The obtained data for the karyotype macrostructure of these species corroborates a conserved pattern observed in Pimelodidae. On the other hand, interspecific variations detected by molecular cytogenetics markers made possible cytotaxonomic inferences and differentiation of the species here analyzed.

Karyotype description of two Neotropical Psittacidae species: the endangered Hyacinth Macaw, Anodorhynchus hyacinthinus, and the Hawk-headed Parrot, Deroptyus accipitrinus (Psittaciformes: Aves, and its significance for conservation plans

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Vitor de Oliveira Lunardi

2003-01-01

Full Text Available Neotropical parrots are among the most threatened groups of birds in the world, and many species are facing extinction in a near future. At the same time, the taxonomic position of many species remains unclear. Karyotype analysis has been used to elucidate the phylogenetic status of many bird groups, also providing important information for both in situ and ex situ conservation plans. The objective of the present study was to describe for the first time the karyotypes of the endangered Hyacinth Macaw, Anodorhynchus hyacinthinus, and of the Hawk-headed Parrot, Deroptyus accipitrinus. A diploid number of 2n = 70 and a karyotype similar to the main pattern previously found for the genera Ara, Cyanopsitta, Aratinga, Propyrrhura, Pionites, Pionopsitta, Nandayus, and Guaruba were found for both species. These karyotype descriptions can be a starting point for the genetic monitoring of these two declining species.

Chromosomal evolution and phylogenetic analyses in Tayassu ...

Indian Academy of Sciences (India)

Chromosome preparation and karyotype description. The material analysed consists of chromosome preparations of the tayassuid species T. pecari (three individuals) and. P. tajacu (four individuals) and were made from short-term lymphocyte cultures of whole blood samples using standard protocols (Chaves et al. 2002).

Cytogenetic studies and karyotype nomenclature of three wild canid species: maned wolf (Chrysocyon brachyurus), bat-eared fox (Otocyon megalotis) and fennec fox (Fennecus zerda).

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Pieńkowska-Schelling, A; Schelling, C; Zawada, M; Yang, F; Bugno, M; Ferguson-Smith, M

2008-01-01

We have analysed the chromosomes of three wild and endangered canid species: the maned wolf (Chrysocyon brachyurus), the bat-eared fox (Otocyon megalotis) and the fennec fox (Fennecuszerda) using classical and molecular cytogenetic methods. For the first time detailed and encompassing descriptions of the chromosomes are presented including the chromosomal assignment of nucleolar organizer regions and the 5S rRNA gene cluster. We propose a karyotype nomenclature with ideograms including more than 300 bands per haploid set for each of these three species which will form the basis for further research. In addition, we propose four basic different patterns of karyotype organization in the family Canidae. A comparison of these patterns with the most recent molecular phylogeny of Canidae revealed that the karyotype evolution of a species is not always strongly connected with its phylogenetic position. Our findings underline the need and justification for basic cytogenetic work in rare and exotic species. (c) 2008 S. Karger AG, Basel.

Clinical disease characteristics according to karyotype in Turner syndrome

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Chae Young Yeo

2010-02-01

Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

Karyotypes and heterochromatin variation (C-bands in Melipona species (Hymenoptera, Apidae, Meliponinae

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Rocha Marla Piumbini

1998-01-01

Full Text Available We describe the karyotypes of eight bee species of the genus Melipona and compare them in terms of heterochromatin content and location (C-banding technique. All species had 2n = 18 (females and n = 9 (males chromosomes, but a wide variation in heterochromatin content was detected among karyotypes. On the basis of these differences, the species were divided into two functional groups, one of them comprising species with a karyotype having a low heterochromatin content (M. bicolor bicolor, M. quadrifasciata, M. marginata, and M. asilvai, and the other species with a high heterochromatin content (M. seminigra fuscopilosa, M. capixaba, M. scutellaris, and M. captiosa. In the species with high heterochromatin content, heterochromatin occupied practically the entire extent of all chromosomes, with euchromatin being limited to the extremities, a fact that prevented observation of the centromere. In contrast, in the species with karyotypes having a low heterochromatin content, heterochromatin was visualized only in some chromosomes. In the chromosomes in which it was present, heterochromatin was located in the centromere or on the short arm. M. bicolor bicolor had the smallest heterochromatin content with only three chromosome pairs presenting heterochromatin in females. Increased heterochromatin content may be explained by interstitial and pericentromeric growth.

Karyotype description of possible new species of the Hypostomus ancistroides complex (Teleostei: Loricariidae and other Hypostominae - doi: 10.4025/actascibiolsci.v34i2.9318

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Horácio Ferreira Júlio Júnior

2012-03-01

Full Text Available Cytogenetic analyses were performed in four species of the Hypostominae subfamily, three from Hypostomus (Hypostomini genus and Rhinelepis aspera (Rhinelepini. Three populations of Hypostomus ancistroides were analyzed, which had 2n=68 chromosomes, but presented different karyotype formulas. Hypostomus regani and H. strigaticeps, both from Ivaí river, showed 2n=72 chromosomes with two distinct cytotypes. In turn, R. aspera of the upper Paraná river basin presented 2n=54 chromosome. Multiple Nucleolar Organizer Regions (NORs have been evidenced by silver nitrate staining in species of Hypostomus and single NOR in R. aspera. The observed variation in the chromosome number and the marked variability in karyotype formulas and NORs reveal a certain amount of karyotype variation in the genus Hypostomus suggesting the probable existence of cryptic species with independent chromosome traits. Therefore, our data can be of great value in discriminating species and understanding their chromosomal evolution.

Molecular phylogenetic reconstruction and localization of the (TTAGG)n telomeric repeats in the chromosomes of Acromyrmex striatus (Roger, 1863) suggests a lower ancestral karyotype for leafcutter ants (Hymenoptera).

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Pereira, Tássia Tatiane Pontes; Dos Reis, Ana Caroline Coelho Corrêa; Cardoso, Danon Clemes; Cristiano, Maykon Passos

2018-01-01

Chromosome counts and karyotype characterization have proved to be important features of a genome. Chromosome changes during the diversification of ants might play an important role, given the diversity and success of Formicidae. Comparative karyotype analyses on ants have enriched and helped ant systematics. Among leafcutter ants, two major chromosome counts have been described, one frequent in Atta Fabricius, 1804 (2n = 22 in all Atta spp. whose karyotype is known) and the other frequent in Acromyrmex Mayr, 1865 (2n = 38 in the majority of species whose karyotype is known). The main exception is Acromyrmex striatus (Roger, 1863), which harbors a diploid chromosome set of 22. Here we describe the use of fluorescence in situ hybridization (FISH) with telomeric probes with (TTAGG) 6 repeats to describe the telomere composition of A. striatus and to recover potential interstitial non-telomeric signals that may reflect fusion events during the evolution of leafcutter lineage from 38 to 22 chromosomes. Further, we reconstruct the ancestral chromosome numbers of the leafcutter clade based on a recently proposed molecular phylogenetic hypothesis and phylogenomic tree. Distinct signals have been observed in both extremities on the telomere chromosomes of A. striatus . Non-telomeric signals have not been retrieved in our analysis. It could be supposed that the low-numbered karyotype indeed represents the ancestral chromosome number of leafcutters. The phylogenetic reconstruction also recovered a low chromosome number from the diverse approaches implemented, suggesting that n = 11 is the most likely ancestral karyotype of the leafcutter ants and is a plesiomorphic feature shared between A. striatus and Atta spp.

Spectral Karyotyping. An new method for chromosome analysis

International Nuclear Information System (INIS)

Zhou Liying; Qian Jianxin; Guo Xiaokui; Dai Hong; Liu Yulong; Zhou Jianying

2006-01-01

Spectral Karyotyping (SKY) can reveal fine changes in Chromosome structure which could not be detected by G, R, Q banding before, has become an accurate, sensitive and reliable method for karyotyping, promoted the development of cell genetics to molecular level and has been used in medicine and radiological injury research. It also has the ability of analyzing 24 chromosomes on its once test run and, find implicated structure of chromosome changes, such as metathesis, depletion, amplification, rearrangement, dikinetochore, equiarm and maker-body, detect the abnormal change of stable Chromosome and calculate the bio-dose curve; The abnormal Chromosome detected by SKY can be adopted as early diagnosis, effective indexes of minor remaining changes for use of monitor of treatment and in the duration of follow up. This technique provides us a more advanced and effective method for relative gene cloning and the study of pathological mechanism of cancer. (authors)

The genome diversity and karyotype evolution of mammals

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Trifonov Vladimir A

2011-10-01

Full Text Available Abstract The past decade has witnessed an explosion of genome sequencing and mapping in evolutionary diverse species. While full genome sequencing of mammals is rapidly progressing, the ability to assemble and align orthologous whole chromosome regions from more than a few species is still not possible. The intense focus on building of comparative maps for companion (dog and cat, laboratory (mice and rat and agricultural (cattle, pig, and horse animals has traditionally been used as a means to understand the underlying basis of disease-related or economically important phenotypes. However, these maps also provide an unprecedented opportunity to use multispecies analysis as a tool for inferring karyotype evolution. Comparative chromosome painting and related techniques are now considered to be the most powerful approaches in comparative genome studies. Homologies can be identified with high accuracy using molecularly defined DNA probes for fluorescence in situ hybridization (FISH on chromosomes of different species. Chromosome painting data are now available for members of nearly all mammalian orders. In most orders, there are species with rates of chromosome evolution that can be considered as 'default' rates. The number of rearrangements that have become fixed in evolutionary history seems comparatively low, bearing in mind the 180 million years of the mammalian radiation. Comparative chromosome maps record the history of karyotype changes that have occurred during evolution. The aim of this review is to provide an overview of these recent advances in our endeavor to decipher the karyotype evolution of mammals by integrating the published results together with some of our latest unpublished results.

Identification of a structural chromosomal rearrangement in the karyotype of a root vole from Chernobyl

International Nuclear Information System (INIS)

Nadzhafova, R.S.; Bulatova, N.Sh.; Kozlovskii, A.I.; Ryabov, I.N.

1994-01-01

Karyological studies of rodents within a 30-km radius of the Chernobyl nuclear power plant revealed one female root vole (Microtus oeconomus) with an abnormal karyotype. The use of C, G, and AgNOR banding methods allowed determination that morphological changes in two nonhomologous autosomes, which were accompanied by rearrangements in distribution of G bands, heterochromatin, and NOR, are the result of a reciprocal translocation. Chromosomal aberrations were probably inherited or appeared in embryogenesis, since none of the analyzed cells of the studied vole had a normal karyotype. It is important to note that this rearrangement was detected five years after the meltdown. Both breaks and reunions of the chromosomes that participate in this rearrangement are probably located in regions that are not important for functioning of these chromosomes. Thus, it can be supposed that the detected rearrangement did not influence the viability of the vole. This karyotype was compared to a standard karyotype of a root vole from another area of the species range. The heteromorphism of the first pair of chromosomes in both voles, which was detected for the first time, is probably normal for the karyotype of M. oeconomus and is not linked with any radiation-induced intrachromosomal aberrations

Molecular phylogenetic reconstruction and localization of the (TTAGGn telomeric repeats in the chromosomes of Acromyrmex striatus (Roger, 1863 suggests a lower ancestral karyotype for leafcutter ants (Hymenoptera

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Tássia Tatiane Pontes Pereira

2018-01-01

Full Text Available Chromosome counts and karyotype characterization have proved to be important features of a genome. Chromosome changes during the diversification of ants might play an important role, given the diversity and success of Formicidae. Comparative karyotype analyses on ants have enriched and helped ant systematics. Among leafcutter ants, two major chromosome counts have been described, one frequent in Atta Fabricius, 1804 (2n = 22 in all Atta spp. whose karyotype is known and the other frequent in Acromyrmex Mayr, 1865 (2n = 38 in the majority of species whose karyotype is known. The main exception is Acromyrmex striatus (Roger, 1863, which harbors a diploid chromosome set of 22. Here we describe the use of fluorescence in situ hybridization (FISH with telomeric probes with (TTAGG6 repeats to describe the telomere composition of A. striatus and to recover potential interstitial non-telomeric signals that may reflect fusion events during the evolution of leafcutter lineage from 38 to 22 chromosomes. Further, we reconstruct the ancestral chromosome numbers of the leafcutter clade based on a recently proposed molecular phylogenetic hypothesis and phylogenomic tree. Distinct signals have been observed in both extremities on the telomere chromosomes of A. striatus. Non-telomeric signals have not been retrieved in our analysis. It could be supposed that the low-numbered karyotype indeed represents the ancestral chromosome number of leafcutters. The phylogenetic reconstruction also recovered a low chromosome number from the diverse approaches implemented, suggesting that n = 11 is the most likely ancestral karyotype of the leafcutter ants and is a plesiomorphic feature shared between A. striatus and Atta spp.

Evaluation of an automated karyotyping system for chromosome aberration analysis

International Nuclear Information System (INIS)

Prichard, H.M.

1987-01-01

Chromosome aberration analysis is a promising complement to conventional radiation dosimetry, particularly in the complex radiation fields encountered in the space environment. The capabilities of a recently developed automated karyotyping system were evaluated both to determine current capabilities and limitations and to suggest areas where future development should be emphasized. Cells exposed to radiometric chemicals and to photon and particulate radiation were evaluated by manual inspection and by automated karyotyping. It was demonstrated that the evaluated programs were appropriate for image digitization, storage, and transmission. However, automated and semi-automated scoring techniques must be advanced significantly if in-flight chromosome aberration analysis is to be practical. A degree of artificial intelligence may be necessary to realize this goal

Genomic and karyotypic variation in Drosophila parasitoids (Hymenoptera, Cynipoidea, Figitidae

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Vladimir Gokhman

2011-08-01

Full Text Available Drosophila melanogaster Meigen, 1830 has served as a model insect for over a century. Sequencing of the 11 additional Drosophila Fallen, 1823 species marks substantial progress in comparative genomics of this genus. By comparison, practically nothing is known about the genome size or genome sequences of parasitic wasps of Drosophila. Here, we present the first comparative analysis of genome size and karyotype structures of Drosophila parasitoids of the Leptopilina Förster, 1869 and Ganaspis Förster, 1869 species. The gametic genome size of Ganaspis xanthopoda (Ashmead, 1896 is larger than those of the three Leptopilina species studied. The genome sizes of all parasitic wasps studied here are also larger than those known for all Drosophila species. Surprisingly, genome sizes of these Drosophila parasitoids exceed the average value known for all previously studied Hymenoptera. The haploid chromosome number of both Leptopilina heterotoma (Thomson, 1862 and L. victoriae Nordlander, 1980 is ten. A chromosomal fusion appears to have produced a distinct karyotype for L. boulardi (Barbotin, Carton et Keiner-Pillault, 1979 (n = 9, whose genome size is smaller than that of wasps of the L. heterotoma clade. Like L. boulardi, the haploid chromosome number for G. xanthopoda is also nine. Our studies reveal a positive, but non linear, correlation between the genome size and total chromosome length in Drosophila parasitoids. These Drosophila parasitoids differ widely in their host range, and utilize different infection strategies to overcome host defense. Their comparative genomics, in relation to their exceptionally well-characterized hosts, will prove to be valuable for understanding the molecular basis of the host-parasite arms race and how such mechanisms shape the genetic structures of insect communities.

Chromosomal Diversity and Karyotype Evolution in South American Macaws (Psittaciformes, Psittacidae.

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Ivanete de Oliveira Furo

Full Text Available Most species of macaws, which represent the largest species of Neotropical Psittacidae, characterized by their long tails and exuberant colours, are endangered, mainly because of hunting, illegal trade and habitat destruction. Long tailed species seem to represent a monophyletic group within Psittacidae, supported by cytogenetic data. Hence, these species show karyotypes with predominance of biarmed macrochromosomes, in contrast to short tailed species, with a predominance of acro/telocentric macrochromosomes. Because of their similar karyotypes, it has been proposed that inversions and translocations may be the main types of rearrangements occurring during the evolution of this group. However, only one species of macaw, Ara macao, that has had its genome sequenced was analyzed by means of molecular cytogenetics. Hence, in order to verify the rearrangements, we analyzed the karyotype of two species of macaws, Ara chloropterus and Anodorhynchus hyacinthinus, using cross-species chromosome painting with two different sets of probes from chicken and white hawk. Both intra- and interchromosomal rearrangements were observed. Chicken probes revealed the occurrence of fusions, fissions and inversions in both species, while the probes from white hawk determined the correct breakpoints or chromosome segments involved in the rearrangements. Some of these rearrangements were common for both species of macaws (fission of GGA1 and fusions of GGA1p/GGA4q, GGA6/GGA7 and GGA8/GGA9, while the fissions of GGA 2 and 4p were found only in A. chloropterus. These results confirm that despite apparent chromosomal similarity, macaws have very diverse karyotypes, which differ from each other not only by inversions and translocations as postulated before, but also by fissions and fusions.

Karyotype variation in cultivars and spontaneous cocoa mutants (Theobroma cacao L.).

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Figueiredo, G S F; Melo, C A F; Souza, M M; Araújo, I S; Zaidan, H A; Pires, J L; Ahnert, D

2013-10-18

Four mutant cocoa accessions with morphological changes and a cultivar sample were karyomorphologically characterized. Slides were prepared by enzymatic digestion of the root meristem and squashed in 45% acetic acid, followed by 2% Giemsa staining. The chromosome number of 2n = 20 was seen in all accessions. The karyotype formula for Cacau Comum and Cacau Rui was 2n = 20m. Submetacentric chromosomes were observed in Cacau Pucala and Cacau Jaca, both with 2n = 18m + 2sm, but the karyotype formula for Cacau Sem Vidro was 2n = 16m + 4sm. Satellites were located on the long arm of the 1st and 2nd chromosome pairs of Cacau Comum, whereas Cacau Pucala had satellites on the 6th chromosome pair. Greater karyotypic variation in Cacau Sem Vidro was found, whose 1st and 2nd chromosome pairs had satellites on the long arm and 6th and 10th pairs had satellites on the short arm. Analysis revealed a lower average chromosome length in Cacau Comum (1.53 ± 0.026 µm) and a higher length in Cacau Sem Vidro (2.26 ± 0.038 µm). ANOVA revealed significant difference (P Theobroma cacao.

Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma

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Wang Shengyue

2011-07-01

Full Text Available Abstract Background Hepatocellular carcinoma (HCC is a worldwide malignant liver tumor with high incidence in China. Subchromosomal amplifications and deletions accounted for major genomic alterations occurred in HCC. Digital karyotyping was an effective method for analyzing genome-wide chromosomal aberrations at high resolution. Methods A digital karyotyping library of HCC was constructed and 454 Genome Sequencer FLX System (Roche was applied in large scale sequencing of the library. Digital Karyotyping Data Viewer software was used to analyze genomic amplifications and deletions. Genomic amplifications of genes detected by digital karyotyping were examined by real-time quantitative PCR. The mRNA expression level of these genes in tumorous and paired nontumorous tissues was also detected by real-time quantitative RT-PCR. Results A total of 821,252 genomic tags were obtained from the digital karyotyping library of HCC, with 529,162 tags (64% mapped to unique loci of human genome. Multiple subchromosomal amplifications and deletions were detected through analyzing the digital karyotyping data, among which the amplification of 7q21.3 drew our special attention. Validation of genes harbored within amplicons at 7q21.3 locus revealed that genomic amplification of SGCE, PEG10, DYNC1I1 and SLC25A13 occurred in 11 (21%, 11 (21%, 11 (21% and 23 (44% of the 52 HCC samples respectively. Furthermore, the mRNA expression level of SGCE, PEG10 and DYNC1I1 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts. Conclusions Our results indicated that subchromosomal region of 7q21.3 was amplified in HCC, and SGCE, PEG10 and DYNC1I1 were probable protooncogenes located within the 7q21.3 locus.

Identification of Proteins Related to Epigenetic Regulation in the Malignant Transformation of Aberrant Karyotypic Human Embryonic Stem Cells by Quantitative Proteomics

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Sun, Yi; Yang, Yixuan; Zeng, Sicong; Tan, Yueqiu; Lu, Guangxiu; Lin, Ge

2014-01-01

Previous reports have demonstrated that human embryonic stem cells (hESCs) tend to develop genomic alterations and progress to a malignant state during long-term in vitro culture. This raises concerns of the clinical safety in using cultured hESCs. However, transformed hESCs might serve as an excellent model to determine the process of embryonic stem cell transition. In this study, ITRAQ-based tandem mass spectrometry was used to quantify normal and aberrant karyotypic hESCs proteins from simple to more complex karyotypic abnormalities. We identified and quantified 2583 proteins, and found that the expression levels of 316 proteins that represented at least 23 functional molecular groups were significantly different in both normal and abnormal hESCs. Dysregulated protein expression in epigenetic regulation was further verified in six pairs of hESC lines in early and late passage. In summary, this study is the first large-scale quantitative proteomic analysis of the malignant transformation of aberrant karyotypic hESCs. The data generated should serve as a useful reference of stem cell-derived tumor progression. Increased expression of both HDAC2 and CTNNB1 are detected as early as the pre-neoplastic stage, and might serve as prognostic markers in the malignant transformation of hESCs. PMID:24465727

FISH with whole chromosome and telomeric probes demonstrates huge karyotypic reorganization with ITS between two species of Oryzomyini (Sigmodontinae, Rodentia): Hylaeamys megacephalus probes on Cerradomys langguthi karyotype.

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Nagamachi, Cleusa Yoshiko; Pieczarka, Julio Cesar; O'Brien, Patricia Caroline Mary; Pinto, Jamilly Amaral; Malcher, Stella Miranda; Pereira, Adenilson Leão; Rissino, Jorge das Dores; Mendes-Oliveira, Ana Cristina; Rossi, Rogério Vieira; Ferguson-Smith, Malcolm Andrew

2013-04-01

Rodentia comprises 42 % of living mammalian species. The taxonomic identification can be difficult, the number of species currently known probably being underestimated, since many species show only slight morphological variations. Few studies surveyed the biodiversity of species, especially in the Amazon region. Cytogenetic studies show great chromosomal variability in rodents, with diploid numbers ranging from 10 to 102, making it difficult to find chromosomal homologies by comparative G banding. Chromosome painting is useful, but only a few species of rodents have been studied by this technique. In this study, we sorted whole chromosome probes by fluorescence-activated cell sorting from two Hylaeamys megacephalus individuals, an adult female (2n = 54) and a fetus (2n = 50). We made reciprocal chromosome painting between these karyotypes and cross-species hybridization on Cerradomys langguthi (2n = 46). Both species belong to the tribe Oryzomyini (Sigmodontinae), which is restricted to South America and were collected in the Amazon region. Twenty-four chromosome-specific probes from the female and 25 from the fetus were sorted. Reciprocal chromosome painting shows that the karyotype of the fetus does not represent a new cytotype, but an unbalanced karyotype with multiple rearrangements. Cross-species hybridization of H. megacephalus probes on metaphases of C. langguthi shows that 11 chromosomes of H. megacephalus revealed conserved synteny, 10 H. megacephalus probes hybridized to two chromosomal regions and three hybridized to three regions. Associations were observed on chromosomes pairs 1-4 and 11. Fluorescence in situ hybridization with a telomeric probe revealed interstitial regions in three pairs (1, 3, and 4) of C. langguthi chromosomes. We discuss the genomic reorganization of the C. langguthi karyotype.

Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype.

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Ozsu, Elif; Mutlu, Gul Yesiltepe; Cizmecioglu, Filiz M; Ekingen, Gülsen; Muezzinoglu, Bahar; Hatun, Sukru

2013-01-01

Ovotesticular disorder of sexual development (DSD) is characterized by the presence of both ovarian and testicular tissues in the same individual. The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy. A 5-month-old boy presented with hypospadias, unilateral cryptorchidism, and a micropenis. Pelvic magnetic resonance imaging revealed a suspicious gonad tissue that is solid in structure in the right scrotum and a suspicious gonad that is cystic in structure in the left inguinal canal. He underwent a diagnostic laparoscopy. Cytogenetic analysis of peripheral blood revealed a 46,XX/47,XXY karyotype. Histopathologic examination of the left gonad showed ovarian tissue containing primordial follicles with ipsilateral undifferentiated tuba uterina. The right gonad showed immature testis tissue. He underwent left gonadectomy and hypospadias repair, and was raised as a male. Through this rare case, we highlight the importance of histological and cytogenetic investigation in DSD.

All males do not have 46 xy karyotype: A rare case report

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Ritesh Kumar Agrawala

2013-01-01

Full Text Available The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX. A 26-year-old male presented with bilateral gynecomastia, poor development of secondary sexual characters and azospermia. On evaluation patient had hypergonadotrophic hypogonadism and chromosomal analysis revealed 46 XX karyotype. The ultrasound revealed no Mullerian structures. Fluorescent in situ hybridization (FISH showed sex determining region of Y chromosome (SRY gene locus on X chromosome.

[X tetrasomy (48,XXXX karyotype) in a girl with altered behavior].

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Rodado, Maria José; Manchón Trives, Irene; Lledó Bosch, Belén; Galán Sánchez, Francisco

2010-07-01

We report the case of a 14-year-old girl with mental retardation and dysmorphic features referred to child psychiatry because of altered behavior at school. Karyotyping (GTG banding), in situ fluorescent hybridization (FISH) and molecular study of parental origin by polymorphic STS were performed. Genetic study revealed a 48,XXXX karyotype with a maternal origin of the X-tetrasomy. The mechanism was successive non-dysjunction at meiosis I and II. The interest of this case lies in the rarity of the chromosomal anomaly and its late diagnosis, leading to a failure to adapt the girl's education to her needs, with consequences for her psyche. Copyright © 2010 SEP y SEPB. Published by Elsevier Espana. All rights reserved.

The Influence of Single Nucleotide Polymorphism Microarray-Based Molecular Karyotype on Preimplantation Embryonic Development Potential.

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Gang Li

Full Text Available In order to investigate the influence of the molecular karyotype based on single nucleotide polymorphism (SNP microarray on embryonic development potential in preimplantation genetic diagnosis (PGD, we retrospectively analyzed the clinical data generated by PGD using embryos retrieved from parents with chromosome rearrangements in our center. In total, 929 embryos from 119 couples had exact diagnosis and development status. The blastocyst formation rate of balanced molecular karyotype embryos was 56.6% (276/488, which was significantly higher than that of genetic imbalanced embryos 24.5% (108/441 (P35 respectively. Blastocyst formation rates of male and female embryos were 44.5% (183/411 and 38.8% (201/518 respectively, with no significant difference between them (P>0.05. The rates of balanced molecular karyotype embryos vary from groups of embryos with different cell numbers at 68 hours after insemination. The blastocyst formation rate of embryos with 6-8 cells (48.1% was significantly higher than that of embryos with 8 cells (42.9% (P8 cells, embryos with 6-8 blastomeres have higher rate of balanced molecular karyotype and blastocyst formation.

Karyotype evolution in harvestmen of the suborder Cyphophthalmi (Opiliones)

Czech Academy of Sciences Publication Activity Database

Svojanovská, H.; Nguyen, Petr; Hiřman, M.; Tuf, I. H.; Wahab, R. A.; Haddad, C. R.; Šťáhlavský, F.

2016-01-01

Roč. 148, 2-3 (2016), s. 227-236 ISSN 1424-8581 R&D Projects: GA ČR(CZ) GP14-35819P Institutional support: RVO:60077344 Keywords : 18S rDNA * FISH * karyotype evolution Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.354, year: 2016

The karyotype and taxonomic status of Cryptomys hottentotus darlingi

African Journals Online (AJOL)

hypotonic solution. The animals were injecled subcutane- ously with yeasl for three consecutive days before colchicine injection to increase the mitotic rate in the bone marrow cells (Lee & Elder 1980). C-banded karyotypes were prepared by the barium hydroxide lechnique of. Sumner (1972). Nomenclalure for centromeric ...

Karyotype studies in some species of the family annonaceae ...

African Journals Online (AJOL)

A pair of satellited chromosomes was observed in the genome of Greenwayodendron suaveolens and Cleistopholis patens. The centromeric positions in the species of ... The karyotypic patterns suggest that there is no evidence of chromosome rearrangement in their evolution. IFE Journal of Science Vol. 9 (2) 2007 pp.

Dynamics of Tumor Heterogeneity Derived from Clonal Karyotypic Evolution

Directory of Open Access Journals (Sweden)

Ashley M. Laughney

2015-08-01

Full Text Available Numerical chromosomal instability is a ubiquitous feature of human neoplasms. Due to experimental limitations, fundamental characteristics of karyotypic changes in cancer are poorly understood. Using an experimentally inspired stochastic model, based on the potency and chromosomal distribution of oncogenes and tumor suppressor genes, we show that cancer cells have evolved to exist within a narrow range of chromosome missegregation rates that optimizes phenotypic heterogeneity and clonal survival. Departure from this range reduces clonal fitness and limits subclonal diversity. Mapping of the aneuploid fitness landscape reveals a highly favorable, commonly observed, near-triploid state onto which evolving diploid- and tetraploid-derived populations spontaneously converge, albeit at a much lower fitness cost for the latter. Finally, by analyzing 1,368 chromosomal translocation events in five human cancers, we find that karyotypic evolution also shapes chromosomal translocation patterns by selecting for more oncogenic derivative chromosomes. Thus, chromosomal instability can generate the heterogeneity required for Darwinian tumor evolution.

PCR-based karyotyping of Anopheles gambiae inversion 2Rj identifies the BAMAKO chromosomal form

Directory of Open Access Journals (Sweden)

Conway David J

2007-10-01

Full Text Available Abstract Background The malaria vector Anopheles gambiae is polymorphic for chromosomal inversions on the right arm of chromosome 2 that segregate nonrandomly between assortatively mating populations in West Africa. One such inversion, 2Rj, is associated with the BAMAKO chromosomal form endemic to southern Mali and northern Guinea Conakry near the Niger River. Although it exploits a unique ecology and both molecular and chromosomal data suggest reduced gene flow between BAMAKO and other A. gambiae populations, no molecular markers exist to identify this form. Methods To facilitate study of the BAMAKO form, a PCR assay for molecular karyotyping of 2Rj was developed based on sequences at the breakpoint junctions. The assay was extensively validated using more than 700 field specimens whose karyotypes were determined in parallel by cytogenetic and molecular methods. As inversion 2Rj also occurs in SAVANNA populations outside the geographic range of BAMAKO, samples were tested from Senegal, Cameroon and western Guinea Conakry as well as from Mali. Results In southern Mali, where 2Rj polymorphism in SAVANNA populations was very low and most of the 2Rj homozygotes were found in BAMAKO karyotypes, the molecular and cytogenetic methods were almost perfectly congruent. Elsewhere agreement between the methods was much poorer, as the molecular assay frequently misclassified 2Rj heterozygotes as 2R+j standard homozygotes. Conclusion Molecular karyotyping of 2Rj is robust and accurate on 2R+j standard and 2Rj inverted homozygotes. Therefore, the proposed approach overcomes the lack of a rapid tool for identifying the BAMAKO form across developmental stages and sexes, and opens new perspectives for the study of BAMAKO ecology and behaviour. On the other hand, the method should not be applied for molecular karyotyping of j-carriers within the SAVANNA chromosomal form.

Care of women with XY karyotype

DEFF Research Database (Denmark)

Jorgensen, Pernille Bach; Kjartansdóttir, Kristín Rós; Fedder, Jens

2010-01-01

OUTCOME MEASURE(S): Evaluation of etiology, diagnosis, treatment, and associated disorders in XY women. RESULT(S): Many gene mutations can cause abnormal fetal development leading to androgen insensitivity syndrome or gonadal dysgenesis disorders. Females with these disorders have an XY karyotype but look...... like girls. They are mostly diagnosed at puberty, and the condition will often lead to serious psychological problems. Increased risk of malignancies and problems with pregnancy and infertility are other aspects that should be considered. This guideline will aid doctors in caring for XY females...

The relationship of initial embryo crown--rump length to pregnancy outcome and abortus karyotype based on new growth curves for the 2-31 mm embryo.

Science.gov (United States)

Dickey, R P; Gasser, R F; Olar, T T; Curole, D N; Taylor, S N; Matulich, E M; West, J D; Tsien, F

1994-02-01

The objective of this study was to determine if measurement of initial crown--rump length (CRL) is helpful in predicting low birth weight, newborn length, spontaneous abortions, or abortus karyotype. We measured CRL prospectively in 837 consecutive singleton pregnancies at the time a heart rate was first detectable with transvaginal ultrasonography and compared these measurements to normal values for the 10th through 90th centiles determined from 227 transvaginal ultrasound measurements in in-vitro fertilization and gamete intra-Fallopian transfer pregnancies with known ovulation dates. The relationship of initial CRL to birth weight and length and to abortion and abortus karyotype was analysed after all pregnancies had delivered. Initial CRL measured after the 28th post-ovulation day was predictive of subsequent abortion, but not of low birth weight or length. The abortion rate was 3.3% [95% confidence interval (CI) 1.5%, 5.1%] when initial CRL > or = 50th centile, compared to 19.4% (95% CI 15.4%, 23.4%) when aborti. These results indicate that initial CRL measured after the 28th post-ovulation day may help to identify pregnancies at increased risk of abortion due to abnormal karyotypes.

Karyotype and nuclear DNA content of Trichomycterus areolatus (Siluriformes, Trichomycteridae

Directory of Open Access Journals (Sweden)

Nelson Colihueque

2006-01-01

Full Text Available Cytogenetic analysis of Trichomycterus areolatus, collected from the Tijeral and Huilma Rivers in southern Chile has shown a diploid chromosome number of 2n = 54, a fundamental number of FN = 106, and a karyotypic formula of 44m + 8sm + 2st. Intra-individual polymorphism of chromosome number (2n = 54, 55 and 56 in specimens from the Huilma River has also been documented, providing further evidence of the occurrence of this phenomenon in Trichomycterus. The karyotype exhibited large chromosome pairs: metacentric pairs 1 (relative length 7.54%, 2 (5.75% and 3 (5.09%, submetacentric pair 23 (5.25%, and subtelocentic pair 27 (5.28%. Nuclear DNA content analysis showed an average value of 5.04 ± 1.09 pg/nucleus. This DNA content is higher than the mean value described for other species in this genus.

T-cell acute lymphoblastic leukemia associated with complex karyotype and SET-NUP214 rearrangement: a case study and review of the literature.

Science.gov (United States)

Lee, Sang-Guk; Park, Tae Sung; Cho, Sun Young; Lim, Gayoung; Park, Gwang Jin; Oh, Seung Hwan; Cho, Eun Hae; Chong, So Young; Huh, Ji Young

2011-01-01

SET-NUP214 rearrangements have been rarely reported in T-cell acute lymphoblastic leukemia (T-ALL), acute undifferentiated leukemia, and acute myeloid leukemia, and most documented cases have been associated with normal karyotypes in conventional cytogenetic analyses. Here, we describe a novel case of T-ALL associated with a mediastinal mass and a SET-NUP214 rearrangement, which was masked by a complex karyotype at the time of initial diagnosis. Using multiplex reverse transcriptase-polymerase chain reaction analysis, we detected a cryptic SET-NUP214 rearrangement in our patient. As only 11 cases (including the present study) of T-ALL with SET-NUP214 rearrangement have been reported, the clinical features and treatment outcomes have not been fully determined. Further studies are necessary to evaluate the incidence of SET-NUP214 rearrangement in T-ALL patients and the treatment responses as well as prognosis of these patients.

46,XX Karyotype in a Male with Ambigious Genitalia: A Case Report

Directory of Open Access Journals (Sweden)

Mahmut Balkan

2004-01-01

Full Text Available 40 days old case who were diagnosed with ambigious genitalia were sentto laboratory of cytogenetics. Mother was 26 years old and have to alivechildren and case were the second child and applied to Child SurgeryDepartment due to continiously vomiting and uneasy conditions. Sexualdevelopment were as male on physical examinations. Cell culture wasapplied for chromosomal analysis. Slides were stained with GiemsaBanding Staining (GTG and 100 cells were totaly counted and karyotypingwere done with 15 metaphase. Chromosome with 46,XX karyotype. Casewere taken under consideration of congenital adrenel hyperplasia afterevalution of karyotype. Case were discussed according to by information ofpresents literatures.

Karyotype divergence and spreading of 5S rDNA sequences between genomes of two species: darter and emerald gobies ( Ctenogobius , Gobiidae).

Science.gov (United States)

Lima-Filho, P A; Bertollo, L A C; Cioffi, M B; Costa, G W W F; Molina, W F

2014-01-01

Karyotype analyses of the cryptobenthic marine species Ctenogobius boleosoma and C. smaragdus were performed by means of classical and molecular cytogenetics, including physical mapping of the multigene 18S and 5S rDNA families. C. boleosoma has 2n = 44 chromosomes (2 submetacentrics + 42 acrocentrics; FN = 46) with a single chromosome pair each carrying 18S and 5S ribosomal sites; whereas C. smaragdus has 2n = 48 chromosomes (2 submetacentrics + 46 acrocentrics; FN = 50), also with a single pair bearing 18S rDNA, but an extensive increase in the number of GC-rich 5S rDNA sites in 21 chromosome pairs. The highly divergent karyotypes among Ctenogobius species contrast with observations in several other marine fish groups, demonstrating an accelerated rate of chromosomal evolution mediated by both chromosomal rearrangements and the extensive dispersion of 5S rDNA sequences in the genome. © 2014 S. Karger AG, Basel.

Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

Science.gov (United States)

Ros-Pérez, Purificación; Regidor, Francisco J; Colino, Esmeralda; Martínez-Payo, Cristina; Barroso, Eva; Heath, Karen E

2012-06-29

The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

Directory of Open Access Journals (Sweden)

Ros-Pérez Purificación

2012-06-01

Full Text Available Abstract Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. Case presentation The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY. Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1. Conclusion Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.

Subchromosomal karyotype evolution in Equidae.

Science.gov (United States)

Musilova, P; Kubickova, S; Vahala, J; Rubes, J

2013-04-01

Equidae is a small family which comprises horses, African and Asiatic asses, and zebras. Despite equids having diverged quite recently, their karyotypes underwent rapid evolution which resulted in extensive differences among chromosome complements in respective species. Comparative mapping using whole-chromosome painting probes delineated genome-wide chromosome homologies among extant equids, enabling us to trace chromosome rearrangements that occurred during evolution. In the present study, we performed subchromosomal comparative mapping among seven Equidae species, representing the whole family. Region-specific painting and bacterial artificial chromosome probes were used to determine the orientation of evolutionarily conserved segments with respect to centromere positions. This allowed assessment of the configuration of all fusions occurring during the evolution of Equidae, as well as revealing discrepancies in centromere location caused by centromere repositioning or inversions. Our results indicate that the prevailing type of fusion in Equidae is centric fusion. Tandem fusions of the type telomere-telomere occur almost exclusively in the karyotype of Hartmann's zebra and are characteristic of this species' evolution. We revealed inversions in segments homologous to horse chromosomes 3p/10p and 13 in zebras and confirmed inversions in segments 4/31 in African ass, 7 in horse and 8p/20 in zebras. Furthermore, our mapping results suggested that centromere repositioning events occurred in segments homologous to horse chromosomes 7, 8q, 10p and 19 in the African ass and an element homologous to horse chromosome 16 in Asiatic asses. Centromere repositioning in chromosome 1 resulted in three different chromosome types occurring in extant species. Heterozygosity of the centromere position of this chromosome was observed in the kiang. Other subtle changes in centromere position were described in several evolutionary conserved chromosomal segments, suggesting that tiny

Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia.

Science.gov (United States)

Sidhu, Manpreet; Kale, Alka D; Kotrashetti, Vijayalakshmi S

2012-09-01

Hereditary ectodermal dysplasia is a genetic recessive trait characterized by hypohydrosis, hypotrichosis, and hypodontia. The affected individual show characteristic physiognomy like protruded forehead, depressed nasal bridge, periorbital wrinkling, protruded lips, etc. There is marked decrease in sweat and salivary secretion. Due to skin involvement palm and sole ridge patterns are disrupted. In this study an attempt has been made to classify the affected members according to the degree of penetrance by pedigree analysis and also study karyotyping for cytogenetics, dermatoglyphic analysis for the various ridge patterns and variations in the number of sweat glands by sweat pore analysis in affected individuals. A total of five families who were affected with ectodermal dysplasia were considered. Pedigree analysis was drawn up to three generation by obtaining history. Dermatoglyphics and sweat pore analysis was done by obtaining palm and finger print impression using stamp pad ink. Karyotyping was done by collecting 3-5 ml peripheral blood. Karyotyping was prepared using lymphocyte culture. Chromosomes were examined at 20 spreads selected randomly under ×100 magnification. Results were analyzed by calculating mean values and percentage was obtained. Karyotyping did not show any abnormalities, dermatoglyphic analysis and sweat pore counts showed marked variations when compared with normal. Moreover, pedigree analysis confirmed the status of the disease as that of the recessive trait. Large number of affected patients needs to be evaluated for dermatoglypic analysis. Genetic aspect of the disease needs to be looked into the molecular level in an attempt to locate the gene locus responsible for ectodermal dysplasia and its manifestation.

Chromosome Mis-segregation Generates Cell-Cycle-Arrested Cells with Complex Karyotypes that Are Eliminated by the Immune System.

Science.gov (United States)

Santaguida, Stefano; Richardson, Amelia; Iyer, Divya Ramalingam; M'Saad, Ons; Zasadil, Lauren; Knouse, Kristin A; Wong, Yao Liang; Rhind, Nicholas; Desai, Arshad; Amon, Angelika

2017-06-19

Aneuploidy, a state of karyotype imbalance, is a hallmark of cancer. Changes in chromosome copy number have been proposed to drive disease by modulating the dosage of cancer driver genes and by promoting cancer genome evolution. Given the potential of cells with abnormal karyotypes to become cancerous, do pathways that limit the prevalence of such cells exist? By investigating the immediate consequences of aneuploidy on cell physiology, we identified mechanisms that eliminate aneuploid cells. We find that chromosome mis-segregation leads to further genomic instability that ultimately causes cell-cycle arrest. We further show that cells with complex karyotypes exhibit features of senescence and produce pro-inflammatory signals that promote their clearance by the immune system. We propose that cells with abnormal karyotypes generate a signal for their own elimination that may serve as a means for cancer cell immunosurveillance. Copyright © 2017 Elsevier Inc. All rights reserved.

Karyotype and nucleic acid content in Zantedeschia aethiopica Spr ...

African Journals Online (AJOL)

DR. NJ TONUKARI

2012-07-03

Jul 3, 2012 ... Analysis of karyotype, nucleic deoxyribonucleic acid (DNA) content and sodium dodecyl sulfate polyacrylamide ... base pairs) for Z. aethiopica and 1144.26 ± 0.05 picograms (equivalent to 1144.26 mega base pairs) for Z. elliottiana. ... ml ice-cold nuclei-isolation buffer A of the Partec high resolution. DNA kit ...

Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype.

Science.gov (United States)

Vergara-Mendez, Laura Daniela; Talero-Gutiérrez, Claudia; Velez-Van-Meerbeke, Alberto

2018-03-01

We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down's syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al. 2008; Li et al. 2004; Park et al. 1995; Day et al. 1963).

Canine osteosarcoma karyotypes from an original tumor, its metastasis, and tumor cells in tissue culture

International Nuclear Information System (INIS)

Taylor, N.; Shifrine, M.; Wolf, H.G.; Trommershausen-Smith, A.

1975-01-01

Radiation-induced osteosarcoma, its metastasis, and cells grown in tissue culture were karyotyped. Both hypodiploid and hyperdiploid stem lines were observed. The hypodiploid line contained 45-55 chromosomes with 10 to 15 abnormal metacentric and submetacentric chromosomes and one subtelocentric marker. The hyperdiploid line contained 90 to 105 chromosomes with 20 to 30 abnormal metacentric and submetacentric chromosomes with two subtelocentric markers. Karyotypic analysis can be used to monitor osteosarcomas maintained in tissue culture

Karyotype in Pediatric Acute Lymphoblastic Leukemia: Impact On Clinical Presentation and Duration of First Remission

International Nuclear Information System (INIS)

Khairy, A.M.D.; EL-SISSY, M.D.

2003-01-01

In this study we are aiming at investigating the correlation between karyotype and the clinico pathologic features of pediatric acute lymphoblastic leukemia, duration of first remission and outcome of patients. Material and Methods: A total of 40 pediatric patients with the diagnosis of acute ]lymphoblastic leukemia (ALL) were included in this study. The patients were treated according to ALL P.NCI III/98 protocol used at the Pediatric Oncology Unit, National Cancer Institute, Cairo University. Analyzing the patients with respect to their chromosomal pattern; the majority of patients (17/40, 42.5%) showed a pseudo diploid karyotype. Their mean age was 10.2±4.8 years, M/F ratio 2.4: I. Massive hepatosplenomegaly (HSM) was encountered in 64.7%. The mean total leucocyte count (TLC) was 66.53±5.2 cells per μl. Their mean first complete remission (CR]) was 11.05±2.3 months, EFS was 40% at 12 months and 17.78% at 24 months. Patients with normal karyotype came next, representing ]3/40 (32.5%). Their mean age was 8.4±1.8 years, M/F 0.8: I. Massive HSM was found in 62.5%. The mean TLC was 78.74±3.8 cells per μl. Their mean CR 1 was I I.62±1.2 months, EFS was 41.67% at 12 months and 33.33% at 24 months. The third group represented patients with hyper diploidy (8/40; 20%). Their mean age was 8. 8±3. I years, M/F 7: I. Massive HSM was found in 50%. The mean TLC was 45.16±3.1 cells per μl], their mean CR I was 18.] 0±3.4 months, EFS was 75% at 12 months and 62.5% at 24 months. The least group showed a hypo diploid pattern (5/40; 12.5%). Their mean age was] 3±2.6 years, all were males. Massive HSM was encountered in 100%. The mean TLC was 20.00±2.9 cells per Ill. Their mean CRI was 10±2.8 months. Egyptian patients with childhood ALL who have hyper diploid karyotype, specially those having >50 chromosomes carry a better prognosis than patients with other chromosomal abnormalities. Pseudo diploid karyotype is the most frequent among Egyptian ALL cases and this could

Karyotype Reorganization in the Hokou Gecko (Gekko hokouensis, Gekkonidae): The Process of Microchromosome Disappearance in Gekkota

OpenAIRE

Srikulnath, Kornsorn; Uno, Yoshinobu; Nishida, Chizuko; Ota, Hidetoshi; Matsuda, Yoichi

2015-01-01

The Hokou gecko (Gekko hokouensis: Gekkonidae, Gekkota, Squamata) has the chromosome number 2n = 38, with no microchromosomes. For molecular cytogenetic characterization of the gekkotan karyotype, we constructed a cytogenetic map for G. hokouensis, which retains the ancestral karyotype of Gekkota, with 86 functional genes, and compared it with cytogenetic maps for four Toxicofera species that have many microchromosomes (Elaphe quadrivirgata, Varanus salvator macromaculatus, Leiolepis reevesii...

Chromosome evolution in kangaroos (Marsupialia: Macropodidae): cross species chromosome painting between the tammar wallaby and rock wallaby spp. with the 2n = 22 ancestral macropodid karyotype.

Science.gov (United States)

O'Neill, R J; Eldridge, M D; Toder, R; Ferguson-Smith, M A; O'Brien, P C; Graves, J A

1999-06-01

Marsupial mammals show extraordinary karyotype stability, with 2n = 14 considered ancestral. However, macropodid marsupials (kangaroos and wallabies) exhibit a considerable variety of karyotypes, with a hypothesised ancestral karyotype of 2n = 22. Speciation and karyotypic diversity in rock wallabies (Petrogale) is exceptional. We used cross species chromosome painting to examine the chromosome evolution between the tammar wallaby (2n = 16) and three 2n = 22 rock wallaby species groups with the putative ancestral karyotype. Hybridization of chromosome paints prepared from flow sorted chromosomes of the tammar wallaby to Petrogale spp., showed that this ancestral karyotype is largely conserved among 2n = 22 rock wallaby species, and confirmed the identity of ancestral chromosomes which fused to produce the bi-armed chromosomes of the 2n = 16 tammar wallaby. These results illustrate the fission-fusion process of karyotype evolution characteristic of the kangaroo group.

Karyotype analysis of three Solanum plants using combined PI-DAPI ...

African Journals Online (AJOL)

ajl yemi

2011-12-19

Dec 19, 2011 ... OLYMPUS epifluorescence microscope, and their images were captured with a CoolSNAP-CCD video camera using Meta Imaging. Series software. In this study, Adobe Photoshop software was used to take photos of the chromosomes, and karyotype analysis was studied by Li and. Chen (1985) methods.

FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

DEFF Research Database (Denmark)

Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

2010-01-01

Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function.......Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

Reassessment of genome size in turtle and crocodile based on chromosome measurement by flow karyotyping: close similarity to chicken

Science.gov (United States)

Kasai, Fumio; O'Brien, Patricia C. M.; Ferguson-Smith, Malcolm A.

2012-01-01

The genome size in turtles and crocodiles is thought to be much larger than the 1.2 Gb of the chicken (Gallus gallus domesticus, GGA), according to the animal genome size database. However, GGA macrochromosomes show extensive homology in the karyotypes of the red eared slider (Trachemys scripta elegans, TSC) and the Nile crocodile (Crocodylus niloticus, CNI), and bird and reptile genomes have been highly conserved during evolution. In this study, size and GC content of all chromosomes are measured from the flow karyotypes of GGA, TSC and CNI. Genome sizes estimated from the total chromosome size demonstrate that TSC and CNI are 1.21 Gb and 1.29 Gb, respectively. This refines previous overestimations and reveals similar genome sizes in chicken, turtle and crocodile. Analysis of chromosome GC content in each of these three species shows a higher GC content in smaller chromosomes than in larger chromosomes. This contrasts with mammals and squamates in which GC content does not correlate with chromosome size. These data suggest that a common ancestor of birds, turtles and crocodiles had a small genome size and a chromosomal size-dependent GC bias, distinct from the squamate lineage. PMID:22491763

The ancestral chromosomes of Dromiciops gliroides (Microbiotheridae), and its bearings on the karyotypic evolution of American marsupials

OpenAIRE

Su?rez-Villota, Elkin Y.; Haro, Ronie E.; Vargas, Rodrigo A.; Gallardo, Milton H.

2016-01-01

Background The low-numbered 14-chromosome karyotype of marsupials has falsified the fusion hypothesis claiming ancestrality from a 22-chromosome karyotype. Since the 14-chromosome condition of the relict Dromiciops gliroides is reminecent of ancestrality, its interstitial traces of past putative fusions and heterochromatin banding patterns were studied and added to available marsupials? cytogenetic data. Fluorescent in situ hybridization (FISH) and self-genomic in situ hybridization (self-GIS...

Molecular cytogenetic analyses of Epinephelus bruneus and Epinephelus moara (Perciformes, Epinephelidae

Directory of Open Access Journals (Sweden)

Minglan Guo

2014-06-01

Full Text Available Genus Epinephelus (Perciformes, Epinephelidae, commonly known as groupers, are usually difficult in species identification for the lack and/or change of morphological specialization. In this study, molecular cytogenetic analyses were firstly performed to identify the closely related species Epinephelus bruneus and E. moara in this genus. The species-specific differences of both fish species showed in karyotype, chromosomal distribution of nucleolar organizer regions (NORs and localization of 18S rDNA. The heterochromatin (interstitial C-bands and distribution pattern of telomere (TTAGGGn in E. bruneus revealed the chromosomal rearrangements and different karyotypic evolutionary characteristics compared to those in E. moara. The cytogenetic data suggested that the lineages of E. bruneus and E. moara were recently derived within the genus Epinephelus, and E. moara exhibited more plesiomorphic features than E. bruneus. All results confirmed that E. moara, which has long been considered a synonym of E. bruneus, is a distinct species in the family Epinephelidae. In addition, molecular cytogenetic analyses are useful in species differentiation and phylogenetic reconstruction in groupers.

Agnathia-holoprosencephaly associated with a 46,XY,-21,+t(21q;21q) karyotype

Energy Technology Data Exchange (ETDEWEB)

Niedermeyer, K.K.; McCorquodale, M.M.; Burton, B.K. [Univ. of Illinois, Chicago, IL (United States)

1994-09-01

We report an unusual case of agnathia-holoprosencephaly associated with Down syndrome due to a 21/21 translocation. The patient presented prenatally at 21 wks gestation. A fetal ultrasound revealed multiple CNS anomalies including hydrocephalus, compressed cerebellum, absent septum pellucidum and possible cranial meningocele or encephalocele. High resolution ultrasound & fetal karyotype were recommended. The patient refused & elected to have a pregnancy termination. Chromosomal analysis performed on products of conception revealed a 46,XY,-21,+t(21q;21q) karyotype. Fluorescence in situ hybridization was performed and confirmed the 21/21 translocation chromosome. An autopsy revealed agnathia and multiple CNS anomalies including absence of the septum pellucidum, absence of the corpus callosum, arhinencephaly, an occiptal meningoencephalocele, dilation of the lateral ventricles, and extensive dysgenesis & heterotopias of the central cerebrum & mid-brain. Additional abnormalities included a persistent left superior vena cava, atrial & ventricular septal defects, irregular length of the fingers with absence of the middle phalanges of the right 2nd and 5th & left 5th digits and bilateral simian creases. Agnathia can be an isolated abnormality but often is associated with holoprosencephaly and/or situs inversus. The majority of familial case of agnathis-holoprosencephaly was caused by an inherited unbalanced translocation resulting in duplication of 6p and monosomy of 18p. Our patient had a translocation form of trisomy 21 but did not have a phenotype consistent with Down syndrome. Trisomy 21 has not been previously reported in other cases of agnathia-holoprosencephaly. Whether the chromosomal abnormality caused the phenotypic abnormalities or if it is a coincidental finding cannot be determined.

Karyotypes of Akodon orophilus Osgood 1913 and Thomasomys sp. (Rodentia: Sigmodontinae from Huánuco, Peru

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Víctor Pacheco

2012-10-01

Full Text Available Conventional chromosomal preparations were made of three native mice from Huánuco, Peru: a male and a female of Thomasomys sp., and a male of Akodon orophilus. Thomasomys sp. had a karyotype of 2n = 42, XY (n = 21, meanwhile A. orophilus presented 2n = 22, XY (n = 11. Comparisons between chromosomal pairs from the existent literature indicate that both are new karyotypes. Thomasomys sp. has a distinct sexual Y chromosome, the only metacentric (m reported for the genus. The chromosomes X and Y of A. orophilus are acrocentrics (a; and the length of chromosome Y (2/3 of the length of X distinguishes A. orophilus from other congeneric. Because the structural differences between the sexual chromosomes usually generates mechanism of reproductive isolation at intraspecific level and are bigger still in interspecific crosses, we concluded that the karyotypes reported here support the validity of the species A. orophilus and suggest that Thomasomys sp. represents a new species to science.

Karyotypic characterization of Trachemys dorbigni (Testudines: Emydidae) and Chelonoidis (Geochelone) donosobarrosi (Testudines: Testudinidae), two species of Cryptodiran turtles from Argentina.

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Martinez, Pablo A; Boeris, Juan M; Sánchez, Julieta; Pastori, María C; Bolzán, Alejandro D; Ledesma, Mario A

2009-12-01

We describe for the first time the karyotypes of two species of Cryptodiran turtles from Argentina, namely, Trachemys dorbigni (Emydidae) and Chelonoidis (Geochelone) donosobarrosi (Testudinidae). The karyotype of T. dorbigni (2n = 50) consists of 13 pairs of macrochromosomes and 12 pairs of microchromosomes, whereas the karyotype of C. donosobarrosi (2n = 52) consists of 11 pairs of macrochromosomes and 15 pairs of microchromosomes. Fluorescence in situ hybridization (FISH) with a (TTAGGG)n telomeric probe showed that the chromosomes of these species have four telomeric signals, two at each end, indicating that none of the chromosomes of T. dorbigni and C. donosobarrosi are telocentric. The fact that no interstitial telomeric signals were observed after FISH, suggests that interstitial telomeric sequences did not have a major role in the chromosomal evolution of these species. Additional data will be needed to elucidate if interstitial telomeric sequences have a major role in the karyotypic evolution of Testudines.

Karyotype characterization and nucleolar organizer regions of marsupial species (Didelphidae from areas of Cerrado and Atlantic Forest in Brazil

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Núbia P. Pereira

2008-01-01

Full Text Available The karyotypes of 23 specimens belonging to 16 species from nine genera of Brazilian marsupials (family Didelphidae were studied. The animals were collected in eight localities of Cerrado or Atlantic Forest biomes in the states of Goiás, Tocantins and São Paulo. The karyotypes were analyzed after conventional Giemsa staining and silver staining of the nucleolus organizer regions (Ag-NORs. New karyotypic data were obtained for Gracilinanus microtarsus (2n = 14, FN = 24, Marmosops paulensis (2n = 14, FN = 24 , Micoreus paraguayanus (2n = 14, FN = 20 and Monodelphis rubida (2n = 18, FN = 32 and are discussed in detail. The karyotypes of G. microtarsus , M. paulensis and M. paraguayanus include three large pairs of submetacentrics (pairs 1, 2 and 3 and a medium-sized metacentric or submetacentric pair 4. Pairs 5 and 6 are small submetacentrics in G. microtarsus and M. paulensis and acrocentrics in M. paraguayanus . M. paulensis presented a single Ag-NOR in pair 6 (6p6p, while M. paraguayanus exhibited multiple Ag-NORs in pairs 5 and 6 (5pq5pq6p6p. There was variation in size and morphology of the sex chromosomes among these species. Monodelphis rubida presented a karyotype with 2n = 18 and FN = 32 composed of a large submetacentric pair 1, a medium-sized metacentric pair 2 and six pairs of submetacentrics (pairs 3 through 8. The X was a small acrocentric and the Y was dot-like. A single Ag-NOR bearing pair (5p5p characterized M. rubida. Relevant karyotypic information was obtained for 19 specimens belonging to 12 species collected in areas sampled for the first time [ Caluromys lanatus and C. philander (2n = 14, FN = 20, Gracilinanus emiliae (2n = 14, FN = 24, Marmosa murina , Metachirus nudicaudatus and Micoureus demerarae (2n = 14, FN = 20, Monodelphis americana (2n = 18, FN = 32 and M. domestica (2n = 18, FN = 20, and Didelphis marsupialis, Philander frenata, P. opossum and P. sp (2n = 22, FN = 20]. Although the karyotypes were relatively

A case of premature ovarian failure (POF) in a 31-year-old woman with a 47,XXX karyotype.

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Skałba, Piotr; Cygal, Anna; Gierzyńska, Zuzanna

2010-01-01

A case of POF in a 31-year-old woman with karyotype 47,XXX. The aim of the study was to discuss a case of POF in a 31-year-old patient with polysomy 47,XXX. The described karyotype is not usually associated with this characteristic physical phenotype. In some rare cases, menstrual disorders, sterility, secondary amenorrhoea, premature menopause, and low intelligence are found. Our observations revealed the necessity for cytogenetic examination in all women at reproductive age with symptoms of premature ovarian failure. According to the data found in literature, patients with POF and karyotype disorders belong to the risk group of premature death, mostly for cardiological reasons. Raising patient awareness about the risk may have a positive effect on quality of life and regularity of check-ups.

Second-trimester IL-15 and IL-18 levels in the amniotic fluid of fetuses with normal karyotypes and with chromosome abnormalities.

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Klimkiewicz-Blok, Dominika; Florjański, Jerzy; Zalewski, Jerzy; Blok, Radosław

2012-01-01

Little is known about the behavior of interleukin 15 (IL-15) and 18 (IL-18) in the amniotic fluid in the second trimester of gestations complicated by chromosomal defects in the fetus. Likewise, it has not yet been established whether a fetus with chromosome abnormalities creates its immunity mechanisms in the same way as a fetus with a normal karyotype. The aim of this work was to assess the concentration of IL-15 and IL-18 in the amniotic fluid in the second trimester of gestation in fetuses with normal karyotypes and with chromosome abnormalities. The material consisted of 51 samples of amniotic fluid obtained from genetic amniocenteses carried out between the 15th and the 19th weeks of gestation. On the basis of cytogenetic screening, two groups were singled out: Group I--45 fetuses with normal karyotypes, and Group II--6 fetuses with abnormal karyotypes. The concentrations of IL-15 and IL-18 in the amniotic fluid were assessed with ready-made assays and analyzed, and the results from both groups were compared. The differences between the IL-15 levels in the amniotic fluid from Groups I and II proved to be statistically insignificant (p = 0.054). However, the average IL-18 levels in the amniotic fluid of the fetuses with normal karyotypes were significantly higher than in the amniotic fluid of the fetuses with chromosome abnormalities (p = 0.032). Some defense mechanisms in the second trimester of gestation in fetuses with chromosome abnormalities may develop in a different way than in fetuses with normal karyotypes.

Dynamic karyotype evolution and unique sex determination systems in Leptidea wood white butterflies.

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Šíchová, Jindra; Voleníková, Anna; Dincă, Vlad; Nguyen, Petr; Vila, Roger; Sahara, Ken; Marec, František

2015-05-19

Chromosomal rearrangements have the potential to limit the rate and pattern of gene flow within and between species and thus play a direct role in promoting and maintaining speciation. Wood white butterflies of the genus Leptidea are excellent models to study the role of chromosome rearrangements in speciation because they show karyotype variability not only among but also within species. In this work, we investigated genome architecture of three cryptic Leptidea species (L. juvernica, L. sinapis and L. reali) by standard and molecular cytogenetic techniques in order to reveal causes of the karyotype variability. Chromosome numbers ranged from 2n = 85 to 91 in L. juvernica and 2n = 69 to 73 in L. sinapis (both from Czech populations) to 2n = 51 to 55 in L. reali (Spanish population). We observed significant differences in chromosome numbers and localization of cytogenetic markers (rDNA and H3 histone genes) within the offspring of individual females. Using FISH with the (TTAGG) n telomeric probe we also documented the presence of multiple chromosome fusions and/or fissions and other complex rearrangements. Thus, the intraspecific karyotype variability is likely due to irregular chromosome segregation of multivalent meiotic configurations. The analysis of female meiotic chromosomes by GISH and CGH revealed multiple sex chromosomes: W1W2W3Z1Z2Z3Z4 in L. juvernica, W1W2W3Z1Z2Z3 in L. sinapis and W1W2W3W4Z1Z2Z3Z4 in L. reali. Our results suggest a dynamic karyotype evolution and point to the role of chromosomal rearrangements in the speciation of Leptidea butterflies. Moreover, our study revealed a curious sex determination system with 3-4 W and 3-4 Z chromosomes, which is unique in the Lepidoptera and which could also have played a role in the speciation process of the three Leptidea species.

Major prognostic value of complex karyotype in addition to TP53 and IGHV mutational status in first-line chronic lymphocytic leukemia.

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Le Bris, Yannick; Struski, Stéphanie; Guièze, Romain; Rouvellat, Caroline; Prade, Naïs; Troussard, Xavier; Tournilhac, Olivier; Béné, Marie C; Delabesse, Eric; Ysebaert, Loïc

2017-12-01

Chronic lymphocytic leukemia (CLL) is a lymphoproliferative disorder of remarkable heterogeneity as demonstrated by cytogenetics and molecular analyses. Complex karyotype (CK), TP53 deletions and/or mutations (TP53 disruption), IGVH mutational status, and, more recently, recurrent somatic mutations have been identified as prognostic markers in CLL. On a cohort of 110 patients with CLL treated with first-line fludarabin, cyclophosphamide, and rituximab treatment compared with 33 untreated (watch and wait) patients with CLL, we report more frequent complex karyotypes (34 vs 15%; P = .05), unmutated IGHV (70 vs 21%; P < .0001), ATM deletion (25 vs 6%, P = .02), and NOTCH mutation (3 vs 17%, P = .04). Among treated patients, 39 relapsed during the follow-up period. These patients were characterized before treatment by a higher incidence of trisomy 12 (38 vs 11%, P < .001) and TP53 disruption (31 vs 4%, P = .0002). A significantly shorter 5-year overall survival was found for treated patients with CK (72.4 vs 85.8%; P = .007), unmutated IGHV (70 vs 100%; P = .04), or TP53 disruption (55.7 vs 82.7%; P < .0001). Three risk groups were defined based on the status of TP53 disruption or unmutated IGVH, which differed significantly in terms of 5-year overall survival. Moreover, the presence of CK impacted pejoratively 5-year overall survival and progression-free survival in all these 3 groups. Conventional karyotyping therefore appears to be of value, CK being an additional factor, undetectable in classical FISH, in patients with CLL at the stage when therapy becomes required. Copyright © 2016 John Wiley & Sons, Ltd.

Chromosomal study of lettuce and its allied species (Lactuca spp., Asteraceae) by means of karyotype analysis and fluorescence in situ hybridization.

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Matoba, Hideyuki; Mizutani, Takayuki; Nagano, Katsuya; Hoshi, Yoshikazu; Uchiyama, Hiroshi

2007-12-01

In this study, in addition to the karyotype analysis, the chromosomal distributions of 5 S and 18 S rDNAs, and the Arabidopsis-type (T3AG3) telomeric sequences were detected by means of fluorescence in situ hybridization (FISH) to promote the information of chromosomal organization and evolution in the cultivated lettuce and its wild relatives, L. sativa, L. serriola, L. saligna and L. virosa. The karyotype analysis revealed the dissimilarity between L. virosa and the remaining species. In all four Lactuca species studied, one 5 S rDNA and two 18 S rDNA loci were detected. The simultaneous FISH of 5 S and 18 S rDNAs revealed that both rDNA loci of L. sativa, L. serriola and L. saligna were identical, however, that of L. virosa was different from the other species. These analyses indicate the closer relationships between L. sativa/L. serriola and L. saligna rather than L. virosa. Arabidopsis-type telomeric sequences were detected at both ends of their chromatids of all chromosomes not in the other regions. This observation suggests the lack of telomere-mediated chromosomal rearrangements among the Lactuca chromosomes.

Maintenance of syntenic groups between Cathartidae and Gallus gallus indicates symplesiomorphic karyotypes in new world vultures

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Marcella M. Tagliarini

2011-01-01

Full Text Available Similarities between New World and Old World vultures have been interpreted to reflect a close relationship and to suggest the inclusion of both in Accipitridae (Falconiformes. However, deeper analyses indicated that the placement of the New World vultures (cathartids in this Order is uncertain. Chromosome analysis has shown that cathartids retained a karyotype similar to the putative avian ancestor. In order to verify the occurrence of intrachromosomal rearrangements in cathartids, we hybridized whole chromosome probes of two species (Gallus gallus and Leucopternis albicollis onto metaphases of Cathartes aura. The results showed that not only were the syntenic groups conserved between Gallus and C. aura, but probably also the general gene order, suggesting that New World vultures share chromosomal symplesiomorphies with most bird lineages.

COMPARISON OF IMAGE ENHANCEMENT METHODS FOR CHROMOSOME KARYOTYPE IMAGE ENHANCEMENT

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Dewa Made Sri Arsa

2017-02-01

Full Text Available The chromosome is a set of DNA structure that carry information about our life. The information can be obtained through Karyotyping. The process requires a clear image so the chromosome can be evaluate well. Preprocessing have to be done on chromosome images that is image enhancement. The process starts with image background removing. The image will be cleaned background color. The next step is image enhancement. This paper compares several methods for image enhancement. We evaluate some method in image enhancement like Histogram Equalization (HE, Contrast-limiting Adaptive Histogram Equalization (CLAHE, Histogram Equalization with 3D Block Matching (HE+BM3D, and basic image enhancement, unsharp masking. We examine and discuss the best method for enhancing chromosome image. Therefore, to evaluate the methods, the original image was manipulated by the addition of some noise and blur. Peak Signal-to-noise Ratio (PSNR and Structural Similarity Index (SSIM are used to examine method performance. The output of enhancement method will be compared with result of Professional software for karyotyping analysis named Ikaros MetasystemT M . Based on experimental results, HE+BM3D method gets a stable result on both scenario noised and blur image.

Induction of chromosome damage by ultraviolet light and caffeine: correlation of cytogenetic evaluation and flow karyotype

International Nuclear Information System (INIS)

Cremer, C.; Cremer, T.; Gray, J.W.

1982-01-01

Asynchronously growing cells of a M3-1 Chinese hamster line were ultraviolet (UV) irradiated (lambda . 254 nm) with UV fluences up to 7.5 J/m(2). After irradiation cells were incubated with or without 2 mM caffeine for 20 hr, then mitotic cells were selected by mechanical shaking. Their chromosomes were isolated, stained with Hoechst 33258 and chromomycin A3, and measured flow cytometrically. While the fluorescence distributions of chromosomes (flow karyo-types) from cells treated with UV alone or with caffeine alone were very similar to those of untreated controls, the flow karyo-types of UV + caffeine-treated cells showed a debris continuum that increased with increasing UV fluence suggesting an increased number of chromosome fragments. Visual evaluation of metaphase plates revealed that the percentage of cells with chromosome damage also increased steadily with increasing UV fluence. A high degree of correlation was observed between the relative magnitude of the debris level from flow karyotypes and the percentage of cells with chromosome damage and with generalized chromosomes shattering, respectively, as determined from metaphase spreads

Morphological and karyotypic contributions for a better taxonomic definition of the frog ischnocnema ramagii (Boulenger, 1888) (anura, brachycephalidae)

OpenAIRE

Napoli, Marcelo Felgueiras; Ananias, Fernando; Fonseca, Patricia M.; Silva, Ana Paula Z.

2009-01-01

Acesso restrito. Texto completo disponível no PORTAL de PERIÓDICOS da CAPES. p. 164-172. In this study we describe the morphological variation of Ischnocnema ramagii from a population sample within the Municipality of Salvador, Bahia State, Brazil, and characterize two extremely distinct morphotypes within this taxon (striped vs. non-striped dorsum); we describe its karyotype, and compare the karyotypic structure of the distinct morphotypes recognized herein. Specimens with str...

Repetitive DNA: A Versatile Tool for Karyotyping in Festuca pratensis Huds

Czech Academy of Sciences Publication Activity Database

Křivánková, Anna; Kopecký, David; Stočes, Štěpán; Doležel, Jaroslav; Hřibová, Eva

2017-01-01

Roč. 151, č. 2 (2017), s. 96-105 ISSN 1424-8581 R&D Projects: GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : Fluorescence in situ hybridization * Karyotyping * Meadow fescue * Repetitive DNA * Tandem organized repeats Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Plant sciences, botany Impact factor: 1.354, year: 2016

Comparison of the Giemsa C-banded and N-banded karyotypes of two Elymus species, E. dentatus and E. glaucescens (Poaceae; Triticeae)

DEFF Research Database (Denmark)

Linde-Laursen, I.; Seberg, O.; Salomon, B.

1994-01-01

The karyotypes of Elymus dentatus from Kashmir and E. glaucescens from Tierra del Fuego, both carrying genomes S and H, were investigated by C- and N-banding. Both taxa had 2n = 4x = 28. The karyotype of E. dentatus was symmetrical with large chromosomes. It had 18 metacentric, four submetacentric...

Gender role behavior in children with XY karyotype and disorders of sex development.

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Jürgensen, Martina; Hiort, Olaf; Holterhus, Paul-Martin; Thyen, Ute

2007-03-01

Children exhibit gender-typical preferences in play, toys, activities and interests, and playmates. Several studies suggest that high concentrations of pre- and postnatal androgens contribute to male-typical behavior development, whereas female-typical behavior develops in the absence of high androgens levels. This study aims to explore the consequences of hypoandrogenization on gender-typical behavior in children who have an XY karyotype and disorder of sex development (DSD). Participants included 33 children (ages 2-12 years) with an XY karyotype and DSD; 21 reared as girls and 12 reared as boys. Children's preferred activities and interests and playmate preferences were assessed with parent report questionnaires, a structured free-play task, and choice of a toy to keep as a gift. Participant's responses were compared to those of children recruited in a pre-school and elementary school survey (N=166). In this study, the degree of hypoandrogenization as indicated by genital stage and diagnosis showed a significant relationship to nearly all of the gender-related behaviors assessed, supporting the hypothesis that masculinization of gender role behavior is a function of prenatal androgen exposure. Despite the fact that children with partial androgen effects reared as girls showed increased "boyish" behaviors, they did not show increased signs of gender identity confusion or instability on a group level. We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions.

Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

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Wallis, C E; Beighton, P H

1989-01-01

A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene. Images PMID:2732995

Karyotypic evolution and phylogenetic relationships in the order Chiroptera as revealed by G-banding comparison and chromosome painting.

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Ao, Lei; Mao, Xiuguang; Nie, Wenhui; Gu, Xiaoming; Feng, Qing; Wang, Jinhuan; Su, Weiting; Wang, Yingxiang; Volleth, Marianne; Yang, Fengtang

2007-01-01

Bats are a unique but enigmatic group of mammals and have a world-wide distribution. The phylogenetic relationships of extant bats are far from being resolved. Here, we investigated the karyotypic relationships of representative species from four families of the order Chiroptera by comparative chromosome painting and banding. A complete set of painting probes derived from flow-sorted chromosomes of Myotis myotis (family Vespertilionidae) were hybridized onto metaphases of Cynopterus sphinx (2n = 34, family Pteropodidae), Rhinolophus sinicus (2n=36, family Rhinolophidae) and Aselliscus stoliczkanus (2n=30, family Hipposideridae) and delimited 27, 30 and 25 conserved chromosomal segments in the three genomes, respectively. The results substantiate that Robertsonian translocation is the main mode of chromosome evolution in the order Chiroptera, with extensive conservation of whole chromosomal arms. The use of M. myotis (2n=44) probes has enabled the integration of C. sphinx, R. sinicus and A. stoliczkanus chromosomes into the previously established comparative maps between human and Eonycteris spelaea (2n=36), Rhinolophus mehelyi (2n=58), Hipposideros larvatus (2n=32), and M. myotis. Our results provide the first cytogenetic signature rearrangement that supports the grouping of Pteropodidae and Rhinolophoidea in a common clade (i.e. Pteropodiformes or Yinpterochiroptera) and thus improve our understanding on the karyotypic relationships and genome phylogeny of these bat species.

Electroclinical findings in four patients with karyotype 47,XYY.

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Torniero, Claudia; Bernardina, Bernardo Dalla; Fontana, Elena; Darra, Francesca; Danesino, Cesare; Elia, Maurizio

2011-05-01

47,XYY karyotype is a Y chromosome aneuploidy characterized by an extra copy of the Y chromosome in each of the male cells, with an incidence of 1/1000 males. Most studies about 47,XYY have focused on growth, cognitive development, academic performance, behavioural problems, speech and language skills and neuromuscular status. Up-to-date reports on seizures and EEG characteristics concerning 47,XYY men have been sporadic and poorly detailed. The aim of this study is to describe the particular electroclinical patterns in a group of four subjects with 47,XYY karyotype. We performed neurological examinations, psychometric tests, brain MRIs, prolonged EEG recordings during awake and sleep on four unselected males 47,XYY. All four patients presented various degrees of neuropsychological impairment. An incidence of familial antecedents for epilepsy was confirmed by three families. When present, seizures were very similar to that of benign epilepsy with central-temporal spikes, (BECTS), for age of onset, clinical picture, evolution and good response to antiepileptic drugs. EEG recordings in all four subjects showed normal background activity and sleep organization, particular focal spikes and sharp-waves localized mostly over the vertex and/or central-temporal regions, which increased during sleep. In our opinion, these 47,XYY patients present a particular electroclinical pattern. Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Fluorescence In Situ Hybridization (FISH-Based Karyotyping Reveals Rapid Evolution of Centromeric and Subtelomeric Repeats in Common Bean (Phaseolus vulgaris and Relatives

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Aiko Iwata-Otsubo

2016-04-01

Full Text Available Fluorescence in situ hybridization (FISH-based karyotyping is a powerful cytogenetics tool to study chromosome organization, behavior, and chromosome evolution. Here, we developed a FISH-based karyotyping system using a probe mixture comprised of centromeric and subtelomeric satellite repeats, 5S rDNA, and chromosome-specific BAC clones in common bean, which enables one to unambiguously distinguish all 11 chromosome pairs. Furthermore, we applied the karyotyping system to several wild relatives and landraces of common bean from two distinct gene pools, as well as other related Phaseolus species, to investigate repeat evolution in the genus Phaseolus. Comparison of karyotype maps within common bean indicates that chromosomal distribution of the centromeric and subtelomeric satellite repeats is stable, whereas the copy number of the repeats was variable, indicating rapid amplification/reduction of the repeats in specific genomic regions. In Phaseolus species that diverged approximately 2–4 million yr ago, copy numbers of centromeric repeats were largely reduced or diverged, and chromosomal distributions have changed, suggesting rapid evolution of centromeric repeats. We also detected variation in the distribution pattern of subtelomeric repeats in Phaseolus species. The FISH-based karyotyping system revealed that satellite repeats are actively and rapidly evolving, forming genomic features unique to individual common bean accessions and Phaseolus species.

Karyotype evolution in Rhinolophus bats (Rhinolophidae, Chiroptera) illuminated by cross-species chromosome painting and G-banding comparison.

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Mao, Xiuguang; Nie, Wenhui; Wang, Jinhuan; Su, Weiting; Ao, Lei; Feng, Qing; Wang, Yingxiang; Volleth, Marianne; Yang, Fengtang

2007-01-01

Rhinolophus (Rhinolophidae) is the second most speciose genus in Chiroptera and has extensively diversified diploid chromosome numbers (from 2n = 28 to 62). In spite of many attempts to explore the karyotypic evolution of this genus, most studies have been based on conventional Giemsa staining rather than G-banding. Here we have made a whole set of chromosome-specific painting probes from flow-sorted chromosomes of Aselliscus stoliczkanus (Hipposideridae). These probes have been utilized to establish the first genome-wide homology maps among six Rhinolophus species with four different diploid chromosome numbers (2n = 36, 44, 58, and 62) and three species from other families: Rousettus leschenaulti (2n = 36, Pteropodidae), Hipposideros larvatus (2n = 32, Hipposideridae), and Myotis altarium (2n = 44, Vespertilionidae) by fluorescence in situ hybridization. To facilitate integration with published maps, human paints were also hybridized to A. stoliczkanus chromosomes. Our painting results substantiate the wide occurrence of whole-chromosome arm conservation in Rhinolophus bats and suggest that Robertsonian translocations of different combinations account for their karyotype differences. Parsimony analysis using chromosomal characters has provided some new insights into the Rhinolophus ancestral karyotype and phylogenetic relationships among these Rhinolophus species so far studied. In addition to Robertsonian translocations, our results suggest that whole-arm (reciprocal) translocations involving multiple non-homologous chromosomes as well could have been involved in the karyotypic evolution within Rhinolophus, in particular those bats with low and medium diploid numbers.

Karyotype characterization and ZZ/ZW sex chromosome heteromorphism in two species of the catfish genus Ancistrus Kner, 1854 (Siluriformes: Loricariidae from the Amazon basin

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Renildo R. de Oliveira

Full Text Available We present karyotypic characteristics and report on the occurrence of ZZ/ZW sex chromosomes in Ancistrus ranunculus (rio Xingu and Ancistrus sp. "Piagaçu" (rio Purus, of the Brazilian Amazon. Ancistrus ranunculus has a modal number of 2n=48 chromosomes, a fundamental number (FN of 82 for both sexes, and the karyotypic formula was 20m+8sm+6st+14a for males and 19m+9sm+6st+14a for females. Ancistrus sp. "Piagaçu" presented 2n=52 chromosomes, FN= 78 for males and FN= 79 for females. The karyotypic formula was 16m+8sm+2st+26a for males and 16m+9sm+2st+25a for females. The high number of acrocentric chromosomes in karyotype of Ancistrus sp. "Piagaçu" differs from the majority of Ancistrini genera studied so far, and may have resulted from pericentric inversions and translocations. The lower number of chromosomes in A. ranunculus indicates that centric fusions also occurred in the evolution of Ancistrus karyotypes. We conclude that karyotypic characteristics and the presence of sex chromosomes can constitute important cytotaxonomic markers to identify cryptic species of Ancistrus. However, sex chromosomes apparently arose independently within the genus and thus do not constitute a reliable character to analyze phylogenetic relations among Ancistrus species.

Chromosome radiosensitivity and kinetics of proliferation of peripheral lymphocytes in individuals with aneuploid karyotype

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Konecna, H; Kalina, I; Ondrussekova, A

1988-08-01

Experimentally investigated was the radiosensitivity of chromosomes and the kinetics of the proliferation of peripheral lymphocytes in patients with aneuploid (DS and TS) and normal karyotype irradiated in vitro in the G/sub o/ stage of the cell cycle. Trisomic lymphocytes were found to proliferate more rapidly in the in vitro culture and to be more sensitive than diploid cell populations. In monosomic lymphocytes in Turner syndrome patients, the proliferation and incidence of chromosomal abberations was similar to the disomic lines in Down's syndrome patients and in Turner syndrome patients, and to that found in persons with a normal karyotype. The results of the experiment show that there is a relationship between the proliferation rate of peripheral lymphocytes cultures in vitro and the radiosensivity of chromosomes. (author). 1 tab., 3 figs., 11 refs.

Chromosome radiosensitivity and kinetics of proliferation of peripheral lymphocytes in individuals with aneuploid karyotype

International Nuclear Information System (INIS)

Konecna, H.; Kalina, I.; Ondrussekova, A.

1988-01-01

Experimentally investigated was the radiosensitivity of chromosomes and the kinetics of the proliferation of peripheral lymphocytes in patients with aneuploid (DS and TS) and normal karyotype irradiated in vitro in the G o stage of the cell cycle. Trisomic lymphocytes were found to proliferate more rapidly in the in vitro culture and to be more sensitive than diploid cell populations. In monosomic lymphocytes in Turner syndrome patients, the proliferation and incidence of chromosomal abberations was similar to the disomic lines in Down's syndrome patients and in Turner syndrome patients, and to that found in persons with a normal karyotype. The results of the experiment show that there is a relationship between the proliferation rate of peripheral lymphocytes cultures in vitro and the radiosensivity of chromosomes. (author). 1 tab., 3 figs., 11 refs

Karyotype characterization and comparison of three hexaploid species of Bromus Linnaeus, 1753 (Poaceae

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Leonardo Luís Artico

2017-04-01

Full Text Available Chromosome morphometry and nuclear DNA content are useful data for cytotaxonomy and to understand the evolutionary history of different taxa. For the genus Bromus Linnaeus, 1753, distinct ploidy levels have been reported, occurring from diploid to duodecaploid species. The geographic distribution of Bromus species has been correlated with chromosome number and ploidy level. In this study, the aims were to determine the nuclear genome size and characterize the karyotype of the South American Bromus species: Bromus auleticus Trinius ex Nees, 1829, Bromus brachyanthera Döll, 1878 and Bromus catharticus Vahl, 1791. The mean nuclear 2C value ranged from 2C = 12.64 pg for B. catharticus to 2C = 17.92 pg for B. auleticus, meaning a maximum variation of 2C = 5.28 pg, equivalent to 41.70%. Despite this significant difference in 2C value, the three species exhibit the same chromosome number, 2n = 6x = 42, which confirms their hexaploid origin. Corroborating the genome size, the chromosome morphometry (total, short- and long-arm length and, consequently, the class differed among the karyotypes of the species. Based on the first karyograms for these Bromus species, some morphologically similar and several distinct chromosome pairs were found. Therefore, the karyotype characterization confirmed the hexaploid origin of the studied Bromus species, which differ in relation to the karyogram and the nuclear 2C value. Considering this, cytogenetics and flow cytometry can be used to discriminate Bromus species, contributing to taxonomy and systematic studies and providing information on the evolutionary history of this taxa.

Karyotype characterization and comparison of three hexaploid species of Bromus Linnaeus, 1753 (Poaceae).

Science.gov (United States)

Artico, Leonardo Luís; Mazzocato, Ana Cristina; Ferreira, Juliano Lino; Carvalho, Carlos Roberto; Clarindo, Wellington Ronildo

2017-01-01

Chromosome morphometry and nuclear DNA content are useful data for cytotaxonomy and to understand the evolutionary history of different taxa. For the genus Bromus Linnaeus, 1753, distinct ploidy levels have been reported, occurring from diploid to duodecaploid species. The geographic distribution of Bromus species has been correlated with chromosome number and ploidy level. In this study, the aims were to determine the nuclear genome size and characterize the karyotype of the South American Bromus species: Bromus auleticus Trinius ex Nees, 1829, Bromus brachyanthera Döll, 1878 and Bromus catharticus Vahl, 1791. The mean nuclear 2C value ranged from 2C = 12.64 pg for B. catharticus to 2C = 17.92 pg for B. auleticus , meaning a maximum variation of 2C = 5.28 pg, equivalent to 41.70%. Despite this significant difference in 2C value, the three species exhibit the same chromosome number, 2n = 6x = 42, which confirms their hexaploid origin. Corroborating the genome size, the chromosome morphometry (total, short- and long-arm length) and, consequently, the class differed among the karyotypes of the species. Based on the first karyograms for these Bromus species, some morphologically similar and several distinct chromosome pairs were found. Therefore, the karyotype characterization confirmed the hexaploid origin of the studied Bromus species, which differ in relation to the karyogram and the nuclear 2C value. Considering this, cytogenetics and flow cytometry can be used to discriminate Bromus species, contributing to taxonomy and systematic studies and providing information on the evolutionary history of this taxa.

Karyotypes versus Genomes: The Nymphalid Butterflies Melitaea cinxia, Danaus plexippus, and D. chrysippus.

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Traut, Walther; Ahola, Virpi; Smith, David A S; Gordon, Ian J; Ffrench-Constant, Richard H

2017-01-01

The number of sequenced lepidopteran genomes is increasing rapidly. However, the corresponding assemblies rarely represent whole chromosomes and generally also lack the highly repetitive W sex chromosome. Knowledge of the karyotypes can facilitate genome assembly and further our understanding of sex chromosome evolution in Lepidoptera. Here, we describe the karyotypes of the Glanville fritillary Melitaea cinxia (n = 31), the monarch Danaus plexippus (n = 30), and the African queen D. chrysippus (2n = 60 or 59, depending on the source population). We show by FISH that the telomeres are of the (TTAGG)n type, as found in most insects. M. cinxia and D. plexippus have "conventional" W chromosomes which are heterochromatic in meiotic and somatic cells. In D. chrysippus, the W is inconspicuous. Neither telomeres nor W chromosomes are represented in the published genomes of M. cinxia and D. plexippus. Representation analysis in sequenced female and male D. chrysippus genomes detected an evolutionarily old autosome-Z chromosome fusion in Danaus. Conserved synteny of whole chromosomes, so called "macro synteny", in Lepidoptera permitted us to identify the chromosomes involved in this fusion. An additional and more recent sex chromosome fusion was found in D. chrysippus by karyotype analysis and classical genetics. In a hybrid population between 2 subspecies, D. c. chrysippus and D. c. dorippus, the W chromosome was fused to an autosome that carries a wing colour locus. Thus, cytogenetics and the present state of genome data complement one another to reveal the evolutionary history of the species. © 2017 S. Karger AG, Basel.

Analysis of the karyotype of Callisia elegans Alexand. (Commelinaceae including differential staining of chromosomes

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Elżbieta Weryszko-Chmielewska

2014-01-01

Full Text Available The number and morphology of Callisia elegans Alexand. chromosomes were studied employing staining with acetic carmine and differential Giemsa staining. It was found that its karyotype was 2n = 12 chromosomes, whose lengths fell in the range of 16.8 to 8.8 µm. The chomosomes, arranged in order of length, were classified respectively to types: sm, t, t, t, t, st. The distribution of C-banding is given for this karyotype. The presence of microsatellites on the long and short arms was found in the chromosomes of the second pair. Frequently there were 4 nucleoli of unequal size in interphase nuclei. In many cells, lower numbers of nucleoli (3-1 were seen which was -probably due to their fusion. The maximum number of nucleoli corresponded to the number of nucleolar organizers accompanying the satellites.

Optimasi Penambahan Colcemid pada Karyotyping Kultur Mecenchymal Stem Cells (MSC Mencit

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Ratih Rinendyaputri

2016-02-01

Full Text Available AbstractControl of the genetic stability of stem cells prior to the conduct of therapy is essential to prevent effects such as stem cell transformation. Karyotyping is a conventional technique to conduct an analysis of the number and structure of chromosomes. The analysis can only be performed on metaphase stage that needs to be optimized to get the cell at that stage because the length of the cell cycle are different in the each cell types. This study aims to obtain an optimal time to get MSC at metaphase stage. The study was conducted at the stem cell laboratory of Center for Biomedical and Basic Technology of Health. The event begins with isolation using flushing technique at the femur and tibia of mice. Furthermore, the culture in vitro and induction colcemid 0,25μg/ml for 8,16 and 24 hours to get the MSC at metaphase stage. KCl solution with a concentration of 0.075 M and 0,045 M used as a solvent hipotonis. Results showed that 16 hours of induction colcemid 0,25μg/ml in 0.075 M KCl solution usage percentage of MSC who are at metaphase stage and do the highest analysis (p<0.05. In this study 16 hours induction colcemid 0,25μg/ml is the optimal time to obtain metaphase stage of the MSC from bone marrow of mice.Keywords: mecenchymal stem cell, karyotyping, colcemidAbstrakKontrol terhadap stabilitas genetik pada sel punca sebelum pelaksanan terapi merupakan hal yang penting untuk mencegah efek seperti transformasi sel punca yang dapat terjadi. Secara konvensional dapat dilakukan karyotyping untuk melakukan analisis terhadap jumlah dan struktur kromosom. Analisis hanya dapat dilakukan pada tahap metafase sehingga perlu dilakukan optimasi untuk mendapatkan sel pada tahap tersebut mengingat panjang siklus sel setiap jenis sel berbeda. Penelitian ini bertujuan untuk memperoleh waktu yang optimal untuk mendapatkan MSC pada tahap metafase. Penelitian dilakukan di Laboratorium stem cell Pusat Biomedis dan Teknologi Dasar Kesehatan Badan Litbangkes

47,XYY karyotype and normal SRY in a patient with a female phenotype.

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Benasayag, S; Rittler, M; Nieto, F; Torres de Aguirre, N; Reyes, M; Copelli, S

2001-06-01

A rare case of a female patient with a 47,XYY karyotype is described. She had normal female external genitalia, bilateral testes, rudimentary Fallopian tubes and no uterus. Molecular analysis revealed a normal SRY encoding sequence. The possible events in the etiology of this sex reversal entity are discussed.

Karyotype evolution and phylogenetic relationships of hamsters (Cricetidae, Muroidea, Rodentia) inferred from chromosomal painting and banding comparison.

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Romanenko, Svetlana A; Volobouev, Vitaly T; Perelman, Polina L; Lebedev, Vladimir S; Serdukova, Natalya A; Trifonov, Vladimir A; Biltueva, Larisa S; Nie, Wenhui; O'Brien, Patricia C M; Bulatova, Nina Sh; Ferguson-Smith, Malcolm A; Yang, Fengtang; Graphodatsky, Alexander S

2007-01-01

The evolutionary success of rodents of the superfamily Muroidea makes this taxon the most interesting for evolution studies, including study at the chromosomal level. Chromosome-specific painting probes from the Chinese hamster and the Syrian (golden) hamster were used to delimit homologous chromosomal segments among 15 hamster species from eight genera: Allocricetulus, Calomyscus, Cricetulus, Cricetus, Mesocricetus, Peromyscus, Phodopus and Tscherskia (Cricetidae, Muroidea, Rodentia). Based on results of chromosome painting and G-banding, comparative maps between 20 rodent species have been established. The integrated maps demonstrate a high level of karyotype conservation among species in the Cricetus group (Cricetus, Cricetulus, Allocricetulus) with Tscherskia as its sister group. Species within the genera Mesocricetus and Phodopus also show a high degree of chromosomal conservation. Our results substantiate many of the conclusions suggested by other data and strengthen the topology of the Muroidea phylogenetic tree through the inclusion of genome-wide chromosome rearrangements. The derivation of the muroids karyotypes from the putative ancestral state involved centric fusions, fissions, addition of heterochromatic arms and a great number of inversions. Our results provide further insights into the karyotype relationships of all species investigated.

GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype.

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Skordis, Nicos; Ferrari, Eleana; Antoniadou, Aria; Phylactou, Leonidas A; Fanis, Pavlos; Neocleous, Vassos

2017-07-01

This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity (breast and pubic hair development, menarche) and was finally diagnosed with GnRH dependent precocious puberty with no evidence of underlying central nervous system pathology. Molecular testing did not identify any genetic defect in any of the genes tested (KISS1, KISS1R, DLK1 and the intronless MKRN3). Though previous studies have shown a link between karyotype 47,XXX and precocious puberty, this is the youngest patient reported so far. Treatment with GnRH analog was commenced and proved to be effective, indicating a successful suppression of the hypothalamic-pituitary-ovarian axis.

A first glimpse of wild lupin karyotype variation as revealed by comparative cytogenetic mapping

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Karolina Susek

2016-07-01

Full Text Available Insight into plant genomes at the cytomolecular level provides useful information about their karyotype structure, enabling inferences about taxonomic relationships and evolutionary origins. The Old World lupins demonstrate a high level of genomic diversification involving variation in chromosome numbers (2n=32-52, basic chromosome numbers (x=5-7, 9, 13 and in nuclear genome size (2C DNA=0.97-2.68 pg. Lupins comprise both crop and wild species and provide an intriguing system to study karyotype evolution.In order to investigate lupin chromosome structure, heterologous FISH was used. Sixteen BACs that had been generated as chromosome markers for the reference species, Lupinus angustifolius, were used to identify chromosomes in the wild species and explore karyotype variation. While all ‘single-locus’ in L. angustifolius, in the wild lupins these clones proved to be ‘single-locus’, ‘single-locus’ with additional signals, ‘repetitive’ or had no detectable BAC-FISH signal. The diverse distribution of the clones in the targeted genomes suggests a complex evolution history, which possibly involved multiple chromosomal changes such as fusions/fissions and repetitive sequence amplification. Twelve BACs were sequenced and we found numerous transposable elements including DNA transposons as well as LTR and non-LTR retrotransposons with varying quantity and composition among the different lupin species. However, at this preliminary stage, no correlation was observed between the pattern of BAC-FISH signals and the repeat content in particular BACs. Here, we describe the first BAC-based chromosome-specific markers for the wild species: L. cosentinii, L. cryptanthus, L. pilosus, L. micranthus and one New World lupin, L. multiflorus. These BACs could constitute the basis for an assignment of the chromosomal and genetic maps of other lupins, e.g. L. albus and L. luteus. Moreover, we identified karyotype variation that helps illustrate the

Comparative karyotype analysis and chromosome evolution in the genus Aplastodiscus (Cophomantini, Hylinae, Hylidae

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Gruber Simone

2012-04-01

Full Text Available Abstract Background The frogs of the Tribe Cophomantini present, in general, 2n = 24 karyotype, but data on Aplastodiscus showed variation in diploid number from 2n = 24 to 2n = 18. Five species were karyotyped, one of them for the first time, using conventional and molecular cytogenetic techniques, with the aim to perform a comprehensive comparative analysis towards the understanding of chromosome evolution in light of the phylogeny. Results Aplastodiscus perviridis showed 2n = 24, A. arildae and A. eugenioi, 2n = 22, A. callipygius, 2n = 20, and A. leucopygius, 2n = 18. In the metaphase I cells of two species only bivalents occurred, whereas in A. arildae, A. callipygius, and A. leucopygius one tetravalent was also observed besides the bivalents. BrdU incorporation produced replication bands especially in the largest chromosomes, and a relatively good banding correspondence was noticed among some of them. Silver impregnation and FISH with an rDNA probe identified a single NOR pair: the 11 in A. perviridis and A. arildae; the 6 in A. eugenioi; and the 9 in A. callipygius and A. leucopygius. C-banding showed a predominantly centromeric distribution of the heterochromatin, and in one of the species distinct molecular composition was revealed by CMA3. The telomeric probe hybridised all chromosome ends and additionally disclosed the presence of telomere-like sequences in centromeric regions of three species. Conclusions Based on the hypothesis of 2n = 24 ancestral karyotype for Aplastodiscus, and considering the karyotype differences and similarities, two evolutionary pathways through fusion events were suggested. One of them corresponded to the reduction of 2n = 24 to 22, and the other, the reduction of 2n = 24 to 20, and subsequently to 18. Regarding the NOR, two conditions were recognised: plesiomorphy, represented by the homeologous small-sized NOR-bearing pairs, and derivation, represented by the NOR in

Cytokine expression patterns and mesenchymal stem cell karyotypes from the bone marrow microenvironment of patients with myelodysplastic syndromes

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Xiong, H.; Yang, X.Y.; Han, J.; Wang, Q.; Zou, Z.L. [Department of Hematology, Shanghai Clinical Research Center, Chinese Academy of Sciences, Shanghai Xuhui District Central Hospital, Shanghai (China)

2015-01-20

The purpose of this study was to explore cytokine expression patterns and cytogenetic abnormalities of mesenchymal stem cells (MSCs) from the bone marrow microenvironment of Chinese patients with myelodysplastic syndromes (MDS). Bone marrow samples were obtained from 30 cases of MDS (MDS group) and 30 healthy donors (control group). The expression pattern of cytokines was detected by customized protein array. The karyotypes of MSCs were analyzed using fluorescence in situ hybridization. Compared with the control group, leukemia inhibitory factor, stem cell factor (SCF), stromal cell-derived factor (SDF-1), bone morphogenetic protein 4, hematopoietic stem cell (HSC) stimulating factor, and transforming growth factor-β in the MDS group were significantly downregulated (P<0.05), while interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α), and programmed death ligand (B7-H1) were significantly upregulated (P<0.05). For chromosome abnormality analysis, the detection rate of abnormal karyotypes (+8, -8, -20, 20q-, -Y, -7, 5q-) was 30% in the MDS group and 0% in the control group. In conclusion, the up- and downregulated expression of these cytokines might play a key role in the pathogenesis of MDS. Among them, SCF and SDF-1 may play roles in the apoptosis of HSCs in MDS; and IFN-γ, TNF-α, and B7-H1 may be associated with apoptosis of bone marrow cells in MDS. In addition, the abnormal karyotypes might be actively involved in the pathogenesis of MDS. Further studies are required to determine the role of abnormal karyotypes in the occurrence and development of MDS.

Cytokine expression patterns and mesenchymal stem cell karyotypes from the bone marrow microenvironment of patients with myelodysplastic syndromes

International Nuclear Information System (INIS)

Xiong, H.; Yang, X.Y.; Han, J.; Wang, Q.; Zou, Z.L.

2015-01-01

The purpose of this study was to explore cytokine expression patterns and cytogenetic abnormalities of mesenchymal stem cells (MSCs) from the bone marrow microenvironment of Chinese patients with myelodysplastic syndromes (MDS). Bone marrow samples were obtained from 30 cases of MDS (MDS group) and 30 healthy donors (control group). The expression pattern of cytokines was detected by customized protein array. The karyotypes of MSCs were analyzed using fluorescence in situ hybridization. Compared with the control group, leukemia inhibitory factor, stem cell factor (SCF), stromal cell-derived factor (SDF-1), bone morphogenetic protein 4, hematopoietic stem cell (HSC) stimulating factor, and transforming growth factor-β in the MDS group were significantly downregulated (P<0.05), while interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α), and programmed death ligand (B7-H1) were significantly upregulated (P<0.05). For chromosome abnormality analysis, the detection rate of abnormal karyotypes (+8, -8, -20, 20q-, -Y, -7, 5q-) was 30% in the MDS group and 0% in the control group. In conclusion, the up- and downregulated expression of these cytokines might play a key role in the pathogenesis of MDS. Among them, SCF and SDF-1 may play roles in the apoptosis of HSCs in MDS; and IFN-γ, TNF-α, and B7-H1 may be associated with apoptosis of bone marrow cells in MDS. In addition, the abnormal karyotypes might be actively involved in the pathogenesis of MDS. Further studies are required to determine the role of abnormal karyotypes in the occurrence and development of MDS

FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

DEFF Research Database (Denmark)

Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

2010-01-01

Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

Chromosome Evolution in the Free-Living Flatworms: First Evidence of Intrachromosomal Rearrangements in Karyotype Evolution of Macrostomum lignano (Platyhelminthes, Macrostomida)

Science.gov (United States)

Zadesenets, Kira S.; Ershov, Nikita I.; Berezikov, Eugene; Rubtsov, Nikolay B.

2017-01-01

The free-living flatworm Macrostomum lignano is a hidden tetraploid. Its genome was formed by a recent whole genome duplication followed by chromosome fusions. Its karyotype (2n = 8) consists of a pair of large chromosomes (MLI1), which contain regions of all other chromosomes, and three pairs of small metacentric chromosomes. Comparison of MLI1 with metacentrics was performed by painting with microdissected DNA probes and fluorescent in situ hybridization of unique DNA fragments. Regions of MLI1 homologous to small metacentrics appeared to be contiguous. Besides the loss of DNA repeat clusters (pericentromeric and telomeric repeats and the 5S rDNA cluster) from MLI1, the difference between small metacentrics MLI2 and MLI4 and regions homologous to them in MLI1 were revealed. Abnormal karyotypes found in the inbred DV1/10 subline were analyzed, and structurally rearranged chromosomes were described with the painting technique, suggesting the mechanism of their origin. The revealed chromosomal rearrangements generate additional diversity, opening the way toward massive loss of duplicated genes from a duplicated genome. Our findings suggest that the karyotype of M. lignano is in the early stage of genome diploidization after whole genome duplication, and further studies on M. lignano and closely related species can address many questions about karyotype evolution in animals. PMID:29084138

Karyotypic diversity and evolutionary trends in the Neotropical catfish genus Hypostomus Lacépède, 1803 (Teleostei, Siluriformes, Loricariidae

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Anderson Alves

2012-12-01

Full Text Available The family Loricariidae with 813 nominal species is one of the largest fish families of the world. Hypostominae, its more complex subfamily, was recently divided into five tribes. The tribe Hypostomini is composed of a single genus, Hypostomus Lacépède, 1803, which exhibits the largest karyotypic diversity in the family Loricariidae. With the main objective of contributing to a better understanding of the relationship and the patterns of evolution among the karyotypes of Hypostomus species, cytogenetic studies were conducted in six species of the genus from Brazil and Venezuela. The results show a great chromosome variety with diploid numbers ranging from 2n=68 to 2n=76, with a clear predominance of acrocentric chromosomes. The Ag-NORs are located in terminal position in all species analyzed. Three species have single Ag-NORs (Hypostomus albopunctatus (Regan, 1908, H. prope plecostomus (Linnaeus, 1758, and H. prope paulinus (Ihering, 1905 and three have multiple Ag-NORs (H. ancistroides (Ihering, 1911, H. prope iheringi (Regan, 1908, and H. strigaticeps (Regan, 1908. In the process of karyotype evolution of the group, the main type of chromosome rearrangements was possibly centric fissions, which may have been facilitated by the putative tetraploid origin of Hypostomus species. The relationship between the karyotype changes and the evolution in the genus is discussed.

Increased basal and pulsatile secretion of FSH and LH in young men with 47,XXY or 46,XX karyotypes

DEFF Research Database (Denmark)

Aksglaede, L.; Jensen, Rikke Bodin Beck; Carlsen, E.

2008-01-01

testicular failure due to supernumerary X chromosomes. DESIGN: Cross-sectional study. METHODS: In this study, 7 untreated patients with primary gonadal insufficiency due to SRY-positive 46,XX (n=4) and 46,XXY karyotypes (n=3) aged 18.8 years and 25 age-matched healthy controls participated. Reproductive...... basal, pulsatile, and total LH and FSH secretion were associated with significantly more LH peaks per 24 h in comparison with healthy controls. Thus, our data indicate that in patients with Klinefelter syndrome and XX male karyotypes the entire hypothalamic-pituitary-gonadal axis has undergone...

[Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects].

Science.gov (United States)

Liu, Yang; Xie, Jiansheng; Geng, Qian; Xu, Zhiyong; Wu, Weiqin; Luo, Fuwei; Li, Suli; Wang, Qin; Chen, Wubin; Tan, Hongxi; Zhang, Hu

2017-02-10

To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects. The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA). Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV. Combined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.

The ancestral chromosomes of Dromiciops gliroides (Microbiotheridae), and its bearings on the karyotypic evolution of American marsupials.

Science.gov (United States)

Suárez-Villota, Elkin Y; Haro, Ronie E; Vargas, Rodrigo A; Gallardo, Milton H

2016-01-01

The low-numbered 14-chromosome karyotype of marsupials has falsified the fusion hypothesis claiming ancestrality from a 22-chromosome karyotype. Since the 14-chromosome condition of the relict Dromiciops gliroides is reminecent of ancestrality, its interstitial traces of past putative fusions and heterochromatin banding patterns were studied and added to available marsupials' cytogenetic data. Fluorescent in situ hybridization (FISH) and self-genomic in situ hybridization (self-GISH) were used to detect telomeric and repetitive sequences, respectively. These were complemented with C-, fluorescent banding, and centromere immunodetection over mitotic spreads. The presence of interstitial telomeric sequences (ITS) and diploid numbers were reconstructed and mapped onto the marsupial phylogenetic tree. No interstitial, fluorescent signals, but clearly stained telomeric regions were detected by FISH and self-GISH. Heterochromatin distribution was sparse in the telomeric/subtelomeric regions of large submetacentric chromosomes. Large AT-rich blocks were detected in the long arm of four submetacentrics and CG-rich block in the telomeric regions of all chromosomes. The ancestral reconstructions both ITS presence and diploid numbers suggested that ITS are unrelated to fusion events. Although the lack of interstitial signals in D. gliroides' karyotype does not prove absence of past fusions, our data suggests its non-rearranged plesiomorphic condition.

Multi-platform whole-genome microarray analyses refine the epigenetic signature of breast cancer metastasis with gene expression and copy number.

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Joseph Andrews

2010-01-01

Full Text Available We have previously identified genome-wide DNA methylation changes in a cell line model of breast cancer metastasis. These complex epigenetic changes that we observed, along with concurrent karyotype analyses, have led us to hypothesize that complex genomic alterations in cancer cells (deletions, translocations and ploidy are superimposed over promoter-specific methylation events that are responsible for gene-specific expression changes observed in breast cancer metastasis.We undertook simultaneous high-resolution, whole-genome analyses of MDA-MB-468GFP and MDA-MB-468GFP-LN human breast cancer cell lines (an isogenic, paired lymphatic metastasis cell line model using Affymetrix gene expression (U133, promoter (1.0R, and SNP/CNV (SNP 6.0 microarray platforms to correlate data from gene expression, epigenetic (DNA methylation, and combination copy number variant/single nucleotide polymorphism microarrays. Using Partek Software and Ingenuity Pathway Analysis we integrated datasets from these three platforms and detected multiple hypomethylation and hypermethylation events. Many of these epigenetic alterations correlated with gene expression changes. In addition, gene dosage events correlated with the karyotypic differences observed between the cell lines and were reflected in specific promoter methylation patterns. Gene subsets were identified that correlated hyper (and hypo methylation with the loss (or gain of gene expression and in parallel, with gene dosage losses and gains, respectively. Individual gene targets from these subsets were also validated for their methylation, expression and copy number status, and susceptible gene pathways were identified that may indicate how selective advantage drives the processes of tumourigenesis and metastasis.Our approach allows more precisely profiling of functionally relevant epigenetic signatures that are associated with cancer progression and metastasis.

Multidirectional cross-species painting illuminates the history of karyotypic evolution in Perissodactyla

OpenAIRE

Trifonov, V. A.; Stanyon, R.; Nesterenko, A. I.; Fu, B. Y.; Perelman, P. L.; O' Brien, P.C. M.; Stone, G.; Rubtsova, N. V.; Houck, M. L.; Robinson, T. J.; Ferguson Smith, M. A.; Dobigny, Gauthier; Graphodatsky, A. S.; Yang, F. T.

2008-01-01

The order Perissodactyla, the group of odd-toed ungulates, includes three extant families: Equidae, Tapiridae, and Rhinocerotidae. The extremely rapid karyotypic diversification in perissodactyls has so far prevented the establishment of genome-wide homology maps between these three families by traditional cytogenetic approaches. Here we report the first genome-wide comparative chromosome maps of African rhinoceroses, four tapir species, four equine species, and humans. These maps were establ...

Flow Cytometric DNA index, G-band Karyotyping, and Comparative Genomic Hybridization in Detection of High Hyperdiploidy in Childhood Acute Lymphoblastic Leukemia

DEFF Research Database (Denmark)

Nygaard, Ulrikka; Larsen, Jacob; Kristensen, Tim D

2006-01-01

High hyperdiploid acute lymphoblastic leukemia in children is related to a good outcome. Because these patients may be stratified to a low-intensity treatment, we have investigated the sensitivity of flow cytometry (FCM), G-band karyotyping (GBK), and high-resolution comparative genomic hybridiza......High hyperdiploid acute lymphoblastic leukemia in children is related to a good outcome. Because these patients may be stratified to a low-intensity treatment, we have investigated the sensitivity of flow cytometry (FCM), G-band karyotyping (GBK), and high-resolution comparative genomic...

Karyotypic Evolution in Malagasy Flying Foxes (Pteropodidae, Chiroptera) and Their Hipposiderid Relatives as Determined by Comparative Chromosome Painting.

Science.gov (United States)

Richards, Leigh R; Rambau, Ramugondo V; Goodman, Steven M; Taylor, Peter J; Schoeman, M Corrie; Yang, Fengtang; Lamb, Jennifer M

2016-01-01

Pteropodidae and Hipposideridae are 2 of the 9 chiropteran families that occur on Madagascar. Despite major advancements in the systematic study of the island's bat fauna, few karyotypic data exist for endemic species. We utilized G- and C-banding in combination with chromosome painting with Myotismyotis probes to establish a genome-wide homology among Malagasy species belonging to the families Pteropodidae (Pteropus rufus 2n = 38; Rousettus madagascariensis, 2n = 36), Hipposideridae (Hipposideros commersoni s.s., 2n = 52), and a single South African representative of the Rhinolophidae (Rhinolophus clivosus, 2n = 58). Painting probes of M. myotis detected 26, 28, 28, and 29 regions of homology in R. madagascariensis, P. rufus, H. commersoni s.s, and R. clivosus, respectively. Translocations, pericentric inversions, and heterochromatin additions were responsible for karyotypic differences amongst the Malagasy pteropodids. Comparative chromosome painting revealed a novel pericentric inversion on P. rufus chromosome 4. Chromosomal characters suggest a close evolutionary relationship between Rousettus and Pteropus. H. commersoni s.s. shared several chromosomal characters with extralimital congeners but did not exhibit 2 chromosomal synapomorphies proposed for Hipposideridae. This study provides further insight into the ancestral karyotypes of pteropodid and hipposiderid bats and corroborates certain molecular phylogenetic hypotheses. © 2016 S. Karger AG, Basel.

Rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: what would be missed, who should decide?

Science.gov (United States)

Leung, W C; Lau, E T; Lau, W L; Tang, Rebecca; Wong, Shell Fean; Lau, T K; Tse, K T; Wong, S F; To, W K; Ng, Lucy K L; Lao, T T; Tang, Mary H Y

2008-02-01

The application of rapid aneuploidy testing as a stand-alone approach in prenatal diagnosis is much debated. The major criticism of this targeted approach is that it will not detect other chromosomal abnormalities that will be picked up by traditional karyotyping. This study aimed to study the nature of such chromosomal abnormalities and whether parents would choose to terminate affected pregnancies. Retrospective study on a cytogenetic database. Eight public hospitals in Hong Kong. The karyotype results of 19 517 amniotic fluid cultures performed for advanced maternal age (>or=35 years) from 1997 to 2002 were classified according to whether they were detectable by rapid aneuploidy testing. The outcomes of pregnancies with abnormal karyotypes were reviewed from patient records. In all, 333 (1.7%) amniotic fluid cultures yielded abnormal karyotypes; 175 (52.6%) of these were detected by rapid aneuploidy testing, and included trisomy 21 (n=94, 28.2%), trisomy 18 or 13 (n=21, 6.3%), and sex chromosome abnormalities (n=60, 18.0%). The other 158 (47.4%) chromosomal abnormalities were not detectable by rapid aneuploidy testing, of which 63 (18.9%) were regarded to be of potential clinical significance and 95 (28.5%) of no clinical significance. Pregnancy outcomes in 327/333 (98.2%) of these patients were retrieved. In total, 143 (42.9%) of these pregnancies were terminated: 93/94 (98.9%) for trisomy 21, 20/21 (95.2%) for trisomy 18 or 13, 19/60 (31.7%) for sex chromosome abnormalities, and 11/63 (17.5%) for other chromosomal abnormalities with potential clinical significance. There were no terminations in the 95 pregnancies in which karyotyping results were regarded to be of no clinical significance. 'Knowing less' by the rapid aneuploidy stand-alone testing could miss about half of all chromosomal abnormalities detectable by amniocentesis performed for advanced maternal age. Findings from two fifths of the latter were of potential clinical significance, and the parents

Karyotypic evolution of ribosomal sites in buffalo subspecies and their crossbreed

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Tiago Marafiga Degrandi

2014-06-01

Full Text Available Domestic buffaloes are divided into two group based on cytogenetic characteristics and habitats: the "river buffaloes" with 2n = 50 and the "swamp buffaloes", 2n = 48. Nevertheless, their hybrids are viable, fertile and identified by a 2n = 49. In order to have a better characterization of these different cytotypes of buffaloes, and considering that NOR-bearing chromosomes are involved in the rearrangements responsible for the karyotypic differences, we applied silver staining (Ag-NOR and performed fluorescent in situ hybridization (FISH experiments using 18S rDNA as probe. Metaphases were obtained through blood lymphocyte culture of 21 individuals, including river, swamp and hybrid cytotypes. Ag-NOR staining revealed active NORs on six chromosome pairs (3p, 4p, 6, 21, 23, 24 in the river buffaloes, whereas the swamp buffaloes presented only five NOR-bearing pairs (4p, 6, 20, 22, 23. The F1 crossbreed had 11 chromosomes with active NORs, indicating expression of both parental chromosomes. FISH analysis confirmed the numerical divergence identified with Ag-NOR. This result is explained by the loss of the NOR located on chromosome 4p in the river buffalo, which is involved in the tandem fusion with chromosome 9 in this subspecies. A comparison with the ancestral cattle karyotype suggests that the NOR found on the 3p of the river buffalo may have originated from a duplication of ribosomal genes, resulting in the formation of new NOR sites in this subspecies.

46 XX karyotype during male fertility evaluation; case series and literature review

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Ahmad Majzoub

2017-01-01

Full Text Available Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man′s fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients′ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using "46 XX man" as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients′ mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20, 25.8% (8/31, and 42% (13/31 of the patients, respectively. The SRY gene was detected in 36 (83.7% and was absent in the remaining seven (16.3% patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.

Molecular karyotype and chromosomal localization of genes encoding ß-tubulin, cysteine proteinase, hsp 70 and actin in Trypanosoma rangeli

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CB Toaldo

2001-01-01

Full Text Available The molecular karyotype of nine Trypanosoma rangeli strains was analyzed by contour-clamped homogeneous electric field electrophoresis, followed by the chromosomal localization of ß-tubulin, cysteine proteinase, 70 kDa heat shock protein (hsp 70 and actin genes. The T. rangeli strains were isolated from either insects or mammals from El Salvador, Honduras, Venezuela, Colombia, Panama and southern Brazil. Also, T. cruzi CL-Brener clone was included for comparison. Despite the great similarity observed among strains from Brazil, the molecular karyotype of all T. rangeli strains analyzed revealed extensive chromosome polymorphism. In addition, it was possible to distinguish T. rangeli from T. cruzi by the chromosomal DNA electrophoresis pattern. The localization of ß-tubulin genes revealed differences among T. rangeli strains and confirmed the similarity between the isolates from Brazil. Hybridization assays using probes directed to the cysteine proteinase, hsp 70 and actin genes discriminated T. rangeli from T. cruzi, proving that these genes are useful molecular markers for the differential diagnosis between these two species. Numerical analysis based on the molecular karyotype data revealed a high degree of polymorphism among T. rangeli strains isolated from southern Brazil and strains isolated from Central and the northern South America. The T. cruzi reference strain was not clustered with any T. rangeli strain.

Intraspecific karyotypic polymorphism is highly concordant with allozyme variation in Lysimachia mauritiana (Primulaceae: Myrsinoideae) in Taiwan: implications for the colonization history and dispersal patterns of coastal plants

Science.gov (United States)

Kono, Yoshiko; Chung, Kuo-Fang; Chen, Chih-Hui; Hoshi, Yoshikazu; Setoguchi, Hiroaki; Chou, Chang-Hung; Oginuma, Kazuo; Peng, Ching-I

2012-01-01

Background and Aims Investigating intraspecific karyotypic and genetic variations jointly can provide unique insights into how historical, ecological and cytogenetic factors influence microevolution. A coastal herb, Lysimachia mauritiana, exhibits extensive karyotypic polymorphism and displays a complex cytogeographic pattern across the Ryukyus. To explore whether a similar degree of chromosomal variation exists south of the Ryukyus, and in an attempt to ascertain the mechanisms that may have generated the patterns, comprehensive sampling was conducted in Taiwan. Methods Karyotypes were analysed at mitotic metaphase for 550 individuals from 42 populations throughout Taiwan Proper and its adjacent islands. In addition, genetic variation was estimated using 12 allozymes (21 loci) of 314 individuals sampled from 12 localities. Key Results Four chromosome numbers and eight cytotypes, including four endemic cytotypes, were detected. Cytotype distributions were highly structured geographically, with single cytotypes present in most populations and four major cytotypes dominating the north, east and south of Taiwan and the Penghu Archipelago. Allozyme variation was very low and F-statistics indicated an extremely high level of population differentiation, implying limited gene flow among populations. Cluster analysis of allozyme variation uncovered four geographic groups, each corresponding perfectly to the four dominant cytotypes. The geographic structure of cytotype distribution and allozyme variation probably resulted from severe genetic drift triggered by genetic bottlenecks, suggesting that Taiwanese populations were likely to be derived from four independent founder events. In the few localities with multiple cytotypes, cytogeographic patterns and inferences of chromosomal evolution revealed a trend of northward dispersal, consistent with the course of the Kuroshio Current that has been influential in shaping the coastal biota of the region. Conclusions The data

Bio-metric study of pig karyotype; Etude biometrique du caryotype du porc

Energy Technology Data Exchange (ETDEWEB)

Haag, J; Lacourly, N; Nizza, P [Commissariat a l' Energie Atomique, Saclay (France). Centre d' Etudes Nucleaires

1969-07-01

This study has a twofold purpose, the former is to determine the swine karyotype as accurately as possible, the latter is to try and develop a method of automatic classification and to show its possibilities and limits. (authors) [French] Cette etude a un double objet: d'une part, de definir de la facon aussi precise que possible le caryotype du porc et d'autre part, de tenter une methode de classification automatique et d'en montrer les possibilites ainsi que les limites. (auteurs)

Comparative Study on the Karyotype of Two Species of Megaulacobothrus Caud., 1921 (Acridoidea

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Dorjsuren Altanchimeg

2013-12-01

Full Text Available The karyotypes of Chorthippus ( Megaulacobothrus aethalinus (Zubovsky, 1899 and Chorthippus ( Megaulacobothrus chinensis Tarbinsky, 1927 were compared by means of the conventional cytogenetic method. The results showed that chromosome numbers of two species were 2n( ♂ =17=16+XO, in which three pairs of autosomal and sex chromosomes were terminal chromosomes, and the other fi ve pairs of autosomal ones were metacentric chromosomes, which are the diagnostic characters of Chorthippus . However, these two species could be identifi ed by the different formulae and the relative length of chromosomes. The chromosome formula of Chorthippus (M. aethalinus is K(2n, ♂ =6m+11t=6L+6M+4S+XO, whereas that of Chorthippus (M. chinensis is K(2n, ♂ =6m+11t=6L+8M+2S+XO. In addition, we found that the location and the relative length of sex chromosomes in the two species were different from each other. Sex chromosome of Chorthippus (M. aethalinus located at fi fth position and its relative length was equal to 8.33%, whereas that of Chorthippus (M. chinensis was at eighth position and its relative length was equal to 5.53%. These results showed that signifi cant different karyotype features exist in the two compared species of Chorthippus .

A new karyotype for the genus Cavia from a southern island of Brazil (Rodentia - Caviidae

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A. Gava

1998-03-01

Full Text Available Intraspecific karyotype variation in mammal species is very common and often caused by centromeric fusion of acrocentric chromosomes. We describe here a new karyotype 2n = 62 (FN = 112 for the genus Cavia from the Moleques do Sul Islands, of the southern coast of Brazil. We analyzed two male and four female karyotypes that had twenty-four biarmed pairs and six pairs of acrocentric chromosomes. The sexual pair consisted of a metacentric X-chromosome and a large acrocentric Y. C-bands were found in the centromeric and pericentromeric regions of almost all chromosomes, except for some small biarmed and acrocentric ones. Nucleolus organizer regions appeared in two biarmed chromosomes, and G-banding patterns were also seen.RESUMO A variação cariotípica nas espécies de mamíferos é bastante comum e geralmente causada pela fusão de cromossomos acrocêntricos. Foi descrito neste trabalho um novo cariótipo, com 2n = 62 e FN = 112, para o gênero Cavia proveniente das ilhas Moleques do Sul, da costa sul do Brasil. Foram analisados os cariótipos de dois machos e quatro fêmeas que possuiam 24 pares de cromossomos com dois braços e seis pares de acrocêntricos. O par sexual era constituído por um cromossomo X metacêntrico grande e um Y acrocêntrico. As bandas C estavam localizadas nas regiões centroméricas e pericentroméricas da maioria dos cromossomos, com exceção de alguns acrocêntricos e os cromossomos de dois braços menores. As regiões organizadoras de nucléolo ocorreram em dois cromossomos com dois braços e o padrão de bandamento G foi também apresentado.

Analysis of horse genomes provides insight into the diversification and adaptive evolution of karyotype.

Science.gov (United States)

Huang, Jinlong; Zhao, Yiping; Shiraigol, Wunierfu; Li, Bei; Bai, Dongyi; Ye, Weixing; Daidiikhuu, Dorjsuren; Yang, Lihua; Jin, Burenqiqige; Zhao, Qinan; Gao, Yahan; Wu, Jing; Bao, Wuyundalai; Li, Anaer; Zhang, Yuhong; Han, Haige; Bai, Haitang; Bao, Yanqing; Zhao, Lele; Zhai, Zhengxiao; Zhao, Wenjing; Sun, Zikui; Zhang, Yan; Meng, He; Dugarjaviin, Manglai

2014-05-14

Karyotypic diversification is more prominent in Equus species than in other mammals. Here, using next generation sequencing technology, we generated and de novo assembled quality genomes sequences for a male wild horse (Przewalski's horse) and a male domestic horse (Mongolian horse), with about 93-fold and 91-fold coverage, respectively. Portion of Y chromosome from wild horse assemblies (3 M bp) and Mongolian horse (2 M bp) were also sequenced and de novo assembled. We confirmed a Robertsonian translocation event through the wild horse's chromosomes 23 and 24, which contained sequences that were highly homologous with those on the domestic horse's chromosome 5. The four main types of rearrangement, insertion of unknown origin, inserted duplication, inversion, and relocation, are not evenly distributed on all the chromosomes, and some chromosomes, such as the X chromosome, contain more rearrangements than others, and the number of inversions is far less than the number of insertions and relocations in the horse genome. Furthermore, we discovered the percentages of LINE_L1 and LTR_ERV1 are significantly increased in rearrangement regions. The analysis results of the two representative Equus species genomes improved our knowledge of Equus chromosome rearrangement and karyotype evolution.

Karyotype analysis and sex determination in Australian Brush-turkeys (Alectura lathami.

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Madison T Ortega

Full Text Available Sexual differentiation across taxa may be due to genetic sex determination (GSD and/or temperature sex determination (TSD. In many mammals, males are heterogametic (XY; whereas females are homogametic (XX. In most birds, the opposite is the case with females being heterogametic (ZW and males the homogametic sex (ZZ. Many reptile species lack sex chromosomes, and instead, sexual differentiation is influenced by temperature with specific temperatures promoting males or females varying across species possessing this form of sexual differentiation, although TSD has recently been shown to override GSD in Australian central beaded dragons (Pogona vitticeps. There has been speculation that Australian Brush-turkeys (Alectura lathami exhibit TSD alone and/or in combination with GSD. Thus, we sought to determine if this species possesses sex chromosomes. Blood was collected from one sexually mature female and two sexually mature males residing at Sylvan Heights Bird Park (SHBP and shipped for karyotype analysis. Karyotype analysis revealed that contrary to speculation, Australian Brush-turkeys possess the classic avian ZW/ZZ sex chromosomes. It remains a possibility that a biased primary sex ratio of Australian Brush-turkeys might be influenced by maternal condition prior to ovulation that result in her laying predominantly Z- or W-bearing eggs and/or sex-biased mortality due to higher sensitivity of one sex in environmental conditions. A better understanding of how maternal and extrinsic factors might differentially modulate ovulation of Z- or W-bearing eggs and hatching of developing chicks possessing ZW or ZZ sex chromosomes could be essential in conservation strategies used to save endangered members of Megapodiidae.

Karyotypical characteristics of two allopatric African populations of anhydrobiotic Polypedilum Kieffer, 1912 (Diptera, Chironomidae) originating from Nigeria and Malawi.

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Petrova, Ninel A; Cornette, Richard; Shimura, Sachiko; Gusev, Oleg A; Pemba, Dylo; Kikawada, Takahiro; Zhirov, Sergey V; Okuda, Takashi

2015-01-01

The African chironomid Polypedilumvanderplanki Hinton, 1951 is the only chironomid able to withstand almost complete desiccation in an ametabolic state known as anhydrobiosis. The karyotypes of two allopatric populations of this anhydrobiotic chironomid, one from Nigeria and another from Malawi, were described according to the polytene giant chromosomes. The karyotype from the Nigerian population was presented as the reference chromosome map for Polypedilumvanderplanki. Both populations, Nigerian and Malawian, showed the same number of chromosomes (2n=8), but important differences were found in the band sequences of polytene chromosomes, and in the number and the arrangement of active regions between the two populations. Such important differences raise the possibility that the Malawian population could constitute a distinct new species of anhydrobiotic chironomid.

HEK293 in cell biology and cancer research: phenotype, karyotype, tumorigenicity, and stress-induced genome-phenotype evolution.

Science.gov (United States)

Stepanenko, A A; Dmitrenko, V V

2015-09-15

293 cell line (widely known as the Human Embryonic Kidney 293 cells) and its derivatives were the most used cells after HeLa in cell biology studies and after CHO in biotechnology as a vehicle for the production of adenoviral vaccines and recombinant proteins, for analysis of the neuronal synapse formation, in electrophysiology and neuropharmacology. Despite the historically long-term productive exploitation, the origin, phenotype, karyotype, and tumorigenicity of 293 cells are still debated. 293 cells were considered the kidney epithelial cells or even fibroblasts. However, 293 cells demonstrate no evident tissue-specific gene expression signature and express the markers of renal progenitor cells, neuronal cells and adrenal gland. This complicates efforts to reveal the authentic cell type/tissue of origin. On the other hand, the potential to propagate the highly neurotropic viruses, inducible synaptogenesis, functionality of the endogenous neuron-specific voltage-gated channels, and response to the diverse agonists implicated in neuronal signaling give credibility to consider 293 cells of neuronal lineage phenotype. The compound phenotype of 293 cells can be due to heterogeneous, unstable karyotype. The mean chromosome number and chromosome aberrations differ between 293 cells and derivatives as well as between 293 cells from the different cell banks/labs. 293 cells are tumorigenic, whereas acute changes of expression of the cancer-associated genes aggravate tumorigenicity by promoting chromosome instability. Importantly, the procedure of a stable empty vector transfection can also impact karyotype and phenotype. The discussed issues caution against misinterpretations and pitfalls during the different experimental manipulations with 293 cells. Copyright © 2015 Elsevier B.V. All rights reserved.

Karyotype analysis of Lilium longiflorum and Lilium rubellum by chromosome banding and fluorescence in situ hybridisation

NARCIS (Netherlands)

Lim, K.B.; Wennekes, J.; Jong, de J.H.S.G.M.; Jacobsen, E.; Tuyl, van J.M.

2001-01-01

Detailed karyotypes of Lilium longiflorum and L. rubellum were constructed on the basis of chromosome arm lengths, C-banding, AgNO3 staining, and PI-DAPI banding, together with fluorescence in situ hybridisation (FISH) with the 5S and 45S rDNA sequences as probes. The C-banding patterns that were

Karyotypes of three species of molossid bats (Molossidae, Chiroptera) from India and western Africa

Czech Academy of Sciences Publication Activity Database

Sreepada, K. S.; Koubínová, D.; Konečný, Adam; Koubek, Petr; Ráb, Petr; Rábová, Marie; Zima, Jan

2008-01-01

Roč. 57, č. 4 (2008), s. 347-357 ISSN 0139-7893 R&D Projects: GA AV ČR IAA6093403; GA MŠk LC06073 Institutional research plan: CEZ:AV0Z60930519; CEZ:AV0Z50450515 Keywords : bats * karyotype evolution * chromosome banding Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.522, year: 2008 http://www.ivb.cz/folia/57/4/347-357_MS1427.pdf

A new karyotype of Calomyscus from the Khorasan Province, Iran

OpenAIRE

Esmaeeli Somayeh; Darvish Jamshid; Haddad Farhang; Ghasemzadeh Fereshteh

2008-01-01

Abstract We report a new karyotype of Calomyscus from two localities of the Khorasan Province (Aghdarband, 36° 11’ 3”N, 60° 44’ 6” E and Khajemorad, 36° 8’ 5” N, 59° 41’ 58” E). Chromosomes were examined by conventional staining and C-banding techniques. The diploid chromosome number (2n) and the fundamental autosomal arm number (FNa) were 44 and 60 respectively. The autosomal set consisted of 12 pairs of telocentrics, 5 pairs of acrocent...

Karyotypic relationships among Equus grevyi, Equus burchelli and domestic horse defined using horse chromosome arm-specific probes.

Science.gov (United States)

Musilova, P; Kubickova, S; Zrnova, E; Horin, P; Vahala, J; Rubes, J

2007-01-01

Using laser microdissection we prepared a set of horse chromosome arm-specific probes. Most of the probes were generated from horse chromosomes, some of them were derived from Equus zebra hartmannae. The set of probes were hybridized onto E. grevyi chromosomes in order to establish a genome-wide chromosomal correspondence between this zebra and horse. The use of arm-specific probes provided us with more information on the mutual arrangement of the genomes than we could obtain by means of whole-chromosome paints generated by flow sorting, even if we used reciprocal painting with probe sets from both species. By comparison of our results and results of comparative mapping in E. burchelli, we also established the chromosomal correspondence between E. grevyi and E. burchelli, providing evidence for a very close karyotypic relationship between these two zebra species. Establishment of the comparative map for E. grevyi contributes to the knowledge of the karyotypic phylogeny in the Equidae family.

Sorting cancer karyotypes using double-cut-and-joins, duplications and deletions.

Science.gov (United States)

Zeira, Ron; Shamir, Ron

2018-05-03

Problems of genome rearrangement are central in both evolution and cancer research. Most genome rearrangement models assume that the genome contains a single copy of each gene and the only changes in the genome are structural, i.e., reordering of segments. In contrast, tumor genomes also undergo numerical changes such as deletions and duplications, and thus the number of copies of genes varies. Dealing with unequal gene content is a very challenging task, addressed by few algorithms to date. More realistic models are needed to help trace genome evolution during tumorigenesis. Here we present a model for the evolution of genomes with multiple gene copies using the operation types double-cut-and-joins, duplications and deletions. The events supported by the model are reversals, translocations, tandem duplications, segmental deletions, and chromosomal amplifications and deletions, covering most types of structural and numerical changes observed in tumor samples. Our goal is to find a series of operations of minimum length that transform one karyotype into the other. We show that the problem is NP-hard and give an integer linear programming formulation that solves the problem exactly under some mild assumptions. We test our method on simulated genomes and on ovarian cancer genomes. Our study advances the state of the art in two ways: It allows a broader set of operations than extant models, thus being more realistic, and it is the first study attempting to reconstruct the full sequence of structural and numerical events during cancer evolution. Code and data are available in https://github.com/Shamir-Lab/Sorting-Cancer-Karyotypes. ronzeira@post.tau.ac.il, rshamir@tau.ac.il. Supplementary data are available at Bioinformatics online.

Karyotype evolution in Phalaris (Poaceae): The role of reductional dysploidy, polyploidy and chromosome alteration in a wide-spread and diverse genus.

Science.gov (United States)

Winterfeld, Grit; Becher, Hannes; Voshell, Stephanie; Hilu, Khidir; Röser, Martin

2018-01-01

Karyotype characteristics can provide valuable information on genome evolution and speciation, in particular in taxa with varying basic chromosome numbers and ploidy levels. Due to its worldwide distribution, remarkable variability in morphological traits and the fact that ploidy change plays a key role in its evolution, the canary grass genus Phalaris (Poaceae) is an excellent study system to investigate the role of chromosomal changes in species diversification and expansion. Phalaris comprises diploid species with two basic chromosome numbers of x = 6 and 7 as well as polyploids based on x = 7. To identify distinct karyotype structures and to trace chromosome evolution within the genus, we apply fluorescence in situ hybridisation (FISH) of 5S and 45S rDNA probes in four diploid and four tetraploid Phalaris species of both basic numbers. The data agree with a dysploid reduction from x = 7 to x = 6 as the result of reciprocal translocations between three chromosomes of an ancestor with a diploid chromosome complement of 2n = 14. We recognize three different genomes in the genus: (1) the exclusively Mediterranean genome A based on x = 6, (2) the cosmopolitan genome B based on x = 7 and (3) a genome C based on x = 7 and with a distribution in the Mediterranean and the Middle East. Both auto- and allopolyploidy of genomes B and C are suggested for the formation of tetraploids. The chromosomal divergence observed in Phalaris can be explained by the occurrence of dysploidy, the emergence of three different genomes, and the chromosome rearrangements accompanied by karyotype change and polyploidization. Mapping the recognized karyotypes on the existing phylogenetic tree suggests that genomes A and C are restricted to sections Phalaris and Bulbophalaris, respectively, while genome B occurs across all taxa with x = 7.

Karyotype evolution in Phalaris (Poaceae: The role of reductional dysploidy, polyploidy and chromosome alteration in a wide-spread and diverse genus.

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Grit Winterfeld

Full Text Available Karyotype characteristics can provide valuable information on genome evolution and speciation, in particular in taxa with varying basic chromosome numbers and ploidy levels. Due to its worldwide distribution, remarkable variability in morphological traits and the fact that ploidy change plays a key role in its evolution, the canary grass genus Phalaris (Poaceae is an excellent study system to investigate the role of chromosomal changes in species diversification and expansion. Phalaris comprises diploid species with two basic chromosome numbers of x = 6 and 7 as well as polyploids based on x = 7. To identify distinct karyotype structures and to trace chromosome evolution within the genus, we apply fluorescence in situ hybridisation (FISH of 5S and 45S rDNA probes in four diploid and four tetraploid Phalaris species of both basic numbers. The data agree with a dysploid reduction from x = 7 to x = 6 as the result of reciprocal translocations between three chromosomes of an ancestor with a diploid chromosome complement of 2n = 14. We recognize three different genomes in the genus: (1 the exclusively Mediterranean genome A based on x = 6, (2 the cosmopolitan genome B based on x = 7 and (3 a genome C based on x = 7 and with a distribution in the Mediterranean and the Middle East. Both auto- and allopolyploidy of genomes B and C are suggested for the formation of tetraploids. The chromosomal divergence observed in Phalaris can be explained by the occurrence of dysploidy, the emergence of three different genomes, and the chromosome rearrangements accompanied by karyotype change and polyploidization. Mapping the recognized karyotypes on the existing phylogenetic tree suggests that genomes A and C are restricted to sections Phalaris and Bulbophalaris, respectively, while genome B occurs across all taxa with x = 7.

Clonal karyotypic abnormalities in colorectal adenomas: clues to the early genetic events in the adenoma-carcinoma sequence

DEFF Research Database (Denmark)

Bomme, L; Bardi, G; Pandis, N

1994-01-01

and together with other numerical changes in another. A +7 was also present in one case with structural aberrations. Other recurrent numerical aberrations were -14 and -18, both found in 2 adenomas with structural karyotypic changes; in addition, one chromosome 14 was lost in one of the tumors with only...

Analysis of horse genomes provides insight into the diversification and adaptive evolution of karyotype

OpenAIRE

Huang, J. L.; Zhao, Y. P.; Shiraigol, W.; Li, B.; Bai, D. Y.; Ye, W. X.; Daidiikhuu, D.; Yang, L. H.; Jin, Brqqg; Zhao, Q. A.; Gao, Y. H.; Wu, J.; Bao, Wydl; Li, A. A.; Zhang, Y. H. Percival

2014-01-01

Karyotypic diversification is more prominent in Equus species than in other mammals. Here, using next generation sequencing technology, we generated and de novo assembled quality genomes sequences for a male wild horse (Przewalski's horse) and a male domestic horse (Mongolian horse), with about 93-fold and 91-fold coverage, respectively. Portion of Y chromosome from wild horse assemblies (3 M bp) and Mongolian horse (2 M bp) were also sequenced and de novo assembled. We confirmed a Robertsoni...

Karyotype supporting Mugil curema Valenciennes, 1836 and Mugil gaimardianus Desmarest, 1831 (Mugilidae: Teleostei as two valid nominal species

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Mauro Nirchio

2003-03-01

Full Text Available In this study, we present the karyotypic features of two taxa, curema and gaimardianus (genus Mugil, supposed to be synonyms by some authors. Their cytogenetic differences are conspicuous and unambiguous, providing evidence that Mugil curema and Mugil gaimardanus are two valid nominal species.

Individualized choice in prenatal diagnosis : the impact of karyotyping and standalone rapid aneuploidy detection on quality of life

NARCIS (Netherlands)

Boormans, E. M. A.; Birnie, E.; Oepkes, D.; Boekkooi, P. F.; Bonsel, G. J.; van Lith, J. M. M.

2010-01-01

Objective To assess the reasons and perceptions of women who are offered a choice between karyotyping and standalone rapid aneuploidy detection (RAD) and to compare the impact of both tests on anxiety and health-related quality of life Methods In this prospective comparative study, women undergoing

Variation of morphology, karyotype and protein band pattern of adenium (Adenium obesum varieties

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PRABANG SETYONO

2009-07-01

Full Text Available Hastuti D, Suranto, Setyono P. 2009. Variation of morphology, karyotype and protein band pattern of adenium (Adenium obesum varieties. Nusantara Bioscience 1: 78-83. The aim of this research to find out the Adenium obesum variation from six varieties, namely: obesum, cery, red lucas, red fanta , white bigben and harry potter based on morphology, karyotype, as well as protein banding pattern. The chromosome preparation was made using semi-permanent squash method from the tip of root plant; while protein banding pattern was made using SDS-PAGE method. Qualitative data included shape and color of the leave and flower described from each variety. Data were presented in morphometry and analyzed using ANOVA and then followed by DMRT with 5% of confidence levels, indicated significance difference. Protein banding pattern, the root, stem, leave and all organs were analyzed using Hierarchical Cluster Analysis method with Average Linkage (between Groups using SPSS 10.0. The result of research shows that the six A. obesum varieties have morphological character with no variation of light green to dark green leave, not hairy, smooth leave bone, meanwhile for light red to dark red flower crown color although some of them are white and the same funnel color, yellow. All varieties of A. obesum have same number of chromosome, 2n = 22 and shows the difference ranging from 2.56 to 5.13 um. In the banding pattern formed qualitatively, there is variation among the six varieties.

Karyotypes and Distribution of Tandem Repeat Sequences in Brassica nigra Determined by Fluorescence in situ Hybridization

Czech Academy of Sciences Publication Activity Database

Wang, G.; He, Q.; Macas, Jiří; Novák, Petr; Neumann, Pavel; Meng, D.; Zhao, H.; Guo, N.; Han, S.; Zong, M.; Jin, W.; Liu, F.

2017-01-01

Roč. 152, č. 3 (2017), s. 158-165 ISSN 1424-8581 R&D Projects: GA ČR GBP501/12/G090 Institutional support: RVO:60077344 Keywords : asymmetric somatic hybridization * Fluorescence in situ hybridization * Karyotype * (Peri) centromere Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 1.354, year: 2016

Comparison of the karyotypes ofPsathyrostachys juncea andP. huashanica (Poaceae) studied by banding techniques

DEFF Research Database (Denmark)

Linde-Laursen, Ib; Bothmer, R. von

1986-01-01

. The patterns of both taxa are polymorphic, supporting that both taxa are outbreeders. The karyotypic characters suggest that P. juncea is more closely related to P. fragilis than either is to P. huashanica. N-banding stains weakly. Silver nitrate staining demonstrates that nucleolus organizers of both species...... have different nucleolus forming capacities. The presence of micronucleoli suggests that both species have an extra unidentified chromosome with nucleolus forming capacity....

Karyotypic variation in Rhinophylla pumilio Peters, 1865 and comparative analysis with representatives of two subfamilies of Phyllostomidae (Chiroptera

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A Gomes

2012-05-01

Full Text Available The family Phyllostomidae belongs to the most abundant and diverse group of bats in the Neotropics with more morphological traits variation at the family level than any other group within mammals. In this work, we present data of chromosome banding (G, C and Ag-NOR and Fluorescence In Situ Hybridization (FISH for representatives of Rhinophylla pumilio Peters, 1865 collected in four states of Brazil (Amazonas, Bahia, Mato Grosso and Pará. Two karyomorphs were found in this species: 2n=34, FN=64 in populations from western Pará and Mato Grosso states and 2n=34, FN=62 from Amazonas, Bahia, and northeastern Pará and Marajó Island (northern. Difference in the Fundamental Number is determined by variation in the size of the Nucleolar Organizer Region (NOR accompanied with heterochromatin on chromosomes of pair 16 or, alternatively, a pericentric inversion. The C-banding technique detected constitutive heterochromatin in the centromeric regions of all chromosomes and on the distal part of the long arm of pair 15 of specimens from all localities. FISH with a DNA telomeric probe did not show any interstitial sequence, and an 18S rDNA probe and silver staining revealed the presence of NOR in the long arm of the pair 15, associated with heterochromatin, and in the short arm of the pair 16 for all specimens. The intra-specific analysis using chromosome banding did not show any significant difference between the samples. The comparative analyses using G-banding have shown that nearly all chromosomes of R. pumilio were conserved in the chromosome complements of Glossophaga soricina Pallas, 1766, Phyllostomus hastatus Pallas, 1767, Phyllostomus discolor Wagner, 1843 and Mimon crenulatum Geoffroy, 1801, with a single chromosomal pair unique to R. pumilio (pair 15. However, two chromosomes of M. crenulatum are polymorphic for two independent pericentric inversions. The karyotype with 2n=34, NF=62 is probably the ancestral one for the other karyotypes

Karyotype study of the South American fruit fly, Anastrepha fraterculus (Wied.) in Argentina

International Nuclear Information System (INIS)

Lifschitz, E.; Manso, F.; Basso, A.

1999-01-01

The most frequent karyotype of Anastrepha fraterculus in Argentina is described here on the basis of mitotic metaphase morphology. It was named ''fraterculus Arg 1''. The diploid number is 2n=10+XX/XY and in males it comprises five homomorphic pairs and one heteomorphic pair, the latter being the sexual pair. Samples from different populations were cytologically analyzed, and ''fraterculus Arg 1'' is present in all of them at a high frequency (about 60%). A typical C band pattern of the X chromosome was found only in the Montecarlo (Misiones province) population. (author)

Meta-analyses triggered by previous (false-)significant findings : Problems and solutions

NARCIS (Netherlands)

Schuit, Ewoud; Roes, Kit C B; Mol, Ben W J; Kwee, Anneke; Moons, Karel G M; Groenwold, Rolf H H

2015-01-01

BACKGROUND: Meta-analyses are typically triggered by a (potentially false-significant) finding in one of the preceding primary studies. We studied consequences of meta-analysis investigating effects when primary studies that triggered such meta-analysis are also included. METHODS: We analytically

Chromosomal Rearrangements in Post-Chernobyl Papillary Thyroid Carcinomas: Evaluation by Spectral Karyotyping and Automated Interphase FISH

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Ludwig Hieber

2011-01-01

Full Text Available Structural genomic rearrangements are frequent findings in human cancers. Therefore, papillary thyroid carcinomas (PTCs were investigated for chromosomal aberrations and rearrangements of the RET proto-oncogene. For this purpose, primary cultures from 23 PTC have been established and metaphase preparations were analysed by spectral karyotyping (SKY. In addition, interphase cell preparations of the same cases were investigated by fluorescence in situ hybridisation (FISH for the presence of RET/PTC rearrangements using RET-specific DNA probes. SKY analysis of PTC revealed structural aberrations of chromosome 11 and several numerical aberrations with frequent loss of chromosomes 20, 21, and 22. FISH analysis for RET/PTC rearrangements showed prevalence of this rearrangement in 72% (16 out of 22 of cases. However, only subpopulations of tumour cells exhibited this rearrangement indicating genetic heterogeneity. The comparison of visual and automated scoring of FISH signals revealed concordant results in 19 out of 22 cases (87% indicating reliable scoring results using the optimised scoring parameter for RET/PTC with the automated Metafer4 system. It can be concluded from this study that genomic rearrangements are frequent in PTC and therefore important events in thyroid carcinogenesis.

Karyotype Reorganization in the Hokou Gecko (Gekko hokouensis, Gekkonidae): The Process of Microchromosome Disappearance in Gekkota.

Science.gov (United States)

Srikulnath, Kornsorn; Uno, Yoshinobu; Nishida, Chizuko; Ota, Hidetoshi; Matsuda, Yoichi

2015-01-01

The Hokou gecko (Gekko hokouensis: Gekkonidae, Gekkota, Squamata) has the chromosome number 2n = 38, with no microchromosomes. For molecular cytogenetic characterization of the gekkotan karyotype, we constructed a cytogenetic map for G. hokouensis, which retains the ancestral karyotype of Gekkota, with 86 functional genes, and compared it with cytogenetic maps for four Toxicofera species that have many microchromosomes (Elaphe quadrivirgata, Varanus salvator macromaculatus, Leiolepis reevesii rubritaeniata, and Anolis carolinensis) and that for a lacertid species (Lacerta agilis) with only one pair of autosomal microchromosomes. Ten pairs of G. hokouensis chromosomes [GHO1, 2, 3, Z(4), 6, 7, 8, 13, 14, and 15] showed highly conserved linkage homology with macrochromosomes and/or macrochromosome arms of the four Toxicofera species and corresponded to eight L. agilis macrochromosomes (LAG). However, GHO5, GHO9, GHO10, GHO11, and LAG6 were composed of chromosome segments that have a homology with Toxicofera microchromosomes, and no homology was found in the chromosomes between G. hokouensis and L. agilis. These results suggest that repeated fusions of microchromosomes may have occurred independently in each lineage of Gekkota and Lacertidae, leading to the disappearance of microchromosomes and appearance of small-sized macrochromosomes.

Analysis of horse genomes provides insight into the diversification and adaptive evolution of karyotype

OpenAIRE

Huang, Jinlong; Zhao, Yiping; Shiraigol, Wunierfu; Li, Bei; Bai, Dongyi; Ye, Weixing; Daidiikhuu, Dorjsuren; Yang, Lihua; Jin, Burenqiqige; Zhao, Qinan; Gao, Yahan; Wu, Jing; Bao, Wuyundalai; Li, Anaer; Zhang, Yuhong

2014-01-01

Karyotypic diversification is more prominent in Equus species than in other mammals. Here, using next generation sequencing technology, we generated and de novo assembled quality genomes sequences for a male wild horse (Przewalski's horse) and a male domestic horse (Mongolian horse), with about 93-fold and 91-fold coverage, respectively. Portion of Y chromosome from wild horse assemblies (3 M bp) and Mongolian horse (2 M bp) were also sequenced and de novo assembled. We confirmed a Robertsoni...

Cytogenetic analyses of two endemic fish species from the São Francisco River basin: Conorhynchus conirostris and Lophiosilurus alexandri (Siluriformes

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Marilza Barbosa de Almeida Marques

2008-01-01

Full Text Available Two Siluriformes species endemic to the São Francisco River basin were characterized by conventional and differential cytogenetic analyses involving C-banding, Ag-nucleolar organizer region (NOR and chromomycin A3 (CMA3 staining, and FISH (fluorescent in situ hybridization with 18S and 5S rDNA probes. Conorhynchus conirostris presents a higher diploid number (2n = 60 than those detected in Pimelodidae representatives, whereas Lophiosilurus alexandri, with a karyotype of 2n = 54 chromosomes, presents a chromosomal constitution similar to that found in the family Pseudopimelodidae. Plesiomorphic characteristics such as single NORs at terminal positions are found in both species, as revealed by CMA3 and silver nitrate staining, and FISH with a 18S rDNA probe. C-banding evidenced centromeric and telomeric heterochromatic blocks distributed over most of the chromosomes with a conspicuous heterochromatin segment in a pair of submetacentric chromosomes in L. alexandri. Such karyotype data, if compared to the cytogenetic pattern of other Siluriformes species, can be partially related to their degree of endemism, favorable to the occurrence and fixation of chromosomal rearrangements. The present study in representatives from these two Siluriformes families from the São Francisco River contributes to a better understanding of the karyotype evolution in species of this important order of Neotropical fishes.

Karyotypes and fish detection of 5s and 45s rdna loci in chinese medicinal plant atractylodes lancea subsp. luotianensis: cytological evidence for the new taxonomic unit

International Nuclear Information System (INIS)

Duan, Y.S.; Zhu, B.; Li, Z.Y.

2015-01-01

Atractylodes lancea (Thunb.) DC. in the Asteraceae family produces the atractylodes rhizome which is widely used as a traditional medicine in China. The subspecies A. lancea (Thunb.) DC subsp. Luotianensis distributed in mountainous Luotian and Yingshan regions in Hubei Province presented distinct morphology and superior medicinal quality. This study firstly reported the chromosome karyotype of this subspecies and the detection of 5S and 45S rDNA loci by fluorescent in situ hybridization. The karyotype was 2n=24=12m+12sm (2SAT). A single locus of 5S rDNA and two loci of 45S rDNA loci were identified and separated on different chromosomes. Its one pair of the satellited chromosomes rather than two pairs in other Atractylodes species yet still with 2n=24 occurred likely after its occupation of this geographic location. The evidence of karyotype differentiation of this subspecies native to the area is useful for elucidating the genome structure and identifying chromosomes. (author)

Genomic instability in rat: Breakpoints induced by ionising radiation and interstitial telomeric-like sequences

International Nuclear Information System (INIS)

Camats, Nuria; Ruiz-Herrera, Aurora; Parrilla, Juan Jose; Acien, Maribel; Paya, Pilar; Giulotto, Elena; Egozcue, Josep; Garcia, Francisca; Garcia, Montserrat

2006-01-01

The Norwegian rat (Rattus norvegicus) is the most widely studied experimental species in biomedical research although little is known about its chromosomal structure. The characterisation of possible unstable regions of the karyotype of this species would contribute to the better understanding of its genomic architecture. The cytogenetic effects of ionising radiation have been widely used for the study of genomic instability, and the importance of interstitial telomeric-like sequences (ITSs) in instability of the genome has also been reported in previous studies in vertebrates. In order to describe the unstable chromosomal regions of R. norvegicus, the distribution of breakpoints induced by X-irradiation and ITSs in its karyotype were analysed in this work. For the X-irradiation analysis, 52 foetuses (from 14 irradiated rats) were studied, 4803 metaphases were analysed, and a total of 456 breakpoints induced by X-rays were detected, located in 114 chromosomal bands, with 25 of them significantly affected by X-irradiation (hot spots). For the analysis of ITSs, three foetuses (from three rats) were studied, 305 metaphases were analysed and 121 ITSs were detected, widely distributed in the karyotype of this species. Seventy-six percent of all hot spots analysed in this study were co-localised with ITSs

Genomic instability in rat: Breakpoints induced by ionising radiation and interstitial telomeric-like sequences

Energy Technology Data Exchange (ETDEWEB)

Camats, Nuria [Institut de Biotecnologia i Biomedicina (IBB), Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Departament de Biologia Cel.lular, Fisiologia i Immunologia Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Ruiz-Herrera, Aurora [Departament de Biologia Cel.lular, Fisiologia i Immunologia Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Parrilla, Juan Jose [Servicio de Ginecologia y Obstetricia, Hospital Universitario Virgen de la Arrixaca, Ctra, Madrid-Cartagena, s/n, El Palmar, 30120 Murcia (Spain); Acien, Maribel [Servicio de Ginecologia y Obstetricia, Hospital Universitario Virgen de la Arrixaca, Ctra, Madrid-Cartagena, s/n, El Palmar, 30120 Murcia (Spain); Paya, Pilar [Servicio de Ginecologia y Obstetricia, Hospital Universitario Virgen de la Arrixaca, Ctra, Madrid-Cartagena, s/n, El Palmar, 30120 Murcia (Spain); Giulotto, Elena [Dipartimento di Genetica e Microbiologia Adriano Buzzati Traverso, Universita degli Studi di Pavia, 27100 Pavia (Italy); Egozcue, Josep [Departament de Biologia Cel.lular, Fisiologia i Immunologia Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Garcia, Francisca [Institut de Biotecnologia i Biomedicina (IBB), Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Garcia, Montserrat [Institut de Biotecnologia i Biomedicina (IBB), Universitat Autonoma de Barcelona, 08193 Barcelona (Spain) and Departament de Biologia Cellular, Fisiologia i Immunologia Universitat Autonoma de Barcelona, 08193 Barcelona (Spain)]. E-mail: Montserrat.Garcia.Caldes@uab.es

2006-03-20

The Norwegian rat (Rattus norvegicus) is the most widely studied experimental species in biomedical research although little is known about its chromosomal structure. The characterisation of possible unstable regions of the karyotype of this species would contribute to the better understanding of its genomic architecture. The cytogenetic effects of ionising radiation have been widely used for the study of genomic instability, and the importance of interstitial telomeric-like sequences (ITSs) in instability of the genome has also been reported in previous studies in vertebrates. In order to describe the unstable chromosomal regions of R. norvegicus, the distribution of breakpoints induced by X-irradiation and ITSs in its karyotype were analysed in this work. For the X-irradiation analysis, 52 foetuses (from 14 irradiated rats) were studied, 4803 metaphases were analysed, and a total of 456 breakpoints induced by X-rays were detected, located in 114 chromosomal bands, with 25 of them significantly affected by X-irradiation (hot spots). For the analysis of ITSs, three foetuses (from three rats) were studied, 305 metaphases were analysed and 121 ITSs were detected, widely distributed in the karyotype of this species. Seventy-six percent of all hot spots analysed in this study were co-localised with ITSs.

Changes in karyotype in domestic animals discovered on the farms in Vojvodina and their influence on reproduction

Directory of Open Access Journals (Sweden)

Košarčić Slavica

2006-01-01

Full Text Available New directions in animal husbandry demand raising of animal kinds that are adjusted to intensive way of breeding. In order to accomplish these demands, beside known methods in selection, Cytogenetic control of existing genotypes is needed that has been carried through ten year examination on pig, cattle and stud farms in Vojvodina. Chromosome aberration of numeric polyploidy and aneuploidy but also structural translocation, deletion, duplication, inversion, ring, break and other segregations were discovered. Numeric and structural changes on animal karyotype influenced on reproduction disturbance, phenotype expression, as well as selection program and stability of genofond. Different aspects of reproductive disturbance were noted like for example: small litter, embryo mortality, frequent repeated breeding, abortion, stillbirth and mummified embryo, offspring with anomalities, different kinds of sterility, Analyses of the results obtained from monitoring the herd book and making genealogy show on existence of chromosomepathy on our farms. The aim of this work is to inform scientists and experts with the fact that these changes are spreading, especially through among the breeding animals. Therefore genetic control and timely exclusion of chromosome aberration is necessary.

Mitotic karyotype of the tropical freshwater crayfish Procambarus (Austrocambarus llamasi (Decapoda: Cambaridae

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Jeane R Indy

2010-06-01

Full Text Available In Mexico, the biology of Procambarus has been more studied than the biology of other Cambarids because of its diversity and potential use in aquaculture. We determined the karyotype of the Mexican tropical freshwater crayfish Procambarus (Austrocambarus llamasi from 189 metaphase spreads from gill tissues of 17 adults. They had 98-120 chromosomes (mode 2n=120 chromosomes. There are 60 pairs of monoarm, telocentric chromosomes. Sex chromosomes were not detected and we propose that the P. llamasi karyotype can be used to distinguish this species from other Mexican crayfish. Additionally, we suggest using karyological data in aquaculture and conservation biology. Rev. Biol. Trop. 58 (2: 655-662. Epub 2010 June 02.El género Procambarus ha recibido mayor atención en los estudios de los principios fundamentales de su biología debido a su diversidad en el territorio mexicano y potencial uso en acuicultura. El cariotipo típico del acocil tropical mexicano Procambarus (Austrocambarus llamasi, se estudió mediante 189 dispersiones cromosómicas en metafase del tejido branquial de 17 adultos tratados con la técnica citológica de inmersión. Encontramos un amplio número de cromosomas, que variaron entre 98-120 elementos cromosómicos, con número modal diploide de 2n=120 elementos cromosómicos. El cariotipo del acocil tropical esta constituido por 60 pares de cromosomas monorrámeos, todos los centrómero están en la región telocéntrica de los cromosomas. En las metafases mitóticas de hembras y machos no fueron identificados cromosomas sexuales. Sugerimos considerar la estructura cromosómica del cariotipo como una herramienta citotaxonómica así como el empleo de datos cariológicos para propósitos de acuicultura y conservación del acocil tropical.

Karyotype rearrangements and telomere analysis in Myzus persicae (Hemiptera, Aphididae) strains collected on Lavandula sp. plants

Science.gov (United States)

Mandrioli, Mauro; Zanasi, Federica; Manicardi, Gian Carlo

2014-01-01

Abstract Karyotype analysis of nine strains of the peach-potato aphid Myzus persicae (Sulzer, 1776), collected on Lavandula sp. plants, evidenced showed that five of them had a standard 2n = 12 karyotype, one possessed a fragmentation of the X chromosome occurring at the telomere opposite to the NOR-bearing one and three strains had a chromosome number 2n = 11 due to a non-reciprocal translocation of an autosome A3 onto an A1 chromosome. Interestingly, the terminal portion of the autosome A1 involved in the translocation was the same in all the three strains, as evidenced by FISH with the histone cluster as a probe. The study of telomeres in the Myzus persicae strain with the X fission evidenced that telomerase synthesised de novo telomeres at the breakpoints resulting in the stabilization of the chromosomal fragments. Lastly, despite the presence of a conserved telomerase, aphid genome is devoid of genes coding for shelterin, a complex of proteins involved in telomere functioning frequently reported as conserved in eukaryotes. The absence of this complex, also confirmed in the genome of other arthropods, suggests that the shift in the sequence of the telomeric repeats has been accompanied by other changes in the telomere components in arthropods in respect to other metazoans. PMID:25610541

Karyotype Reorganization in the Hokou Gecko (Gekko hokouensis, Gekkonidae: The Process of Microchromosome Disappearance in Gekkota.

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Kornsorn Srikulnath

Full Text Available The Hokou gecko (Gekko hokouensis: Gekkonidae, Gekkota, Squamata has the chromosome number 2n = 38, with no microchromosomes. For molecular cytogenetic characterization of the gekkotan karyotype, we constructed a cytogenetic map for G. hokouensis, which retains the ancestral karyotype of Gekkota, with 86 functional genes, and compared it with cytogenetic maps for four Toxicofera species that have many microchromosomes (Elaphe quadrivirgata, Varanus salvator macromaculatus, Leiolepis reevesii rubritaeniata, and Anolis carolinensis and that for a lacertid species (Lacerta agilis with only one pair of autosomal microchromosomes. Ten pairs of G. hokouensis chromosomes [GHO1, 2, 3, Z(4, 6, 7, 8, 13, 14, and 15] showed highly conserved linkage homology with macrochromosomes and/or macrochromosome arms of the four Toxicofera species and corresponded to eight L. agilis macrochromosomes (LAG. However, GHO5, GHO9, GHO10, GHO11, and LAG6 were composed of chromosome segments that have a homology with Toxicofera microchromosomes, and no homology was found in the chromosomes between G. hokouensis and L. agilis. These results suggest that repeated fusions of microchromosomes may have occurred independently in each lineage of Gekkota and Lacertidae, leading to the disappearance of microchromosomes and appearance of small-sized macrochromosomes.

Is the diversification of Mediterranean Basin plant lineages coupled to karyotypic changes?

Science.gov (United States)

Escudero, M; Balao, F; Martín-Bravo, S; Valente, L; Valcárcel, V

2018-01-01

The Mediterranean Basin region, home to 25,000 plant species, is included in the worldwide list of hotspots of biodiversity. Despite the indisputably important role of chromosome transitions in plant evolution and diversification, no reference study to date has dealt with the possible relationship between chromosome evolution and lineage diversification in the Mediterranean Basin. Here we study patterns of diversification, patterns of chromosome number transition (either polyploidy or dysploidy) and the relationship between the two for 14 Mediterranean Basin angiosperm lineages using previously published phylogenies. We found a mixed pattern, with half of the lineages displaying a change in chromosome transition rates after the onset of the Mediterranean climate (six increases, one decrease) and the other half (six) experiencing constant rates of chromosome transitions through time. We have also found a heterogeneous pattern regarding diversification rates, with lineages exhibiting moderate (five phylogenies) or low (six) initial diversification rates that either increased (six) or declined (five) through time. Our results reveal no clear link between diversification rates and chromosome number transition rates. By promoting the formation of new habitats and driving the extinction of many species, the Mediterranean onset and the posterior Quaternary climatic oscillations could have been key for the establishment of new chromosomal variants in some plant phylogenies but not in others. While the biodiversity of the Mediterranean Basin may be partly influenced by the chromosomal diversity of its lineages, this study concludes that lineage diversification in the region is largely decoupled from karyotypic evolution. © 2017 German Botanical Society and The Royal Botanical Society of the Netherlands.

Karyotyping and in situ chromosomal localization of rDNA sites in black cumin Bunium persicum (Boiss B. Fedtsch,1915 (Apiaceae

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R. K. Chahota

2011-11-01

Full Text Available The fluorescent in situ hybridization (FISH technique has been applied to somatic chromosomes in the medicinally important species, Bunium persicum, to elucidate its karyotypes. The bicolour FISH technique involving 18S-5.8S-26S and 5S ribosomal RNA genes as probes was used to assign physical localization and measurement of rDNA sites on homologous pairs of chromosomes. The two 18S-5.8S-26S rRNA gene sites were at the terminal regions of the short arms of the chromosomes 1 and 2 involving NOR region of chromosome 1. The 5S rDNA sites were found on subtelomeric region of the long arm of the chromosome number 5 and at interstitial regions of the short arm of chromosome 7. Based on direct visual analysis of chromosome length, morphology and position of FISH signals, a pioneer attempt has been made to construct metaphase karyotype in B. persicum, an endangered medicinal plant of North Western Himalayas.

Genome Size Diversity in Lilium (Liliaceae Is Correlated with Karyotype and Environmental Traits

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Yun-peng Du

2017-07-01

Full Text Available Genome size (GS diversity is of fundamental biological importance. The occurrence of giant genomes in angiosperms is restricted to just a few lineages in the analyzed genome size of plant species so far. It is still an open question whether GS diversity is shaped by neutral or natural selection. The genus Lilium, with giant genomes, is phylogenetically and horticulturally important and is distributed throughout the northern hemisphere. GS diversity in Lilium and the underlying evolutionary mechanisms are poorly understood. We performed a comprehensive study involving phylogenetically independent analysis on 71 species to explore the diversity and evolution of GS and its correlation with karyological and environmental traits within Lilium (including Nomocharis. The strong phylogenetic signal detected for GS in the genus provides evidence consistent with that the repetitive DNA may be the primary contributors to the GS diversity, while the significant positive relationships detected between GS and the haploid chromosome length (HCL provide insights into patterns of genome evolution. The relationships between GS and karyotypes indicate that ancestral karyotypes of Lilium are likely to have exhibited small genomes, low diversity in centromeric index (CVCI values and relatively high relative variation in chromosome length (CVCL values. Significant relationships identified between GS and annual temperature and between GS and annual precipitation suggest that adaptation to habitat strongly influences GS diversity. We conclude that GS in Lilium is shaped by both neutral (genetic drift and adaptive evolution. These findings will have important consequences for understanding the evolution of giant plant genomes, and exploring the role of repetitive DNA fraction and chromosome changes in a plant group with large genomes and conservation of chromosome number.

Differentiation of sex chromosomes and karyotypic evolution in the eye-lid geckos (Squamata: Gekkota: Eublepharidae), a group with different modes of sex determination.

Science.gov (United States)

Pokorná, Martina; Rábová, Marie; Ráb, Petr; Ferguson-Smith, Malcolm A; Rens, Willem; Kratochvíl, Lukáš

2010-11-01

The eyelid geckos (family Eublepharidae) include both species with temperature-dependent sex determination and species where genotypic sex determination (GSD) was suggested based on the observation of equal sex ratios at several incubation temperatures. In this study, we present data on karyotypes and chromosomal characteristics in 12 species (Aeluroscalabotes felinus, Coleonyx brevis, Coleonyx elegans, Coleonyx variegatus, Eublepharis angramainyu, Eublepharis macularius, Goniurosaurus araneus, Goniurosaurus lichtenfelderi, Goniurosaurus luii, Goniurosaurus splendens, Hemitheconyx caudicinctus, and Holodactylus africanus) covering all genera of the family, and search for the presence of heteromorphic sex chromosomes. Phylogenetic mapping of chromosomal changes showed a long evolutionary stasis of karyotypes with all acrocentric chromosomes followed by numerous chromosomal rearrangements in the ancestors of two lineages. We have found heteromorphic sex chromosomes in only one species, which suggests that sex chromosomes in most GSD species of the eyelid geckos are not morphologically differentiated. The sexual difference in karyotype was detected only in C. elegans which has a multiple sex chromosome system (X(1)X(2)Y). The metacentric Y chromosome evolved most likely via centric fusion of two acrocentric chromosomes involving loss of interstitial telomeric sequences. We conclude that the eyelid geckos exhibit diversity in sex determination ranging from the absence of any sexual differences to heteromorphic sex chromosomes, which makes them an interesting system for exploring the evolutionary origin of sexually dimorphic genomes.

Larva of Glyptotendipes (Glyptotendipes) glaucus (Meigen 1818) (Chironomidae, Diptera)-morphology by Scanning Electron Microscope (SEM), karyotype, and biology in laboratory conditions.

Science.gov (United States)

Kownacki, Andrzej; Woznicka, Olga; Szarek-Gwiazda, Ewa; Michailova, Paraskeva

2016-09-21

Larvae belonging to the family Chironomidae are difficult to identify. The aim of the present study was to describe the larval morphology of G. (G.) glaucus with the aid of a Scanning Electron Microscope (SEM), the karyotype and biology based on materials obtained from laboratory culture. Describing the morphology of larvae, special attention was paid to rarely or never described structures like the maxilla (lacinia and maxillary palp), the long plate situated below the ventromental plate, and plate X situated between lacinia and mentum. The use of SEM allowed also to obtain better images of labrum and ventromental plate. Morphological features of this species have been supplemented by karyotype and biology of larvae in laboratory conditions. Under controlled experimental conditions we found non-synchronous development of G. (G.) glaucus larvae hatched from one egg mass reflected in different lengths of larvae and emerged imagoes.

Dynamic karyotype evolution and unique sex determination systems in Leptidea wood white butterflies

Czech Academy of Sciences Publication Activity Database

Šíchová, Jindra; Voleníková, A.; Dincă, A.; Nguyen, Petr; Vila, R.; Sahara, K.; Marec, František

2015-01-01

Roč. 15, č. 1 (2015), article number 89 ISSN 1471-2148 R&D Projects: GA AV ČR IAA600960925; GA ČR(CZ) GP14-35819P; GA ČR(CZ) GA14-22765S Grant - others:GA JU(CZ) 063/2012/P; Spanish Ministerio de Economia y Competitividad(ES) CGL2013-48277-P; GA JU(CZ) 052/2013/P; 7th European Community Framework Programme(CZ) 625997; JSPS(JP) 23380030 Institutional support: RVO:60077344 Keywords : Lepidoptera * wood white butteflies * karyotype variability Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.406, year: 2015 http://www.biomedcentral.com/content/pdf/s12862-015-0375-4.pdf

Chromosome Mapping of Repetitive Sequences in Rachycentron canadum (Perciformes: Rachycentridae: Implications for Karyotypic Evolution and Perspectives for Biotechnological Uses

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Uedson Pereira Jacobina

2011-01-01

Full Text Available The cobia, Rachycentron canadum, a species of marine fish, has been increasingly used in aquaculture worldwide. It is the only member of the family Rachycentridae (Perciformes showing wide geographic distribution and phylogenetic patterns still not fully understood. In this study, the species was cytogenetically analyzed by different methodologies, including Ag-NOR and chromomycin A3 (CMA3/DAPI staining, C-banding, early replication banding (RGB, and in situ fluorescent hybridization with probes for 18S and 5S ribosomal genes and for telomeric sequences (TTAGGGn. The results obtained allow a detailed chromosomal characterization of the Atlantic population. The chromosome diversification found in the karyotype of the cobia is apparently related to pericentric inversions, the main mechanism associated to the karyotypic evolution of Perciformes. The differential heterochromatin replication patterns found were in part associated to functional genes. Despite maintaining conservative chromosomal characteristics in relation to the basal pattern established for Perciformes, some chromosome pairs in the analyzed population exhibit markers that may be important for cytotaxonomic, population, and biodiversity studies as well as for monitoring the species in question.

[Karyotypic comparison of five species of Lutzomyia (diptera: psychodidae) of the series townsendi and the verrucarum group in Colombia].

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Escovar, Jesús; Ferro, Cristina; Cárdenas, Estrella; Bello, Felio

2002-12-01

Cytogenetic characteristics were established for five native species of phlebotomine sand flies (Lutzomyia, series townsendi, verrucarum group): Lutzomyia longiflocosa, Lutzomyia townsendi, Lutzomyia spinicrassa, Lutzomyia torvida and Lutzomyia youngi. Karyotypes and chromosomal morphometry were compared. Using the squash technique, brain tissues from late 4th instar larvae provided the necessary mitotic chromosomes. Chromosomal measurements were made on the following chromosomal characteristics: short arm, long arm, arm ratio, total length, relative length, centromeric index and relative length average of chromosomes. Chromosomes were classified according to their morphometry and position of the centromere. The taxonomic distance was calculated, and the relationships among the species displayed in a phenogram. All five species possessed four pairs of chromosomes as diploid number (2N = 8). None of the karyotypes indicated presence of heteromorphic chromosomes. Statistical analysis of the morphometric data showed highly significant differences among the chromosomes pairs of the five species. However, the total length of the genome was very similar, with the exception of L. youngi. In conclusion, these closely related species were distinguishable at cytological level.

Recidivous offence in sadistic homosexual pedophile with karyotype 48, XXXY after testicular pulpectomy. A case report.

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Lachman, M; Brzek, A; Mellan, J; Hampl, R; Starka, L; Motlik, K

1991-01-01

The case of recidivous sexual offender with genetically caused mental retardation and primary hypogonadism (Klinefelter's syndrome with karyotype 48, XXXY) is described. He was examined after sadistic abuse of a boy aged 13 that he had committed 19 years after performed testicular pulpectomy. Plasmatic level of testosterone was found 4x higher than mean level in men after orchidectomy. Histological examination of residual scrotal tissues proved that the source of androgens were hyperplastic nodules of extratesticular Leydig cells.

Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.

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Balci, Sevim; Tümer, Celal; Karaca, Ciğdem; Bartsch, Oliver

2011-05-01

We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is the first report of a mother with a supernumerary ring (18) and a son with ring (18) mosaicism. Interestingly, the son showed a true mosaicism (mixoploidy) of ring (18) and normal cells. The mother's 46,XX cells could be easily explained by mitotic instability and ring loss during cell division. However, the coexistence of ring (18) and normal cells in the son is unusual. Possibly, during early postzygotic divisions of a 47,XY,+r(18) zygote, two (possibly subsequent) genetic events could have occurred, one when one normal chromosome 18 was lost (resulting in a cell line with ring 18), and one when the ring 18 was lost (resulting in a cell line without ring, "escape to normal"). Alternatively, the zygote of the son could have been 46,XY,r(18), and postzygotic loss of the ring 18 could have resulted in monosomy 18 cells followed by duplication of chromosome 18 in these cells (a rare mechanism for cell survival previously described as "compensatory" isodisomy). Copyright © 2011 Wiley-Liss, Inc.

A comparison of the effect of 5-bromodeoxyuridine substitution on 33258 Hoechst- and DAPI-fluorescence of isolated chromosomes by bivariate flow karyotyping

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Buys, C. H.; Mesa, J.; van der Veen, A. Y.; Aten, J. A.

1986-01-01

Application of the fluorescent DNA-intercalator propidium iodide for stabilization of the mitotic chromosome structure during isolation of chromosomes from V79 Chinese hamster cells and subsequent staining with the fluorochromes 33258 Hoechst or DAPI allowed bivariate flow karyotyping of isolated

Women’s Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy

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Angelique J. A. Kooper

2013-01-01

Full Text Available Objectives. Pregnant women, referred because of an increased risk of fetal Down syndrome, who underwent an invasive prenatal procedure were offered a choice between karyotyping and rapid targeted testing. This study aims to assess women’s attitudes and experiences towards what option to choose. Methods. A retrospective multicentre survey (2008–2010 was conducted among 1370 women. General questions were asked about decision making issues, followed by personal questions about their experiences in choice making, test preference, influence of others, and possible regrets. Results. In total, 90.1% of the respondents (N=825 indicated that pregnant women are able to choose, although 33.1% stated that the choice can best be made by a professional. 18.4% indicated that making a choice places a burden on women. In 96.4%, respondents preferred to have the option to choose again in case of a next pregnancy, whereas 2.7% preferred the choice to be made by a professional. Regret was indicated by 1.2%. Decision making was influenced by others in 64.9%. A slightly higher preference for karyotyping was indicated by 52.7% of the respondents. Conclusions. Positive attitudes and experiences were expressed towards the option to choose. Respondents took decisions freely, although sometimes influenced by a partner or a professional, to follow their individual perspectives.

Evidence of Chromosomal Instability in Prostate Cancer Determined by Spectral Karyotyping (SKY and Interphase FISH Analysis

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Ben Beheshti

2001-01-01

Full Text Available The way in which cytogenetic aberrations develop in prostate cancer (Cap is poorly understood. Spectral karyotype (SKY analysis of Cap cell lines has shown that they have unstable karyotypes and also have features associated with chromosomal instability (CIN. To accurately determine the incidence of de novo structural and numerical aberrations in vitro in Cap, we performed SKY analysis of three independent clones derived from one representative cell line, DU145. The frequent generation of new chromosomal rearrangements and a wide variation in the number of structural aberrations within two to five passages suggested that this cell line exhibited some of the features associated with a CIN phenotype. To study numerical cell-to-cell variation, chromosome 8 aneusomy was assessed in the LNCaP, DU145, and PC-3 cell lines and a patient cohort of 15 Cap primary tumors by interphase fluorescence in situ hybridization (FISH. This analysis showed that a high frequency of numerical alteration affecting chromosome 8 was present in both in vitro and in Cap tissues. In comparison to normal controls, the patient cohort had a statistically significant (P<.05, greater frequency of cells with one and three centromere 8 copies. These data suggest that a CIN-like process may be contributing towards the generation of de novo numerical and structural chromosome abnormalities in Cap.

Molecular structures of centromeric heterochromatin and karyotypic evolution in the Siamese crocodile (Crocodylus siamensis) (Crocodylidae, Crocodylia).

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Kawagoshi, Taiki; Nishida, Chizuko; Ota, Hidetoshi; Kumazawa, Yoshinori; Endo, Hideki; Matsuda, Yoichi

2008-01-01

Crocodilians have several unique karyotypic features, such as small diploid chromosome numbers (30-42) and the absence of dot-shaped microchromosomes. Of the extant crocodilian species, the Siamese crocodile (Crocodylus siamensis) has no more than 2n = 30, comprising mostly bi-armed chromosomes with large centromeric heterochromatin blocks. To investigate the molecular structures of C-heterochromatin and genomic compartmentalization in the karyotype, characterized by the disappearance of tiny microchromosomes and reduced chromosome number, we performed molecular cloning of centromeric repetitive sequences and chromosome mapping of the 18S-28S rDNA and telomeric (TTAGGG)( n ) sequences. The centromeric heterochromatin was composed mainly of two repetitive sequence families whose characteristics were quite different. Two types of GC-rich CSI-HindIII family sequences, the 305 bp CSI-HindIII-S (G+C content, 61.3%) and 424 bp CSI-HindIII-M (63.1%), were localized to the intensely PI-stained centric regions of all chromosomes, except for chromosome 2 with PI-negative heterochromatin. The 94 bp CSI-DraI (G+C content, 48.9%) was tandem-arrayed satellite DNA and localized to chromosome 2 and four pairs of small-sized chromosomes. The chromosomal size-dependent genomic compartmentalization that is supposedly unique to the Archosauromorpha was probably lost in the crocodilian lineage with the disappearance of microchromosomes followed by the homogenization of centromeric repetitive sequences between chromosomes, except for chromosome 2.

Karyotype of Ophiopogon reversus (Convallariaceae from Taiwan and the Southern Ryukyus

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Tetsuo Denda

2006-06-01

Full Text Available Karyotypes of Ophiopogon reversus (Convallariaceae collected from four localities in Taiwan and one locality on Yonaguni-jima Island in the southern Ryukyus of Japan were reported for the first time. Those of O. jaburan collected from three major islands (Amami-oshima, Tokuno-shima and Okinawa-jima of the central Ryukyus were also investigated for comparison. All plants of O. reversus and O. jaburan investigated were diploid (2n = 36 based on the basic chromosome number of x = 18. Among 36 chromosomes of O. reversus, one pair of short chromosomes with submedian centromeres had secondary constrictions at the proximal region of the long arms. Based on this character, O. reversus is cytologically distinguishable from O. jaburan, in which one pair of short metacentric chromosomes had secondary constrictions at the proximal region of the short arms.

Fluorescence in situ hybridization karyotyping reveals the presence of two distinct genomes in the taxon Aegilops tauschii

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Zhao, Laibin; Ning, Shunzong; Yi, Yingjin; Zhang, Lianquan; Yuan, Zhongwei; Wang, Jirui; Zheng, Youliang; Hao, Ming; Liu, Dengcai

2018-01-01

Background Aegilops tauschii is the donor of the bread wheat D genome. Based on spike morphology, the taxon has conventionally been subdivided into ssp. tauschii and ssp. strangulata. The present study was intended to address the poor match between this whole plant morphology-based subdivision and genetic relationships inferred from genotyping by fluorescence in situ hybridization karyotyping a set of 31 Ae. tauschii accessions. Results The distribution of sites hybridizing to the two probes ...

Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: early prenatal diagnosis at 9(+5) weeks by 3D transvaginal ultrasound and coelocentesis.

Science.gov (United States)

Tonni, Gabriele; Ventura, Alessandro; Bonasoni, Maria Paola

2009-09-01

A 27-year-old pregnant woman was diagnosed by 3D transvaginal ultrasound as carrying a fetus of 9(+5) weeks gestation affected by acrania/encephalocele (exencephaly) sequence. A 2D transvaginal ultrasound-guided aspiration of 5 mL of extra-coelomic fluid was performed under cervical block before uterine suction. Conventional cytogenetic analysis demonstrated a 92,XXXX karyotype. Transvaginal 2D ultrasound-guided coelocentesis for rapid karyotyping can be proposed to women who are near to miscarriage or in cases where a prenatal ultrasound diagnosis of congenital anomaly is performed at an early stage of development. Genetic analysis can be performed using traditional cytogenetic analysis or can be aided by fluorescence in situ hybridization (FISH). Coelocentesis may become an integral part of first trimester armamentarium and may be clinically useful in the understanding of the pathogenesis of early prenatally diagnosed congenital anomalies.

Karyotype of cryopreserved bone marrow cells

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M.L.L.F. Chauffaille

2003-07-01

Full Text Available The analysis of chromosomal abnormalities is important for the study of hematological neoplastic disorders since it facilitates classification of the disease. The ability to perform chromosome analysis of cryopreserved malignant marrow or peripheral blast cells is important for retrospective studies. In the present study, we compared the karyotype of fresh bone marrow cells (20 metaphases to that of cells stored with a simplified cryopreservation method, evaluated the effect of the use of granulocyte-macrophage colony-stimulating factor (GM-CSF as an in vitro mitotic index stimulator, and compared the cell viability and chromosome morphology of fresh and cryopreserved cells whenever possible (sufficient metaphases for analysis. Twenty-five bone marrow samples from 24 patients with hematological disorders such as acute myeloid leukemia, acute lymphoblastic leukemia, myelodysplastic syndrome, chronic myeloid leukemia, megaloblastic anemia and lymphoma (8, 3, 3, 8, 1, and 1 patients, respectively were selected at diagnosis, at relapse or during routine follow-up and one sample was obtained from a bone marrow donor after informed consent. Average cell viability before and after freezing was 98.8 and 78.5%, respectively (P < 0.05. Cytogenetic analysis was successful in 76% of fresh cell cultures, as opposed to 52% of cryopreserved samples (P < 0.05. GM-CSF had no proliferative effect before or after freezing. The morphological aspects of the chromosomes in fresh and cryopreserved cells were subjectively the same. The present study shows that cytogenetic analysis of cryopreserved bone marrow cells can be a reliable alternative when fresh cell analysis cannot be done, notwithstanding the reduced viability and lower percent of successful analysis that are associated with freezing.

Karyotype of cryopreserved bone marrow cells.

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Chauffaille, M L L F; Pinheiro, R F; Stefano, J T; Kerbauy, J

2003-07-01

The analysis of chromosomal abnormalities is important for the study of hematological neoplastic disorders since it facilitates classification of the disease. The ability to perform chromosome analysis of cryopreserved malignant marrow or peripheral blast cells is important for retrospective studies. In the present study, we compared the karyotype of fresh bone marrow cells (20 metaphases) to that of cells stored with a simplified cryopreservation method, evaluated the effect of the use of granulocyte-macrophage colony-stimulating factor (GM-CSF) as an in vitro mitotic index stimulator, and compared the cell viability and chromosome morphology of fresh and cryopreserved cells whenever possible (sufficient metaphases for analysis). Twenty-five bone marrow samples from 24 patients with hematological disorders such as acute myeloid leukemia, acute lymphoblastic leukemia, myelodysplastic syndrome, chronic myeloid leukemia, megaloblastic anemia and lymphoma (8, 3, 3, 8, 1, and 1 patients, respectively) were selected at diagnosis, at relapse or during routine follow-up and one sample was obtained from a bone marrow donor after informed consent. Average cell viability before and after freezing was 98.8 and 78.5%, respectively (P < 0.05). Cytogenetic analysis was successful in 76% of fresh cell cultures, as opposed to 52% of cryopreserved samples (P < 0.05). GM-CSF had no proliferative effect before or after freezing. The morphological aspects of the chromosomes in fresh and cryopreserved cells were subjectively the same. The present study shows that cytogenetic analysis of cryopreserved bone marrow cells can be a reliable alternative when fresh cell analysis cannot be done, notwithstanding the reduced viability and lower percent of successful analysis that are associated with freezing.

Resolution and evolution of the duck-billed platypus karyotype with an X1Y1X2Y2X3Y3X4Y4X5Y5 male sex chromosome constitution.

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Rens, Willem; Grützner, Frank; O'brien, Patricia C M; Fairclough, Helen; Graves, Jennifer A M; Ferguson-Smith, Malcolm A

2004-11-16

The platypus (2n = 52) has a complex karyotype that has been controversial over the last three decades. The presence of unpaired chromosomes and an unknown sex-determining system especially has defied attempts at conventional analysis. This article reports on the preparation of chromosome-specific probes from flow-sorted chromosomes and their application in the identification and classification of all platypus chromosomes. This work reveals that the male karyotype has 21 pairs of chromosomes and 10 unpaired chromosomes (E1-E10), which are linked by short regions of homology to form a multivalent chain in meiosis. The female karyotype differs in that five of these unpaired elements (E1, E3, E5, E7, and E9) are each present in duplicate, whereas the remaining five unpaired elements (E2, E4, E6, E8, and E10) are absent. This finding indicates that sex is determined by the alternate segregation of the chain of 10 during spermatogenesis so that equal numbers of sperm bear either one of the two groups of five elements, i.e., five X and five Y chromosomes. Chromosome painting reveals that these X and Y chromosomes contain pairing (XY shared) and differential (X- or Y-specific) segments. Y differential regions must contain male-determining genes, and X differential regions should be dosage-compensated in the female. Two models for the evolution of the sex-determining system are presented. The resolution of the longstanding debate over the platypus karyotype is an important step toward the understanding of mechanisms of sex determination, dosage compensation, and karyotype evolution.

Identification of the linkage group of the Z sex chromosomes of the sand lizard (Lacerta agilis, Lacertidae) and elucidation of karyotype evolution in lacertid lizards.

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Srikulnath, Kornsorn; Matsubara, Kazumi; Uno, Yoshinobu; Nishida, Chizuko; Olsson, Mats; Matsuda, Yoichi

2014-12-01

The sand lizard (Lacerta agilis, Lacertidae) has a chromosome number of 2n = 38, with 17 pairs of acrocentric chromosomes, one pair of microchromosomes, a large acrocentric Z chromosome, and a micro-W chromosome. To investigate the process of karyotype evolution in L. agilis, we performed chromosome banding and fluorescent in situ hybridization for gene mapping and constructed a cytogenetic map with 86 functional genes. Chromosome banding revealed that the Z chromosome is the fifth largest chromosome. The cytogenetic map revealed homology of the L. agilis Z chromosome with chicken chromosomes 6 and 9. Comparison of the L. agilis cytogenetic map with those of four Toxicofera species with many microchromosomes (Elaphe quadrivirgata, Varanus salvator macromaculatus, Leiolepis reevesii rubritaeniata, and Anolis carolinensis) showed highly conserved linkage homology of L. agilis chromosomes (LAG) 1, 2, 3, 4, 5(Z), 7, 8, 9, and 10 with macrochromosomes and/or macrochromosome segments of the four Toxicofera species. Most of the genes located on the microchromosomes of Toxicofera were localized to LAG6, small acrocentric chromosomes (LAG11-18), and a microchromosome (LAG19) in L. agilis. These results suggest that the L. agilis karyotype resulted from frequent fusions of microchromosomes, which occurred in the ancestral karyotype of Toxicofera and led to the disappearance of microchromosomes and the appearance of many small macrochromosomes.

Molecular cytogenetic analysis of monoecious hemp (Cannabis sativa L.) cultivars reveals its karyotype variations and sex chromosomes constitution.

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Razumova, Olga V; Alexandrov, Oleg S; Divashuk, Mikhail G; Sukhorada, Tatiana I; Karlov, Gennady I

2016-05-01

Hemp (Cannabis sativa L., 2n = 20) is a dioecious plant. Sex expression is controlled by an X-to-autosome balance system consisting of the heteromorphic sex chromosomes XY for males and XX for females. Genetically monoecious hemp offers several agronomic advantages compared to the dioecious cultivars that are widely used in hemp cultivation. The male or female origin of monoecious maternal plants is unknown. Additionally, the sex chromosome composition of monoecious hemp forms remains unknown. In this study, we examine the sex chromosome makeup in monoecious hemp using a cytogenetic approach. Eight monoecious and two dioecious cultivars were used. The DNA of 210 monoecious plants was used for PCR analysis with the male-associated markers MADC2 and SCAR323. All monoecious plants showed female amplification patterns. Fluorescence in situ hybridization (FISH) with the subtelomeric CS-1 probe to chromosomes plates and karyotyping revealed a lack of Y chromosome and presence of XX sex chromosomes in monoecious cultivars with the chromosome number 2n = 20. There was a high level of intra- and intercultivar karyotype variation detected. The results of this study can be used for further analysis of the genetic basis of sex expression in plants.

First cytogenetic analysis of Ichthyoelephas humeralis (Günther, 1860 by conventional and molecular methods with comments on the karyotypic evolution in Prochilodontidae

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Mauro Nirchio Tursellino

2016-11-01

Full Text Available We used conventional cytogenetic techniques (Giemsa, C-banding, Ag-NOR, and fluorescent in situ hybridization (FISH with 5S and 18S rDNA probes to investigate the karyotype and cytogenetic characteristics of Ichthyoelephas humeralis (Günther, 1860 from Ecuador. The specimens studied have a karyotype with 2n=54 biarmed chromosomes (32 M + 22 SM and C-positive heterochromatin located on the centromeric, pericentromeric, interstitial, and terminal regions of some chromosomes. The nucleolus organizer regions occurred terminally on the long arm of chromosome pair 2. FISH confirmed the presence of only one 18S rDNA cluster with nonsyntenic localization with the 5S rDNA. Cytogenetic data allow us to refute the earlier morphological hypothesis of a sister relationship between Semaprochilodus Fowler, 1941 and Ichthyoelephas Posada Arango, 1909 and support the molecular proposal that Ichthyoelephas is a sister group to the monophyletic clade containing Prochilodus Agassiz, 1829 and Semaprochilodus.

Xp21 contiguous gene syndromes: Deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints

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McCabe, E.R.B.; Towbin, J.A. (Baylor College of Medicine, Houston, TX (United States)); Engh, G. van den; Trask, B.J. (Lawrence Livermore National Lab., CA (United States))

1992-12-01

Bivariate flow karyotyping was used to estimate the deletion sizes for a series of patients with Xp21 contiguous gene syndromes. The deletion estimates were used to develop an approximate scale for the genomic map in Xp21. The bivariate flow karyotype results were compared with clinical and molecular genetic information on the extent of the patients' deletions, and these various types of data were consistent. The resulting map spans >15 Mb, from the telomeric interval between DXS41 (99-6) and DXS68 (1-4) to a position centromeric to the ornithine transcarbamylase locus. The deletion sizing was considered to be accurate to [plus minus]1 Mb. The map provides information on the relative localization of genes and markers within this region. For example, the map suggests that the adrenal hypoplasia congenita and glycerol kinase genes are physically close to each other, are within 1-2 Mb of the telomeric end of the Duchenne muscular dystrophy (DMD) gene, and are nearer to the DMD locus than to the more distal marker DXS28 (C7). Information of this type is useful in developing genomic strategies for positional cloning in Xp21. These investigations demonstrate that the DNA from patients with Xp21 contiguous gene syndromes can be valuable reagents, not only for ordering loci and markers but also for providing an approximate scale to the map of the Xp21 region surrounding DMD. 44 refs., 3 figs.

Karyotype, chromosomal characteristics of multiple rDNA clusters and intragenomic variability of ribosomal ITS2 in Caryophyllaeides fennica (Cestoda)

Czech Academy of Sciences Publication Activity Database

Orosová, Martina; Kraľová-Hromadová, I.; Bazsalovicsová, E.; Špakulová, M.

2010-01-01

Roč. 59, č. 3 (2010), s. 351-357 ISSN 1383-5769 R&D Projects: GA ČR GA524/08/0885; GA MŠk LC522 Institutional research plan: CEZ:AV0Z60220518 Keywords : Tapeworm cytogenetic * Karyotype * Heterochromatin * Fluorescent in situ hybridization * Nucleolar organizer region * Divergent ITS copies Subject RIV: GJ - Animal Vermins ; Diseases, Veterinary Medicine Impact factor: 2.259, year: 2010

Asexual Reproduction Does Not Apparently Increase the Rate of Chromosomal Evolution: Karyotype Stability in Diploid and Triploid Clonal Hybrid Fish (Cobitis, Cypriniformes, Teleostei).

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Majtánová, Zuzana; Choleva, Lukáš; Symonová, Radka; Ráb, Petr; Kotusz, Jan; Pekárik, Ladislav; Janko, Karel

2016-01-01

Interspecific hybridization, polyploidization and transitions from sexuality to asexuality considerably affect organismal genomes. Especially the last mentioned process has been assumed to play a significant role in the initiation of chromosomal rearrangements, causing increased rates of karyotype evolution. We used cytogenetic analysis and molecular dating of cladogenetic events to compare the rate of changes of chromosome morphology and karyotype in asexually and sexually reproducing counterparts in European spined loach fish (Cobitis). We studied metaphases of three sexually reproducing species and their diploid and polyploid hybrid clones of different age of origin. The material includes artificial F1 hybrid strains, representatives of lineage originated in Holocene epoch, and also individuals of an oldest known age to date (roughly 0.37 MYA). Thereafter we applied GISH technique as a marker to differentiate parental chromosomal sets in hybrids. Although the sexual species accumulated remarkable chromosomal rearrangements after their speciation, we observed no differences in chromosome numbers and/or morphology among karyotypes of asexual hybrids. These hybrids possess chromosome sets originating from respective parental species with no cytogenetically detectable recombinations, suggesting their integrity even in a long term. The switch to asexual reproduction thus did not provoke any significant acceleration of the rate of chromosomal evolution in Cobitis. Asexual animals described in other case studies reproduce ameiotically, while Cobitis hybrids described here produce eggs likely through modified meiosis. Therefore, our findings indicate that the effect of asexuality on the rate of chromosomal change may be context-dependent rather than universal and related to particular type of asexual reproduction.

Asexual Reproduction Does Not Apparently Increase the Rate of Chromosomal Evolution: Karyotype Stability in Diploid and Triploid Clonal Hybrid Fish (Cobitis, Cypriniformes, Teleostei.

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Zuzana Majtánová

Full Text Available Interspecific hybridization, polyploidization and transitions from sexuality to asexuality considerably affect organismal genomes. Especially the last mentioned process has been assumed to play a significant role in the initiation of chromosomal rearrangements, causing increased rates of karyotype evolution. We used cytogenetic analysis and molecular dating of cladogenetic events to compare the rate of changes of chromosome morphology and karyotype in asexually and sexually reproducing counterparts in European spined loach fish (Cobitis. We studied metaphases of three sexually reproducing species and their diploid and polyploid hybrid clones of different age of origin. The material includes artificial F1 hybrid strains, representatives of lineage originated in Holocene epoch, and also individuals of an oldest known age to date (roughly 0.37 MYA. Thereafter we applied GISH technique as a marker to differentiate parental chromosomal sets in hybrids. Although the sexual species accumulated remarkable chromosomal rearrangements after their speciation, we observed no differences in chromosome numbers and/or morphology among karyotypes of asexual hybrids. These hybrids possess chromosome sets originating from respective parental species with no cytogenetically detectable recombinations, suggesting their integrity even in a long term. The switch to asexual reproduction thus did not provoke any significant acceleration of the rate of chromosomal evolution in Cobitis. Asexual animals described in other case studies reproduce ameiotically, while Cobitis hybrids described here produce eggs likely through modified meiosis. Therefore, our findings indicate that the effect of asexuality on the rate of chromosomal change may be context-dependent rather than universal and related to particular type of asexual reproduction.

Interclonal variations in the molecular karyotype of Trypanosoma cruzi: chromosome rearrangements in a single cell-derived clone of the G strain.

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Lima, Fabio Mitsuo; Souza, Renata Torres; Santori, Fábio Rinaldo; Santos, Michele Fernandes; Cortez, Danielle Rodrigues; Barros, Roberto Moraes; Cano, Maria Isabel; Valadares, Helder Magno Silva; Macedo, Andréa Mara; Mortara, Renato Arruda; da Silveira, José Franco

2013-01-01

Trypanosoma cruzi comprises a pool of populations which are genetically diverse in terms of DNA content, growth and infectivity. Inter- and intra-strain karyotype heterogeneities have been reported, suggesting that chromosomal rearrangements occurred during the evolution of this parasite. Clone D11 is a single-cell-derived clone of the T. cruzi G strain selected by the minimal dilution method and by infecting Vero cells with metacyclic trypomastigotes. Here we report that the karyotype of clone D11 differs from that of the G strain in both number and size of chromosomal bands. Large chromosomal rearrangement was observed in the chromosomes carrying the tubulin loci. However, most of the chromosome length polymorphisms were of small amplitude, and the absence of one band in clone D11 in relation to its reference position in the G strain could be correlated to the presence of a novel band migrating above or below this position. Despite the presence of chromosomal polymorphism, large syntenic groups were conserved between the isolates. The appearance of new chromosomal bands in clone D11 could be explained by chromosome fusion followed by a chromosome break or interchromosomal exchange of large DNA segments. Our results also suggest that telomeric regions are involved in this process. The variant represented by clone D11 could have been induced by the stress of the cloning procedure or could, as has been suggested for Leishmania infantum, have emerged from a multiclonal, mosaic parasite population submitted to frequent DNA amplification/deletion events, leading to a 'mosaic' structure with different individuals having differently sized versions of the same chromosomes. If this is the case, the variant represented by clone D11 would be better adapted to survive the stress induced by cloning, which includes intracellular development in the mammalian cell. Karyotype polymorphism could be part of the T. cruzi arsenal for responding to environmental pressure.

Cytotaxonomy of Eurypyga helias (Gruiformes, Eurypygidae): First Karyotypic Description and Phylogenetic Proximity with Rynochetidae

Science.gov (United States)

dos Santos, Michelly da Silva; Tagliarini, Marcella Mergulhão; O´Brien, Patricia C. M.; Ferguson-Smith, Malcolm A.; de Oliveira, Edivaldo H. C.

2015-01-01

The sunbittern (Eurypyga helias) is a South American Gruiformes, the only member of Family Eurypigidae. In most phylogenetic proposals, it is placed in a more distant position than other families of the so-called “core Gruiformes”. Different studies based on molecular, morphological and biogeographical data suggest that the Eurypigidae is closely related to the kagu (Rhynochetos jubatus), the only species in Rynochetidae, another family not included in the core Gruiformes. Here, the karyotype of the sunbittern is described for the first time, by classical and molecular cytogenetics, using whole chromosome probes derived from Gallus gallus and Leucopternis albicollis. We found a diploid number of 80, with only one pair of biarmed autosomal macrochromosomes, similar to that observed in the kagu. Chromosome painting revealed that most syntenies found in the avian putative ancestral karyotype (PAK) were conserved in the sunbittern. However, PAK1, PAK2, and PAK5 corresponded to two chromosome pairs each. Probes derived from L. albicollis confirm that fissions in PAK1 and PAK2 were centric, whereas in PAK5 the fission is interstitial. In addition, there is fusion of segments homologous to PAK2q and PAK5. From a phylogenetic point of view, comparisons of our results with two other Gruiformes belonging to family Rallidae suggest that the PAK5q fission might be a synapomorphy for Gruiformes. Fissions in PAK1 and PAK2 are found only in Eurypigidae, and might also occur in Rynochetidae, in view of the similar chromosomal morphology between the sunbittern and the kagu. This suggests a close phylogenetic relationship between Eurypigidae and Rynochetidae, whose common ancestor was separated by the Gondwana vicariancy in South America and New Caledonia, respectively. PMID:26624624

The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.

Science.gov (United States)

Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej

2015-07-01

Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.

The prognostic value of monosomal karyotype (MK) in higher-risk patients with myelodysplastic syndromes treated with 5-Azacitidine. A retrospective analysis of the Hellenic (Greek) MDS Study Group.

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Papageorgiou, Sotirios G; Vasilatou, Diamantina; Kontos, Christos K; Kotsianidis, Ioannis; Symeonidis, Argiris; Galanopoulos, Athanasios G; Hatzimichael, Eleftheria; Megalakaki, Aekaterini; Poulakidas, Elias; Diamantopoulos, Panagiotis; Vassilakopoulos, Theodoros; Zikos, Panagiotis; Papadaki, Helen; Mparmparousi, Despoina; Bouronikou, Eleni; Panayiotidis, Panayiotis; Viniou, Nora-Athina; Pappa, Vassiliki

2018-04-16

In this study, we investigated the incidence and prognostic impact of monosomal karyotype (MK) in 405 higher-risk MDS patients treated with 5-AZA. The MK was present in 66 out of 405 (16.3%) patients, most of whom had complex karyotype (CK). MK was strongly associated with CK and the cytogenetic risk defined according to IPSS-R, as well as with high-risk disease, according to IPSS (P=0.029), IPSS-R (PMDS treated with 5-AZA. Furthermore, we showed that in MDS with high or very-high IPSS-R risk score, MK can further distinguish patients with worse outcome. This article is protected by copyright. All rights reserved. © 2018 Wiley Periodicals, Inc.

Differentiation of sex chromosomes and karyotypic evolution in the eye-lid geckos (Squamata: Gekkota: Eublepharidae), a group with different modes of sex determination

Czech Academy of Sciences Publication Activity Database

Pokorná, M.; Rábová, Marie; Ráb, Petr; Kratochvíl, L.

2010-01-01

Roč. 18, č. 6 (2010), s. 748-748 ISSN 0967-3849. [19th International Colloquium on animal cytogenetics and gene mapping. 06.06.-09.06.2010, Krakow] Institutional research plan: CEZ:AV0Z50450515 Keywords : sex chromosomes * karyotypic evolution * eye-lid geckos Subject RIV: EB - Genetics ; Molecular Biology

Karyotype and C-banding analyses of haploid male chromosomes ...

African Journals Online (AJOL)

Prior to the swarming season, drone-brood cells were added adjoining to the lower rows of the worker-brood cells. Testes from young larvae were removed, fixed in acetic acid methanol (1:3), and stored at -20°C. The slides pretreatment were made by usual air dry method. C-banding and staining was carried out by barium ...

Fissions, fusions, and translocations shaped the karyotype and multiple sex chromosome constitution of the northeast-Asian wood white butterfly, Leptidea amurensis

Czech Academy of Sciences Publication Activity Database

Šíchová, Jindra; Ohno, M.; Dincă, V.; Watanabe, M.; Sahara, K.; Marec, František

2016-01-01

Roč. 118, č. 3 (2016), s. 457-471 ISSN 0024-4066 R&D Projects: GA ČR(CZ) GA14-22765S Grant - others:GA JU(CZ) 052/2013/P Institutional support: RVO:60077344 Keywords : karyotype evolution * meiotic pairing * multiple sex chromosomes Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.288, year: 2016 http://onlinelibrary.wiley.com/doi/10.1111/bij.12756/full

Coupled biochemical genetic and karyomorphological analyses for ...

African Journals Online (AJOL)

S. esocinus showed five bands, S. curvifrons five, S. niger seven, S. labiatus and S. plagiostomus each showed six bands; they also showed species characteristic bands. Karyotypic study of these was carried out. The diploid chromosome numbers recorded were 98 in S. niger (24 m + 32 sm + 22 st + 20 t), 98 in S. esocinus ...

Classical and molecular cytogenetic characterization of Agonostomus monticola, a primitive species of Mugilidae (Mugiliformes).

Science.gov (United States)

Nirchio, Mauro; Oliveira, Claudio; Ferreira, Irani A; Martins, Cesar; Rossi, Anna Rita; Sola, Luciana

2009-01-01

This study reports the first description of the karyotype of Agonostomus monticola, a species belonging to a genus which is considered to be the most primitive among living mugilid fish. Specimens from Panama and Venezuela were cytogenetically analysed by conventional chromosome banding (Ag and base-specific-fluorochrome staining, C-banding) and by fluorescent in situ hybridization (FISH). Agonostomus monticola showed a chromosome complement of 2n = 48, composed of 23 acrocentric and one subtelocentric chromosome pairs and a pericentromeric distribution of the C-positive heterochromatin in all chromosomes. Major ribosomal genes were found to be located on the short arms of the subtelocentric chromosome pair number 24 and minor ribosomal genes in a paracentromeric position of a single medium-sized chromosome pair. All these observed cytogenetic features are similar to those previously described in four representatives of two genera, Liza and Chelon, which are considered to be among the most advanced in the family. Thus, this karyotypic form might represent the plesiomorphic condition for the mullets. This hypothesis regarding the plesiomorphic condition, if confirmed, would shed new light on the previously inferred cytotaxonomic relationships for the studied species of Mugilidae, because the karyotype with 48 acrocentric chromosomes, which has been so far regarded as primitive for the family, would have to be considered as derived.

Transformation of Sordaria macrospora to hygromycin B resistance: characterization of transformants by electrophoretic karyotyping and tetrad analysis.

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Walz, M; Kück, U

1995-12-01

The ascomycete Sordaria macrospora was transformed using different plasmid molecules containing the bacterial hygromycin B resistance gene (hph) under the control of different expression signals. The highest transformation frequency was obtained with vector pMW1. On this plasmid molecule, expression of the hph gene is directed by the upstream region of the isopenicillin N synthetase gene (pcbC) from the deuteromycete Acremonium chrysogenum. Southern analysis suggests that the vector copies are integrated as tandem repeats into the S. macrospora chromosomes and that duplicated sequences are most probably not inactivated by methylation during meiosis. Furthermore, the hygromycin B resistance (hygR) is not correlated with the number of integrated vector molecules. Electrophoretic karyotyping was used to further characterize S. macrospora transformants. Five chromosomal bands were separated by pulsed-field gel electrophoresis (PFGE) representing seven chromosomes with a total genome size of 39.5Mb. Hybridization analysis revealed ectopic integration of vector DNA into different chromosomes. In a few transformants, major rearrangements were detected. Transformants were sexually propagated to analyze the fate of the heterologous vector DNA. Although the hygR phenotype is stably maintained during mitosis, about a third of all lines tested showed loss of the resistance marker gene after meiosis. However, as was concluded from electrophoretic karyotyping, the resistant spores showed a Mendelian segregation of the integrated vector molecules in at least three consecutive generations. Our data indicate that heterologous marker genes can be used for transformation tagging, or the molecular mapping of chromosomal loci in S. macrospora.

Karyotype characteristics, larval morphology and chromosomal polymorphism peculiarities of Glyptotendipes salinus Michailova, 1983 (Diptera, Chironomidae) from Tambukan Lake, Central Caucasus

Science.gov (United States)

Karmokov, Mukhamed Kh.; Akkizov, Azamat Y.

2016-01-01

Abstract Data on the karyotype characteristics, larval morphology and features of chromosomal polymorphism of a population of Glyptotendipes salinus Michailova, 1983 (Diptera, Chironomidae) from Tambukan Lake (on the northern macroslope of the central Caucasus) are presented. It was found that diagnostic larval characters of Glyptotendipes salinus from Caucasus in general are similar to those described in previous studies, but with some significant differences. By some morphological characteristics Caucasian larvae appeared to be closer to Glyptotendipes barbipes than to ones provided for European larvae of Glyptotendipes salinus by Contreras-Lichtenberg (1999). Obtained morphological data make possible to conclude that Caucasian population of Glyptotendipes salinus can be a markedly diverged population of the species, probably even subspecies. In the Caucasian population 12 banding sequences were found: two in arms A, B, C, E, and G, and one in arms D and F. Eight of these are already known for this species, and four, salA2, salB2, salEX, and salG3, are described for the first time. Genetic distances between all the previously studied populations of Glyptotendipes salinus were measured using Nei criteria (1972). The population of the central Caucasus occupies a distinct position on the dendrogram compared with populations from Altai and Kazakhstan. All the obtained morphological and cytogenetic data can indicate the plausible relative isolation and complexity of the Caucasus from the viewpoint of microevolution. More researches are required in other parts of Caucasus and other geographically distant regions for more specific allegations. PMID:28123679

Karyotype characteristics, larval morphology and chromosomal polymorphism peculiarities of Glyptotendipes salinus Michailova, 1983 (Diptera, Chironomidae from Tambukan Lake, Central Caucasus

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Mukhamed Karmokov

2016-11-01

Full Text Available Data on the karyotype characteristics, larval morphology and features of chromosomal polymorphism of a population of Glyptotendipes salinus Michailova, 1983 (Diptera, Chironomidae from Tambukan Lake (on the northern macroslope of the central Caucasus are presented. It was found that diagnostic larval characters of G. salinus from Caucasus in general are similar to those described in previous studies, but with some significant differences. By some morphological characteristics Caucasian larvae appeared to be closer to G. barbipes than to ones provided for European larvae of G. salinus by Contreras-Lichtenberg (1999. Obtained morphological data make possible to conclude that Caucasian population of G. salinus can be a markedly diverged population of the species, probably even subspecies. In the Caucasian population 12 banding sequences were found: two in arms A, B, C, E, and G, and one in arms D and F. Eight of these are already known for this species, and four, salA2, salB2, salEX, and salG3, are described for the first time. Genetic distances between all the previously studied populations of G. salinus were measured using Nei criteria (1972. The population of the central Caucasus occupies a distinct position on the dendrogram compared with populations from Altai and Kazakhstan. All the obtained morphological and cytogenetic data can indicate the plausible relative isolation and complexity of the Caucasus from the viewpoint of microevolution. More researches are required in other parts of Caucasus and other geographically distant regions for more specific allegations.

Growth and ovarian function in girls with 48,XXXX karyotype--patient report and review of the literature.

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Rooman, Raoul P A; Van Driessche, Karen; Du Caju, Marc V L

2002-01-01

The loss of an X chromosome results in short stature and often in primary ovarian failure, but the effect of extra X chromosomes is less clear, especially in 48,XXXX women. We report a girl with a 48,XXXX karyotype with tall stature (181.8 cm), primary ovarian failure and low DHEAS levels. A review of the literature shows that, apart from an intellectual deficit, the phenotype is very heterogeneous. The few data that are available in the literature indicate that tall stature and primary ovarian failure are not essential characteristics of the 48,XXXX phenotype.

Somatic mutations of isocitrate dehydrogenases 1 and 2 are prognostic and follow-up markers in patients with acute myeloid leukaemia with normal karyotype

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Virijevic Marijana

2016-12-01

Full Text Available Mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2 genes are frequent molecular lesions in acute myeloid leukaemia with normal karyotype (AML-NK. The effects of IDH mutations on clinical features and treatment outcome in AML-NK have been widely investigated, but only a few studies monitored these mutations during follow-up.

Karyotype differentiation in 19 species of river loach fishes (Nemacheilidae, Teleostei): extensive variability associated with rDNA and heterochromatin distribution and its phylogenetic and ecological interpretation

Czech Academy of Sciences Publication Activity Database

Sember, Alexandr; Bohlen, Jörg; Šlechtová, Vendula; Altmanová, M.; Symonová, Radka; Ráb, Petr

2015-01-01

Roč. 15, č. 251 (2015) ISSN 1471-2148 R&D Projects: GA ČR GA206/08/0637 Institutional support: RVO:67985904 Keywords : fish cytotaxonomy * karyotype variability vs. 2n uniformity * FISH Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.406, year: 2015

Linkage Disequilibrium and Inversion-Typing of the Drosophila melanogaster Genome Reference Panel.

Science.gov (United States)

Houle, David; Márquez, Eladio J

2015-06-10

We calculated the linkage disequilibrium between all pairs of variants in the Drosophila Genome Reference Panel with minor allele count ≥5. We used r(2) ≥ 0.5 as the cutoff for a highly correlated SNP. We make available the list of all highly correlated SNPs for use in association studies. Seventy-six percent of variant SNPs are highly correlated with at least one other SNP, and the mean number of highly correlated SNPs per variant over the whole genome is 83.9. Disequilibrium between distant SNPs is also common when minor allele frequency (MAF) is low: 37% of SNPs with MAF inversions are highly correlated with somewhat larger numbers of SNPs, and these correlated SNPs are on average farther away, the probability that a SNP in such regions is highly correlated with at least one other SNP is very similar to SNPs outside inversions. Previous karyotyping of the DGRP lines has been inconsistent, and we used LD and genotype to investigate these discrepancies. When previous studies agreed on inversion karyotype, our analysis was almost perfectly concordant with those assignments. In discordant cases, and for inversion heterozygotes, our results suggest errors in two previous analyses or discordance between genotype and karyotype. Heterozygosities of chromosome arms are, in many cases, surprisingly highly correlated, suggesting strong epsistatic selection during the inbreeding and maintenance of the DGRP lines. Copyright © 2015 Houle and Márquez.

Fragment length analysis screening for detection of CEBPA mutations in intermediate-risk karyotype acute myeloid leukemia.

Science.gov (United States)

Fuster, Oscar; Barragán, Eva; Bolufer, Pascual; Such, Esperanza; Valencia, Ana; Ibáñez, Mariam; Dolz, Sandra; de Juan, Inmaculada; Jiménez, Antonio; Gómez, Maria Teresa; Buño, Ismael; Martínez, Joaquín; Cervera, José; Montesinos, Pau; Moscardó, Federico; Sanz, Miguel Ángel

2012-01-01

During last years, molecular markers have been increased as prognostic factors routinely screened in acute myeloid leukemia (AML). Recently, an increasing interest has been reported in introducing to clinical practice screening for mutations in the CCAAT/enhancer-binding protein α (CEBPA) gene in AML, as it seems to be a good prognostic factor. However, there is no reliable established method for assessing CEBPA mutations during the diagnostic work-up of AMLs. We describe here a straightforward and reliable fragment analysis method based in PCR capillary electrophoresis (PCR-CE) for screening of CEBPA mutations; moreover, we present the results obtained in 151 intermediate-risk karyotype AML patients (aged 16-80 years). The method gave a specificity of 100% and sensitivity of 93% with a lower detection limit of 1-5% for CEBPA mutations. The series found 19 mutations and four polymorphisms in 12 patients, seven of whom (58%) presented two mutations. The overall frequency of CEBPA mutations in AML was 8% (n = 12). CEBPA mutations showed no coincidence with FLT3-ITD or NPM1 mutations. CEBPA mutation predicted better disease-free survival in the group of patients without FLT3-ITD, NPM, or both genes mutated (HR 3.6, IC 95%; 1.0-13.2, p = 0.05) and better overall survival in patients younger than 65 of this group without molecular markers (HR 4.0, IC 95%; 1.0-17.4, p = 0.05). In conclusion, the fragment analysis method based in PCR-CE is a rapid, specific, and sensitive method for CEBPA mutation screening and our results confirm that CEBPA mutations can identify a subgroup of patients with favorable prognosis in AML with intermediate-risk karyotype.

Karyotype with 210 chromosomes in guaraná (Paullinia cupana 'Sorbilis').

Science.gov (United States)

de Freitas, Danival Vieira; Carvalho, Carlos Roberto; Filho, Firmino José do Nascimento; Astolfi-Filho, Spartaco

2007-05-01

The genus Paullinia includes the economically important P. cupana, known as guaraná in Brazil and more recently in the world market. Native Americans of the Maué and Andirá tribes cultivated P. cupana 'Sorbilis' in central Amazon, and the Barés cultivated the 'Typica' variety in the upper Negro River (Brazil). Cytological studies in the Sapindaceae family have concentrated on the diversity in number (from 2n = 14 to 96) and size of the chromosomes. In Paullinia, seven species have been karyotyped and all show 2n = 24. Meristem maceration, cellular dissociation and air-drying techniques were used for cytogenetic preparations and DNA content was determined by flow cytometry. Chromosome characterization and DNA content of Paullinia cupana Kunth 'Sorbilis' (Mart.) Ducke (Sapindaceae) were studied. The high chromosome number (2n = 210) fall into two cytomorphological groups: (a) a metacentric and submetacentric group showing 25 sets of three pairs of chromosomes (2-76); (b) a group containing only acrocentric showing 12 sets of two pairs of chromosomes (82-105), a homologous submetacentric pair (1) and an acrocentric pair (81). Mean nuclear DNA content of guaraná was 2C = 22.8 pg. A karyogram was set up showing a high chromosome number complement.

Análise do cariótipo de Apuleia leiocarpa (Vog. Macbr. Analysis of Apuleia leiocarpa (Vog. Macbr. karyotype

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Neiva Maria Frizon Auler

1999-03-01

Full Text Available Estudos citogenéticos da Apuleia leiocarpa foram realizados com o objetivo de determinar e montar o cariótipo da espécie. As sementes utilizadas foram coletadas na localidade de Cerrito, município de Santa Maria - RS. A pesquisa foi conduzida no Laboratório de Citogenética Vegetal e Biotecnologia do Departamento de Biologia da Universidade federal de Santa Maria - RS, nos anos de 1996 - 1997. Em metáfases de mitose foi encontrada uma variação no número de cromossomos de 20 a 28, sugerindo ser a Apuleia leiocarpa uma leguminosa com capacidade de polissomatia. O número de cromossomos da espécie é 2n = 2x = 26, distribuídos na fórmula cariotípica 20m + 4 sm + 2 t.Cytogenetic studies of Apuleia leiocarpa were carried out in order to determine and arrange the species karyotype. Seeds were collected in Cerrito, Santa Maria - RS. The research was developed at the Laboratory of Vegetal Cytogenetics and Biotechnology of the Biology Department at the Federal University of Santa Maria - RS, during 1996 and 1997. A variation in the number of chromosomes from 20 to 28 was found in metaphases of mitosis. Such variation suggests that Apuleia leiocarpa is a leguminous with polysomy capacity. The chromosomal number of the species is 2n = 2x = 26, distributed in the karyotypic formula 20m + 4 sm + 2 t.

Age-related variability of some characters of karyotype instability in the mouse line CC57W/Mv

International Nuclear Information System (INIS)

Glazko, T.T.; Safonova, N.A.; Kovaleva, O.A.; Stolina, M.P.; Solomko, A.P.; Malyuta, S.S.; Glazko, V.I.; AN Ukrainskoj SSR, Kiev

1995-01-01

The investigations of relations between cytogenetical variability in cells of bone marrow of the mouse line CC57W/Mv and factors of age and radioactivity pollution (the specific vivarium in the 30-km Chernobyl zone) were carried out. The karyotype instability on some characters were similarly between young mice in the Chernobyl zone and old mice under control conditions. The old Chernobyl mice differentiated from old control ones by a low frequency of some cytogenetic anomalies and higher values of the mitotic index. The contribution of the intensity of cell division into observed variabilities of cytogenetic character between different mouse groups was discussed

Two-Stage Urethroplasty with Buccal Mucosa for Penoscrotal Hypospadias Reconstruction in a Male with a 46,XX Karyotype.

Science.gov (United States)

D'hulst, Pieter; Darras, Jochen; Joniau, Steven; Mattelaer, Pieter; Winne, Linsey; Ponette, Diederik

2017-09-01

We present a case regarding a 32-year old African male with penoscrotal hypospadias, left cryptorchidism and a left inguinal hernia. There were moderate masculinization characteristics. He underwent a Lichtenstein hernia repair with perioperative biopsies of the left inguinal testis and epididymis. Microscopic examination showed a Sertoli-only left testis with Leydig-cell hyperplasia and the left epididymis consisted of ovarian tissue with corpora albicantia and maturing follicles. Endocrinological evaluation showed a sex-determining region Y (SRY) negative 46,XX karyotype. We successfully performed a two-stage urethroplasty with buccal mucosa graft to reconstruct his penoscrotal hypospadias.

Molecular characterization of constitutive heterochromatin in three species of Trypoxylon (Hymenoptera, Crabronidae, Trypoxylini by CMA3/DAPI staining

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Rodolpho Menezes

2011-07-01

Full Text Available Previous cytogenetic analyses in Trypoxylon Latreille, 1796 have been basically restricted to C-banding. In the present study, base-specific CMA3 and DAPI fluorochrome staining were used to characterize the constitutive heterochromatin in three Trypoxylon species. The heterochromatin was GC-rich in all the species studied; however, in Trypoxylon nitidum F. Smith, 1856 the molecular composition of the heterochromatin was different among chromosome pairs. Conversely, the euchromatin was AT-rich in the three species. These results suggest high conservatism in the euchromatic regions as opposed to the heterochromatic regions that have a high rate of changes. In this study, we report the karyotype of Trypoxylon rugifrons F. Smith, 1873 which has the lowest chromosome number in the genus and other characteristics of the likely ancestral Trypoxylon karyotype.

A new record of Chironomus (Chironomus) acidophilus Keyl (Diptera, Chironomidae) from the Uzon volcanic caldera (Kronotsky Reserve, Kamchatka Peninsula, Russia), its karyotype, ecology and biology.

Science.gov (United States)

Orel, Oksana V; Lobkova, Ludmila E; Zhirov, Sergey V; Petrova, Ninel A

2015-07-03

Morphology, cytology, ecology and biology of Holarctic Chironomus (Chironomus) acidophilus Keyl, 1960 (Diptera, Chironomidae) was examined from material collected in the geothermal Vosmerka Lake (pH=2.0-2.5). An illustrated redescription of C. acidophilus is given on the basis of adult males reared from field-collected pupae, and of simultaneously collected larvae. Additional larvae belonging to the pseudothummi-complex were identified as C. acidophilus on the basis of their karyotype. The karyotype of C. acidophilus (2n=8) and detailed mapping of the 4 chromosome arms A, E, D and F are provided. The population of C. acidophilus from Kamchatka was found to be karyologically monomorphic. Information on distribution and ecology of C. acidophilus from Vosmerka Lake (total mineralization 1583.5 mg/l) is also given. Chironomus acidophilus is the only species of aquatic insects recorded in this lake. Lack of competition and a richness of food resources contribute to the high abundance (35161 ind./m2) and biomass (11.342 g/m2) of the larvae of C. acidophilus in Vosmerka Lake.

Repetitive DNAs highlight the role of chromosomal fusions in the karyotype evolution of Dascyllus species (Pomacentridae, Perciformes).

Science.gov (United States)

Getlekha, Nuntaporn; Molina, Wagner Franco; de Bello Cioffi, Marcelo; Yano, Cassia Fernanda; Maneechot, Nuntiya; Bertollo, Luiz Antonio Carlos; Supiwong, Weerayuth; Tanomtong, Alongklod

2016-04-01

The Dascyllus genus consists of 11 species spread over vast regions of the Indo-Pacific, showing remarkable reductions in the diploid chromosome numbers (2n). The present study analyzed the karyotypes and other chromosomal characteristics of D. trimaculatus (2n = 48; 2st + 46a; NF = 50), D. carneus (2n = 48; 2st + 46a; NF = 50) and D. aruanus (2n = 30; 18m + 2st + 10a; NF = 50) from the Thailand Gulf (Pacific Ocean) and D. melanurus (2n = 48; 2st + 46a; NF = 50) from the Andaman Sea (Indian Ocean), employing conventional cytogenetic analyses and the chromosomal mapping of repetitive DNAs, using 18S and 5S rDNA, telomeric sequences and (CA)15, (GA)15, and (CAA)10 microsatellites as probes. The C-positive heterochromatin was found in the centromeric regions of most chromosomal pairs and 18S rDNA phenotypes were single in all species. However, in D. aruanus (2n = 30), which harbors nine metacentric pairs; the 5S rDNA sites were located in the centromeric region of the shortest one. The mapping of the telomeric sequences in D. aruanus revealed the presence of interstitial telomeric sites (ITS) in the centromeric region of four metacentric pairs, with one of these pairs also displaying an additional ITS in the long arms. Distinct chromosomal markers confirmed the reduction of the 2n by chromosomal fusions, highlighting the precise characterization of these rearrangements by the cytogenetic mapping of the repetitive DNAs.

Conceptual aspects: analyses law, ethical, human, technical, social factors of development ICT, e-learning and intercultural development in different countries setting out the previous new theoretical model and preliminary findings

NARCIS (Netherlands)

Kommers, Petrus A.M.; Smyrnova-Trybulska, Eugenia; Morze, Natalia; Issa, Tomayess; Issa, Theodora

2015-01-01

This paper, prepared by an international team of authors focuses on the conceptual aspects: analyses law, ethical, human, technical, social factors of ICT development, e-learning and intercultural development in different countries, setting out the previous and new theoretical model and preliminary

A case of leucism in the burrowing owl Athene cunicularia (Aves: Strigiformes with confirmation of species identity using cytogenetic analysis

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Denise M Nogueira

2011-02-01

Full Text Available Leucism is an inherited disorder, characterized by the lack of pigments in part or all of the body, normal coloration of the eyes and, in birds, in naked parts such as the bill and legs. This kind of disorder is sometimes erroneously designated as albinism or partial albinism. In this study, we present a case of leucism in a wild owl. The studied individual presented completely white plumage, light-yellow coloration of legs and bill and normal coloration of eyes. According to morphological features, this owl is a specimen of burrowing owl, Athene cunicularia (Molina, 1782. To confirm the species identity, we used cytogenetic analyses for karyotypic determination, comparing it to the previously described one in the literature. We also studied a captive female of A. cunicularia to complement the species karyotype, which was described in the literature based only on a single male. The karyotype of the leucistic owl individual was compatible with the previously published one for A. cunicularia, confirming the bird was a male specimen. Cytogenetic analysis of the captive female showed that the W sex chromosome is metacentric and comparable to the seventh pair in size. This is the first description of a case of leucism in A. cunicularia for South America. Long-term studies are needed in the Neotropical region to evaluate survival and breeding success in leucistic birds.

Phylogenomics of African guenons.

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Moulin, Sibyle; Gerbault-Seureau, Michèle; Dutrillaux, Bernard; Richard, Florence Anne

2008-01-01

The karyotypes of 28 specimens belonging to 26 species of Cercopithecinae have been compared with each other and with human karyotype by chromosome banding and, for some of them, by Zoo-FISH (human painting probes) techniques. The study includes the first description of the karyotypes of four species and a synonym of Cercopithecus nictitans. The chromosomal homologies obtained provide us with new data on a large number of rearrangements. This allows us to code chromosomal characters to draw Cercopithecini phylogenetic trees, which are compared to phylogenetic data based on DNA sequences. Our findings show that some of the superspecies proposed by Kingdon (1997 The Kingdon Field Guide to African Mammals, Academic Press.) and Groves (2001 Primates Taxonomy, Smithsonian Institution Press) do not form homogeneous groups and that the genus Cercopithecus is paraphyletic, in agreement with previous molecular analyses. The evolution of Cercopithecini karyotypes is mainly due to non-centromeric chromosome fissions and centromeric shifts or inversions. Non-Robertsonian translocations occurred in C. hamlyni and C. neglectus. The position of chromosomal rearrangements in the phylogenetic tree leads us to propose that the Cercopithecini evolution proceeded by either repeated fission events facilitated by peculiar genomic structures or successive reticulate phases, in which heterozygous populations for few rearranged chromosomes were present, allowing the spreading of chromosomal forms in various combinations, before the speciation process.

Comparative physical mapping of 18S rDNA in the karyotypes of six leafcutter ant species of the genera Atta and Acromyrmex (Formicidae: Myrmicinae).

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Teixeira, Gisele Amaro; Barros, Luísa Antônia Campos; de Aguiar, Hilton Jeferson Alves Cardoso; das Graças Pompolo, Silvia

2017-10-01

Leafcutter ants of the Atta and Acromyrmex genera are important plagues in different cultures. Cytogenetic data on chromosome number, morphology, and chromosomal banding pattern are only available for 17 species of leafcutter ants. Molecular cytogenetic data for the detection of ribosomal genes by the FISH technique are scarce, and only 15 Neotropical ant species have been studied. This study aimed to physically map the 18S ribosomal RNA genes (rDNA) of six leafcutter ants belonging to the genera Atta and Acromyrmex using FISH. The results were compared with data on the fluorochrome CMA 3 currently available for these species. All analyzed species presented the 18S rDNA on one pair of chromosomes. In Acromyrmex subterraneus molestans and Ac. aspersus, FISH signals were observed in the terminal region of the short arm of the largest subtelocentric pair, while in Atta bisphaerica, A. laevigata, and A. sexdens, FISH signals were observed in the interstitial region of the long arm of the fourth metacentric pair. In Acromyrmex striatus, 18S rDNA was located in the interstitial region of the second metacentric pair. The karyotypic formula for Ac. aspersus was 2n = 38 (8m + 10sm + 16st + 4a), representing the first report in this species. The observed 18S rDNA regions in A. laevigata, A. sexdens, A. bisphaerica, Ac. aspersus, and Ac. subterraneus molestans corresponded to the CMA 3 + bands, while in Ac. striatus, several GC-rich bands and one pair of 18S rDNA bands were observed. No differential bands were visible using the DAPI fluorochrome. Karyotype uniformity with previously studied Atta spp. was also observed at the level of molecular cytogenetics using 18S rDNA FISH. A difference in the size of the chromosomal pair carrying the 18S rDNA gene was observed in Ac. striatus (2n = 22) and Atta spp. (2n = 22) highlighting the dissimilarity between these species. The results from the present study contribute to the description of 18S rDNA clusters

Karyotype characterization of Trigona fulviventris Guérin, 1835 (Hymenoptera, Meliponini by C banding and fluorochrome staining: report of a new chromosome number in the genus

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Domingues Alayne Magalhães Trindade

2005-01-01

Full Text Available Although many species of the genus Trigona have been taxonomically described, cytogenetic studies of these species are still rare. The aim of the present study was to obtain cytogenetic data by conventional staining, C banding and fluorochrome staining for the karyotype characterization of the species Trigona fulviventris. Cytogenetic analysis revealed that this species possesses a diploid chromosome number of 2n = 32, different from most other species of this genus studied so far. This variation was probably due to the centric fusion in a higher numbered ancestral karyotype, this fusion producing the large metacentric chromosome pair and the lower chromosome number observed in Trigona fulviventris. Heterochromatin was detected in the pericentromeric region of the first chromosome pair and in one of the arms of the remaining pairs. Base-specific fluorochrome staining with 4'-6-diamidino-2-phenylindole (DAPI showed that the heterochromatin was rich in AT base pairs (DAPI+ except for pair 13, which was chromomycin A3 (CMA3 positive indicating an excess of GC base pairs. Our data also suggests that there was variation in heterochromatin base composition.

[CpG-oligodeoxynucleotide stimulation improves the success for karyotypic analysis of chronic lymphocytic leukemia cells].

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Liu, Qiong; Xu, Wei; Qiu, Hai-rong; Wang, Rong; Yu, Hui; Fan, Lei; Miao, Kou-rong; Li, Jian-yong

2009-09-01

To explore the effect of CpG-oligodeoxynucleotides (ODN) in chromosome study of chronic lymphocytic leukemia (CLL). Blood or bone marrow cells of 70 CLL patients were cultured for 72 h with PHA, CpG-ODN and CpG-ODN combined with IL-2, respectively. Routine karyotype analysis with R banding technique and interphase fluorescence in situ hybridization (FISH) were performed. The metaphase number>or=20 was considered as successful stimulation, which in PHA, CpG-ODN and CpG-ODN combined IL-2 groups were 90.0%, 68.6% and 68.6%, respectively, and the detection rates of chromosome aberrations were 3.2%, 43.6% and 43.6%, respectively. The aberrations rates detected by interphase FISH with a panel of probes was 64.3%. CpG-ODN DSP30 can effectively raise the detection rate of chromosome aberrations in CLL patients.

Oligo-based High-resolution aCGH Analysis Enhances Routine Cytogenetic Diagnostics in Haematological Malignancies.

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Kjeldsen, Eigil

2015-01-01

The purpose of the present study was to evaluate the detection rate of genomic aberrations in haematological malignancies using oligobased array-CGH (oaCGH) analysis in combination with karyotyping and fluorescence in situ hybridization (FISH) analyses, and its feasibility in a clinical pragmatic approach. The 4x180K Cancer Cytochip array was applied in 96 patients with various haematological malignancies in a prospective setting and in 41 acute myeloid leukemia (AML) patients retrospectively. Combined use of oaCGH analysis and karyotyping improved the overall detection rate in comparison to karyotyping-alone and vice versa. In cases with normal karyotypes oaCGH analysis detected genomic aberrations in 66% (39/60) of cases. In the group of simple karyotypes oaCGH analysis extended karyotypic findings in 39% (12/31) while oaCGH analysis extended the karyotypic findings in 89% (39/44) of cases with complex karyotypes. In 7% (5/75) of cases oaCGH analysis failed in detecting the observed abnormalities by karyotyping. oaCGH analysis is a valuable asset in routine cytogenetics of haematological malignancies. Copyright© 2015, International Institute of Anticancer Research (Dr. John G. Delinasios), All rights reserved.

Karyotype analysis of a male exhibiting Meckel's diverticulum and aural atresia

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Frizzell, B.; Hicks, M.F. (David Lipscomb Univ., Nashville, TN (United States))

Patau's Syndrome is caused by inheritance of an extra chromosome 13. It is characterized primarily by severe mental retardation, cleft palate, and retarded growth. Most fetuses expressing Patau's Syndrome spontaneously abort, and those that are born usually die before one year. Both Meckel's diverticulum and aural atresia are defects found in patients with Patau's at levels higher than those in the general population. An otherwise asymptomatic male expressing only Meckel's diverticulum and aural atresia has a female sibling whose son expressed Patau's syndrome. Twenty percent of patients with Patau's show a translocation of part of chromosome 13 to another D chromosome. If a translocation were the cause of the expression of Patau's in this family, it is possible that the normal male inherited a balanced translocation and the Patau's male received an unbalanced translocation. A karyotype analysis of the non-Patau's male was done to determine if such a translocation were present.

Karyotype analysis of the Russian wheat aphid, Diuraphis noxia (Kurdjumov) (Hemiptera: Aphididae) reveals a large X chromosome with rRNA and histone gene families

Czech Academy of Sciences Publication Activity Database

Novotná, Jana; Havelka, Jan; Starý, Petr; Koutecký, P.; Vítková, Magda

2011-01-01

Roč. 139, č. 3 (2011), s. 281-289 ISSN 0016-6707 R&D Projects: GA ČR GA522/09/1940 Grant - others:AV ČR(CZ) KJB501410901; Grant Agency of the University of South Bohemia(CZ) 137/2010/P Institutional research plan: CEZ:AV0Z50070508 Keywords : Diuraphis noxia * karyotype * genome size Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.148, year: 2011

A study on karyotype of the pileated gibbon, Hylobates pileatus (Primates, Hylobatidae, by conventional staining

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Alongkoad Tanomtong

2008-07-01

Full Text Available Cytogenetics of the pileated gibbon (Hylobates pileatus at Nakhon Ratchasima Zoo, Thailand, was studied. Bloodsamples were taken from two female and two male gibbons. After lymphocyte culture, the mitotic chromosome preparationwas done by hypotonic-fixation-air-drying method and conventional Giemsa’s staining. The results show that diploid chromosomenumber was 44 (2n=2x=44, and the fundamental number (NF were 88 chromosomes in both female and male.The autosomes consist of 12 large metacentric, 6 medium metacentric, 2 medium submetacentric, 2 medium acrocentric, 12small metacentric and 8 small submetacentric chromosomes. In addition, the chromosome 15 showed clearly observablesatellite chromosomes. The X chromosome was a medium submetacentric chromosome and the Y chromosome was a tinyacrocentric chromosome. The karyotype formula for the pileated gibbon is as follows:2n (44 = Lm12+Mm6+Msm2+Ma2+Sm12+Ssm8+sex-chromosomes

Taxonomic revision of the Elephant Pupinid snail genus Pollicaria Gould, 1856 (Prosobranchia, Pupinidae

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Bangon Kongim

2013-04-01

Full Text Available The status of species currently assigned to the Southeast Asian Elephant Pupinid snail genus Pollicaria Gould, 1856 is reassessed. Shell, radular and reproductive morphology are investigated and analysed with reference to karyotype patterns previously reported and to distribution patterns among the species. Six previously described species are recognised: P. gravida (Benson, 1856, P. myersii (Haines, 1855, P. mouhoti (Pfeiffer, 1862, P. elephas (Morgan, 1885, P. crossei (Dautzenberg & d’Hamonville, 1887 and P. rochebruni (Mabille, 1887. A new subspecies, P. mouhoti monochroma ssp. n., is proposed and a dichotomous key to species is provided.

Mixed Phenotype Acute Leukemia with Two Immunophenotypically Distinct B and T Blasts Populations, Double Chromosome and Complex Karyotype: Report of an Unusual Case

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Samah A. Kohla

2015-01-01

Full Text Available Mixed phenotype acute leukemia (MPAL is considered as a rare type of leukemia with an incidence of less than 4% of all acute leukemia based on the most recent 2008 WHO classification. Common subtypes are the B/myeloid and T/myeloid; B/T and trilineage MPAL being extremely rare. We present a case of a male in his 20s, whose peripheral blood smears showed 34% blast cells and bone marrow with 70% blasts. Immunophenotyping by multiparametric flow cytometry showed two populations of blasts, the major one with B-lineage and the minor one with T-lineage. Conventional karyotyping revealed complex karyotype with the presence of double Philadelphia chromosome ( Ph + . BCR/ABL1 rearrangement was confirmed by fluorescent in situ hybridization (FISH analysis. The BCR/ABL1 ES probe on interphase cells indicated pl90 minor m-BCR/ABL fusion in 46% and a second abnormal clone with double Ph + in 16% of the cells analyzed confirmed by reverse transcription-PCR (RT-PCR. The case was diagnosed as MPAL with double Philadelphia chromosome Ph + . The patient was treated with dasatinib, four cycle hyper CVAD/methotrexate cytarabin protocol, and allogeneic transplant. He is still alive in complete hematological, cytogenetic, and molecular remission. Mixed phenotype B/T acute leukemia is an extremely rare disease, particularly those with double Philadelphia chromosomes and clinically presents challenges in diagnosis and treatment.

Karyotype Stability and Unbiased Fractionation in the Paleo-Allotetraploid Cucurbita Genomes.

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Sun, Honghe; Wu, Shan; Zhang, Guoyu; Jiao, Chen; Guo, Shaogui; Ren, Yi; Zhang, Jie; Zhang, Haiying; Gong, Guoyi; Jia, Zhangcai; Zhang, Fan; Tian, Jiaxing; Lucas, William J; Doyle, Jeff J; Li, Haizhen; Fei, Zhangjun; Xu, Yong

2017-10-09

The Cucurbita genus contains several economically important species in the Cucurbitaceae family. Here, we report high-quality genome sequences of C. maxima and C. moschata and provide evidence supporting an allotetraploidization event in Cucurbita. We are able to partition the genome into two homoeologous subgenomes based on different genetic distances to melon, cucumber, and watermelon in the Benincaseae tribe. We estimate that the two diploid progenitors successively diverged from Benincaseae around 31 and 26 million years ago (Mya), respectively, and the allotetraploidization happened at some point between 26 Mya and 3 Mya, the estimated date when C. maxima and C. moschata diverged. The subgenomes have largely maintained the chromosome structures of their diploid progenitors. Such long-term karyotype stability after polyploidization has not been commonly observed in plant polyploids. The two subgenomes have retained similar numbers of genes, and neither subgenome is globally dominant in gene expression. Allele-specific expression analysis in the C. maxima × C. moschata interspecific F 1 hybrid and their two parents indicates the predominance of trans-regulatory effects underlying expression divergence of the parents, and detects transgressive gene expression changes in the hybrid correlated with heterosis in important agronomic traits. Our study provides insights into polyploid genome evolution and valuable resources for genetic improvement of cucurbit crops. Copyright © 2017 The Author. Published by Elsevier Inc. All rights reserved.

Systematic relationships within the Microtus arvalis (Rodentia: Cricetidae) group in Iran, inferred from cytogenetic analyses

Czech Academy of Sciences Publication Activity Database

Mahmoudi, A.; Zima, Jan; Kryštufek, B.; Darvish, J.; Aliabadian, M.; Arslan, A.

2018-01-01

Roč. 64, č. 1 (2018), s. 1-8 ISSN 0939-7140 Institutional support: RVO:68081766 Keywords : chromosome C-banding * karyotype * NORs * taxonomy Subject RIV: EG - Zoology Impact factor: 0.525, year: 2016

Chromosome reshuffling in birds of prey: the karyotype of the world's largest eagle (Harpy eagle, Harpia harpyja) compared to that of the chicken (Gallus gallus).

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de Oliveira, Edivaldo H C; Habermann, Felix A; Lacerda, Oneida; Sbalqueiro, Ives J; Wienberg, Johannes; Müller, Stefan

2005-11-01

Like various other diurnal birds of prey, the world's largest eagle, the Harpy (Harpia harpyja), presents an atypical bird karyotype with 2n=58 chromosomes. There is little knowledge about the dramatic changes in the genomic reorganization of these species compared to other birds. Since recently, the chicken provides a "default map" for various birds including the first genomic DNA sequence of a bird species. Obviously, the gross division of the chicken genome into relatively gene-poor macrochromosomes and predominantly gene-rich microchromosomes has been conserved for more than 150 million years in most bird species. Here, we present classical features of the Harpy eagle karyotype but also chromosomal homologies between H. harpyja and the chicken by chromosome painting and comparison to the chicken genome map. We used two different sets of painting probes: (1) chicken chromosomes were divided into three size categories: (a) macrochromosomes 1-5 and Z, (b) medium-sized chromosomes 6-10, and (c) 19 microchromosomes; (2) combinatorially labeled chicken chromosome paints 1-6 and Z. Both probe sets were visualized on H. harpyja chromosomes by multicolor fluorescence in situ hybridization (FISH). Our data show how the organization into micro- and macrochromosomes has been lost in the Harpy eagle, seemingly without any preference or constraints.

Development and progression of karyotypic variability in melanoma K1735 following X-irradiation

International Nuclear Information System (INIS)

Wolman, S.R.; McMorrow, L.E.; Fidler, I.J.; Talmadge, J.E.

1985-01-01

Chromosomal aberrations are often assumed to be deleterious to cells. However, the authors have found that many metastases are populated by cells with chromosomal recombinants induced by radiation of the original tumor population. The tumor, K-1735-M2, was already capable of metastasis so that the recombinant chromosomes were not necessary for this property of the tumor. Stable recombinants, like other aberrant forms, could be disadvantageous or, alternatively, could confer selective advantage to some tumor cells. The authors investigated these possibilities by irradiating the parental tumor line and examining the formation and persistence of chromosomal markers in cell culture and in s.c. tumors. The karyotype of the K-1735-M2 parental tumor is composed entirely of telocentric chromosomes, and recombinant forms are relatively easy to recognize. Unstable forms of chromosome damage were lost rapidly. The frequency of stable recombinants after two weeks in culture was higher than that in tumors growing in primary inoculation sites. In contrast, secondary (spontaneous metastatic) foci showed a far greater frequency of chromosomal markers, suggesting a positive association between markers and acquisition of properties benefiting growth and metastasis

Karyotype and male pre-reductional meiosis of the sharpshooter Tapajosa rubromarginata (Hemiptera: Cicadellidae

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Graciela R de Bigliardo

2011-03-01

Full Text Available Cicadellidae in one of the best represented families in the Neotropical Region, and the tribe Proconiini comprises most of the xylem-feeding insects, including the majority of the known vectors of xylem-born phytopathogenic organisms. The cytogenetics of the Proconiini remains largely unexplored. We studied males of Tapajosa rubromarginata (Signoret collected at El Manantial (Tucumán, Argentina on native spontaneous vegetation where Sorghum halepense predominates. Conventional cytogenetic techniques were used in order to describe the karyotype and male meiosis of this sharpshooter. T. rubromarginata has a male karyological formula of 2n=21 and a sex chromosome system XO:XX (♂:♀. The chromosomes do not have a primary constriction, being holokinetic and the meiosis is pre-reductional, showing similar behavior both for autosomes and sex chromosomes during anaphase I. For this stage, chromosomes are parallel to the acromatic spindle with kinetic activities in the telomeres. They segregate reductionally in the anaphase I, and towards the equator during the second division of the meiosis. This is the first contribution to cytogenetic aspects on proconines sharpshooters, particularly on this economic relevant Auchenorrhyncha species. Rev. Biol. Trop. 59 (1: 309-314. Epub 2011 March 01.

Contrasting the Chromosomal Organization of Repetitive DNAs in Two Gryllidae Crickets with Highly Divergent Karyotypes.

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Octavio M Palacios-Gimenez

Full Text Available A large percentage of eukaryotic genomes consist of repetitive DNA that plays an important role in the organization, size and evolution. In the case of crickets, chromosomal variability has been found using classical cytogenetics, but almost no information concerning the organization of their repetitive DNAs is available. To better understand the chromosomal organization and diversification of repetitive DNAs in crickets, we studied the chromosomes of two Gryllidae species with highly divergent karyotypes, i.e., 2n(♂ = 29,X0 (Gryllus assimilis and 2n = 9, neo-X1X2Y (Eneoptera surinamensis. The analyses were performed using classical cytogenetic techniques, repetitive DNA mapping and genome-size estimation. Conserved characteristics were observed, such as the occurrence of a small number of clusters of rDNAs and U snDNAs, in contrast to the multiple clusters/dispersal of the H3 histone genes. The positions of U2 snDNA and 18S rDNA are also conserved, being intermingled within the largest autosome. The distribution and base-pair composition of the heterochromatin and repetitive DNA pools of these organisms differed, suggesting reorganization. Although the microsatellite arrays had a similar distribution pattern, being dispersed along entire chromosomes, as has been observed in some grasshopper species, a band-like pattern was also observed in the E. surinamensis chromosomes, putatively due to their amplification and clustering. In addition to these differences, the genome of E. surinamensis is approximately 2.5 times larger than that of G. assimilis, which we hypothesize is due to the amplification of repetitive DNAs. Finally, we discuss the possible involvement of repetitive DNAs in the differentiation of the neo-sex chromosomes of E. surinamensis, as has been reported in other eukaryotic groups. This study provided an opportunity to explore the evolutionary dynamics of repetitive DNAs in two non-model species and will contribute to the

Immunostimulation by cytosine-phosphate-guanine oligodeoxynucleotides in combination with IL-2 can improve the success rate of karyotype analysis in chronic lymphocytic leukaemia.

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Lin, Xiaolan; Chen, Jiadi; Huang, Huifang

2016-07-01

To assess whether immunostimulatory cytosine-phosphate-guanine oligodeoxynucleotides (CpG-ODN) combined with interleukin-2 (IL-2) improves the number of mitotic metaphases and the detection rate of chromosomal abnormalities in chronic lymphocytic leukaemia (CLL). Bone marrow specimens were collected from 36 patients with CLL. CLL cells were cultured with CpG-ODN type DSP30 plus IL-2 for 72 h, following which R-banding analysis was conducted. Conventional culture without the immunostimulant served as the control group. The incidence of genetic abnormalities was measured by fluorescence in situ hybridisation (FISH) using a panel of five specific probes: D13S25 (13q14.3), RB1 (13q14), P53 (17p13), ATM (11q22.3) and CSP12 (trisomy 12, +12). In the control group, chromosome analysis achieved a success rate of only 22.2, and 11.1% of abnormal karyotypes were detected. After immunostimulation with DSP30 plus IL-2, chromosome analysis achieved a success rate of up to 91.6, and 41.6% of abnormal karyotypes were detected. FISH analysis detected 77.7% of abnormalities. FISH combined with CpG-ODN DSP30 plus IL-2 improved the detection rate of chromosomal abnormalities in CLL to 83.3%. CpG-ODN DSP30 combined with IL-2 is effective in improving the detection rate of chromosomal abnormalities in CLL cells. This combination with FISH analysis is conducive to increasing the detection rate of genetic abnormalities in CLL.

Unbiased ascertainment of a patient with a 47,XY, +pseudic (15)t(15;15)(q13;q13) karyotype by amniocentesis

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Spector, E.; Prochazka, G.; Hamilton, S. [Univ. of Colorado School of Medicine, Denver (United States)] [and others

1994-09-01

A 47,XY,+mar male karyotype was found in all metaphases on an amniocentesis from a 36-year-old woman (G1,P0). The marker was G group size. Chromosome studies on the parents were normal. C-banding, NOR staining and FISH demonstrated that the marker was dicentric, bisatellited, derived from No. 15 and contained 2 copies of the chromosomal region flanked by the Prader-Willi/Angelman A and B probes. The final karyotype was: 47,XY,+pseudic(15)t(15;15)(q13;q13), making the fetus tetrasomic for the genes in the duplicated region. DNA marker studies for No. 15 (performed in the laboratory of Dr. David Ledbetter) revealed that the fetus had inherited on No. 15 from each parent and that the marker was derived from both maternal No. 15 chromosomes. The parents chose to continue the pregnancy. The baby was born at 38 weeks gestation, was mildly edematous and had Apgar scores of 4, 7, and 8 at 1, 5, and 10 min, respectively. The marker was confirmed to be present in placenta and the baby`s blood. Examination at 6 weeks showed appropriate growth and development. Data from published cases predict that this baby will be mentally retarded and may have seizures because he is tetrasomic for 15pter-q13, but will not have Prader-Willi or Angelman syndromes since he has biparental inheritance of his normal No. 15s. However, the published cases may represent a biased sample as most were identified in mentally retarded individuals, not by prenatal diagnosis. This infant`s development will continue to be followed closely.

Karyotype, heterochromatin distribution and meiosis of Zabrotes subfasciatus (Bohemann) (Coleoptera: Chrysomelidae, Bruchinae)

International Nuclear Information System (INIS)

Correa, Ronan X.; Santos, Igor S.; Silva, Janisete G.; Costa, Marco A.; Pompolo, Silvia G.

2008-01-01

Zabrotes subfasciatus (Boh.) has been extensively studied in its agronomic and biochemical aspects due to its importance as a damaging insect to leguminous grains during storage. The few cytogenetic studies published on this species yielded conflicting results. In this study, the karyotype was analyzed in order to accurately describe the chromosome C-banding patterns and meiosis. The brain ganglion at the pre pupa and the adult and pupal testes were analyzed. All individuals had 26 chromosomes in both brain ganglion and spermatogonic mitotic metaphases. These chromosomes were classified as follows: the 12 th pair and the Y chromosome were telocentric; the X chromosome was acrocentric; the 4 th and 5 th pairs were sub metacentric; and the remaining pairs were all metacentric. One of the members of the 5 th pair presented a secondary constriction. All chromosomes presented pericentromeric heterochromatin. The large arms of the pairs 5, 9 and X presented heterochromatin. The X chromosome showed to be heteropyknotic throughout the prophase of the fi rst meiotic division. The sub phases of prophase I were atypical and meiosis II was rarely identified. Testes of all males showed a few cells; the bivalents were rod-like shaped in metaphase I. Karyological formulae were 2n = 24 + XX in females and 2n = 24 + XYp and either n = 12 + X or n = 12 + Y in males. (author)

Clonal proliferation and karyotypic features of cells in bone marrow after irradiation

International Nuclear Information System (INIS)

Kohno, S.; Ishihara, T.

1979-01-01

Single stem cells in which chromosome abnormalities are induced by radiation may multiply to form the chromosomally abnormal clones of cells that may replace most of the cells in regenerating hematopoietic tissues after irradiation. It is only a limited number of karyotypes out of a variety of the cells with radiation-induced chromosome abnormalities that can persist as proliferative clones. Such clones in the bone marrows of irradiated rats were found to have aneusomic chromosome constitutions with trisomy or monosomy. This finding is contradictory to the general beliefs that the chromosomally abnormal clones surviving after irradiation would have the chromosome constitutions comparable to a normal diploid set making such clone cells selectively neutral, and that autosomally monosomic cells would not be able to compete against the cells in normal somatic tissues. The proliferation of aneusomic cells in hematopoietic tissues is a phenomenon observable in various blood disorders such as leukemia. The fact that almost all of the aneuploid clones observed possessed various chromosomal rearrangements in addition to their numerical changes appears to indicate that the chromosomal imbalance in original clones may predispose their chromosomes to non-disjunction. The process of the leukemic development of cells may require two steps: the leukemic transformation of cells and the proliferation of such transformed cells up to the manifestation of the disease. (Yamashita, S.)

Karyotype, heterochromatin distribution and meiosis of Zabrotes subfasciatus (Bohemann) (Coleoptera: Chrysomelidae, Bruchinae)

Energy Technology Data Exchange (ETDEWEB)

Correa, Ronan X.; Santos, Igor S.; Silva, Janisete G.; Costa, Marco A. [Universidade Estadual de Santa Cruz, Ilheus, BA (Brazil). Dept. de Ciencias Biologicas; Pompolo, Silvia G. [Universidade Federal de Vicosa, MG (Brazil). Dept. de Biologia Geral

2008-09-15

Zabrotes subfasciatus (Boh.) has been extensively studied in its agronomic and biochemical aspects due to its importance as a damaging insect to leguminous grains during storage. The few cytogenetic studies published on this species yielded conflicting results. In this study, the karyotype was analyzed in order to accurately describe the chromosome C-banding patterns and meiosis. The brain ganglion at the pre pupa and the adult and pupal testes were analyzed. All individuals had 26 chromosomes in both brain ganglion and spermatogonic mitotic metaphases. These chromosomes were classified as follows: the 12{sup th} pair and the Y chromosome were telocentric; the X chromosome was acrocentric; the 4{sup th} and 5{sup th} pairs were sub metacentric; and the remaining pairs were all metacentric. One of the members of the 5{sup th} pair presented a secondary constriction. All chromosomes presented pericentromeric heterochromatin. The large arms of the pairs 5, 9 and X presented heterochromatin. The X chromosome showed to be heteropyknotic throughout the prophase of the fi rst meiotic division. The sub phases of prophase I were atypical and meiosis II was rarely identified. Testes of all males showed a few cells; the bivalents were rod-like shaped in metaphase I. Karyological formulae were 2n = 24 + XX in females and 2n = 24 + XYp and either n = 12 + X or n = 12 + Y in males. (author)

Pleomorphic adenoma cells vary in their susceptibility to SV40 transformation depending on the initial karyotype.

Science.gov (United States)

Kazmierczak, B; Thode, B; Bartnitzke, S; Bullerdiek, J; Schloot, W

1992-07-01

Chromosomal aberrations involving 8q12 or 12q13-15 characterize two cytogenetic subgroups of salivary gland pleomorphic adenomas. As the tumors of the two groups differ in their clinical and histologic characteristics, we decided to determine their susceptibility to SV40 transformation. We transfected cell cultures from 13 adenomas with aberrations involving 8q12 and from seven adenomas with involvement of 12q13-15 using an SV40 plasmid coding for the early region of the viral genome. Whereas all cultures with aberrations of 12q13-15 showed transformed foci, only 4 of the 13 cultures with 8q12 abnormalities showed foci of transformed cells. We also observed a much higher immortalization rate in the first group (3/7 vs. 1/13). All successfully transformed tumor cell cultures showed a relatively stable karyotype in the pre-crisis stage and a high mitotic index, were T-antigen positive, and had an extended life span in vitro.

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.

Science.gov (United States)

Zhang, Rong; Marsch, Florian; Kause, Franziska; Degenhardt, Franziska; Schmiedeke, Eeberhard; Märzheuser, Stefanie; Hoppe, Bernd; Bachour, Haitham; Boemers, Thomas M; Schäfer, Matthias; Spychalski, Nicole; Neser, Jörg; Leonhardt, Johannes; Kosch, Ferdinand; Ure, Benno; Gómez, Barbara; Lacher, Martin; Deffaa, Oliver J; Palta, Markus; Wittekindt, Boris; Kleine, Katharina; Schmedding, Andrea; Grasshoff-Derr, Sabine; Ven, Amelie van der; Heilmann-Heimbach, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Ludwig, Michael; Reutter, Heiko

2017-07-17

The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes. To detect further causative CNVs we performed array based molecular karyotyping in 75 VATER/VACTERL and 40 VATER/VACTERL-like patients. Following the application of stringent filter criteria, we identified 13 microdeletions and seven microduplications in 20 unrelated patients all of which were absent in 1,307 healthy inhouse controls (n microdeletion at 17q12 was confirmed to be de novo. Three microdeletions at 5q23.1, 16q23.3, 22q11.21, and one microduplication at 10q11.21 were all absent in the available parent. Microdeletion of chromosomal region 22q11.21 was previously found in VATER/VACTERL patients rendering it to be causative in our patient. The remaining 15 CNVs were inherited from a healthy parent. In two of 115 patients' causative CNVs were found (2%). The remaining identified rare CNVs represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial VATER/VACTERL or VATER/VACTERL-like phenotypes. Birth Defects Research 109:1063-1069, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Chromosomal phylogeny of Lagothrix, Brachyteles, and Cacajao.

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Viegas Péquignot, E; Koiffmann, C P; Dutrillaux, B

1985-01-01

Based on a comparison of the karyotypes of two Plathyrrhini species, Cacajao melanocephalus (Pitheciinae) and Brachyteles arachnoides (Atelinae), with those of two previously studied species, Lagothrix lagothrica (Atelinae) and C calvus rubicundus (Pitheciinae), it appears that the two Cacajao species have undergone the same number of chromosome rearrangements since they diverged from their common ancestor and that the karyotype of Brachyteles is ancestral to that of Lagothrix. The chromosomal phylogeny of these four species is proposed. A Y-autosome translocation is present in the karyotypes of the two Cacajao species.

Novel mutations of the nucleophosmin (NPM-1) gene in Egyptian patients with acute myeloid leukemia: A pilot study

International Nuclear Information System (INIS)

Neemat Kassem, N.; Abel Hamid, A.; Tarek Attia, T.; Mahmoud, S.; Moemen, E.; Baathallah, Sh.; Safwat, E.; Khalaf, M.; Shaker, O.

2011-01-01

Mutations of the nucleophosmin (NPM-1) gene have been reported in 50-60% of acute myeloid leukemia (AML) patients with normal karyotype. This work was designed to study the prevalence and nature of NPM1 gene mutations in a group of Egyptian patients with AML to get an idea about the profile of NPM1 gene mutations in our society. In 45 previously untreated patients with de novo AML, peripheral blood and/or bone marrow samples from all patients were subjected to microscopic morphologic examination, cytochemical analysis, immuno phenotyping and karyotyping. Patients with normal cytogenetic results were selected for molecular analysis of NPM1 exon 12 by PCR amplification followed by DNA sequencing of the amplified product. Twenty-one patients (46.7%) had abnormal karyotype: six cases with ;(15;17), five cases with (8;21), five cases had trisomy 8, two cases carrying inv(3) and three cases had monosomy 7. The remaining 24 patients (53.3%) had normal karyotype. These patients were then subjected to molecular analysis. Out of these 24 patients with normal karyotype, mutant NPM-1 was detected in 11 patients (45.8%) by DNA sequencing; 2 cases showed type A mutation, 2 cases were harboring [ins 1015-4019 (CACG)], with point mutation [1006C→G], while the remaining 7 cases showed heterozygous deletion of nt A [del 1178 (A)]. Conclusion: Two novel NPM1 gene mutations were detected among our study population of AML patients identified as: the insertion CACG associated with point mutation, deletion of one base, or associated with point mutation. NPM1 gene mutations may become a new tool for monitoring minimal residual disease in AML with normal karyotype. Whether these previously unreported NPM-1 mutations will confer the same better outcome as previously reported mutations is currently unknown and warrants a larger study.

Karyotype of the invasive species Pterois volitans (Scorpaeniformes: Scorpaenidae) from Margarita Island, Venezuela.

Science.gov (United States)

Nirchio, Mauro; Ehemann, Nicolás; Siccha-Ramirez, Raquel; Ron, Ernesto; Pérez, Julio Eduardo; Rossi, Anna Rita; Oliveira, Claudio

2014-12-01

The genus Pterois includes nine valid species, native to the Red Sea and Indian Ocean throughout the Western Pacific. P. volitans and P. miles are native to the Indo-Pacific, and were introduced into Florida waters as a result of aquarium releases, and have been recently recognized as invaders of the Western Atlantic and Caribbean Sea (Costa Rica to Venezuela). Thus far, cytogenetic studies of the genus Pterois only cover basic aspects of three species, including P. volitans from Indo-Pacific Ocean. Considering the lack of more detailed information about cytogenetic characteristics of this invasive species, the objective of the present study was to investigate the basic and molecular cytogenetic characteristics of P. volitans in Venezuela, and compare the results with those from the original distribution area. For this, the karyotypic characteristics of four lionfish caught in Margarita Island, Venezuela, were investigated by examining metaphase chromosomes by Giemsa staining, C-banding, Ag-NOR, and two-colour-Fluorescent in situ hybridization (FISH) for mapping of 18S and 5S ribosomal genes. Comparing the sequences of the 16S gene of the specimens analyzed, with sequences already included in the Genbank, we corroborated that our specimens identified as P. volitans are in fact this species, and hence exclude the possibility of a misidentification of P. miles. The diploid number was 2n = 48 (2m + 10sm + 36a) with FN = 60. Chromosomes uniformly decreased in size, making it difficult to clearly identify the homologues except for the only metacentric pair, and the pairs number two, the largest of the submetacentric series. C-banding revealed only three pairs of chromosomes negative for C-band, whereas all remaining chromosomes presented telomeric and some interstitial C-positive blocks. Only two chromosomes were C-banding positive at the pericentromeric regions. Sequential staining revealed Ag-NOR on the tips of the short arms of chromosome pair number two and the FISH

SRY mutation analysis by next generation (deep sequencing in a cohort of chromosomal Disorders of Sex Development (DSD patients with a mosaic karyotype

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Hersmus Remko

2012-11-01

Full Text Available Abstract Background The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD. DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY region, have an increased risk of developing type II germ cell tumors/cancer (GCC, most likely related to TSPY. The Sex determining Region on the Y gene (SRY is located on the short arm of the Y-chromosome and is the crucial switch that initiates testis determination and subsequent male development. Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD cases. The majority of the mutations described are located in the central HMG domain, which is involved in the binding and bending of the DNA and harbors two nuclear localization signals. SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads. Methods To thoroughly investigate the presence of possible SRY gene mutations in mosaic DSD patients, we performed next generation (deep sequencing on the genomic DNA of fourteen independent patients (twelve 45,X/46,XY, one 45,X/46,XX/46,XY, and one 46,XX/46,XY. Results and conclusions The results demonstrate that aberrations in SRY are rare in mosaic DSD patients and therefore do not play a significant role in the etiology of the disease.

The prevalence of turner syndrome in girls presenting with coarctation of the aorta.

Science.gov (United States)

Wong, Sze Choong; Burgess, Trent; Cheung, Michael; Zacharin, Margaret

2014-02-01

To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed. Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome. Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA. Copyright © 2014 Mosby, Inc. All rights reserved.

A new karyotype of Calomyscus from the Khorasan Province, Iran

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Esmaeeli Somayeh

2008-07-01

Full Text Available Abstract We report a new karyotype of Calomyscus from two localities of the Khorasan Province (Aghdarband, 36° 11’ 3”N, 60° 44’ 6” E and Khajemorad, 36° 8’ 5” N, 59° 41’ 58” E. Chromosomes were examined by conventional staining and C-banding techniques. The diploid chromosome number (2n and the fundamental autosomal arm number (FNa were 44 and 60 respectively. The autosomal set consisted of 12 pairs of telocentrics, 5 pairs of acrocentrics and 4 pairs of sub-metacentrics. Both heterosomes were small telocentrics. Riassunto Un nuovo cariotipo del genere Calomyscus dalla provincia di Khorasan, Iran. Si descrive un nuovo cariotipo appartenente al genere Calomyscus, scoperto in due località della provincia di Khorasan (Aghdarband, 36° 11’ 3”N, 60° 44’ 6” E e Khajemorad, 36° 8’ 5” N, 59° 41’ 58” E. I cromosomi sono stati analizzati con le tecniche standard di colorazione e bandeggio. Il numero diploide di cromosomi (2n e il numero fondamentale di bracci autosomici sono risultati pari a 44 e 60 rispettivamente. Il set di cromosomi autosomici è composto da 12 paia di telocentrici, 5 di acrocentrici e 4 di sub-metacentrici. Entrambi i cromosomi sessuali si presentano come piccoli telocentrici.

Analysis of previous perceptual and motor experience in breaststroke kick learning

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Ried Bettina

2015-12-01

Full Text Available One of the variables that influence motor learning is the learner’s previous experience, which may provide perceptual and motor elements to be transferred to a novel motor skill. For swimming skills, several motor experiences may prove effective. Purpose. The aim was to analyse the influence of previous experience in playing in water, swimming lessons, and music or dance lessons on learning the breaststroke kick. Methods. The study involved 39 Physical Education students possessing basic swimming skills, but not the breaststroke, who performed 400 acquisition trials followed by 50 retention and 50 transfer trials, during which stroke index as well as rhythmic and spatial configuration indices were mapped, and answered a yes/no questionnaire regarding previous experience. Data were analysed by ANOVA (p = 0.05 and the effect size (Cohen’s d ≥0.8 indicating large effect size. Results. The whole sample improved their stroke index and spatial configuration index, but not their rhythmic configuration index. Although differences between groups were not significant, two types of experience showed large practical effects on learning: childhood water playing experience only showed major practically relevant positive effects, and no experience in any of the three fields hampered the learning process. Conclusions. The results point towards diverse impact of previous experience regarding rhythmic activities, swimming lessons, and especially with playing in water during childhood, on learning the breaststroke kick.

Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports.

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Sugawara, Nobuo; Maeda, Machiko; Manome, Tomomi; Nagai, Rie; Araki, Yasuhisa

2013-10-01

Pubertal onset and sexual development are usually normal in 47, XXX individuals; however, we report two cases of premature ovarian failure (POF) in infertile women with trisomy X. Chromosome analysis was conducted with G-banding and fluorescence in situ hybridization using X- and Y-bearing probe. Hormonal administration was primarily Kaufmann's treatment or long-term estradiol treatment, followed by withdrawal bleeding from estrogen and progesterone. Two patients with trisomy X, aged 31 (patient 1) and 27 years (patient 2), were diagnosed with POF due to hypergonadotropic hypogonadism. Their ovaries were small. Patient 1 had a FSH level of 44.6 mIU/ml and patient 2 had a FSH level of 74.6 mIU/ml. In patient 1, with Kaufmann's treatment, the FSH decreased to 13.5 mIU/ml; however, follicle growth did not occur following HMG stimulation. In patient 2, FSH did not decrease despite Kaufmann's treatment; therefore, she was given a GnRH agonist and her FSH level decreased to 7.1 mIU/ml. However, her ovaries never responded to HMG stimulation. We report on two patients with a 47, XXX karyotype who became infertile due to POF. We recommend that when a patient is diagnosed with trisomy X, the possibility of POF must be strongly considered.

Incidence and significance of FLT3-ITD and NPM1 mutations in patients with normal karyotype acute myeloid leukaemia.

LENUS (Irish Health Repository)

Haslam, K

2012-02-01

BACKGROUND: Acute myeloid leukaemia (AML) is a heterogeneous clonal disorder of haematopoietic progenitor cells. Approximately half of all adult AML patients have a normal karyotype (NK-AML) and an intermediate risk prognosis. AIMS: To determine the incidence and prognostic significance of NPM1 and FLT3-ITD mutations in a population of patients with NK-AML. METHODS: FLT3-ITD and NPM1 mutation status was retrospectively sought in presentation samples from 44 NK-AML patients. RESULTS: FLT3-ITD and NPM1 mutations were detected in 45.5 and 54.5% of patients, respectively, allowing stratification according to genotype. CONCLUSIONS: FLT3-ITD and NPM1 mutation status can be defined in NK-AML. Prospective screening for these mutations is advocated in all NK-AML patients, as the genotype is of clinical importance when considering treatment options including stem cell transplantation.

DNA characterization and karyotypic evolution in the bee genus Melipona (Hymenoptera, Meliponini).

Science.gov (United States)

Rocha, Marla Piumbini; Pompolo, Silvia Das Graças; Dergam, Jorge Abdala; Fernandes, Anderson; Campos, Lucio Antonio De Oliveira

2002-01-01

We analyzed patterns of heterochromatic bands in the Neotropical stingless bee genus Melipona (Hymenoptera, Meliponini). Group I species (Melipona bicolor bicolor, Melipona quadrifasciata, Melipona asilvae, Melipona marginata, Melipona subnitida) were characterized by low heterochromatic content. Group II species (Melipona capixaba, Melipona compressipes, Melipona crinita, Melipona seminigra fuscopilosa e Melipona scutellaris) had high heterochromatic content. All species had 2n = 18 and n = 9. In species of Group I heterochromatin was pericentromeric and located on the short arm of acrocentric chromosomes, while in Group II species heterochromatin was distributed along most of the chromosome length. The most effective sequential staining was quinacrine mustard (QM)/distamycin (DA)/chromomycin A3(CMA3)/4-6-diamidino-2-phenylindole (DAPI). Heterochromatic and euchromatic bands varied extensively within Group I. In Group II species euchromatin was restricted to the chromosome tips and it was uniformly GC+. Patterns of restriction enzymes (EcoRI, DraI, HindIII) showed that heterochromatin was heterogeneous. In all species the first pair of homologues was of unequal size and showed heteromorphism of a GC+ pericentromeric heterochromatin. In M. asilvae (Group I) this pair bore NOR and in M. compressipes (Group II) it hybridized with a rDNA FISH probe. As for Group I species the second pair was AT+ in M. subnitida and neutral for AT and GC in the remaining species of this group. Outgroup comparison indicates that high levels of heterochromatin represent a derived condition within Melipona. The pattern of karyotypic evolution sets Melipona in an isolated position within the Meliponini.

Karyotype of the invasive species Pterois volitans (Scorpaeniformes: Scorpaenidae from Margarita Island, Venezuela

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Mauro Nirchio

2014-12-01

Full Text Available The genus Pterois includes nine valid species, native to the Red Sea and Indian Ocean throughout the Western Pacific. P. volitans and P. miles are native to the Indo-Pacific, and were introduced into Florida waters as a result of aquarium releases, and have been recently recognized as invaders of the Western Atlantic and Caribbean Sea (Costa Rica to Venezuela. Thus far, cytogenetic studies of the genus Pterois only cover basic aspects of three species, including P. volitans from Indo-Pacific Ocean. Considering the lack of more detailed information about cytogenetic characteristics of this invasive species, the objective of the present study was to investigate the basic and molecular cytogenetic characteristics of P. volitans in Venezuela, and compare the results with those from the original distribution area. For this, the karyotypic characteristics of four lionfish caught in Margarita Island, Venezuela, were investigated by examining metaphase chromosomes by Giemsa staining, C-banding, Ag-NOR, and two-colour-Fluorescent in situ hybridization (FISH for mapping of 18S and 5S ribosomal genes. Comparing the sequences of the 16S gene of the specimens analyzed, with sequences already included in the Genbank, we corroborated that our specimens identified as P. volitans are in fact this species, and hence exclude the possibility of a misidentification of P. miles. The diploid number was 2n=48 (2m+10sm+36a with FN=60. Chromosomes uniformly decreased in size, making it difficult to clearly identify the homologues except for the only metacentric pair, and the pairs number two, the largest of the submetacentric series. C-banding revealed only three pairs of chromosomes negative for C-band, whereas all remaining chromosomes presented telomeric and some interstitial C-positive blocks. Only two chromosomes were C-banding positive at the pericentromeric regions. Sequential staining revealed Ag-NOR on the tips of the short arms of chromosome pair number two and

Single nucleotide polymorphism array karyotyping: a diagnostic and prognostic tool in myelodysplastic syndromes with unsuccessful conventional cytogenetic testing.

Science.gov (United States)

Arenillas, Leonor; Mallo, Mar; Ramos, Fernando; Guinta, Kathryn; Barragán, Eva; Lumbreras, Eva; Larráyoz, María-José; De Paz, Raquel; Tormo, Mar; Abáigar, María; Pedro, Carme; Cervera, José; Such, Esperanza; José Calasanz, María; Díez-Campelo, María; Sanz, Guillermo F; Hernández, Jesús María; Luño, Elisa; Saumell, Sílvia; Maciejewski, Jaroslaw; Florensa, Lourdes; Solé, Francesc

2013-12-01

Cytogenetic aberrations identified by metaphase cytogenetics (MC) have diagnostic, prognostic, and therapeutic implications in myelodysplastic syndromes (MDS). However, in some MDS patients MC study is unsuccesful. Single nucleotide polymorphism array (SNP-A) based karyotyping could be helpful in these cases. We performed SNP-A in 62 samples from bone marrow or peripheral blood of primary MDS with an unsuccessful MC study. SNP-A analysis enabled the detection of aberrations in 31 (50%) patients. We used the copy number alteration information to apply the International Prognostic Scoring System (IPSS) and we observed differences in survival between the low/intermediate-1 and intermediate-2/high risk patients. We also saw differences in survival between very low/low/intermediate and the high/very high patients when we applied the revised IPSS (IPSS-R). In conclusion, SNP-A can be used successfully in PB samples and the identification of CNA by SNP-A improve the diagnostic and prognostic evaluation of this group of MDS patients. Copyright © 2013 Wiley Periodicals, Inc.

Second case of chronic granulocytic leukemia with karyotypic evolution at acute crisis, occurring in so-called Nishiyama district

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Yao, E; Tomonaga, Yu; Nishino, K; Matsunaga, M; Sadamori, N [Nagasaki Univ. (Japan). School of Medicine

1978-09-01

The whole process of a second case of chronic granulocytic leukemia in Nishiyama district where a very small amount of radiation existed for a long time was reported together with data measured by a human counter and the results of chromosomal analysis. No significantly high K or /sup 137/Cs values were measured by a human counter immediately after the onset. Chromosomal division aberration and chromosomal aberration, which seemed to be induced by radiation, also were not observed. However, granulocytic leukemia was diagnosed after chromosomal analysis of peripheral blood revealed Ph/sup 1/ chromosomes, white cell count increased, juvenile cells appeared, and basophil cells increased. Clinical features of typical chronic granulocytic leukemia in the exposed were observed during the chronic stage (7 years). In the acute stage, abnormal clones were discovered in all 16 chromosomes analyzed. Much karyotypic evolution identical to that in persons directly exposed to the A-bomb was also observed.

X-ray effects on karyotype of Drosophila pseudo obscure. Pilot experience

International Nuclear Information System (INIS)

Salceda, V. M.

2009-10-01

Four groups of 100 males of Drosophila pseudo obscure carriers of genetic sequence Tree Line were treated with X-rays, through the use of a X-ray equipment Phillips MCN321; with absorbed individual doses of 28.2 Gy, 37.6 Gy, 47.6 Gy and 56.4 Gy, once irradiated these were crossed individually with two or three virgin females of the same constitution and the descendant emergency was took a larva of each crossing in order to detect the radiation effect on karyotype Tree Line of these organisms, chromosomal aberrations fundamentally, as well as on masculine sterility. Our observations gave as result for smaller dose, in a total of 61 analyzed larva, the obtaining of seven translocations equivalent to 11.5% as well as an inversion of 1.6%; with the following dose (58 analyzed larva) were obtained four translocations equal to 6.9%, two corresponding inversions to 3.4%, a mosaic and a deletion equivalent to 1.7%; with the dose of 47.6 Gy four translocations were induced 6.8% and deletion corresponding to 1.1%, again two respective inversions to 3.4% and a mosaic 1.7% in 59 analyzed larvas, meantime with the dose of 56.4 Gy appeared two translocations only equal to 3.7% in a sample of 54 individuals. The effect about masculine sterility was equal that the witness of 12% and for two following doses and finally of 41 and 46% respectively for the remaining doses. Comparisons with another authors gave similar values in the total cases. In accordance with our main objective, it is suggested to increase the sample size and to repeat the experiments using different genetic sequences as well as the possibility to use different radiation sources like gamma radiation and this way to utilize this system like a biological dosemeter. (Author)

Mixed gonadal dysgenesis with Turner`s phenotype and mosaic karyotype

Energy Technology Data Exchange (ETDEWEB)

Tarim, O.; Lieber, E. [Maimonides Medical Center, Brooklyn, NY (United States)]|[Interfaith Medical Center, Brooklyn, NY (United States)

1994-09-01

A 14 8/12-year-old white female patient was evaluated for short stature and amenorrhea. The past and family history were unremarkable. The physical examination revealed a short girl (131.4 cm; height age: 9) with a weight of 39.5kg (weight age: 11-6/12). The blood pressure was in the normal range in all four extremities and the peripheral pulses were positive. She had stigmata of Turner`s syndrome including short neck and slight webbing, cubitus valgus, and shield chest. There was no heart murmur. The only pubertal sign was pubic hair of Tanner stage II. The chromosome study showed a mosaic pattern. A total of 67 cultured lymphocytes from peripheral blood were analyzed which revealed 13 cells with 45,XO; 14 with 46,XY,r(Y); 39 with 46,XY. The patient had a normal vagina and hypoplastic uterus by sonogram. The diagnosis of mixed gonadal dysgenesis was confirmed by exploratory laparotomy and bilateral gonadectomy. The histologic examination of the gonads showed a testicle on the left and a streak ovary on right. The karyotype of the testicular tissue revealed 45,XO in 32 out of 40 and 46,XY in the remaining 8 cells. Pre-operative hormonal evaluation showed elevated gonadotropin levels of FSH 73.5 and LH 12.5 mIU/ml, low estradiol level of 5 pg/ml, normal testosterone level of 18 and DHEA-S of 181 mcg/dl, and normal thyroid function test with T4 of 6 mcg/dl and TSH of 4.2 mIU/ml. Her bone age was 12 years. The patient was also found to have subnormal growth hormone (GH) secretion by overnight GH study (1.55 ng/ml), clonidine stimulation test (7.3ng/ml), and insulin stimulation test (9.2 ng/ml). She responded well to human synthetic GH treatment with a growth velocity of 11.5 cm in two years. Replacement of sex hormones will be initiated after the completion of growth.

Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion.

Science.gov (United States)

Zahed, Laila; Sismani, Carolina; Ioannides, M; Saleh, Monzer; Koumbaris, G; Kenj, Mazen; Abdallah, Amal; Ayyache, Maya; Patsalis, Philippos

2008-04-01

We report on a 13-year-old female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y chromosome in 20% of the cells was also confirmed in skin fibroblast cultures. FISH analyses using Y centromere, SRY, subtelomere XpYp/XqYq, Y and 4 painting probes, confirmed the cytogenetic findings. High-resolution STS analyses using 40 markers covering the Y chromosome did not identify any deletion on the Y. However, de novo absence of the 4p subtelomeric region was noted by FISH, although this deletion was not revealed by Array-CGH at 1 Mb resolution, the last array clone being 0.35 or 1 Mb distal to the 4p FISH probe. The female phenotype of this patient must be due to the loss of the derivative Y chromosomes in some of her cells, especially the gonads, while the 4p subtelomeric deletion does not seem to contribute to her phenotype. Copyright 2008 Wiley-Liss, Inc.

Identification of Y-Chromosome Sequences in Turner Syndrome.

Science.gov (United States)

Silva-Grecco, Roseane Lopes da; Trovó-Marqui, Alessandra Bernadete; Sousa, Tiago Alves de; Croce, Lilian Da; Balarin, Marly Aparecida Spadotto

2016-05-01

To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome. The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences DYZ1, DYZ3, ZFY and SRY were amplified by Polymerase Chain Reaction. The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis. The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.

Description of the karyotype of Rhagomys rufescens Thomas, 1886 (Rodentia, Sigmodontinae from Southern Brazil Atlantic forest

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André Filipe Testoni

2010-01-01

Full Text Available Rhagomys rufescens (Rodentia: Sigmodontinae is an endemic species of the Atlantic forest from Southern and Southeastern Brazil. Some authors consider Rhagomys as part of the tribe Thomasomyini; but its phylogenetic relationships remain unclear. Chromosomal studies on eight specimens of Rhagomys rufescens revealed a diploid number of 2n = 36 and a number of autosome arms FN = 50. GTG, CBG and Ag-NOR banding and CMA3/DAPI staining were performed on metaphase chromosomes. Eight biarmed and nine acrocentric pairs were found in the karyotype of this species. The X and Y chromosomes were both acrocentric. Most of the autosomes and the sex chromosomes showed positive C-bands in the pericentromeric region. The X chromosome showed an additional heterochromatic block in the proximal region of the long arm. Nucleolus organizer regions (NORs were located in the pericentromeric region of three biarmed autosomes (pairs 4, 6 and 8 and in the telomeric region of the short arm of three acrocentrics (pairs 10, 12 and 17. CMA3/DAPI staining produced fluorescent signals in many autosomes, especially in pairs 4, 6, and 8. This study presents cytogenetic data of Rhagomys rufescens for the first time.

KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia.

Science.gov (United States)

Lopes, Marta; Teixeira, Maria Dos Anjos; Casais, Cláudia; Mesquita, Vanessa; Seabra, Patrícia; Cabral, Renata; Palla-García, José; Lau, Catarina; Rodrigues, João; Jara-Acevedo, Maria; Freitas, Inês; Vizcaíno, Jose Ramón; Coutinho, Jorge; Escribano, Luis; Orfao, Alberto; Lima, Margarida

2018-01-01

Mast cell (MC) leukemia (MCL) is extremely rare. We present a case of MCL diagnosed concomitantly with acute myeloblastic leukemia (AML). A 41-year-old woman presented with asthenia, anorexia, fever, epigastralgia, and diarrhea. She had a maculopapular skin rash, hepatosplenomegaly, retroperitoneal adenopathies, pancytopenia, 6% blast cells (BC) and 20% MC in the peripheral blood, elevated lactate dehydrogenase, cholestasis, hypoalbuminemia, hypogammaglobulinemia, and increased serum tryptase (184  μ g/L). The bone marrow (BM) smears showed 24% myeloblasts, 17% promyelocytes, and 16% abnormal toluidine blue positive MC, and flow cytometry revealed 12% myeloid BC, 34% aberrant promyelocytes, a maturation blockage at the myeloblast/promyelocyte level, and 16% abnormal CD2-CD25+ MC. The BM karyotype was normal, and the KIT D816V mutation was positive in BM cells. The diagnosis of MCL associated with AML was assumed. The patient received corticosteroids, disodium cromoglycate, cladribine, idarubicin and cytosine arabinoside, high-dose cytosine arabinoside, and hematopoietic stem cell transplantation (HSCT). The outcome was favorable, with complete hematological remission two years after diagnosis and one year after HSCT. This case emphasizes the need of an exhaustive laboratory evaluation for the concomitant diagnosis of MCL and AML, and the therapeutic options.

Karyotype Diversity and Evolutionary Trends in Armored Catfish Species of the Genus Harttia (Siluriformes: Loricariidae).

Science.gov (United States)

Blanco, Daniel Rodrigues; Vicari, Marcelo Ricardo; Lui, Roberto Laridondo; Traldi, Josiane Baccarin; Bueno, Vanessa; Martinez, Juliana de Fátima; Brandão, Heleno; Oyakawa, Osvaldo Takeshi; Moreira Filho, Orlando

2017-04-01

Most species of the genus Harttia inhabits the headwaters of small tributaries, but some species are restricted to the main channel of some rivers. This feature, combined with limited dispersal ability, leads to the formation of small isolated populations with reduced gene flow. Currently, there are 23 taxonomically defined and recognized species, and 17 of these are found in Brazil, distributed in several hydrographic basins. Despite this diversity, few chromosomal data for the species belonging to this genus are found in the literature. Thus, this study analyzed, by classical and molecular cytogenetics methodologies, the chromosomal diversity of this genus, to discuss the processes that are involved in the evolution and karyotype differentiation of the species of the group. Seven species of Harttia were analyzed: H. kronei, H. longipinna, H. gracilis, H. punctata, H. loricariformis, H. torrenticola, and H. carvalhoi. The chromosomal diversity found in these species includes different diploid and fundamental numbers, distinct distribution of several repetitive sequences, the presence of supernumerary chromosomes in H. longipinna and multiple sex chromosome systems of the type XX/XY 1 Y 2 in H. carvalhoi and X 1 X 1 X 2 X 2 /X 1 X 2 Y in H. punctata. Lastly, our data highlight the genus Harttia as an excellent model for evolutionary studies.

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy

DEFF Research Database (Denmark)

Nouhravesh, Nina; Ahlberg, Gustav; Ghouse, Jonas

2016-01-01

BACKGROUND: Hundreds of genetic variants have been described as disease causing in dilated cardiomyopathy (DCM). Some of these associations are now being questioned. We aimed to identify the prevalence of previously DCM associated variants in the Exome Aggregation Consortium (ExAC), in order...... to identify potentially false-positive DCM variants. METHODS: Variants listed as DCM disease-causing variants in the Human Gene Mutation Database were extracted from ExAC. Pathogenicity predictions for these variants were mined from dbNSFP v 2.9 database. RESULTS: Of the 473 DCM variants listed in HGMD, 148...... (31%) were found in ExAC. The expected number of individuals with DCM in ExAC is 25 based on the prevalence in the general population. Yet, 35 variants were found in more than 25 individuals. In 13 genes, we identified all variants previously associated with DCM; four genes contained variants above...

CARIOTIPO DEL TITÍ GRIS (Saguinus leucopus MEDIANTE BANDAS R-REPLICATIVAS KARYOTYPE OF TITÍ GREY (Saguinus leucopus THROUGH R-REPLICATIVE BANDS

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Susana Posada Céspedes

2012-06-01

dispersers. Morphologically characterized by small size, brown fur and silver back. It is organized in family groups formed by the couple and their offspring, with a dominant female, which is the only breeding. Due mainly to anthropogenic factors, is listed as endangered species by IUCN and is registered in Appendix I of CITES. Although studies have been conducted on the basic biology of S. leucopus, there are few reports on the cytogenetic evaluation and none on banded karyotype R - Replicative. In this research was performed the karyotype and ideogram with replicating R-bands by incorporating 5'-bromo-2'-deoxyuridine (BrdU in peripheral blood stimulated with phytohemaglutinine of S. leucopus. The results showed a karyotype 2n = 46, with a fundamental number (NF of 76. Chromosomes are organized into five groups according to their shape and size. Group A, is made up of three pairs of large submetacentric chromosomes; group B for 5 pairs of chromosomes metacentric or submetacentric average size; group C for 6 acrocentric pairs; and group D by 8 pairs subtelocentric and sexual pair XX/XY. The "X" chromosome is medium submetacentric, and the "Y" is metacentric and the smallest genome. Finally, we propose an R-banded ideogram based Replicative mitosis stage III replication.

Karyotype description of Pomacea patula catemacensis (Caenogastropoda, Ampullariidae), with an assessment of the taxonomic status of Pomacea patula.

Science.gov (United States)

Diupotex-Chong, María Esther; Cazzaniga, Néstor J; Hernández-Santoyo, Alejandra; Betancourt-Rule, José Miguel

2004-12-01

Mitotic chromosomes of the freshwater snail Pomacea patula catemacensis (Baker 1922) were analyzed on gill tissue of specimens from the type locality (Lake Catemaco, Mexico). The diploid number of chromosomes is 2n = 26, including nine metacentric and four submetacentric pairs; therefore, the fundamental number is FN = 52, No sex chromosomes could be identified. The same chromosome number and morphology were already reported for P. flagellata, i.e., the other species of the genus living in Mexico. The basic haploid number for family Ampullariidae was reported to be n = 14 in the literature; so, its reduction to n = 13 is probably an apomorphy of the Mexican Pomacea snails. Lanistes bolteni, from Egypt, also shows n = 13, but its karyotype is much more asymmetrical, and seems to have evolved independently from P. flagellata and P. patula catemacensis. The nominotypical subspecies, P. patula patula (Reeve 1856), is a poorly known taxon, whose original locality is unknown. A taxonomical account is presented here, and a Mexican origin postulated as the most parsimonious hypothesis.

Anomalias e prognóstico fetal associados à translucência nucal aumentada e cariótipo anormal Fetal abnormalities and prognosis associated with increased nuchal translucency and abnormal karyotype

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Fátima Aparecida Targino Saldanha

2009-01-01

Full Text Available OBJETIVO: Descrever a frequência de anomalias cromossômicas em fetos com translucência nucal (TN aumentada, e a frequência de malformações estruturais, a evolução e o resultado da gestação nos fetos com TN aumentada e cariótipo anormal. MÉTODOS: Estudo retrospectivo envolvendo 246 casos com medida da TN acima do percentil 95º para a idade gestacional, com cariótipo fetal conhecido ou avaliação clínica das crianças no período pós-natal. Os casos foram acompanhados no setor de Medicina Fetal do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. RESULTADOS: O resultado do cariótipo fetal esteve alterado em 14,2% dos casos. O acompanhamento dessas gestações revelou anormalidade estruturais em 80,8% dos fetos, sendo as anormalidades cardíacas as mais comuns (61,5%. Resultados gestacionais adversos, como abortamento, óbitos intraútero e neonatal ocorreram em 76,5% dos fetos. CONCLUSÃO: Translucência nucal aumentada, entre 11 - 13 semanas e 6 dias, é importante marcador de anomalias cromossômicas fetais e malformações estruturais fetais, principalmente cardíacas. Diante deste achado, há aumento do risco de abortamento, óbito intrauterino e neonatal para estas gestações.OBJECTIVES: This study aimed to evaluate the incidence of chromosomal abnormalities in fetuses with increased nuchal translucency (NT measurement. Incidence of structural abnormalities and pregnancy outcome was also described in fetuses with increased NT and abnormal karyotype. METHODS: This was a retrospective study involving 246 fetuses with increased NT and known karyotype followed at the Fetal Medicine Unit, Hospital das Clínicas, São Paulo University Medical School. RESULTS: Fetal karyotype was abnormal in 14.2% of the cases. Ultrasound anomaly scan and specialized echocardiographic studies in these cases showed fetal structural abnormalities in 80.8% and cardiac defects were found in 61.5% of the fetuses. Pregnancy

Chromosome changes in cattle on the farms in Serbia

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Košarčić Slavica

2005-01-01

Full Text Available In the paper we presented five-year investigations of numeric and structural changes in cattle karyotype on five farms and two centers for reproduction in Serbia. There were 371 breeding animals (215 male and 156 female, out of which 267 Holstein Friesian breed (193 male and 74 female, 62 Simmental (17 male and 45 female and 42 Grey Steppe breed (5 male and 37 female. Cultivating of lymphocytes and karyotype analyses, according to the international standards for karyotypization of domestic animals, were applied. The aim of the investigation was to test genetic material on chromosome level of animals introduced into reproduction. The following changes were discovered in the karyotype: 6 animals of Holstein-Friesian breed were with chimeras 2n=60XX/XY and there was one Robertson's translocation in Simmental breed. Structural changes as breakage and a ring were discovered in two animals of Holstein-Friesian and Simmental breed raised in the area of bombing in Serbia. The animals of Grey Steppe breed had normal karyotype. There is a total of 9 animals with changes (2.42%, while 362 were with normal karyotype, total 97.57%. According to the results, it may be concluded that cytogenetical attestation of the breeding animals will have to be continued for the purpose of protecting the genofond on cattle farms.

New insights into the karyotype evolution of the free-living flatworm Macrostomum lignano (Platyhelminthes, Turbellaria).

Science.gov (United States)

Zadesenets, Kira S; Schärer, Lukas; Rubtsov, Nikolay B

2017-07-20

The free-living flatworm Macrostomum lignano is a model organism for evolutionary and developmental biology studies. Recently, an unusual karyotypic diversity was revealed in this species. Specifically, worms are either 'normal' 2n = 8, or they are aneuploid with one or two additional large chromosome(s) (i.e. 2n = 9 or 2n = 10, respectively). Aneuploid worms did not show visible behavioral or morphological abnormalities and were successful in reproduction. In this study, we generated microdissected DNA probes from chromosome 1 (further called MLI1), chromosome 2 (MLI2), and a pair of similar-sized smaller chromosomes (MLI3, MLI4). FISH using these probes revealed that MLI1 consists of contiguous regions homologous to MLI2-MLI4, suggesting that MLI1 arose due to the whole genome duplication and subsequent fusion of one full chromosome set into one large metacentric chromosome. Therefore, one presumably full haploid genome was packed into MLI1, leading to hidden tetraploidy in the M. lignano genome. The study of Macrostomum sp. 8 - a sibling species of M. lignano - revealed that it usually has one additional pair of large chromosomes (2n = 10) showing a high homology to MLI1, thus suggesting hidden hexaploidy in its genome. Possible evolutionary scenarios for the emergence of the M. lignano and Macrostomum sp. 8 genomes are discussed.

Telomere-Centromere-Driven Genomic Instability Contributes to Karyotype Evolution in a Mouse Model of Melanoma

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Amanda Gonçalves dos Santos Silva

2010-01-01

Full Text Available Aneuploidy and chromosomal instability (CIN are hallmarks of most solid tumors. These alterations may result from inaccurate chromosomal segregation during mitosis, which can occur through several mechanisms including defective telomere metabolism, centrosome amplification, dysfunctional centromeres, and/or defective spindle checkpoint control. In this work, we used an in vitro murine melanoma model that uses a cellular adhesion blockade as a transforming factor to characterize telomeric and centromeric alterations that accompany melanocyte transformation. To study the timing of the occurrence of telomere shortening in this transformation model, we analyzed the profile of telomere length by quantitative fluorescent in situ hybridization and found that telomere length significantly decreased as additional rounds of cell adhesion blockages were performed. Together with it, an increase in telomere-free ends and complex karyotypic aberrations were also found, which include Robertsonian fusions in 100% of metaphases of the metastatic melanoma cells. These findings are in agreement with the idea that telomere length abnormalities seem to be one of the earliest genetic alterations acquired in the multistep process of malignant transformation and that telomere abnormalities result in telomere aggregation, breakage-bridge-fusion cycles, and CIN. Another remarkable feature of this model is the abundance of centromeric instability manifested as centromere fragments and centromeric fusions. Taken together, our results illustrate for this melanoma model CIN with a structural signature of centromere breakage and telomeric loss.

Notes on the present situation of Anastrepha fraterculus in Argentina

International Nuclear Information System (INIS)

Manso, F.; Basso, A.

1999-01-01

Behavioural and karyotypical results from Anastrepha fraterculus samples received in our laboratory during the period 92-94 are discussed. The work represents the partial situation of this pest in Argentina. Data from guava fruits indicate 1) that the oviposition behaviour does not agree with the autocontrol mechanism via ODP previously described, 2) that a selection mechanism associated to fruit size and quality exists, allowing the female to choose the oviposition site, 3) if different varieties of fruits are available, then the fly shows preference for one of them. The oviposition behaviour in samples of peaches is different from that observed on guava samples and agrees with the ODP mechanism. In some localities, A. fraterculus and C. capitata share the same substrate or fruit (same unit). Samples from commercial oranges do not show evidence of Anastrepha attack. A more frequent karyotype fArg 1 (wild type karyotype) as well as high karyotypic variation, mainly measured through the polymorphism of sexual chromosomes, are present within different geographic populations sharing the same host species. To date, we do not have enough information to associate a particular behaviour to a karyotype. The chromosomal analysis is merely descriptive. (author)

SENSITIVITY ANALYSIS FOR SALTSTONE DISPOSAL UNIT COLUMN DEGRADATION ANALYSES

Energy Technology Data Exchange (ETDEWEB)

Flach, G.

2014-10-28

PORFLOW related analyses supporting a Sensitivity Analysis for Saltstone Disposal Unit (SDU) column degradation were performed. Previous analyses, Flach and Taylor 2014, used a model in which the SDU columns degraded in a piecewise manner from the top and bottom simultaneously. The current analyses employs a model in which all pieces of the column degrade at the same time. Information was extracted from the analyses which may be useful in determining the distribution of Tc-99 in the various SDUs throughout time and in determining flow balances for the SDUs.

Fish quality – linking previous infections to the quality of consumers’ fillet

DEFF Research Database (Denmark)

The quality of the fish meat is dependent upon a wide range of biological and non-biological factors. In the present study it has been established that previous infections by Vibrio anguillarum in rainbow trout (Oncorhynchus mykiss) influence the quality of the fish meat (fillet) at slaughter more...... than after the fish have recovered from the infection. The texture of the fillet analysed by sensory analysis showed changes, which could be explained by previous tissue damage caused by the infection. These changes indicated formation of scars in affected tissue during the processes of tissue repair......, which gave rise to a more fibrous, tougher and flaky texture of the fillets....

AbobotulinumtoxinA Efficacy and Safety in Children With Equinus Foot Previously Treated With Botulinum Toxin.

Science.gov (United States)

Dabrowski, Edward; Bonikowski, Marcin; Gormley, Mark; Volteau, Magali; Picaut, Philippe; Delgado, Mauricio R

2018-05-01

The effects of botulinum toxin are transient, and repeat injections are required in children with lower-limb spasticity. However, the efficacy of botulinum toxin in patients who have received previous injections has remained largely unexplored. We present subgroup analyses of a phase III study conducted in ambulatory children (aged two to 17) with spastic equinus foot. Patients were randomized to single doses of abobotulinumtoxinA 10 U/kg/leg, 15 U/kg/leg, or placebo injected into the gastrocnemius-soleus complex (one or both legs). The first analysis was prespecified to review the effect of abobotulinumtoxinA in children previously treated with botulinum toxin versus those children new to the treatment; a second post hoc analysis evaluated the effect of abobotulinumtoxinA in children who changed botulinum toxin formulation. Of the 241 randomized patients, 113 had previously received botulinum toxin, including 86 who had been treated with another formulation. In both analyses, muscle tone (Modified Ashworth Scale) and the Physicians Global Assessment, at week 4, improved with abobotulinumtoxinA treatment versus placebo, regardless of baseline botulinum toxin status. Placebo responses in patients new to treatment were consistently higher than in the previously treated group. These results demonstrate similar abobotulinumtoxinA efficacy and safety profiles in children with spasticity who are new to botulinum toxin treatment and those children who were previously treated. The efficacy and safety of abobotulinumtoxinA treatment in these previously treated patients were comparable with the overall trial population, indicating that doses of 10 and 15 U/kg/leg are suitable starting doses for children with spasticity regardless of the previous botulinum toxin preparation used. Copyright © 2018 Elsevier Inc. All rights reserved.

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

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Roberto L. P. Mazzaschi

2014-01-01

Full Text Available A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

Evidence of separate karyotype evolutionary pathway in Euglossa orchid bees by cytogenetic analyses

OpenAIRE

FERNANDES, ANDERSON; WERNECK, HUGO A.; POMPOLO, SILVIA G.; LOPES, DENILCE M.

2013-01-01

Euglossini are solitary bees considered important pollinators of many orchid species. Information regarding chromosome organization is available for only a small number of species in this group. In the present work, the species Euglossa townsendi and E. carolina were analyzed by cytogenetic techniques to collect information that may aid the understanding of their evolution and chromosomal organization. The chromosome number found was n = 21 for males and 2n = 42 for females in the two species...

Karyotype Variability and Inter-Population Genomic Differences in Freshwater Ostracods (Crustacea Showing Geographical Parthenogenesis

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Radka Symonová

2018-03-01

Full Text Available Transitions from sexual to asexual reproduction are often associated with polyploidy and increased chromosomal plasticity in asexuals. We investigated chromosomes in the freshwater ostracod species Eucypris virens (Jurine, 1820, where sexual, asexual and mixed populations can be found. Our initial karyotyping of multiple populations from Europe and North Africa, both sexual and asexual, revealed a striking variability in chromosome numbers. This would suggest that chromosomal changes are likely to be accelerated in asexuals because the constraints of meiosis are removed. Hence, we employed comparative genomic hybridization (CGH within and among sexual and asexual populations to get insights into E. virens genome arrangements. CGH disclosed substantial genomic imbalances among the populations analyzed, and three patterns of genome arrangement between these populations: 1. Only putative ribosomal DNA (rDNA-bearing regions were conserved in the two populations compared indicating a high sequence divergence between these populations. This pattern is comparable with our findings at the interspecies level of comparison; 2. Chromosomal regions were shared by both populations to a varying extent with a distinct copy number variation in pericentromeric and presumable rDNA-bearing regions. This indicates a different rate of evolution in repetitive sequences; 3. A mosaic pattern of distribution of genomic material that can be explained as non-reciprocal genetic introgression and evidence of a hybrid origin of these individuals. We show an overall increased chromosomal dynamics in E. virens that is complementary with available phylogenetic and population genetic data reporting highly differentiated diploid sexual and asexual lineages with a wide variety of genetic backgrounds.

Genetic screening for infertility: When should it be done?

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Elda Kara

2010-07-01

Primary amenorrhea should be investigated by karyotype analysis and selected mutation screening according to the patient's clinical features. Karyotype analyses and FMR1 gene screening is recommended in cases of POF. At present the infertility of patients with POF cannot be restored if the diagnosis is made after complete follicular depletion, but in some cases, early diagnosis by genetic investigation may instead lead to the advice of early conception or oocyte harvesting and preservation. In addition, the accumulation and annotation of array comparative genomic hybridization data might, in the near future, lead to the identification of pathogenetic copy number variations and genes involved in POF. Karyotype analysis of both partners is recommended in all couples with recurrent pregnancy loss. No routine genetic test can be recommended so far in patients with PCOS.

Books average previous decade of economic misery.

Science.gov (United States)

Bentley, R Alexander; Acerbi, Alberto; Ormerod, Paul; Lampos, Vasileios

2014-01-01

For the 20(th) century since the Depression, we find a strong correlation between a 'literary misery index' derived from English language books and a moving average of the previous decade of the annual U.S. economic misery index, which is the sum of inflation and unemployment rates. We find a peak in the goodness of fit at 11 years for the moving average. The fit between the two misery indices holds when using different techniques to measure the literary misery index, and this fit is significantly better than other possible correlations with different emotion indices. To check the robustness of the results, we also analysed books written in German language and obtained very similar correlations with the German economic misery index. The results suggest that millions of books published every year average the authors' shared economic experiences over the past decade.

The unique karyotype of Henochilus wheatlandii, a critically endangered fish living in a fast-developing region in Minas Gerais State, Brazil.

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Priscilla C Silva

Full Text Available Henochilus wheatlandii, the only species of this genus, is critically endangered and was considered extinct for over a century. The rediscovery of this fish in 1996 made it possible to study its phylogenetic relationships with other species in the subfamily Bryconinae. The aim of this study was to characterise the karyotype of H. wheatlandii. Standard staining, C-positive heterochromatin and nucleolar organiser region (NOR banding, chromomycin A(3 staining, and fluorescent in situ hybridisation (FISH using 5S rDNA and 18S rDNA probes were conducted on nineteen specimens collected in the Santo Antonio River, a sub-basin of the Doce River in Ferros municipality, Minas Gerais State, Brazil. Henochilus wheatlandii shared the same diploid number and chromosome morphology as other species of Bryconinae. However, its heterochromatin distribution patterns, NOR localisation, and FISH patterns revealed a cytogenetic profile unique among Neotropical Bryconinae, emphasizing the evolutionary uniqueness of this threatened species.

Chromosomal stasis in distinct families of marine Percomorpharia from South Atlantic.

Science.gov (United States)

Paim, Fabilene Gomes; Almeida, Leandro Aragão da Hora; Affonso, Paulo Roberto Antunes de Mello; Sobrinho-Scudeler, Patrícia Elda; Oliveira, Claudio; Diniz, Débora

2017-01-01

The weakness of physical barriers in the marine environment and the dispersal potential of fish populations have been invoked as explanations of the apparent karyotype stasis of marine Percomorpha, but several taxa remain poorly studied cytogenetically. To increase the chromosomal data in this fish group, we analyzed cytogenetically three widespread Atlantic species from distinct families: Chaetodipterus faber Broussonet, 1782 (Ephippidae), Lutjanus synagris Linnaeus, 1758 (Lutjanidae) and Rypticus randalli Courtenay, 1967 (Serranidae). The three species shared a karyotype composed of 2n=48 acrocentric chromosomes, single nucleolus organizer regions (NORs) and reduced amounts of centromeric heterochromatin. A single NOR-bearing pair was identified in all species by physical mapping of 18S rDNA while non-syntenic 5S rRNA genes were located at centromeric region of a single pair. The similar karyotypic macrostructure observed in unrelated groups of Percomorpharia reinforces the conservative karyoevolution of marine teleosteans. Nonetheless, the species could be differentiated based on the pair bearing ribosomal cistrons, revealing the importance of microstructural analyses in species with symmetric and stable karyotypes.

B chromosomes are more frequent in mammals with acrocentric karyotypes: support for the theory of centromeric drive.

Science.gov (United States)

Palestis, Brian G; Burt, Austin; Jones, R Neil; Trivers, Robert

2004-02-07

The chromosomes of mammals tend to be either mostly acrocentric (having one long arm) or mostly bi-armed, with few species having intermediate karyotypes. The theory of centromeric drive suggests that this observation reflects a bias during female meiosis, favouring either more centromeres or fewer, and that the direction of this bias changes frequently over evolutionary time. B chromosomes are selfish genetic elements found in some individuals within some species. B chromosomes are often harmful, but persist because they drive (i.e. they are transmitted more frequently than expected). We predicted that species with mainly acrocentric chromosomes would be more likely to harbour B chromosomes than those with mainly bi-armed chromosomes, because female meiosis would favour more centromeres over fewer in species with one-armed chromosomes. Our results show that B chromosomes are indeed more common in species with acrocentric chromosomes, across all mammals, among rodents, among non-rodents and in a test of independent taxonomic contrasts. These results provide independent evidence supporting the theory of centromeric drive and also help to explain the distribution of selfish DNA across species. In addition, we demonstrate an association between the shape of the B chromosomes and the shape of the typical ('A') chromosomes.

Generation and multiplication of plantlets from callus derived from Haplopappus gracilus (Nutt.) Gray and their karyotype analysis

Science.gov (United States)

Kann, R. P.; O'Connor, S. A.; Levine, H. G.; Krikorian, A. D.

1991-01-01

Unopened flower heads of Haplopappus gracilis (2n = 4) provided primary explants for callus production and subsequent induction of organized growth. Callus was initiated from small (3-5 mm in length) floral buds with benzylaminopurine (BAP) (44.4 micromoles; 10 mg/l) and naphthalene acetic acid (NAA) (0.54 micromole; 0.1 mg/l). Lowering the BAP level to 4.44 micromoles (1 mg/l) but maintaining the NAA level, gave rise to organized but highly compressed shoot growing points from an otherwise undifferentiated callus mass. Shoots selected from such cultures were maintainable and could be proliferated by growing 1-1.5-cm stem tip cuttings on Murashige and Skoog basal medium (solidified with agar) containing 0.444 micromole (0.1 mg/l) BAP and 0.054 micromole (0.01 mg/l) NAA. The stem tip multiplication rates obtainable by these means permit reliable strategies for shoot multiplication or production of rooted plantlets. Prolonged subculture and maintenance of shoots on growth regulator-free medium leads to in vitro flowering and greatly reduces rooting capacity. Karyotype analysis of chromosomes from root tip cells at metaphase and chromosome measurements show that karyologically uniform plantlets (based on chromosome number and morphology) can be obtained.

Multipole analyses and photo-decay couplings at intermediate energies

International Nuclear Information System (INIS)

Workman, R.L.; Arndt, R.A.; Zhujun Li

1992-01-01

The authors describe the results of several multipole analyses of pion-photoproduction data to 2 GeV in the lab photon energy. Comparisons are made with previous analyses. The photo-decay couplings for the delta are examined in detail. Problems in the representation of photoproduction data are discussed, with an emphasis on the recent LEGS data. 16 refs., 4 tabs

Chromosome study of Anteaters (Myrmecophagideae, Xenarthra: a preliminary report

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Hélio Rubens Jacintho Pereira Júnior

2004-01-01

Full Text Available Anteaters belong to the Order Xenarthra / Family Myrmecophagidae and are the only members without teeth. There are three genera with four living species in the family Myrmecophagidae: Myrmecophaga tridactyla (giant anteater, Tamandua tetradactyla (southern lesser anteater, Tamandua mexicana (northern lesser anteater, and Cyclopes didactylus (silky anteater. The karyotypes of M. tridactyla (2n = 60, T. tetradactyla (2n = 54 and C. didactylus (2n = 64 have already been described. In the present paper, three female and two male specimens of giant anteater and one lesser anteater male were analyzed. The results indicate the existence of a new karyotype in the genus Tamandua, with 2n = 56 chromosomes, which can represent a new lesser anteater species. The karyotype of M. tridactyla was also described, supporting previous reports.

Karyomorphotypic variation in Eriospermum abyssinicum Baker ...

African Journals Online (AJOL)

family Eriospermaceae) was investigated through mitotic and meiotic studies. The chromosome complement was karyotypically analysed based on chromosome arm ratio and centromeric indices. The somatic chromosome complement of 2n ...

Books Average Previous Decade of Economic Misery

Science.gov (United States)

Bentley, R. Alexander; Acerbi, Alberto; Ormerod, Paul; Lampos, Vasileios

2014-01-01

For the 20th century since the Depression, we find a strong correlation between a ‘literary misery index’ derived from English language books and a moving average of the previous decade of the annual U.S. economic misery index, which is the sum of inflation and unemployment rates. We find a peak in the goodness of fit at 11 years for the moving average. The fit between the two misery indices holds when using different techniques to measure the literary misery index, and this fit is significantly better than other possible correlations with different emotion indices. To check the robustness of the results, we also analysed books written in German language and obtained very similar correlations with the German economic misery index. The results suggest that millions of books published every year average the authors' shared economic experiences over the past decade. PMID:24416159

Synopsis of recent moisture flux analyses relevant to the unsaturated zone at Area G

International Nuclear Information System (INIS)

Vold, E.

1998-03-01

This report summarizes selected recent analyses relevant to the assessment of the site performance for disposal facilities at Los Alamos (Area G) regarding unsaturated zone transport of moisture in liquid and vapor phases and the surface water balance. Much of the analyses methods have been reported previously but in several separate and detailed reports. These do not always reflect the overview possible with hindsight. The present report is an attempt to integrate the author's previous results into a cohesive whole. Due to project time constraints, this report is incomplete in some area. This report first reviews the basis for the Darcy flux analyses and its inherent uncertainties, as detailed in previous reports. Results from the previous works are then reviewed and discussed and in some cases, elaborated in an attempt for clarification. New results of the Darcy Flux Analyses are presented and discussed for Area G mesa top locations, nearby canyon locations and a second mesa top location (TA46 west of Area G). Select evapotranspiration and precipitation data from TA6 are presented and discussed. The conclusions section draws a picture of the hydrology which unifies the study results reported here and in previous reports for the undisturbed and disturbed site locations

Karyotypic differences and evolutionary tendencies of some species ...

Indian Academy of Sciences (India)

The cytological analyses of other related clonal cultures suggest an evolutionary transition from. S. pectinatus towards S. .... chronization of the algal cultures was carried out using the apparatus ..... Pest. und Scenedesmus bernardii G.M. Smith.

Twelve previously unknown phage genera are ubiquitous in global oceans.

Science.gov (United States)

Holmfeldt, Karin; Solonenko, Natalie; Shah, Manesh; Corrier, Kristen; Riemann, Lasse; Verberkmoes, Nathan C; Sullivan, Matthew B

2013-07-30

Viruses are fundamental to ecosystems ranging from oceans to humans, yet our ability to study them is bottlenecked by the lack of ecologically relevant isolates, resulting in "unknowns" dominating culture-independent surveys. Here we present genomes from 31 phages infecting multiple strains of the aquatic bacterium Cellulophaga baltica (Bacteroidetes) to provide data for an underrepresented and environmentally abundant bacterial lineage. Comparative genomics delineated 12 phage groups that (i) each represent a new genus, and (ii) represent one novel and four well-known viral families. This diversity contrasts the few well-studied marine phage systems, but parallels the diversity of phages infecting human-associated bacteria. Although all 12 Cellulophaga phages represent new genera, the podoviruses and icosahedral, nontailed ssDNA phages were exceptional, with genomes up to twice as large as those previously observed for each phage type. Structural novelty was also substantial, requiring experimental phage proteomics to identify 83% of the structural proteins. The presence of uncommon nucleotide metabolism genes in four genera likely underscores the importance of scavenging nutrient-rich molecules as previously seen for phages in marine environments. Metagenomic recruitment analyses suggest that these particular Cellulophaga phages are rare and may represent a first glimpse into the phage side of the rare biosphere. However, these analyses also revealed that these phage genera are widespread, occurring in 94% of 137 investigated metagenomes. Together, this diverse and novel collection of phages identifies a small but ubiquitous fraction of unknown marine viral diversity and provides numerous environmentally relevant phage-host systems for experimental hypothesis testing.

Cytophotometric and biochemical analyses of DNA in pentaploid and diploid Agave species.

Science.gov (United States)

Cavallini, A; Natali, L; Cionini, G; Castorena-Sanchez, I

1996-04-01

Nuclear DNA content, chromatin structure, and DNA composition were investigated in four Agave species: two diploid, Agave tequilana Weber and Agave angustifolia Haworth var. marginata Hort., and two pentaploid, Agave fourcroydes Lemaire and Agave sisalana Perrine. It was determined that the genome size of pentaploid species is nearly 2.5 times that of diploid ones. Cytophotometric analyses of chromatin structure were performed following Feulgen or DAPI staining to determine optical density profiles of interphase nuclei. Pentaploid species showed higher frequencies of condensed chromatin (heterochromatin) than diploid species. On the other hand, a lower frequency of A-T rich (DAPI stained) heterochromatin was found in pentaploid species than in diploid ones, indicating that heterochromatin in pentaploid species is made up of sequences with base compositions different from those of diploid species. Since thermal denaturation profiles of extracted DNA showed minor variations in the base composition of the genomes of the four species, it is supposed that, in pentaploid species, the large heterochromatin content is not due to an overrepresentation of G-C repetitive sequences but rather to the condensation of nonrepetitive sequences, such as, for example, redundant gene copies switched off in the polyploid complement. It is suggested that speciation in the genus Agave occurs through point mutations and minor DNA rearrangements, as is also indicated by the relative stability of the karyotype of this genus. Key words : Agave, DNA cytophotometry, DNA melting profiles, chromatin structure, genome size.

Over-representation of specific regions of chromosome 22 in cells from human glioma correlate with resistance to 1,3-bis(2-chloroethyl)-1-nitrosourea

International Nuclear Information System (INIS)

Hank, Nicole C; Shapiro, Joan Rankin; Scheck, Adrienne C

2006-01-01

Glioblastoma multiforme is the most malignant form of brain tumor. Despite treatment including surgical resection, adjuvant chemotherapy, and radiation, these tumors typically recur. The recurrent tumor is often resistant to further therapy with the same agent, suggesting that the surviving cells that repopulate the tumor mass have an intrinsic genetic advantage. We previously demonstrated that cells selected for resistance to 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) are near-diploid, with over-representation of part or all of chromosomes 7 and 22. While cells from untreated gliomas often have over-representation of chromosome 7, chromosome 22 is typically under-represented. We have analyzed cells from primary and recurrent tumors from the same patient before and after in vitro selection for resistance to clinically relevant doses of BCNU. Karyotypic analyses were done to demonstrate the genetic makeup of these cells, and fluorescent in situ hybridization analyses have defined the region(s) of chromosome 22 retained in these BCNU-resistant cells. Karyotypic analyses demonstrated that cells selected for BCNU resistance were near-diploid with over-representation of chromosomes 7 and 22. In cells where whole copies of chromosome 22 were not identified, numerous fragments of this chromosome were retained and inserted into several marker and derivative chromosomes. Fluorescent in situ hybridization analyses using whole chromosome paints confirmed this finding. Additional FISH analysis using bacterial artificial chromosome probes spanning the length of chromosome 22 have allowed us to map the over-represented region to 22q12.3–13.32. Cells selected for BCNU resistance either in vivo or in vitro retain sequences mapped to chromosome 22. The specific over-representation of sequences mapped to 22q12.3–13.32 suggest the presence of a DNA sequence important to BCNU survival and/or resistance located in this region of chromosome 22

不同颜色肉质萝卜核型分析研究%Karyotype Analysis of Radish(Raphanus sativus L.)with Different Freshy Colors

Institute of Scientific and Technical Information of China (English)

许江; 许冬梅; 姚启伦; 陈发波

2011-01-01

Thirty two radish(Raphanus sativus L. ) accessions with different flesh colors were used to analyze the karyotypes and the red pigment content for the first time. It showed that the red accessions with red flesh had a high red pigment content as high as 16. 21% on the average (ranging from 3. 4%o~28. 8%o) , and there existed significant differences in the red pigment content between accessions. With the same number of chromosomes (2n = 2x=18) the karyotype formulae of the red radish with red flesh,green radish with red flesh,white radish with red flesh, and white radish were 14m + 4sm, 16 tn + 2 sm,as well as 18m,and belonged to 2A,Lb,La,and 1 A, respectively. As all the accessions without satellites presented almost exclusively m and sm chromosomes,some changes in chromosome size and structure occurred but no great changes in chromosome morphology were obseved. Ranking of radish accessions based on the chromosomal a-symmetry index was in turn: the red radish with red flesh,green radish with red flesh,red radish with white flesh,and white radish. With respect to the karyotype evolution,the white flesh radish could be considered more ancestral than the red flesh accessions. In additon,it was deduced that the latter might be a variant of the former.%以红皮红心、绿皮红心、红皮白心和白皮白心4种不同肉质颜色的32份萝卜品种为材料,室内检测红色肉质萝卜的色素含量及镜检观测不同颜色肉质萝卜的核型.结果表明,供试红色肉质萝卜色素含量变幅为3.4‰～28.8％,基因型间存在显著差异.不同颜色肉质萝卜品种的染色体数目均为2n=2x=18,且未见随体,红皮红心萝卜核型公式为2n=2x=14m+4 sm,属于2A型,核不对称系数为59.28％；绿皮红心萝卜核型公式为2n=2 x=16m+2 sm,属于1B型；红皮白心萝卜核型公式为2 n=2 x=18 m,属于1A型；白皮白心萝卜核型公式为2 n=2x=16m+2sm,属于1A型.从核型进化看,红色肉质萝卜比白色肉质萝卜进化程度高,红色肉质萝卜可能是由白色肉质萝卜演化而来,据此推测,红色肉质萝卜可能是白色肉质萝卜的变种.

Elemental abundance analyses with coadded DAO spectrograms: Pt. 5

International Nuclear Information System (INIS)

Adelman, S.J.

1988-01-01

Elemental abundance analyses of three mercury-manganese stars were performed in a manner consistent with previous analyses of this series. A few correlations are found between the derived abundances and with the effective temperature in accordance with the expectations of radiative diffusion explanations of the derived abundances. The helium abundances are smaller than the value required to sustain the superficial helium convection zone in the atmospheres of these stars. (author)

Premature ovarian failure, short stature, and Hashimoto's disease in an 18-year-old adolescent girl with 46, X, i(X)(q10).

Science.gov (United States)

Hu, Xiang; Zhang, Qiao; Gao, Feng; Chen, Lu-Lu

2018-04-22

Premature ovarian failure (POF) is a heterogeneous condition affecting girls and women. We detected a previously healthy 18-year-old adolescent girl, presented with amenorrhea over six months, as well as circulating levels of estradiol lower decreased and follicle-stimulating hormone (FSH) increased. She was 138 cm tall. Results of laboratory tests and/or ultrasound investigations showed 46, X, i(X)(q10) karyotype and Hashimoto's disease. This case suggests that pubertal onset and progression, as well as karyotype analysis, should be evaluated in girls with Hashimoto's disease and short stature.

Evidence of genetic differentiation and karyotype evolution of the sedges Cyperus ligularis L. and C. odoratus L. (Cyperaceae

Directory of Open Access Journals (Sweden)

Geyner Alves dos Santos Cruz

2018-01-01

Full Text Available ABSTRACT The taxonomy of Cyperaceae is complex, with genera like Cyperus harboring species complexes. We analyzed the genetic similarity between Cyperus ligularis L. and C. odoratus L. based on DNA fingerprinting and cytogenetics. Significative genetic differentiation (G ST = 0.363 and low gene flow (N m = 0.877 indicated a clear genetic distinction between the two species. Moreover, the clustering analysis showed two distinct genetic groups, suggesting a lack of evidence for hybridization. The phenogram revealed two different lineages, and although all individuals of C. odoratus were collected from plots close to each other, they possessed greater genetic diversity than that observed among individuals of C. ligularis, which were sampled over a wider geographic range. Variation in chromosome number within the two species exhibited the opposite pattern, indicating greater karyotype stability in C. odoratus with 2n = 72 and 2n = 76, while the diploid number for C. ligularis varied from 2n = 66 to 88. The lower genetic variation in C. ligularis may be a result of the founder effect associated with seed dispersion and clonal reproduction. Field observations and analysis of reproductive biology should enrich the understanding of the genetic structure of the investigated populations and their role in successional processes.

Karyotypes, constitutive heterochromatin, and genomic DNA values in the blowfly genera Chrysomya, Lucilia, and Protophormia (Diptera: Calliphoridae).

Science.gov (United States)

Ullerich, Fritz-Helmut; Schöttke, Michael

2006-06-01

The karyotypes and C-banding patterns of Chrysomya species C. marginalis, C. phaonis, C. pinguis, C. saffranea, C. megacephala (New Guinean strain), Lucilia sericata, and Protophormia terraenovae are described. All species are amphogenic and have similar chromosome complements (2n = 12), including an XY-XX sex-chromosome pair varying in size and morphology between species. Additionally, the C-banding pattern of the monogenic species Chrysomya albiceps is presented. The DNA contents of these and of further species Chrysomya rufifacies, Chrysomya varipes, and Chrysomya putoria were assessed on mitotic metaphases by Feulgen cytophotometry. The average 2C DNA value of the male genomes ranged from 1.04 pg in C. varipes to 2.31 pg in C. pinguis. The DNA content of metaphase X chromosomes varied from 0.013 pg (= 1.23% of the total genome) in C. varipes to 0.277 pg (12.20%) in L. sericata; that of Y chromosomes ranged from 0.003 pg (0.27%) in C. varipes to 0.104 pg (5.59%) in L. sericata. In most species, the corresponding 5 large chromosome pairs showed similar relative DNA contents. The data suggest that the interspecific DNA differences in most species are mainly due to quantitative variation of (repetitive) sequences lying outside the centromeric heterochromatin blocks of the large chromosomes. The results are also discussed with regard to phylogenetic relationships of some species.

Chromosomal studies of five species of the marine fishes from the Paranaguá Bay and the karyotypic diversity in the marine teleostei of the Brazilian coast

Directory of Open Access Journals (Sweden)

Roger Raupp Cipriano

2008-04-01

Full Text Available In this study, five species of marine fishes from the Paranaguá Bay in the Brazilian coast were evaluated. Eucinostomus argenteus and Diapterus rhombeus (Gerreidae presented 48 chromosomes, all of which more acrocentric (FN = 48; Strongylura timucu and S. marina (Belonidae also presented 48 chromosomes, but with a higher karyotypic complexity than the Gerreidae, 10M+2SM+36A (FN = 60 and 4M+44A (FN = 52, respectively. The fifth species, Mugil curema (Mugilidae, different than the others, presented only 28 chromosomes 20M+4ST+4A (FN = 48. The species presented diversity in the karyotypic macro-structure, which should be relevant for the cytotaxonomy and the evolution of this group of the vertebrate.Nas últimas décadas tem ocorrido no Brasil um incremento de estudos cariotípicos em peixes marinhos. Atualmente são conhecidos os cariótipos de 118 espécies, distribuídas em 43 famílias e 80 gêneros. Foram estudadas cinco espécies de peixes marinhos do complexo estuarino da Baía de Paranaguá na costa brasileira. Eucinostomus argenteus e Diapterus rhombeus (Gerreidae, apresentaram 48 cromossomos todos acrocêntricos (NF = 48; Strongylura timucu e S. marina (Belonidae apresentaram 48 cromossomos, porém com complexidade cariotípica maior do que apresentada pelos gerreídeos, 10M+2SM+36A (NF = 60 e 4M+44A (NF = 52, respectivamente. A quinta espécie, Mugil curema (Mugilidae, ao contrário das outras quatro espécies aqui analisadas, apresentou apenas 28 cromossomos 20M+4ST+4A (NF = 48. Apesar da tendência em se verificar um cariótipo constituído por 48 cromossomos em teleósteos marinhos, as espécies aqui analisadas apresentam uma diversidade para a macroestrutura cariotípica a ser considerada para a citotaxonomia e evolução desse grupo de vertebrados.

Estimating the effect of current, previous and never use of drugs in studies based on prescription registries

DEFF Research Database (Denmark)

Nielsen, Lars Hougaard; Løkkegaard, Ellen; Andreasen, Anne Helms

2009-01-01

of this misclassification for analysing the risk of breast cancer. MATERIALS AND METHODS: Prescription data were obtained from Danish Registry of Medicinal Products Statistics and we applied various methods to approximate treatment episodes. We analysed the duration of HT episodes to study the ability to identify......PURPOSE: Many studies which investigate the effect of drugs categorize the exposure variable into never, current, and previous use of the study drug. When prescription registries are used to make this categorization, the exposure variable possibly gets misclassified since the registries do...... not carry any information on the time of discontinuation of treatment.In this study, we investigated the amount of misclassification of exposure (never, current, previous use) to hormone therapy (HT) when the exposure variable was based on prescription data. Furthermore, we evaluated the significance...

Spreading of heterochromatin and karyotype differentiation in two Tropidacris Scudder, 1869 species (Orthoptera, Romaleidae)

Science.gov (United States)

Rocha, Marília de França; Pine, Mariana Bozina; Oliveira, Elizabeth Felipe Alves dos Santos; Loreto, Vilma; Gallo, Raquel Bozini; da Silva, Carlos Roberto Maximiano; de Domenico, Fernando Campos; da Rosa, Renata

2015-01-01

Abstract Tropidacris Scudder, 1869 is a genus widely distributed throughout the Neotropical region where speciation was probably promoted by forest reduction during the glacial and interglacial periods. There are no cytogenetic studies of Tropidacris, and information allowing inference or confirmation of the evolutionary events involved in speciation within the group is insufficient. In this paper, we used cytogenetic markers in two species, Tropidacris collaris (Stoll, 1813) and Tropidacris cristata grandis (Thunberg, 1824), collected in different Brazilian biomes. Both species exhibited 2n=24,XX for females and 2n=23,X0 for males. All chromosomes were acrocentric. There were some differences in the karyotype macrostructure, e.g. in the chromosome size. A wide interspecific variation in the chromosome banding (C-banding and CMA3/DAPI staining) indicated strong differences in the distribution of repetitive DNA sequences. Specifically, Tropidacris cristata grandis had a higher number of bands in relation to Tropidacris collaris. FISH with 18S rDNA revealed two markings coinciding with the NORs in both species. However, two analyzed samples of Tropidacris collaris revealed a heterozygous condition for the rDNA site of S10 pair. In Tropidacris collaris, the histone H3 genes were distributed on three chromosome pairs, whereas in Tropidacris cristata grandis, these genes were observed on 14 autosomes and on the X chromosome, always in terminal regions. Our results demonstrate that, although the chromosome number and morphology are conserved in the genus, Tropidacris cristata grandis substantially differs from Tropidacris collaris in terms of the distribution of repetitive sequences. The devastation and fragmentation of the Brazilian rainforest may have led to isolation between these species, and the spreading of these repetitive sequences could contribute to speciation within the genus. PMID:26312132

Spreading of heterochromatin and karyotype differentiation in two Tropidacris Scudder, 1869 species (Orthoptera, Romaleidae

Directory of Open Access Journals (Sweden)

Marília de França Rocha

2015-07-01

Full Text Available Tropidacris Scudder, 1869 is a genus widely distributed throughout the Neotropical region where speciation was probably promoted by forest reduction during the glacial and interglacial periods. There are no cytogenetic studies of Tropidacris, and information allowing inference or confirmation of the evolutionary events involved in speciation within the group is insufficient. In this paper, we used cytogenetic markers in two species, T. collaris (Stoll, 1813 and T. cristata grandis (Thunberg, 1824, collected in different Brazilian biomes. Both species exhibited 2n=24,XX for females and 2n=23,X0 for males. All chromosomes were acrocentric. There were some differences in the karyotype macrostructure, e.g. in the chromosome size. A wide interspecific variation in the chromosome banding (C-banding and CMA3/DAPI staining indicated strong differences in the distribution of repetitive DNA sequences. Specifically, T. cristata grandis had a higher number of bands in relation to T. collaris. FISH with 18S rDNA revealed two markings coinciding with the NORs in both species. However, two analyzed samples of T. collaris revealed a heterozygous condition for the rDNA site of S10 pair. In T. collaris, the histone H3 genes were distributed on three chromosome pairs, whereas in T. cristata grandis, these genes were observed on 14 autosomes and on the X chromosome, always in terminal regions. Our results demonstrate that, although the chromosome number and morphology are conserved in the genus, T. cristata grandis substantially differs from T. collaris in terms of the distribution of repetitive sequences. The devastation and fragmentation of the Brazilian rainforest may have led to isolation between these species, and the spreading of these repetitive sequences could contribute to speciation within the genus.

Aortic dilatation in patients with Turner's syndrome without structural cardiac anomaly.

Science.gov (United States)

Alami Laroussi, Nassiba; Dahdah, Nagib; Dallaire, Frédéric; Thérien, Johanne; Fournier, Anne

2016-03-01

Dilatation of the ascending aorta is described in Turner's syndrome with variable prevalence (6.8-32%). Reported series typically include patients with associated cardiac anomalies. To characterise the prevalence, age of onset, and the progress of dilatation of the ascending aorta in Turner's syndrome patients free of structural cardiac anomalies. Potential risk factors such as karyotype and growth hormone therapy were analysed for correlation with aortic dilatation. We carried out a retrospective study with data collected from medical records and echocardiography studies. Patients with Tuner's syndrome followed-up between 1992 and 2010 with at least two echocardiography studies were eligible. Patients with previous cardiac surgery or under anti-hypertensive medication were excluded. Ascending aorta diameter measurements were adjusted for body surface area, and dilatation was defined as Z-score>2. The study population consisted of 44 patients, aged 11.9±7.4 years at the first echocardiogram and 17.9±7.3 years at the last follow-up, with a follow-up duration of 6.0±3.7 years. A total of 13 (29.5%) patients exhibited aortic dilatation during follow-up, suggesting an actuarial estimate of the freedom from aortic dilatation dropping from 86 to 70% and then to 37% at 10, 20, and 30 years of age, respectively. There was no statistically significant impact of karyotype or growth hormone therapy on aortic Z-score progression. The prevalence of dilatation of the ascending aorta in Turner's syndrome patients free of structural aortic anomalies is comparable with published data with associated lesions. Growth hormone therapy and karyotype had no significant impact; however, longitudinal follow-up is warranted.

Identification of a New Mullet Species Complex Based on an Integrative Molecular and Cytogenetic Investigation of Mugil hospes (Mugilidae: Mugiliformes).

Science.gov (United States)

Nirchio, Mauro; Paim, Fabilene G; Milana, Valentina; Rossi, Anna R; Oliveira, Claudio

2018-01-01

Mullets are very common fishes included in the family Mugilidae, (Mugiliformes), which are characterized by both a remarkably uniform external morphology and internal anatomy. Recently, within this family, different species complexes were molecularly identified within Mugil , a genus which is characterized by lineages that sometimes show very different karyotypes. Here we report the results of cytogenetic and molecular analyses conducted on Mugil hospes , commonly known as the hospe mullet, from Ecuador. The study aims to verify whether the original described species from the Pacific Ocean corresponds to that identified in the Atlantic Ocean, and to identify species-specific chromosome markers that can add new comparative data about Mugilidae karyotype evolution. The karyotype of M. hospes from Ecuador is composed of 48 acrocentric chromosomes and shows two active nucleolar organizer regions (NORs). In situ hybridization, using different types of repetitive sequences (rDNAs, U1 snDNA, telomeric repeats) as probes, identified species-specific chromosome markers that have been compared with those of other species of the genus Mugil . Cytochrome c oxidase subunit I (COI) sequence analysis shows only 92-93% similarity with sequences previously deposited under this species name in GenBank, all of which were from the Atlantic Ocean. Phylogenetic reconstructions indicate the presence of three well-supported hospe mullet lineages whose molecular divergence is compatible with the presence of distinct species. Indeed, the first lineage includes samples from Ecuador, whereas the other two lineages include the Atlantic samples and correspond to M. brevirostris from Brazil and Mugil sp. R from Belize/Venezuela. Results here provided reiterate the pivotal importance of an integrative molecular and cytogenetic approach in the reconstruction of the relationships within Mugilidae.

Evaluating genome-wide DNA methylation changes in mice by Methylation Specific Digital Karyotyping

Directory of Open Access Journals (Sweden)

Maruoka Shuichiro

2008-12-01

Full Text Available Abstract Background The study of genome-wide DNA methylation changes has become more accessible with the development of various array-based technologies though when studying species other than human the choice of applications are limited and not always within reach. In this study, we adapted and tested the applicability of Methylation Specific Digital Karyotyping (MSDK, a non-array based method, for the prospective analysis of epigenetic changes after perinatal nutritional modifications in a mouse model of allergic airway disease. MSDK is a sequenced based method that allows a comprehensive and unbiased methylation profiling. The method generates 21 base pairs long sequence tags derived from specific locations in the genome. The resulting tag frequencies determine in a quantitative manner the methylation level of the corresponding loci. Results Genomic DNA from whole lung was isolated and subjected to MSDK analysis using the methylation-sensitive enzyme Not I as the mapping enzyme and Nla III as the fragmenting enzyme. In a pair wise comparison of the generated mouse MSDK libraries we identified 158 loci that are significantly differentially methylated (P-value = 0.05 after perinatal dietary changes in our mouse model. Quantitative methylation specific PCR and sequence analysis of bisulfate modified genomic DNA confirmed changes in methylation at specific loci. Differences in genomic MSDK tag counts for a selected set of genes, correlated well with changes in transcription levels as measured by real-time PCR. Furthermore serial analysis of gene expression profiling demonstrated a dramatic difference in expressed transcripts in mice exposed to perinatal nutritional changes. Conclusion The genome-wide methylation survey applied in this study allowed for an unbiased methylation profiling revealing subtle changes in DNA methylation in mice maternally exposed to dietary changes in methyl-donor content. The MSDK method is applicable for mouse models

Survival after early-stage breast cancer of women previously treated for depression

DEFF Research Database (Denmark)

Suppli, Nis Frederik Palm; Johansen, Christoffer; Kessing, Lars Vedel

2017-01-01

treatment of depression and risk of receiving nonguideline treatment of breast cancer were assessed in multivariable logistic regression analyses. We compared the overall survival, breast cancer-specific survival, and risk of death by suicide of women who were and were not treated for depression before......Purpose The aim of this nationwide, register-based cohort study was to determine whether women treated for depression before primary early-stage breast cancer are at increased risk for receiving treatment that is not in accordance with national guidelines and for poorer survival. Material...... and Methods We identified 45,325 women with early breast cancer diagnosed in Denmark from 1998 to 2011. Of these, 744 women (2%) had had a previous hospital contact (as an inpatient or outpatient) for depression and another 6,068 (13%) had been treated with antidepressants. Associations between previous...

Nuclear thermal rocket clustering: 1, A summary of previous work and relevant issues

International Nuclear Information System (INIS)

Buksa, J.J.; Houts, M.G.

1991-01-01

A general review of the technical merits of nuclear thermal rocket clustering is presented. A summary of previous analyses performed during the Rover program is presented and used to assess clustering in the context of projected Space Exploration Initiative missions. A number of technical issues are discussed including cluster reliability, engine-out operation, neutronic coupling, shutdown core power generation, shutdown reactivity requirements, reactor kinetics, and radiation shielding. 7 refs., 3 figs., 2 tabs

Impact of vocational interests, previous academic experience, gender and age on Situational Judgement Test performance.

Science.gov (United States)

Schripsema, Nienke R; van Trigt, Anke M; Borleffs, Jan C C; Cohen-Schotanus, Janke

2017-05-01

Situational Judgement Tests (SJTs) are increasingly implemented in medical school admissions. In this paper, we investigate the effects of vocational interests, previous academic experience, gender and age on SJT performance. The SJT was part of the selection process for the Bachelor's degree programme in Medicine at University of Groningen, the Netherlands. All applicants for the academic year 2015-2016 were included and had to choose between learning communities Global Health (n = 126), Sustainable Care (n = 149), Intramural Care (n = 225), or Molecular Medicine (n = 116). This choice was used as a proxy for vocational interest. In addition, all graduate-entry applicants for academic year 2015-2016 (n = 213) were included to examine the effect of previous academic experience on performance. We used MANCOVA analyses with Bonferroni post hoc multiple comparisons tests for applicant performance on a six-scenario SJT. The MANCOVA analyses showed that for all scenarios, the independent variables were significantly related to performance (Pillai's Trace: 0.02-0.47, p performance on three scenarios (p performance on two scenarios (p performance, as was previous academic experience. Gender and age were related to performance on SJT scenarios in different settings. Especially the first effect might be helpful in selecting appropriate candidates for areas of health care in which more professionals are needed.

Treatment response with mepolizumab in severe eosinophilic asthma patients with previous omalizumab treatment.

Science.gov (United States)

Magnan, A; Bourdin, A; Prazma, C M; Albers, F C; Price, R G; Yancey, S W; Ortega, H

2016-09-01

We performed post hoc analyses to evaluate the effect of humanized monoclonal antibody mepolizumab in patients with severe eosinophilic asthma previously treated with omalizumab. Data were collected from two randomized double-blind, placebo-controlled studies: MENSA (NCT01691521: 32-week treatment phase) and SIRIUS (NCT01691508: 24-week treatment phase). Active treatment was 75 mg intravenous mepolizumab (MENSA) or 100 mg subcutaneous mepolizumab (MENSA, SIRIUS). Patients had evidence of eosinophilic inflammation ≥150 cells/μl (at screening) or ≥300 cells/μl (during the previous year). Primary outcomes were the rate of exacerbations (MENSA) and the percentage reduction in oral corticosteroid (OCS) dose (SIRIUS). Other outcomes included lung function (forced expiratory volume in 1 s and morning peak expiratory flow), Asthma Control Questionnaire (ACQ-5), St George's Respiratory Questionnaire (SGRQ) scores, and safety. Overall, 576 patients were included from MENSA and 135 from SIRIUS, with 13% and 33% previously receiving omalizumab, respectively. In MENSA, mepolizumab reduced the rate of exacerbations by 57% (prior omalizumab) and 47% (no prior omalizumab) vs placebo. In SIRIUS, reductions in OCS use were comparable regardless of prior omalizumab use. Despite reducing chronic OCS use, mepolizumab also resulted in similar reductions in exacerbation rate relative to placebo in both subgroups. Asthma control and quality of life improved with mepolizumab vs placebo in both studies independent of prior omalizumab use, as shown by ACQ-5 and SGRQ scores. Adverse events were also comparable irrespective of prior omalizumab use. These post hoc analyses indicate that patients with severe eosinophilic asthma respond positively to mepolizumab regardless of prior use of omalizumab. © 2016 The Authors. Allergy Published by John Wiley & Sons Ltd.

Elemental abundance analyses with coadded Dominion Astrophysical Observatory spectrograms: Pt. 3

International Nuclear Information System (INIS)

Adelman, S.J.

1988-01-01

Elemental abundance analyses were performed for three superficially normal main-sequence stars θ Leonis (A2V), τ Herculus (B5IV) and ο Pegasi (AlIV). These studies used coadded spectrograms produced from at least 12 2.4 A mm -1 IIaO Dominion Astrophysical Observatory spectrograms and show a greater degree of internal consistency and smaller microturbulent velocities than previous studies of these stars which used lower signal-to-noise data. Many lines not previously seen were identified including some of new atomic species whose analysis provide a more complete picture of the elemental abundances. The identification and analysis of La II lines in ο Peg link this star more closely with the classical metallic-lined (Am) stars, although there are considerable differences in abundances. Some of θ Leo's elemental abundances, particularly those of vanadium, strontium, and zirconium, are significantly different from solar in confirmation of previous analyses. τ Her's elemental abundances are typically a factor of 2 less than solar. (author)

Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes

DEFF Research Database (Denmark)

Aksglaede, L.; Skakkebaek, N.E.; Juul, A.

2008-01-01

CONTEXT: Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles. AIM: The aim of the study was to evaluate the role of abnormal chromosome constitution for longitu......CONTEXT: Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles. AIM: The aim of the study was to evaluate the role of abnormal chromosome constitution...... and sitting height, serum levels of reproductive hormones, IGF-I, and IGFBP-3 were measured. RESULTS: In boys with 47,XXY and 47,XYY karyotypes, growth was accelerated already in childhood, compared with healthy boys. 46,XX-males were significantly shorter than healthy boys but matched the stature of healthy...... and elevated LH levels after puberty, whereas the sex hormone secretion of the 47,XYY boys remained normal. CONCLUSION: We found accelerated growth in early childhood in boys with 47,XXY and 47,XYY karyotypes, whereas 46,XX-males were shorter than controls. These abnormal growth patterns were not reflected...

Comparative cytogenetics of hamsters of the genus Calomyscus.

Science.gov (United States)

Graphodatsky, A S; Sablina, O V; Meyer, M N; Malikov, V G; Isakova, E A; Trifonov, V A; Polyakov, A V; Lushnikova, T P; Vorobieva, N V; Serdyukova, N A; Perelman, P L; Borodin, P M; Benda, P; Frynta, D; Leikepová, L; Munclinger, P; Piálek, J; Sádlová, J; Zima, J

2000-01-01

Karyotypes of Calomyscus from different regions of Turkmenistan, Iran, and Azerbaijan were studied using chromosome banding (G- and C-banding) and analyses of meiosis in laboratory hybrids. Extensive variation in the diploid number and the number of autosomal arms (FNa) was revealed (2n = 30, FNa = 44; 2n = 32, FNa = 42; 2n = 44, FNa = 46; 2n = 44, FNa = 58; 2n = 37, FNa = 44; 2n = 50, FNa = 50; 2n = 52, FNa = 56). Centric and tandem fusions and heterochromatin changes were identified as the major modes of karyotype evolution in this group. Natural hybrids between individuals with different karyotypes were recorded, and regular chromosome pairing in meiosis was observed in laboratory hybrids. Fluorescence in situ hybridization with a 353-bp BspRI complex tandem repeat indicated that chromosomal repatterning occurred recently within the genus. There is no unequivocal evidence suggesting the role of chromosomal change in the speciation of the populations of Calomyscus examined. Copyright 2000 S. Karger AG, Basel

Chromosome aberrations in F1 from irradiated male mice studied by their synaptonemal complexes

International Nuclear Information System (INIS)

Kalikinskaya, E.I.; Kolomiets, O.L.; Shevchenko, V.A.; Bogdanov, Yu.F.

1986-01-01

Possible implications of surface-spread synaptonemal complex (SC) karyotyping in analysing the causes of sterility of F 1 from irradiated male mice are demonstrated in this work. After irradiation by 137 Cs γ-rays at a dose of 5 Gy the males were mated to unirradiated females and genetic analysis of fertility in the F 1 progeny was carried out. Males with abnormal fertility were examined for the presence of chromosome aberrations in diakinesis-metaphase I and in pachytene by the method of surface-spread SC karyotyping. In most cases, SC karyotyping provides additional information and permits the detection and analysis of aberrations that are not revealed in diakinesis. Two reciprocal translocations, one X autosomal and one nonreciprocal translocation were discovered in five F 1 males studied. It is concluded that the method is efficient in detecting translocations in pachytene in partially fertile F 1 hybrids of irradiated and normal mice. (orig.)

HLA region excluded by linkage analyses of early onset periodontitis

Energy Technology Data Exchange (ETDEWEB)

Sun, C.; Wang, S.; Lopez, N.

1994-09-01

Previous studies suggested that HLA genes may influence susceptibility to early-onset periodontitis (EOP). Segregation analyses indicate that EOP may be due to a single major gene. We conducted linkage analyses to assess possible HLA effects on EOP. Fifty families with two or more close relatives affected by EOP were ascertained in Virginia and Chile. A microsatellite polymorphism within the HLA region (at the tumor necrosis factor beta locus) was typed using PCR. Linkage analyses used a donimant model most strongly supported by previous studies. Assuming locus homogeneity, our results exclude a susceptibility gene within 10 cM on either side of our marker locus. This encompasses all of the HLA region. Analyses assuming alternative models gave qualitatively similar results. Allowing for locus heterogeneity, our data still provide no support for HLA-region involvement. However, our data do not statistically exclude (LOD <-2.0) hypotheses of disease-locus heterogeneity, including models where up to half of our families could contain an EOP disease gene located in the HLA region. This is due to the limited power of even our relatively large collection of families and the inherent difficulties of mapping genes for disorders that have complex and heterogeneous etiologies. Additional statistical analyses, recruitment of families, and typing of flanking DNA markers are planned to more conclusively address these issues with respect to the HLA region and other candidate locations in the human genome. Additional results for markers covering most of the human genome will also be presented.

Techniques for Scaling Up Analyses Based on Pre-interpretations

DEFF Research Database (Denmark)

Gallagher, John Patrick; Henriksen, Kim Steen; Banda, Gourinath

2005-01-01

a variety of analyses, both generic (such as mode analysis) and program-specific (with respect to a type describing some particular property of interest). Previous work demonstrated the approach using pre-interpretations over small domains. In this paper we present techniques that allow the method...

Aberrations of chromosome 8 in myelodysplastic syndromes: Clinical and biological significance

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Marisavljević Dragomir

2006-01-01

Full Text Available Introduction: Rearrangements of any single chromosome in human karyotype have been reported in patients with pMDS. Objective: To examine the role of aberrations of chromosome 8 in pathogenesis, clinical presentation and progression of myelodysplastic syndromes. Method: Cytogenetic analysis of bone marrow cells was carried out by direct method and by means of 24- and/or 48-hour unstimulated cell culture. Chromosomes were obtained by modified method of HG-bands. Results: On presentation, 109 out of 271 successfully karyotyped patients (40,2% had abnormal karyotypes. Among them, 22 patients (10.9% had aberrations of chromosome 8. Ten patients had trisomy 8 as "simple" aberration whilst additional three cases had trisomy 8 included in "complex" karyotypes (≥3 chromosomes. Cases with constitutional trisomy 8 mosaicism (CT8M were excluded using the chromosome analyses of PHA-stimulated blood cultures. On the contrary, monosomy (seven patients or deletion of chromosome 8 (two patients were exclusively found in "complex" karyotypes. During prolonged cytogenetic follow-up, trisomy 8 was not recorded in evolving karyotypes. In contrast, trisomy 8 disappeared in two cases during subsequent cytogenetic studies, i.e. 23 and 72 months from diagnosis, accompanied in one patient with complete hematological remission. No difference regarding age, sex, cytopenia, blood and marrow blast count or response to treatment was found between patients with trisomy 8 as the sole aberration compared to those with normal cytogenetics. Median survival of patients with trisomy 8 as the sole aberration was 27 months, as compared to 32 months in patients with normal cytogenetics (p=0.468, whilst median survival of patients with aberrations of chromosome 8 included in "complex" karyotypes was only 4 months. Conclusion: Aberrations of chromosome 8 are common in patients with pMDS. The presence of a clone with trisomy 8 is not always the sign of disease progression or poor

Extensive fragmentation of the X chromosome in the bed bug Cimex lectularius Linnaeus, 1758 (Heteroptera, Cimicidae: a survey across Europe

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David Sadílek

2013-10-01

Full Text Available Variation in the number of chromosomes was revealed in 61 samples of Cimex lectularius Linnaeus, 1758 from the Czech Republic and other European countries, hosted on Myotis Kaup, 1829 (4 and Homo sapiens Linnaeus, 1758 (57. The karyotype of all the specimens of C. lectularius analysed contained 26 autosomes and a varying number of the sex chromosomes. The number of sex chromosomes showed extensive variation, and up to 20 fragments were recorded. Altogether, 12 distinct karyotypes were distinguished. The male karyotypes consisted of 29, 30, 31, 32, 33, 34, 35, 36, 37, 40, 42 and 47 chromosomes. The females usually exhibited the number of chromosomes which was complementary to the number established in the males from the same sample. However, 11 polymorphic samples were revealed in which the karyotypes of females and males were not complementary each other. The complement with 2n = 26+X1X2Y was found in 44% of the specimens and 57,4% samples of bed bugs studied. The karyotypes with higher chromosome numbers as well as individuals with chromosomal mosaics were usually found within the samples exhibiting particularly extensive variation between individuals, and such complements were not found within samples contaning a few or single specimen. The occurrence of chromosomal mosaics with the karyotype constitution varying between cells of single individual was observed in five specimens (4.3% from five samples. We assume that polymorphism caused by fragmentation of the X chromosome may result in meiotic problems and non-disjunction can produce unbalanced gametes and result in lowered fitness of individuals carrying higher numbers of the X chromosome fragments. This effect should be apparently enhanced with the increasing number of the fragments and this may be the reason for the observed distribution pattern of individual karyotypes in the studied samples and the rarity of individuals with extremely high chromosome numbers. The assumed lowering of the

Distribution and origin of chromosomal races in the freshwater planarian Dugesia polychroa (Turbellaria : Tricladida)

NARCIS (Netherlands)

Beukeboom, Leo W.; Weinzierl, Rolf P.; Reed, Kent M.; Michiels, Nico K.

1996-01-01

We present a karyotypic survey of the European freshwater planarian Dugesia polychroa, detailing frequencies of diploid and polyploid forms from 35 localities in seven countries. In this hermaphroditic species, diploids reproduce sexually and polyploids by pseudogamous parthenogenesis. Previous

Adverse obstetric outcomes in women with previous cesarean for dystocia in second stage of labor.

Science.gov (United States)

Jastrow, Nicole; Demers, Suzanne; Gauthier, Robert J; Chaillet, Nils; Brassard, Normand; Bujold, Emmanuel

2013-03-01

To evaluate obstetric outcomes in women undergoing a trial of labor (TOL) after a previous cesarean for dystocia in second stage of labor. A retrospective cohort study of women with one previous low transverse cesarean undergoing a first TOL was performed. Women with previous cesarean for dystocia in first stage and those with previous dystocia in second stage were compared with those with previous cesarean for nonrecurrent reasons (controls). Multivariable regressions analyses were performed. Of 1655 women, those with previous dystocia in second stage of labor (n = 204) had greater risks than controls (n = 880) to have an operative delivery [odds ratio (OR): 1.5; 95% confidence intervals (CI) 1.1 to 2.2], shoulder dystocia (OR: 2.9; 95% CI 1.1 to 8.0), and uterine rupture in the second stage of labor (OR: 4.9; 95% CI 1.1 to 23), and especially in case of fetal macrosomia (OR: 29.6; 95% CI 4.4 to 202). The median second stage of labor duration before uterine rupture was 2.5 hours (interquartile range: 1.5 to 3.2 hours) in these women. Previous cesarean for dystocia in the second stage of labor is associated with second-stage uterine rupture at next delivery, especially in cases of suspected fetal macrosomia and prolonged second stage of labor. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Analyses of transient plant response under emergency situations. 2

International Nuclear Information System (INIS)

Koyama, Kazuya; Hishida, Masahiko

2000-03-01

In order to support development of the dynamic reliability analysis program DYANA, analyses were made on the event sequences anticipated under emergency situations using the plant dynamics simulation computer code Super-COPD. In this work 9 sequences were analyzed and integrated into an input file for preparing the functions for DYANA using the analytical model and input data which developed for Super-COPD in the previous work. These sequences could not analyze in the previous work, which were categorized into the PLOHS (Protected Loss of Heat Sink) event. (author)

Reappraisal of Rhamdia branneri Haseman, 1911 and R. voulezi Haseman, 1911 (Siluriformes: Heptapteridae from the rio Iguaçu with notes on their morphometry and karyotype

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Julio Cesar Garavello

Full Text Available ABSTRACT The species Rhamdia branneri Haseman, 1911 and the subspecies Rhamdia branneri voulezi Haseman, 1911 from rio Iguaçu are currently recognized as synonyms of Rhamdia quelen (Quoy & Gaimard, 1824. However, recent karyotype and ecomorphology studies distinguish R. branneri and R. voulezi as different species. Examination of Rhamdia populations from rio Iguaçu, including type specimens, together with other congeners from rio Tibagi, allowed to properly reexamine the situation of these Haseman's taxa and references given to Rhamdia in the Iguaçu. The species R. branneri and R. voulezi have strong serrae with large basis on both margins of the pectoral-fin spine, uncommon in the remaining species of Rhamdia and different from the fine serrate margins of the pectoral spine of R. quelen ; a regular dorsal profile, slightly curved between supraoccipital and dorsal fin; with dorsal dark-brown or light-gray coloration along body, abdomen pale, without profuse small black spots, common in populations of the upper Paraná species and the type-material of R. quelen . Also the following morphometric characters discriminate these species: Rhamdia voulezi , adipose fin elongate; smaller distance between dorsal and adipose fin; smaller length between adipose fin to base of caudal fin and smaller distance from posterior margin of eye to opercular border. Rhamdia branneri , larger distance from dorsal and adipose fins; deeper caudal peduncle; higher trunk depth in the vertical distance through adipose, between pelvic and anal fins; larger scapular bridge; shorter maxillary barbel; shorter external mental barbel; shorter interorbital distance; shorter length of dorsal fin basis and shorter adipose-fin base length. A PCA between the populations of Rhamdia from Iguaçu and a population from rio Tibagi, upper Paraná basin, discriminates the population from Tibagi on basis of dorsal to adipose fin distance, dorsal-fin spine length, maxillary barbel length

New hybrids between Saccharomyces sensu stricto yeast species found among wine and cider production strains

DEFF Research Database (Denmark)

Masneuf, I; Hansen, J.; Groth, C

1998-01-01

Two yeast isolates, a wine-making yeast first identified as a Mel(+) strain (ex. S. uvarum) and a cider-making yeast, were characterized for their nuclear and mitochondrial genomes, Electrophoretic karyotyping analyses, restriction fragment length polymorphism maps of PCR-amplified MET2 gene...

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Mitotic and meiotic chromosomes of several populations of Eurysternus caribaeus (Coleoptera: Scarabaeidae) were analysed through conventional staining, C-banding, base-specific fluorochromes, silver nitrate staining and fluorescent in situ hybridization (FISH). All specimens showed 2 n = 8 in their karyotypes, with a ...

Concurrent insulinoma with mosaic Turner syndrome: A case report.

Science.gov (United States)

Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

2015-03-01

Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

Identification of a New Mullet Species Complex Based on an Integrative Molecular and Cytogenetic Investigation of Mugil hospes (Mugilidae: Mugiliformes

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Mauro Nirchio

2018-02-01

Full Text Available Mullets are very common fishes included in the family Mugilidae, (Mugiliformes, which are characterized by both a remarkably uniform external morphology and internal anatomy. Recently, within this family, different species complexes were molecularly identified within Mugil, a genus which is characterized by lineages that sometimes show very different karyotypes. Here we report the results of cytogenetic and molecular analyses conducted on Mugil hospes, commonly known as the hospe mullet, from Ecuador. The study aims to verify whether the original described species from the Pacific Ocean corresponds to that identified in the Atlantic Ocean, and to identify species-specific chromosome markers that can add new comparative data about Mugilidae karyotype evolution. The karyotype of M. hospes from Ecuador is composed of 48 acrocentric chromosomes and shows two active nucleolar organizer regions (NORs. In situ hybridization, using different types of repetitive sequences (rDNAs, U1 snDNA, telomeric repeats as probes, identified species-specific chromosome markers that have been compared with those of other species of the genus Mugil. Cytochrome c oxidase subunit I (COI sequence analysis shows only 92–93% similarity with sequences previously deposited under this species name in GenBank, all of which were from the Atlantic Ocean. Phylogenetic reconstructions indicate the presence of three well-supported hospe mullet lineages whose molecular divergence is compatible with the presence of distinct species. Indeed, the first lineage includes samples from Ecuador, whereas the other two lineages include the Atlantic samples and correspond to M. brevirostris from Brazil and Mugil sp. R from Belize/Venezuela. Results here provided reiterate the pivotal importance of an integrative molecular and cytogenetic approach in the reconstruction of the relationships within Mugilidae.

Identification of distinct evolutionary units in allopatric populations of Hypostomus cf. wuchereri Günther, 1864 (Siluriformes: Loricariidae: karyotypic evidence

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Jamille de Araújo Bitencourt

Full Text Available Few chromosomal reports are available for the endemic fish fauna from coastal basins in northeastern Brazil, and regional biodiversity remains partially or completely unknown. This is particularly true for Loricariidae, the most diverse family of armored catfishes. In the present work, allopatric populations of Hypostomus cf. wuchereri (Siluriformes: Loricariidae from two basins in Bahia (northeastern Brazil were cytogenetically analyzed. Both populations shared 2n = 76 chromosomes, a karyotype formula of 10m+18sm+48st/a (FN = 104 and single terminal GC-rich NORs on the second metacentric pair. Nevertheless, microstructural differences were detected by C-banding, fluorochrome staining and chromosomal digestion with restriction enzymes (Alu I, Bam HI, Hae III, and Dde I. The population from Una River (Recôncavo Sul basin showed conspicuous heterochromatin blocks and a remarkable heterogeneity of base composition (presence of interspersed AT/GC-rich and exclusively AT- or GC-rich sites, while the population from Mutum river (Contas River basin presented interstitial AT-rich C-bands and terminal GC/AT-rich heterochromatin. Each enzyme yielded a specific band profile per population which allowed us characterizing up to five heterochromatin families in each population. Based on the present data, we infer that these populations have been evolving independently, as favored by their geographic isolation, probably representing cryptic species.

Computer aided analysis of additional chromosome aberrations in Philadelphia chromosome positive acute lymphoblastic leukaemia using a simplified computer readable cytogenetic notation

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Mohr Brigitte

2003-01-01

Full Text Available Abstract Background The analysis of complex cytogenetic databases of distinct leukaemia entities may help to detect rare recurring chromosome aberrations, minimal common regions of gains and losses, and also hot spots of genomic rearrangements. The patterns of the karyotype alterations may provide insights into the genetic pathways of disease progression. Results We developed a simplified computer readable cytogenetic notation (SCCN by which chromosome findings are normalised at a resolution of 400 bands. Lost or gained chromosomes or chromosome segments are specified in detail, and ranges of chromosome breakpoint assignments are recorded. Software modules were written to summarise the recorded chromosome changes with regard to the respective chromosome involvement. To assess the degree of karyotype alterations the ploidy levels and numbers of numerical and structural changes were recorded separately, and summarised in a complex karyotype aberration score (CKAS. The SCCN and CKAS were used to analyse the extend and the spectrum of additional chromosome aberrations in 94 patients with Philadelphia chromosome positive (Ph-positive acute lymphoblastic leukemia (ALL and secondary chromosome anomalies. Dosage changes of chromosomal material represented 92.1% of all additional events. Recurring regions of chromosome losses were identified. Structural rearrangements affecting (pericentromeric chromosome regions were recorded in 24.6% of the cases. Conclusions SCCN and CKAS provide unifying elements between karyotypes and computer processable data formats. They proved to be useful in the investigation of additional chromosome aberrations in Ph-positive ALL, and may represent a step towards full automation of the analysis of large and complex karyotype databases.

Molecular cytogenetic analysis of human blastocysts andcytotrophoblasts by multi-color FISH and Spectra Imaging analyses

Energy Technology Data Exchange (ETDEWEB)

Weier, Jingly F.; Ferlatte, Christy; Baumgartner, Adolf; Jung,Christine J.; Nguyen, Ha-Nam; Chu, Lisa W.; Pedersen, Roger A.; Fisher,Susan J.; Weier, Heinz-Ulrich G.

2006-02-08

Numerical chromosome aberrations in gametes typically lead to failed fertilization, spontaneous abortion or a chromosomally abnormal fetus. By means of preimplantation genetic diagnosis (PGD), we now can screen human embryos in vitro for aneuploidy before transferring the embryos to the uterus. PGD allows us to select unaffected embryos for transfer and increases the implantation rate in in vitro fertilization programs. Molecular cytogenetic analyses using multi-color fluorescence in situ hybridization (FISH) of blastomeres have become the major tool for preimplantation genetic screening of aneuploidy. However, current FISH technology can test for only a small number of chromosome abnormalities and hitherto failed to increase the pregnancy rates as expected. We are in the process of developing technologies to score all 24 chromosomes in single cells within a 3 day time limit, which we believe is vital to the clinical setting. Also, human placental cytotrophoblasts (CTBs) at the fetal-maternal interface acquire aneuploidies as they differentiate to an invasive phenotype. About 20-50% of invasive CTB cells from uncomplicated pregnancies were found aneuploidy, suggesting that the acquisition of aneuploidy is an important component of normal placentation, perhaps limiting the proliferative and invasive potential of CTBs. Since most invasive CTBs are interphase cells and possess extreme heterogeneity, we applied multi-color FISH and repeated hybridizations to investigate individual CTBs. In summary, this study demonstrates the strength of Spectral Imaging analysis and repeated hybridizations, which provides a basis for full karyotype analysis of single interphase cells.

Laparoscopy After Previous Laparotomy

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Zulfo Godinjak

2006-11-01

Full Text Available Following the abdominal surgery, extensive adhesions often occur and they can cause difficulties during laparoscopic operations. However, previous laparotomy is not considered to be a contraindication for laparoscopy. The aim of this study is to present that an insertion of Veres needle in the region of umbilicus is a safe method for creating a pneumoperitoneum for laparoscopic operations after previous laparotomy. In the last three years, we have performed 144 laparoscopic operations in patients that previously underwent one or two laparotomies. Pathology of digestive system, genital organs, Cesarean Section or abdominal war injuries were the most common causes of previouslaparotomy. During those operations or during entering into abdominal cavity we have not experienced any complications, while in 7 patients we performed conversion to laparotomy following the diagnostic laparoscopy. In all patients an insertion of Veres needle and trocar insertion in the umbilical region was performed, namely a technique of closed laparoscopy. Not even in one patient adhesions in the region of umbilicus were found, and no abdominal organs were injured.

Feature binding and attention in working memory: a resolution of previous contradictory findings.

Science.gov (United States)

Allen, Richard J; Hitch, Graham J; Mate, Judit; Baddeley, Alan D

2012-01-01

We aimed to resolve an apparent contradiction between previous experiments from different laboratories, using dual-task methodology to compare effects of a concurrent executive load on immediate recognition memory for colours or shapes of items or their colour-shape combinations. Results of two experiments confirmed previous evidence that an irrelevant attentional load interferes equally with memory for features and memory for feature bindings. Detailed analyses suggested that previous contradictory evidence arose from limitations in the way recognition memory was measured. The present findings are inconsistent with an earlier suggestion that feature binding takes place within a multimodal episodic buffer Baddeley, ( 2000 ) and support a subsequent account in which binding takes place automatically prior to information entering the episodic buffer Baddeley, Allen, & Hitch, ( 2011 ). Methodologically, the results suggest that different measures of recognition memory performance (A', d', corrected recognition) give a converging picture of main effects, but are less consistent in detecting interactions. We suggest that this limitation on the reliability of measuring recognition should be taken into account in future research so as to avoid problems of replication that turn out to be more apparent than real.

Application of RUNTA code in flood analyses

International Nuclear Information System (INIS)

Perez Martin, F.; Benitez Fonzalez, F.

1994-01-01

Flood probability analyses carried out to date indicate the need to evaluate a large number of flood scenarios. This necessity is due to a variety of reasons, the most important of which include: - Large number of potential flood sources - Wide variety of characteristics of flood sources - Large possibility of flood-affected areas becoming inter linked, depending on the location of the potential flood sources - Diversity of flood flows from one flood source, depending on the size of the rupture and mode of operation - Isolation times applicable - Uncertainties in respect of the structural resistance of doors, penetration seals and floors - Applicable degrees of obstruction of floor drainage system Consequently, a tool which carries out the large number of calculations usually required in flood analyses, with speed and flexibility, is considered necessary. The RUNTA Code enables the range of possible scenarios to be calculated numerically, in accordance with all those parameters which, as a result of previous flood analyses, it is necessary to take into account in order to cover all the possible floods associated with each flood area

Preoperative screening: value of previous tests.

Science.gov (United States)

Macpherson, D S; Snow, R; Lofgren, R P

1990-12-15

To determine the frequency of tests done in the year before elective surgery that might substitute for preoperative screening tests and to determine the frequency of test results that change from a normal value to a value likely to alter perioperative management. Retrospective cohort analysis of computerized laboratory data (complete blood count, sodium, potassium, and creatinine levels, prothrombin time, and partial thromboplastin time). Urban tertiary care Veterans Affairs Hospital. Consecutive sample of 1109 patients who had elective surgery in 1988. At admission, 7549 preoperative tests were done, 47% of which duplicated tests performed in the previous year. Of 3096 previous results that were normal as defined by hospital reference range and done closest to the time of but before admission (median interval, 2 months), 13 (0.4%; 95% CI, 0.2% to 0.7%), repeat values were outside a range considered acceptable for surgery. Most of the abnormalities were predictable from the patient's history, and most were not noted in the medical record. Of 461 previous tests that were abnormal, 78 (17%; CI, 13% to 20%) repeat values at admission were outside a range considered acceptable for surgery (P less than 0.001, frequency of clinically important abnormalities of patients with normal previous results with those with abnormal previous results). Physicians evaluating patients preoperatively could safely substitute the previous test results analyzed in this study for preoperative screening tests if the previous tests are normal and no obvious indication for retesting is present.

Contrasting Evolutionary Paths Among Indo-Pacific Pomacentrus Species Promoted by Extensive Pericentric Inversions and Genome Organization of Repetitive Sequences.

Science.gov (United States)

Getlekha, Nuntaporn; Cioffi, Marcelo de Bello; Maneechot, Nuntiya; Bertollo, Luiz Antônio Carlos; Supiwong, Weerayuth; Tanomtong, Alongklod; Molina, Wagner Franco

2018-02-01

Pomacentrus (damselfishes) is one of the most characteristic groups of fishes in the Indo-Pacific coral reef. Its 77 described species exhibit a complex taxonomy with cryptic lineages across their extensive distribution. Periods of evolutionary divergences between them are very variable, and the cytogenetic events that followed their evolutionary diversification are largely unknown. In this respect, analyses of chromosomal divergence, within a phylogenetic perspective, are particularly informative regarding karyoevolutionary trends. As such, we conducted conventional cytogenetic and cytogenomic analyses in four Pomacentrus species (Pomacentrus similis, Pomacentrus auriventris, Pomacentrus moluccensis, and Pomacentrus cuneatus), through the mapping of repetitive DNA classes and transposable elements, including 18S rDNA, 5S rDNA, (CA) 15 , (GA) 15 , (CAA) 10 , Rex6, and U2 snDNA as markers. P. auriventris and P. similis, belonging to the Pomacentrus coelestis complex, have indistinguishable karyotypes (2n = 48; NF = 48), with a peculiar syntenic organization of ribosomal genes. On the other hand, P. moluccensis and P. cuneatus, belonging to another clade, exhibit very different karyotypes (2n = 48, NF = 86 and 92, respectively), with a large number of bi-armed chromosomes, where multiple pericentric inversions played a significant role in their karyotype organization. In this sense, different chromosomal pathways followed the phyletic diversification in the Pomacentrus genus, making possible the characterization of two well-contrasting species groups regarding their karyotype features. Despite this, pericentric inversions act as an effective postzygotic barrier in many organisms, which appear to be also the case for P. moluccensis and P. cuneatus; the extensive chromosomal similarities in the two species of P. coelestis complex suggest minor participation of chromosomal postzygotic barriers in the phyletic diversification of these species.

A simple chromosomal marker can reliably distinguishes Poncirus from Citrus species.

Science.gov (United States)

Brasileiro-Vidal, A C; Dos Santos-Serejo, J A; Soares Filho, W Dos S; Guerra, M

2007-03-01

Several chromosome types have been recognized in Citrus and related genera by chromomycin A(3 )(CMA) banding patterns and fluorescent in situ hybridization (FISH). They can be used to characterize cultivars and species or as markers in hybridization and backcrossing experiments. In the present work, characterization of six cultivars of P. trifoliata ("Barnes", "Fawcett", "Flying Dragon", "Pomeroy", "Rubidoux", "USDA") and one P. trifoliata x C. limonia hybrid was performed by sequential analyses of CMA banding and FISH using 5S and 45S rDNA as probes. All six cultivars showed a similar CMA(+) banding pattern with the karyotype formula 4B + 8D + 6F. The capital letters indicate chromosomal types: B, a chromosome with one telomeric and one proximal band; D, with only one telomeric band; F, without bands. In situ hybridization labeling was also similar among cultivars. Three chromosome pairs displayed a closely linked set of 5S and 45S rDNA sites, two of them co-located with the proximal band of the B type chromosomes (B/5S-45S) and the third one co-located with the terminal band of a D pair (D/5S-45S). The B/5S-45S chromosome has never been found in any citrus accessions investigated so far. Therefore, this B chromosome can be used as a marker to recognize the intergeneric Poncirus x Citrus hybrids. The intergeneric hybrid analyzed here displayed the karyotype formula 4B + 8D + 6F, with two chromosome types B/5S-45S and two D/5S-45S. The karyotype formula and the presence of two B/5S-45S chromosomes clearly indicate that the plant investigated is a symmetric hybrid. It also demonstrates the suitability of karyotype analyses to differentiate zygotic embryos or somatic cell fusions involving trifoliate orange germplasm.

Sperm FISH analysis of a 44,X,der(Y),t(Y;15)(q12;q10)pat,rob(13;14)(q10;q10)mat complex chromosome rearrangement.

Science.gov (United States)

Ferfouri, F; Boitrelle, F; Clement, P; Molina Gomes, D; Selva, J; Vialard, F

2014-06-01

Complex chromosome rearrangements (CCR) with two independent chromosome rearrangements are rare. Although CCRs lead to high unbalanced gamete rates, data on meiotic segregation in this context are scarce. A male patient was referred to our clinic as part of a family screening programme prompted by the observation of a 44,X,der(Y),t(Y;15)(q12;q10)pat,rob(13;14)(q10;q10)mat karyotype in his brother. Karyotyping identified the same CCR. Sperm FISH (with locus-specific probes for the segments involved in the translocations and nine chromosomes not involved in both rearrangements) was used to investigate the rearrangements meiotic segregation products and establish whether or not an inter-chromosomal effect was present. Sperm nuclear DNA fragmentation was also evaluated. For rob(13;14) and der(Y), the proportions of unbalanced products were, respectively, 26.4% and 60.6%. Overall, 70.3% of the meiotic segregation products were unbalanced. No evidence of an inter-chromosomal effect was found, and the sperm nuclear DNA fragmentation rate was similar to our laboratory's normal cut-off value. In view of previously published sperm FISH analyses of Robertsonian translocations (and even though the mechanism is still unknown), we hypothesise that cosegregation of der(Y) and rob(13;14) could modify rob(13;14) meiotic segregation. © 2013 Blackwell Verlag GmbH.

Performance and Vibration Analyses of Lift-Offset Helicopters

Directory of Open Access Journals (Sweden)

Jeong-In Go

2017-01-01

Full Text Available A validation study on the performance and vibration analyses of the XH-59A compound helicopter is conducted to establish techniques for the comprehensive analysis of lift-offset compound helicopters. This study considers the XH-59A lift-offset compound helicopter using a rigid coaxial rotor system as a verification model. CAMRAD II (Comprehensive Analytical Method of Rotorcraft Aerodynamics and Dynamics II, a comprehensive analysis code, is used as a tool for the performance, vibration, and loads analyses. A general free wake model, which is a more sophisticated wake model than other wake models, is used to obtain good results for the comprehensive analysis. Performance analyses of the XH-59A helicopter with and without auxiliary propulsion are conducted in various flight conditions. In addition, vibration analyses of the XH-59A compound helicopter configuration are conducted in the forward flight condition. The present comprehensive analysis results are in good agreement with the flight test and previous analyses. Therefore, techniques for the comprehensive analysis of lift-offset compound helicopters are appropriately established. Furthermore, the rotor lifts are calculated for the XH-59A lift-offset compound helicopter in the forward flight condition to investigate the airloads characteristics of the ABC™ (Advancing Blade Concept rotor.

SV40 T antigen alone drives karyotype instability that precedes neoplastic transformation of human diploid fibroblasts.

Science.gov (United States)

Ray, F A; Peabody, D S; Cooper, J L; Cram, L S; Kraemer, P M

1990-01-01

To define the role of SV40 large T antigen in the transformation and immortalization of human cells, we have constructed a plasmid lacking most of the unique coding sequences of small t antigen as well as the SV40 origin of replication. The promoter for T antigen, which lies within the origin of replication, was deleted and replaced by the Rous sarcoma virus promoter. This minimal construct was co-electroporated into normal human fibroblasts of neonatal origin along with a plasmid containing the neomycin resistance gene (neo). Three G418-resistant, T antigen-positive clones were expanded and compared to three T antigen-positive clones that received the pSV3neo plasmid (capable of expressing large and small T proteins and having two origins of replication). Autonomous replication of plasmid DNA was observed in all three clones that received pSV3neo but not in any of the three origin minus clones. Immediately after clonal expansion, several parameters of neoplastic transformation were assayed. Low percentages of cells in T antigen-positive populations were anchorage independent or capable of forming colonies in 1% fetal bovine serum. The T antigen-positive clones generally exhibited an extended lifespan in culture but rarely became immortalized. Large numbers of dead cells were continually generated in all T antigen-positive, pre-crisis populations. Ninety-nine percent of all T antigen-positive cells had numerical or structural chromosome aberrations. Control cells that received the neo gene did not have an extended life span, did not have noticeable numbers of dead cells, and did not exhibit karyotype instability. We suggest that the role of T antigen protein in the transformation process is to generate genetic hypervariability, leading to various consequences including neoplastic transformation and cell death.

African Journal of Biotechnology - Vol 8, No 21 (2009)

African Journals Online (AJOL)

Analyses of karyotypes and comparative physical locations of the resistance gene, Xa-5, between Oryza sativa and Oryza,/i> officinalis · EMAIL FREE FULL .... Phytochemical constituents and effects of aqueous root-bark extract of Ficus sycomorus L. (Moracaea) on muscular relaxation, anaesthetic and sleeping time on ...

Extensive next-generation sequencing analysis in chronic lymphocytic leukemia at diagnosis: clinical and biological correlations

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Gian Matteo Rigolin

2016-09-01

NGS and karyotype analyses using novel mitogens may offer new perspectives for a better refinement of risk stratification that could be of help in the clinical management of CLL patients.

Novel Space Exploration Technique for Analysing Planetary Atmospheres

OpenAIRE

Dekoulis, George

2010-01-01

The chapter presents a new reconfigurable wide-beam radio interferometer system for analysing planetary atmospheres. The system operates at frequencies, where the ionisation of the planetary plasma regions induces strong attenuation. For Earth, the attenuation is undistinguishable from the CMB at frequencies over 50 MHz. The system introduces a set of advanced specifications to this field of science, previously unseen in similar suborbital experiments. The reprogrammable dynamic range of the ...

Abundance analyses of thirty cool carbon stars

International Nuclear Information System (INIS)

Utsumi, Kazuhiko

1985-01-01

The results were previously obtained by use of the absolute gf-values and the cosmic abundance as a standard. These gf-values were found to contain large systematic errors, and as a result, the solar photospheric abundances were revised. Our previous results, therefore, must be revised by using new gf-values, and abundance analyses are extended for as many carbon stars as possible. In conclusion, in normal cool carbon stars heavy metals are overabundant by factors of 10 - 100 and rare-earth elements are overabundant by a factor of about 10, and in J-type cool carbon stars, C 12 /C 13 ratio is smaller, C 2 and CN bands and Li 6708 are stronger than in normal cool carbon stars, and the abundances of s-process elements with respect to Fe are nearly normal. (Mori, K.)

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Genus Astyanax is well distributed in Neotropical freshwater environments and its taxonomic position is uncertain, as is the case with other Characidae genera allocated in the group incertae sedis. This study aimed to analyse the karyotype of different populations of Astyanax fasciatus (Corumbataí River basin) using ...

Cytogenetic studies of 11 meningiomas and their clinical significance. II

DEFF Research Database (Denmark)

Poulsgård, L; Schrøder, H D; Rønne, M

1990-01-01

Cytogenetic analyses of 11 consecutive cases of meningiomas from 7 female and 4 male patients are reported. Chromosomal abnormalities were found in all cases. Only two of the cases showed cells with normal karyotype in addition to the abnormal stemline. Two of the cases displayed a more aggressive...

Self-reported previous knee injury and low knee function increase knee injury risk in adolescent female football

DEFF Research Database (Denmark)

Clausen, Mikkel Bek; Tang, L; Zebis, M K

2016-01-01

with low KOOS subscale scores (Sport/Recreational (RR: 2.2) and Quality of Life (RR: 3.0) (P time-loss knee...... questionnaires were collected at baseline. Time-loss knee injuries and football exposures were reported weekly by answers to standardized text-message questions, followed by injury telephone interviews. A priori, self-reported previous knee injury and low KOOS subscale scores (... as independent variables in the risk factor analyses. The study showed that self-reported previous knee injury significantly increased the risk of time-loss knee injury [relative risk (RR): 3.65, 95% confidence (CI) 1.73-7.68; P time-loss knee injury was also significantly increased in players...

Karyotype and male pre-reductional meiosis of the sharpshooter Tapajosa rubromarginata (Hemiptera: Cicadellidae

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Graciela R de Bigliardo

2011-03-01

Full Text Available Cicadellidae in one of the best represented families in the Neotropical Region, and the tribe Proconiini comprises most of the xylem-feeding insects, including the majority of the known vectors of xylem-born phytopathogenic organisms. The cytogenetics of the Proconiini remains largely unexplored. We studied males of Tapajosa rubromarginata (Signoret collected at El Manantial (Tucumán, Argentina on native spontaneous vegetation where Sorghum halepense predominates. Conventional cytogenetic techniques were used in order to describe the karyotype and male meiosis of this sharpshooter. T. rubromarginata has a male karyological formula of 2n=21 and a sex chromosome system XO:XX (♂:♀. The chromosomes do not have a primary constriction, being holokinetic and the meiosis is pre-reductional, showing similar behavior both for autosomes and sex chromosomes during anaphase I. For this stage, chromosomes are parallel to the acromatic spindle with kinetic activities in the telomeres. They segregate reductionally in the anaphase I, and towards the equator during the second division of the meiosis. This is the first contribution to cytogenetic aspects on proconines sharpshooters, particularly on this economic relevant Auchenorrhyncha species. Rev. Biol. Trop. 59 (1: 309-314. Epub 2011 March 01.Los Cicadellidae son una de las familias mejor representadas en la región neotropical. La tribu Proconiini incluye a muchos de los insectos que se alimentan de xilema y la mayoría de los vectores de organismos fitopatógenos asociados con dicho tejido de conducción. La citogenética de los Proconiini es prácticamente inexplorada. Por lo tanto, se utilizaron técnicas citogenéticas convencionales para describir el cariotipo y la meiosis en los machos de Tapajosa rubromarginata Signoret. Este cicadélido presenta el complemento cromosómico diploide de 2n=20A+X0 en los machos. Los cromosomas no presentan constricción primaria, son holocinéticos, y la meiosis es

Post hoc analyses of the impact of previous medication on the efficacy of lisdexamfetamine dimesylate in the treatment of attention-deficit/hyperactivity disorder in a randomized, controlled trial

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Coghill DR

2014-10-01

=317; LDX, -18.6 [-21.5, -15.7]; OROS- MPH, -13.0 [-15.9, -10.2] and treatment-naïve individuals (n=147; LDX, -15.1 [-19.4, -10.9]; OROS-MPH, -12.7 [-16.8, -8.5] or patients previously treated with any ADHD medication (n=170; LDX, -21.5 [-25.5, -17.6]; OROS-MPH, -14.2 [-18.1, -10.3]. In addition, similar proportions of patients receiving active treatment were categorized as improved based on CGI-I score (CGI-I of 1 or 2 in the overall study population and among treatment-naïve individuals or patients previously treated with any ADHD medication. Conclusion: In these post hoc analyses, the response to LDX treatment, and to the reference treatment OROS-MPH, was similar to that observed for the overall study population in subgroups of patients categorized according to whether or not they had previously received ADHD medication. Keywords: attention-deficit/hyperactivity disorder, lisdexamfetamine dimesylate, methylphenidate, central nervous system stimulants

Análisis del tamaño del genoma y cariotipo de Agave aktites Gentry (Agavaceae de Sonora, México Genome size and karyotype analysis of Agave aktites Gentry (Agavaceae from Sonora, Mexico

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Guadalupe Palomino

2010-12-01

Full Text Available Se determinó el tamaño del genoma y la estructura del cariotipo de 2 poblaciones silvestres de Agave aktites Gentry de Las Bocas y San Carlos, Sonora, México. El contenido de ADN nuclear en tejido foliar se determinó por citometría de flujo y los cromosomas se observaron en metafase mitótica de meristemos radiculares. Las plantas en ambas poblaciones son diploides (2n= 2x= 60. El contenido promedio 2C de ADN nuclear fue de 8.404 pg; 1Cx= 4 120 millones de pares de nucleótidos. El cariotipo bimodal fue similar en las 2 poblaciones y consistió de 10 cromosomas grandes y 50 pequeños y correspondió a 46m+6st+8t: también mostró un par de cromosomas telocéntricos grandes con constricción secundaria. El cociente de los brazos cromosómicos fue diferente en los pares 7, 8, 14 y 16 del grupo de cromosomas pequeños que presentan diferencias morfológicas entre las 2 poblaciones. Estos rearreglos cromosómicos podrían deberse a intercambios cromosómicos heterocigóticos espontáneos y son evidencia de que los genomas de distintas poblaciones de A. aktites se encuentran en un activo proceso de diferenciación que podría llevar a la especiación. Los análisis son básicos para conocer la diversidad genética intraespecífica de A. aktites y para establecer estrategias de conservación in situ y ex situ para esta especie.Genome size and karyotype structure of 2 wild populations of Agave aktites Gentry from Las Bocas and San Carlos, Sonora, Mexico were determined. Nuclear DNA content of leaf tissue was measured through flow cytometry, and chromosomes were observed in mitotic metaphase of root tips. All individual plants studied in both populations are diploids (2n= 2x= 60. The mean 2C nuclear DNA content was 8.404 pg; 1Cx= 4 120 million of base pairs. All plants of the 2 populations of A. aktites show a bimodal karyotype consisting of 10 large + 50 small chromosomes and corresponded to 46m+6st+8t; they also have a pair of large telocentric

Karyotypic analysis in species of the genus Dasyprocta (Rodentia: Dasyproctidae found in Brazilian Amazon

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ROSEMAR S. L. RAMOS

2003-03-01

Full Text Available A total of 30 animals of the genus Dasyprocta were cytogenetically studied. They belong to the following species: D. prymnolopha (N=20, D. leporina (N=6, D. fuliginosa (N=1 and Dasyprocta sp. (N=3 (Dasyproctidae, Hystricognathi. Cell suspensions were obtained by peripheral blood culture, besides bone marrow and spleen cells, from D. prymnolopha and D. leporina. The diploid number was 64/65 for all samples. The karyotypes showed similarity, and chromosomal polymorphism was not detected by Giemsa conventional staining and G banding. The constitutive heterochromatin distribution at the pericentromeric region of all the chromosomes was similar in all species. D. prymnolopha, D. leporina and Dasyprocta sp. presented variation in the heterochromatical block size at one of the homologues of the A18 pair. D. fuliginosa presented the heterochromatin uniformly distributed in all chromosomes. There was not variation in the NORs pattern in the species studied.Foram estudados citogeneticamente um total de 30 animais das espécies D. prymnolopha (N=20, D. leporina (N=6, D. fuliginosa (N=1 e Dasyprocta sp. (N=3 (Dasyproctidae, Histricognathi. As preparações cromossômicas foram obtidas do cultivo de sangue periférico, além de medula óssea e baço em D. prymnolopha e D. leporina. O número diplóide foi de 64/65 em todos os exemplares. O cariótipo mostrou similaridade, não sendo detectado, através de coloração convencional de giemsa e de banda G, polimorfismo cromossômico em qualquer uma das espécies estudadas. A distribuição da heterocromatina constitutiva na região pericentromérica de todos os cromossomos foi similar nas quatro espécies. D. prymnolopha, D. leporina e Dasyprocta sp. apresentaram variação no tamanho do bloco heterocromático em um dos homólogos do par A18. D. fuliginosa apresentou a heterocromatina uniformemente distribuída em todos os cromossomos. Não houve variação no padrão das RONs entre as esp��cies estudadas.

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

Science.gov (United States)

Cremonini, Giorgio; Poggi, Alice; Capucci, Roberta; Vesce, Fortunato; Patella, Alfredo; Marci, Roberto

2014-01-01

Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

Maternal condition and previous reproduction interact to affect offspring sex in a wild mammal.

Science.gov (United States)

Douhard, Mathieu; Festa-Bianchet, Marco; Pelletier, Fanie

2016-08-01

Trivers and Willard proposed that offspring sex ratio should vary with maternal condition when condition, meant as maternal capacity to care, has different fitness consequences for sons and daughters. In polygynous and dimorphic species, mothers in good condition should preferentially produce sons, whereas mothers in poor condition should produce more daughters. Despite its logical appeal, support for this hypothesis has been inconsistent. Sex-ratio variation may be influenced by additional factors, such as environmental conditions and previous reproduction, which are often ignored in empirical studies. We analysed 39 years of data on bighorn sheep (Ovis canadensis) that fit all the assumptions of the Trivers-Willard hypothesis. Production of sons increased with maternal condition only for mothers that weaned a son the previous year. This relationship likely reflects a mother's ability to bear the higher reproductive costs of sons. The interaction between maternal condition and previous weaning success on the probability of producing a son was independent of the positive effect of paternal reproductive success. Maternal and paternal effects accounted for similar proportions of the variance in offspring sex. Maternal reproductive history should be considered in addition to current condition in studies of sex allocation. © 2016 The Author(s).

Lagrangian Coherent Structure Analysis of Terminal Winds: Three-Dimensionality, Intramodel Variations, and Flight Analyses

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Brent Knutson

2015-01-01

Full Text Available We present a study of three-dimensional Lagrangian coherent structures (LCS near the Hong Kong International Airport and relate to previous developments of two-dimensional (2D LCS analyses. The LCS are contrasted among three independent models and against 2D coherent Doppler light detection and ranging (LIDAR data. Addition of the velocity information perpendicular to the LIDAR scanning cone helps solidify flow structures inferred from previous studies; contrast among models reveals the intramodel variability; and comparison with flight data evaluates the performance among models in terms of Lagrangian analyses. We find that, while the three models and the LIDAR do recover similar features of the windshear experienced by a landing aircraft (along the landing trajectory, their Lagrangian signatures over the entire domain are quite different—a portion of each numerical model captures certain features resembling those LCS extracted from independent 2D LIDAR analyses based on observations.

The Affordable Care Act, Insurance Coverage, and Health Care Utilization of Previously Incarcerated Young Men: 2008-2015.

Science.gov (United States)

Winkelman, Tyler N A; Choi, HwaJung; Davis, Matthew M

2017-05-01

To estimate health insurance and health care utilization patterns among previously incarcerated men following implementation of the Affordable Care Act's (ACA's) Medicaid expansion and Marketplace plans in 2014. We performed serial cross-sectional analyses using data from the National Survey of Family Growth between 2008 and 2015. Our sample included men aged 18 to 44 years with (n = 3476) and without (n = 8702) a history of incarceration. Uninsurance declined significantly among previously incarcerated men after ACA implementation (-5.9 percentage points; 95% confidence interval [CI] = -11.5, -0.4), primarily because of an increase in private insurance (6.8 percentage points; 95% CI = 0.1, 13.3). Previously incarcerated men accounted for a large proportion of the remaining uninsured (38.6%) in 2014 to 2015. Following ACA implementation, previously incarcerated men continued to be significantly less likely to report a regular source of primary care and more likely to report emergency department use than were never-incarcerated peers. Health insurance coverage improved among previously incarcerated men following ACA implementation. However, these men account for a substantial proportion of the remaining uninsured. Previously incarcerated men continue to lack primary care and frequently utilize acute care services.

Sex chromosome diversity in Armenian toad grasshoppers (Orthoptera, Acridoidea, Pamphagidae)

Science.gov (United States)

Bugrov, Alexander G.; Jetybayev, Ilyas E.; Karagyan, Gayane H.; Rubtsov, Nicolay B.

2016-01-01

Abstract Although previous cytogenetic analysis of Pamphagidae grasshoppers pointed to considerable karyotype uniformity among most of the species in the family, our study of species from Armenia has discovered other, previously unknown karyotypes, differing from the standard for Pamphagidae mainly in having unusual sets of sex chromosomes. Asiotmethis turritus (Fischer von Waldheim, 1833), Paranocaracris rubripes (Fischer von Waldheim, 1846), and Nocaracris cyanipes (Fischer von Waldheim, 1846) were found to have the karyotype 2n♂=16+neo-XY and 2n♀=16+neo-XX, the neo-X chromosome being the result of centromeric fusion of an ancient acrocentric X chromosome and a large acrocentric autosome. The karyotype of Paranothrotes opacus (Brunner von Wattenwyl, 1882) was found to be 2n♂=14+X1X2Y and 2n♀=14+X1X1X2X2., the result of an additional chromosome rearrangement involving translocation of the neo-Y and another large autosome. Furthermore, evolution of the sex chromosomes in these species has involved different variants of heterochromatinization and miniaturization of the neo-Y. The karyotype of Eremopeza festiva (Saussure, 1884), in turn, appeared to have the standard sex determination system described earlier for Pamphagidae grasshoppers, 2n♂=18+X0 and 2n♀=18+XX, but all the chromosomes of this species were found to have small second C-positive arms. Using fluorescent in situ hybridization (FISH) with 18S rDNA and telomeric (TTAGG)n DNA repeats to yield new data on the structural organization of chromosomes in the species studied, we found that for most of them, clusters of repeats homologous to 18S rDNA localize on two, three or four pairs of autosomes and on the X. In Eremopeza festiva, however, FISH with labelled 18S rDNA painted C-positive regions of all autosomes and the X chromosome; clusters of telomeric repeats localized primarily on the ends of the chromosome arms. Overall, we conclude that the different stages of neo-Y degradation revealed in

Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.

Science.gov (United States)

Lim, Han Hyuk; Kil, Hong Ryang; Koo, Sun Hoe

2017-05-09

Turner syndrome (TS), characterized by short stature and premature ovarian failure, is caused by chromosomal aberrations with total or partial loss of one of the two X chromosomes. Spontaneous puberty, menarche, and pregnancy occur in some patients depending on the abnormality of the X. Moreover, spontaneous pregnancy is uncommon (XXX karyotype is extremely rare. Previous reports have demonstrated that TS with 45,X/47,XXX is less severe than common TS due to higher occurrence of puberty (83%), menarche (57-67%), and fertility (14%) and lower occurrence of congenital anomalies (XXX mosaicism who presented with short stature. She showed mild TS phenotype including short stature but had spontaneous puberty. Based on our case and previous reports, we expect that girls with 45,X/47,XXX mosaicism may progress through puberty normally, without estrogen therapy. Therefore, it is necessary to consider specific guidelines for clinical decisions surrounding pubertal development and fertility in TS with 45,X/47,XXX karyotype. © 2017 Wiley Periodicals, Inc.

RESEARCH NOTE Double trisomy (XXX+21 karyotype) in a six ...

Indian Academy of Sciences (India)

Claudia Talero Gutierrez

case of a six-year-old girl who presents multiple dysmorphic features ... selected from a database constructed in a previous study to evaluate Down ... In relation to language ... Her communication consisted mainly of some structured signs.

Giemsa C-banded karyotypes of Hordeum taxa from North America

DEFF Research Database (Denmark)

Linde-Laursen, Ib; Bothmer, R. von; Jacobsen, N.

1986-01-01

submetacentrics than previously reported in Hordeum distinguished the genomes of H. arizonicum and H. brachyantherum (4x) from Newfoundland. A partial inactivation of the nucleolus organizers of one parental genome in interspecific hybrids is considered more common than generally appreciated....

VESPA: Very large-scale Evolutionary and Selective Pressure Analyses

Directory of Open Access Journals (Sweden)

Andrew E. Webb

2017-06-01

Full Text Available Background Large-scale molecular evolutionary analyses of protein coding sequences requires a number of preparatory inter-related steps from finding gene families, to generating alignments and phylogenetic trees and assessing selective pressure variation. Each phase of these analyses can represent significant challenges, particularly when working with entire proteomes (all protein coding sequences in a genome from a large number of species. Methods We present VESPA, software capable of automating a selective pressure analysis using codeML in addition to the preparatory analyses and summary statistics. VESPA is written in python and Perl and is designed to run within a UNIX environment. Results We have benchmarked VESPA and our results show that the method is consistent, performs well on both large scale and smaller scale datasets, and produces results in line with previously published datasets. Discussion Large-scale gene family identification, sequence alignment, and phylogeny reconstruction are all important aspects of large-scale molecular evolutionary analyses. VESPA provides flexible software for simplifying these processes along with downstream selective pressure variation analyses. The software automatically interprets results from codeML and produces simplified summary files to assist the user in better understanding the results. VESPA may be found at the following website: http://www.mol-evol.org/VESPA.

Methodological Quality Assessment of Meta-analyses in Endodontics.

Science.gov (United States)

Kattan, Sereen; Lee, Su-Min; Kohli, Meetu R; Setzer, Frank C; Karabucak, Bekir

2018-01-01

The objectives of this review were to assess the methodological quality of published meta-analyses related to endodontics using the assessment of multiple systematic reviews (AMSTAR) tool and to provide a follow-up to previously published reviews. Three electronic databases were searched for eligible studies according to the inclusion and exclusion criteria: Embase via Ovid, The Cochrane Library, and Scopus. The electronic search was amended by a hand search of 6 dental journals (International Endodontic Journal; Journal of Endodontics; Australian Endodontic Journal; Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology; Endodontics and Dental Traumatology; and Journal of Dental Research). The searches were conducted to include articles published after July 2009, and the deadline for inclusion of the meta-analyses was November 30, 2016. The AMSTAR assessment tool was used to evaluate the methodological quality of all included studies. A total of 36 reports of meta-analyses were included. The overall quality of the meta-analyses reports was found to be medium, with an estimated mean overall AMSTAR score of 7.25 (95% confidence interval, 6.59-7.90). The most poorly assessed areas were providing an a priori design, the assessment of the status of publication, and publication bias. In recent publications in the field of endodontics, the overall quality of the reported meta-analyses is medium according to AMSTAR. Copyright © 2017 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

A review of bioinformatic methods for forensic DNA analyses.

Science.gov (United States)

Liu, Yao-Yuan; Harbison, SallyAnn

2018-03-01

Short tandem repeats, single nucleotide polymorphisms, and whole mitochondrial analyses are three classes of markers which will play an important role in the future of forensic DNA typing. The arrival of massively parallel sequencing platforms in forensic science reveals new information such as insights into the complexity and variability of the markers that were previously unseen, along with amounts of data too immense for analyses by manual means. Along with the sequencing chemistries employed, bioinformatic methods are required to process and interpret this new and extensive data. As more is learnt about the use of these new technologies for forensic applications, development and standardization of efficient, favourable tools for each stage of data processing is being carried out, and faster, more accurate methods that improve on the original approaches have been developed. As forensic laboratories search for the optimal pipeline of tools, sequencer manufacturers have incorporated pipelines into sequencer software to make analyses convenient. This review explores the current state of bioinformatic methods and tools used for the analyses of forensic markers sequenced on the massively parallel sequencing (MPS) platforms currently most widely used. Copyright © 2017 Elsevier B.V. All rights reserved.

Discrepancy of cytogenetic analysis in Western and eastern Taiwan.

Science.gov (United States)

Chang, Yu-Hsun; Chen, Pui-Yi; Li, Tzu-Ying; Yeh, Chung-Nan; Li, Yi-Shian; Chu, Shao-Yin; Lee, Ming-Liang

2013-06-01

This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies. From 2004 to 2009, pregnant women who underwent amniocentesis in their second trimester at three hospitals in western Taiwan and at four hospitals in eastern Taiwan were included. All the cytogenetic analyses of cultured amniocytes were performed in the cytogenetics laboratory of the Genetic Counseling Center of Hualien Buddhist Tzu Chi General Hospital. We used the chi-square test, Student t test, and Mann-Whitney U test to evaluate the variants of clinical indications, amniocyte karyotyping results, and prevalence and types of chromosomal anomalies in western and eastern Taiwan. During the study period, 3573 samples, 1990 (55.7%) from western Taiwan and 1583 (44.3%) from eastern Taiwan, were collected and analyzed. The main indication for amniocyte karyotyping was advanced maternal age (69.0% in western Taiwan, 67.1% in eastern Taiwan). The detection rates of chromosomal anomalies by amniocyte karyotyping in eastern Taiwan (45/1582, 2.8%) did not differ significantly from that in western Taiwan (42/1989, 2.1%) (p = 1.58). Mothers who had abnormal ultrasound findings and histories of familial hereditary diseases or chromosomal anomalies had higher detection rates of chromosomal anomalies (9.3% and 7.2%, respectively). The detection rate of autosomal anomalies was higher in eastern Taiwan (93.3% vs. 78.6%, p = 0.046), but the detection rate of sex-linked chromosomal anomalies was higher in western Taiwan (21.4% vs. 6.7%, p = 0.046). We demonstrated regional differences in second-trimester amniocyte karyotyping results and established a database of common chromosomal anomalies that could be useful for genetic counseling, especially in eastern Taiwan. Copyright © 2012. Published by Elsevier B.V.

Exercise improves depressive symptoms in older adults: An umbrella review of systematic reviews and meta-analyses.

Science.gov (United States)

Catalan-Matamoros, Daniel; Gomez-Conesa, Antonia; Stubbs, Brendon; Vancampfort, Davy

2016-10-30

Late-life depression is a growing public health concern. Exercise may be of added value but the literature remains equivocal. We conducted a systematic overview of meta-analyses and an exploratory pooled analysis of previous meta-analyses to determine the effect of exercise on depression in older adults. Two independent researchers searched Pubmed, CINAHL, Cochrane Plus, PsycArticles, and PsycInfo for meta-analyses on exercise in late-life depression. Methodological quality was assessed using the Assessment of Multiple Systematic Reviews (AMSTAR) Instrument. We pooled effect sizes from previous meta-analyses of randomized controlled trials to determine the effect of exercise on depression in older adults. The systematic review yielded 3 meta-analyses. In total, 16 unique cohorts of 1487 participants were included. The quality of the three included meta-analyses was considered as "moderate" according to AMSTAR scores. No serious adverse events were reported. Compared to controls (n=583), those exercising (n=541) significantly reduced depressive symptoms. Our umbrella review indicates that exercise is safe and efficacious in reducing depressive symptoms in older people. Since exercise has many other known health benefits, it should be considered as a core intervention in the multidisciplinary treatment of older adults experiencing depression. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Proteins analysed as virtual knots

Science.gov (United States)

Alexander, Keith; Taylor, Alexander J.; Dennis, Mark R.

2017-02-01

Long, flexible physical filaments are naturally tangled and knotted, from macroscopic string down to long-chain molecules. The existence of knotting in a filament naturally affects its configuration and properties, and may be very stable or disappear rapidly under manipulation and interaction. Knotting has been previously identified in protein backbone chains, for which these mechanical constraints are of fundamental importance to their molecular functionality, despite their being open curves in which the knots are not mathematically well defined; knotting can only be identified by closing the termini of the chain somehow. We introduce a new method for resolving knotting in open curves using virtual knots, which are a wider class of topological objects that do not require a classical closure and so naturally capture the topological ambiguity inherent in open curves. We describe the results of analysing proteins in the Protein Data Bank by this new scheme, recovering and extending previous knotting results, and identifying topological interest in some new cases. The statistics of virtual knots in protein chains are compared with those of open random walks and Hamiltonian subchains on cubic lattices, identifying a regime of open curves in which the virtual knotting description is likely to be important.

Pre-natal counselling and diagnosis in Down's syndrome.

Science.gov (United States)

Papp, Z

1973-01-01

Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype?

Science.gov (United States)

Binet, A; Lardy, H; Geslin, D; Francois-Fiquet, C; Poli-Merol, M L

2016-03-01

There is a wide difference of opinion between the medical-surgical community and advocacy group regarding Disorders of Sexual Development (DSD) secondary to congenital adrenal hyperplasia (CAH) being ranked in the intersex category. This rupture is even more evident when the issue of genitoplasty is brought up. For physicians it is obvious and unequivocal that a person with CAH and an XX karyotype has a female gender identity, whereas associations tend to rank persons with CAH in the intersex category and advocate holding-off on surgical management. A retrospective case study vs. control group, spanning over 40years, included 21 patients who were treated in 3 different centers. Each patient and their parents were contacted independently and interviewed regarding interpersonal relationships, psychological impact of genitoplasty, gender identity and opinion on optimal care management for this disorder. Three couples controls (parent-child) per CAH patients were used and matched according to age, sex assigned at birth and ethnic origin. Sex assigned at birth seemed to concord with the gender identity perceived by the patients in 85.7% of cases. In fact, 89.7% of patients and 100% of parents felt that feminizing genitoplasty should be performed within the first year of life. There is however a significant difference compared to controls who felt that surgical management should occur later on in life. No difference was highlighted during childhood regarding parents-child relationships or social integration. However, during adolescence, the parents-child relationship tended to be significantly more painful for the CAH group. Integrating their parenting role was significantly harder for patients in the CAH-DSD group. In the population of CAH-DSD patients who had genitoplasty the level of sexual fulfillment was not lower to the one reported by the control group. Female sex assignment seems legitimate according to this study and the development of gender identity in these

BWR core melt progression phenomena: Experimental analyses

International Nuclear Information System (INIS)

Ott, L.J.

1992-01-01

In the BWR Core Melt in Progression Phenomena Program, experimental results concerning severe fuel damage and core melt progression in BWR core geometry are used to evaluate existing models of the governing phenomena. These include control blade eutectic liquefaction and the subsequent relocation and attack on the channel box structure; oxidation heating and hydrogen generation; Zircaloy melting and relocation; and the continuing oxidation of zirconium with metallic blockage formation. Integral data have been obtained from the BWR DF-4 experiment in the ACRR and from BWR tests in the German CORA exreactor fuel-damage test facility. Additional integral data will be obtained from new CORA BWR test, the full-length FLHT-6 BWR test in the NRU test reactor, and the new program of exreactor experiments at Sandia National Laboratories (SNL) on metallic melt relocation and blockage formation. an essential part of this activity is interpretation and use of the results of the BWR tests. The Oak Ridge National Laboratory (ORNL) has developed experiment-specific models for analysis of the BWR experiments; to date, these models have permitted far more precise analyses of the conditions in these experiments than has previously been available. These analyses have provided a basis for more accurate interpretation of the phenomena that the experiments are intended to investigate. The results of posttest analyses of BWR experiments are discussed and significant findings from these analyses are explained. The ORNL control blade/canister models with materials interaction, relocation and blockage models are currently being implemented in SCDAP/RELAP5 as an optional structural component

Citogenética de Calochortus barbatus (Liliaceae: Calochortoideae de la Reserva Ecológica del Pedregal de San Ángel, en México, Distrito Federal Cytogenetics of Calochortus barbatus (Liliaceae: Calochortoideae of the Reserva Ecológica del Pedregal de San Ángel, Distrito Federal, Mexico

Directory of Open Access Journals (Sweden)

Fernando Tapia-Pastrana

2010-12-01

Full Text Available Se realizó un estudio citogenético en células de meristemos radiculares de individuos de Calochortus barbatus de la Reserva Ecológica del Pedregal de San Ángel, en México, D.F. Luego de aplicar una metodología de extendido y secado al aire se confirma un número cromosómico 2n = 4x = 36 (x = 9 y se propone por vez primera una fórmula cariotípica para la especie (14m + 22st. El cariotipo asimétrico (T.F. % = 23.13, que incluye 4 cromosomas subtelocéntricos pequeños portadores de constricciones secundarias y satélites, permite descartar la presencia de fragmentos. La longitud cromosómica total haploide (53.48 μm y el intervalo cromosómico (1.85-4.27 μm añaden datos novedosos sobre la arquitectura cromosómica. Se discute el papel de la hibridación intraespecífica y autoploidía en la conformación del cariotipo de esta especie y la necesidad de realizar estudios similares en especies estrechamente relacionadas.Meristematic root cells from seeds of individuals of Calochortus barbatus from Reserva Ecológica del Pedregal de San Ángel, Distrito Federal, Mexico were analyzed cytogenetically using a surface spreading and air-drying method. The chromosomal number, 2n = 4x = 36 (x = 9 was corroborated. The mitotic karyotype was established for the first time for this species as 14m + 22st. The asymmetric karyotype, which includes 4 small subtelocentric chromosomes bearing a secondary constriction with its corresponding satellites, allows to discard previous reports of chromosomal fragments. Total haploid chromosomal length (53.48 μm, chromosomal length range (1.85 - 4.27 μm and the asymmetry index (T.F. % = 23.13 add new information on chromosome architecture. The role of intraspecific hybridization and autoploidy in shaping the karyotype of this species and the need of performing similar analyses in related species are discussed.

Fluid intelligence, traits of personality and personality disorders in a cohort of adult KS patients with the classic 47, XXY karyotype.

Science.gov (United States)

Liberato, D; Granato, S; Grimaldi, D; Rossi, F M; Tahani, N; Gianfrilli, D; Anzuini, A; Lenzi, A; Cavaggioni, G; Radicioni, A F

2017-11-01

Klinefelter's syndrome (KS) is associated with specific neurobehavioral features and personality traits. The aim of our study was to investigate fluid intelligence, personality traits and personality disorders (PD) and possible correlations with testosterone in a cohort of adult KS patients. We analyzed 58 adult KS patients with the classic 47, XXY karyotype. The Structured Clinical Interview for axis II disorders was used to assess DSM IV personality disorders. Personality traits were assessed using MMPI-2. Fluid intelligence was tested by using Raven's Standard Progressive Matrices (SPM) Test. Testosterone blood concentration was measured by CMIA. PD prevalence was 31%. Four altered MMPI scales (Social Responsibility, Dominance, Ego Strength and Repression) were found in more than 40% of patients. Overcontrolled hostility and MacAndrew Alcoholism Scale-Revised scales were altered in the PD- group only. Biz-Odd Thinking and Post-Traumatic Stress Disorder scale were associated with the presence of personality disorder. The raw SPM score was 44 ± 10.8 without any significant correlation with testosterone. No significant difference in mean age, SPM raw score and MMPI score was observed between eugonadal, hypogonadal and treated patients. Most KS patients had average fluid intelligence. PD prevalence was higher than in the general population. Testosterone was not correlated with fluid intelligence, personality traits or PD, but a reduction in marital distress was observed in treated patients. This could suggest that testosterone therapy can improve physical symptoms and this effect could also improve relationship abilities and wellness awareness.

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

Science.gov (United States)

Midro, Alina T; Zollino, Marcella; Wiland, Ewa; Panasiuk, Barbara; Iwanowski, Piotr S; Murdolo, Marina; Śmigiel, Robert; Sąsiadek, Maria; Pilch, Jacek; Kurpisz, Maciej

2016-02-01

The purpose of this study was to compare meiotic segregation in sperm cells from two carriers with t(4;8)(p16;p23.1) reciprocal chromosome translocations (RCTs), differing in localization of the breakpoint positions at the 4p subband-namely, 4p16.3 (carrier 1) and 4p16.1 (carrier 2)-and to compare data of the pedigree analyses performed by direct method. Three-color fluorescent in situ hybridization (FISH) on sperm cells and FISH mapping for the evaluation of the breakpoint positions, data from pedigrees, and direct segregation analysis of the pedigrees were performed. Similar proportions of normal/balanced and unbalanced sperm cells were found in both carriers. The most common was an alternate type of segregation (about 52 % and about 48 %, respectively). Unbalanced adjacent I and adjacent II karyotypes were found in similar proportions about 15 %. The direct segregation analysis (following Stengel-Rutkowski) of the pedigree of carriers of t(4;8)(p16.1;p23.1) was performed and results were compared with the data of the pedigree segregation analysis obtained earlier through the indirect method. The probability of live-born progeny with unbalanced karyotype for carriers of t(4;8)(p16.1;p23.1) was moderately high at 18.8 %-comparable to the value obtained using the indirect method for the same carriership, which was 12 %. This was, however, markedly lower than the value of 41.2 % obtained through the pedigree segregation indirect analysis estimated for carriers of t(4;8)(p16.3;p23.1), perhaps due to the unique composition of genes present within the 4p16.1-4p 16.3 region. Revealed differences in pedigree segregation analysis did not correspond to the very similar profile of meiotic segregation patterns presented by carrier 1 and carrier 2. Most probably, such discordances may be due to differences in embryo survival rates arising from different genetic backgrounds.

Freefem++ in THM analyses of KBS-3 deposition hole

International Nuclear Information System (INIS)

Lempinen, A.

2006-12-01

The applicability of Freefem++ as a software for thermo-hydro-mechanical analysis of KBS-3V deposition hole was evaluated. Freefem++ is software for multiphysical simulations with finite element method. A set of previously performed analyses were successfully repeated with Freefem++. The only significant problem was to impose unique values for variables at the canister surface. This problem can be circumvented with an iterative method, and it can possibly be solved later, since Freefem++ is opensource software. (orig.)

Subgroup analyses of maraviroc in previously treated R5 HIV-1 infection

NARCIS (Netherlands)

Fätkenheuer, Gerd; Nelson, Mark; Lazzarin, Adriano; Konourina, Irina; Hoepelman, Andy I. M.; Lampiris, Harry; Hirschel, Bernard; Tebas, Pablo; Raffi, François; Trottier, Benoit; Bellos, Nicholaos; Saag, Michael; Cooper, David A.; Westby, Mike; Tawadrous, Margaret; Sullivan, John F.; Ridgway, Caroline; Dunne, Michael W.; Felstead, Steve; Mayer, Howard; van der Ryst, Elna; Angel, Jonathan; Conway, Brian; Gough, Kevin A.; Lalonde, Richard G.; Laplante, Francois; Leblanc, Roger P.; Montaner, Julio S. G.; Rachlis, Anita R.; Romanowski, Barbara; Rosser, Stuart J.; Rubinstein, Ethan; Shafran, Stephen David; Smaill, Fiona; Tremblay, Cecile; Trottier, Sylvie; Tsoukas, Christos; Walmsley, Sharon Lynn; Voskanian, Alen; Akil, Bisher; Arduino, Roberto Claudio; Asmuth, David; Beatty, George William; Becker, Stephen Lawrence; Bellos, Nicholaos C.; Blue, Sky Robert; Bolan, Robert Key; Brand, John D.; Burnazian, George Ghazaros; Prins, J. M.

2008-01-01

BACKGROUND: We conducted subanalyses of the combined results of the Maraviroc versus Optimized Therapy in Viremic Antiretroviral Treatment-Experienced Patients (MOTIVATE) 1 and MOTIVATE 2 studies to better characterize the efficacy and safety of maraviroc in key subgroups of patients. METHODS: We

Altered Brain Activity in Unipolar Depression Revisited: Meta-analyses of Neuroimaging Studies.

Science.gov (United States)

Müller, Veronika I; Cieslik, Edna C; Serbanescu, Ilinca; Laird, Angela R; Fox, Peter T; Eickhoff, Simon B

2017-01-01

During the past 20 years, numerous neuroimaging experiments have investigated aberrant brain activation during cognitive and emotional processing in patients with unipolar depression (UD). The results of those investigations, however, vary considerably; moreover, previous meta-analyses also yielded inconsistent findings. To readdress aberrant brain activation in UD as evidenced by neuroimaging experiments on cognitive and/or emotional processing. Neuroimaging experiments published from January 1, 1997, to October 1, 2015, were identified by a literature search of PubMed, Web of Science, and Google Scholar using different combinations of the terms fMRI (functional magnetic resonance imaging), PET (positron emission tomography), neural, major depression, depression, major depressive disorder, unipolar depression, dysthymia, emotion, emotional, affective, cognitive, task, memory, working memory, inhibition, control, n-back, and Stroop. Neuroimaging experiments (using fMRI or PET) reporting whole-brain results of group comparisons between adults with UD and healthy control individuals as coordinates in a standard anatomic reference space and using an emotional or/and cognitive challenging task were selected. Coordinates reported to show significant activation differences between UD and healthy controls during emotional or cognitive processing were extracted. By using the revised activation likelihood estimation algorithm, different meta-analyses were calculated. Meta-analyses tested for brain regions consistently found to show aberrant brain activation in UD compared with controls. Analyses were calculated across all emotional processing experiments, all cognitive processing experiments, positive emotion processing, negative emotion processing, experiments using emotional face stimuli, experiments with a sex discrimination task, and memory processing. All meta-analyses were calculated across experiments independent of reporting an increase or decrease of activity in

Partial deletion 11q

DEFF Research Database (Denmark)

Hertz, Jens Michael; Tommerup, N; Sørensen, F B

1995-01-01

We describe the cytogenetic findings and the dysmorphic features in a stillborn girl with a large de novo terminal deletion of the long arm of chromosome 11. The karyotype was 46,XX,del(11)(q21qter). By reviewing previous reports of deletion 11q, we found that cleft lip and palate are most...

49 CFR 173.23 - Previously authorized packaging.

Science.gov (United States)

2010-10-01

... 49 Transportation 2 2010-10-01 2010-10-01 false Previously authorized packaging. 173.23 Section... REQUIREMENTS FOR SHIPMENTS AND PACKAGINGS Preparation of Hazardous Materials for Transportation § 173.23 Previously authorized packaging. (a) When the regulations specify a packaging with a specification marking...

22 CFR 40.91 - Certain aliens previously removed.

Science.gov (United States)

2010-04-01

... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Certain aliens previously removed. 40.91... IMMIGRANTS UNDER THE IMMIGRATION AND NATIONALITY ACT, AS AMENDED Aliens Previously Removed § 40.91 Certain aliens previously removed. (a) 5-year bar. An alien who has been found inadmissible, whether as a result...

Engineering analyses of ITER divertor diagnostic rack design

Energy Technology Data Exchange (ETDEWEB)

Modestov, Victor S., E-mail: modestov@compmechlab.com [St Petersburg State Polytechnical University, 195251 St Petersburg, 29 Polytechnicheskaya (Russian Federation); Nemov, Alexander S.; Borovkov, Aleksey I.; Buslakov, Igor V.; Lukin, Aleksey V. [St Petersburg State Polytechnical University, 195251 St Petersburg, 29 Polytechnicheskaya (Russian Federation); Kochergin, Mikhail M.; Mukhin, Eugene E.; Litvinov, Andrey E.; Koval, Alexandr N. [Ioffe Physico-Technical Institute, 194021 St Petersburg, 26 Polytechnicheskaya (Russian Federation); Andrew, Philip [ITER Organization, Route de Vinon sur Verdon, 13115 Saint Paul Lez Durance (France)

2013-10-15

Highlights: • The approach developed early has been used for the assessment of new design of DTS racks and neutron shield units. • Results of most critical EM and seismic analyses indicate that introduced changes significantly improved the system behaviour under these loads. • However further research is required to finalize the design and check it upon meeting all structural, thermal, seismic, EM and fatigue requirements. -- Abstract: The divertor port racks used as a support structure of the divertor Thomson scattering equipment has been carefully analyzed to be consistent with electromagnetic and seismic loads. It follows from the foregoing simulations that namely these analyses demonstrate critical challenges associated with the structure design. Based on the results of the reference structure [2] a modified design of the diagnostic racks is proposed and updated simulation results are given. The results signify a significant improvement over the previous reference layout and the design will be continued towards finalization.

Pericentric Inversion of Human Chromosome 9 Epidemiology Study in Czech Males and Females.

Science.gov (United States)

Šípek, A; Panczak, A; Mihalová, R; Hrčková, L; Suttrová, E; Sobotka, V; Lonský, P; Kaspříková, N; Gregor, V

2015-01-01

Pericentric inversion of human chromosome 9 [inv(9)] is a relatively common cytogenetic finding. It is largely considered a clinically insignificant variant of the normal human karyotype. However, numerous studies have suggested its possible association with certain pathologies, e.g., infertility, habitual abortions or schizophrenia. We analysed the incidence of inv(9) and the spectrum of clinical indications for karyotyping among inv(9) carriers in three medical genetics departments in Prague. In their cytogenetic databases, among 26,597 total records we identified 421 (1.6 %) cases of inv(9) without any concurrent cytogenetic pathology. This study represents the world's largest epidemiological study on inv(9) to date. The incidence of inv(9) calculated in this way from diagnostic laboratory data does not differ from the incidence of inv(9) in three specific populationbased samples of healthy individuals (N = 4,166) karyotyped for preventive (amniocentesis for advanced maternal age, gamete donation) or legal reasons (children awaiting adoption). The most frequent clinical indication in inv(9) carriers was "idiopathic reproductive failure" - 37.1 %. The spectra and percentages of indications in individuals with inv(9) were further statistically evaluated for one of the departments (N = 170) by comparing individuals with inv(9) to a control group of 661 individuals with normal karyotypes without this inversion. The proportion of clinical referrals for "idiopathic reproductive failure" among inv(9) cases remains higher than in controls, but the difference is not statistically significant for both genders combined. Analysis in separated genders showed that the incidence of "idiopathic reproductive failure" could differ among inv(9) female and male carriers.

Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome

Directory of Open Access Journals (Sweden)

Alysse J. Sever, MD

2015-12-01

Full Text Available A male infant was born with a bilateral cleft lip and/or palate, absent nasal structures, left anophthalmos, right coloboma, and bilateral fifth digit clinodactly. Brain magnetic resonance imaging revealed severe asymmetric hydrocephalus, absent corpus callosum, a suprasellar mass with a high riding third ventricle, and no pituitary gland. He had a normal male karyotype and normal prenatal laboratory testing. He had no significant family history and no renal, vertebral, gastrointestinal, or cardiac malformations. This combination of central nervous system findings, ocular and craniofacial abnormalities, a normal karyotype, and limited skeletal abnormalities to our knowledge has only been previously described once in the literature in association with a disruption in Pax and Sonic Hedgehog protein pathways, and we conclude this patient represents a variant of this described syndrome.

Cytogenetic study of preleukemic phases and of acute leukemia secondary to chemo- and/or radiotherapy. Review of the literature (102 cases)

International Nuclear Information System (INIS)

Smadja, N.; Krulik, M.; Debray, J.

1982-01-01

A review of the literature upon 102 cases with cytogenetic study of preleukemic states (Prel.) and/or acute secondary leukemia (ASL) following chemotherapy and/or radiotherapy treatment has been made. The karyotype was almost always abnormal (91% of cases). There was a predominance of hypodiploidy with abnormalities including chromosome number 5 (-5 ou 5q-) and/or number 7 (7- or 7q-) (chromosomes studied with banding). The abnormalities were present in preleukemia state. The pattern of the acute secondary leukemia was particularly different from that acute leukemia de novo: high frequency of preleukemia state, ANLL type of leukemia, very bad prognosis, importance of cytogenetic abnormalities. There was a great interest in the study of the karyotype for the previous detection in ASL: this allowed their discovery as soon as the preleukemia state [fr

Effects of gamma irradiation on the karyotype of plutella xylostella l., and the histology of the testis

International Nuclear Information System (INIS)

Noran, A.M.; Nadia, M.T.K.

2002-01-01

The aim of this study is to produce semi-sterile Palatal xylo stella males that can compete with the wild males for the normal females, with the resulting progeny being sterile. Semi-sterile males were produced by exposing male pupae 24 hours before emergence to gamma (Co 60 ) irradiation at a dose of 175 Gy. The chromosome study was done through squashes of the testes with aceto-orsin staining from fourth in star larvae of the irradiated male parent, the F I males resulting from crosses between irradiated parents, from crosses between irradiated males and normal females and vice versa. For the histological study, the irradiated males were crossed with normal females to get the F Is and the resulting progeny then used to subsequently get the F2, F and F4 generations, respectively. Back crosses to the normal males or females for each of these generations were also carried out. Samples of the testes of resulting males from every cross were removed and subjected to the usual processing for preparation of glass slides using haematoxlin and eosin staining. Exposure to 175 Gy was found to be sufficient to cause chromosomal aberrations like short- and long chain formations or a combination of both as well as ring formations in the treated groups. The least number of translocations obtained were from crosses of Fl males (from normal male x irradiated female) with normal females while the highest from F Is resulting from crosses between both irradiated parents. Cytological changes observed in the testes of the Fl generation included emergence of vacuoles in place of germ cells, displacement of spermatocytes from the periphery to the center of the testes and disintegration of spermatocytes and spermatozoal bundles. However, the damages were not permanent as recovery were detected in testes from subsequent generations. It is likely that the effects of gamma irradiation on the karyotype and histology of the testis of the males are determined by the female parent as recovery

Clinical presentation of acute coronary syndrome in patients previously treated with nitrates.

Science.gov (United States)

Latour-Pérez, Jaime; Gómez-Tello, Vicente; Fuset-Cabanes, María Paz; Balsa, Eva de Miguel; Sáez, Frutos Del Nogal; Orts, Francisco Javier Coves; Rodríguez, Carmen Martín; Pino-Izquierdo, Karel; Pesquera, María de la Concepción Pavía; Rodríguez, Antonio José Montón

2013-11-01

Several reports have suggested that nitrates limit acute ischaemic damage by a mechanism similar to preconditioning. This study aims to evaluate the effect of chronic oral nitrates on the clinical presentation and short-term outcomes of patients admitted with acute coronary syndrome (ACS). A retrospective cohort study was conducted in patients with ACS admitted to 62 acute care units from 2010 to 2011. A propensity score-matched samples analysis was performed. We analysed 3171 consecutive patients, of whom 298 (9.4%) were chronically treated with nitrates. Patients previously treated with nitrates had higher comorbidity and disease severity at admission, lower prevalence of ACS with ST elevation, lower troponin elevation, higher prevalence of initial Killip class 2-4 and higher hospital mortality. The propensity score-matched analysis confirmed that previous use of nitrates is independently associated with a lower prevalence of ST-elevation ACS [odds ratio (OR) 0.53, 95% confidence interval (CI) 0.36-0.78; P = 0.0014] and a lower troponin elevation (OR 0.61, 95% CI 0.41-0.92) but not with Killip class on admission (OR 1.18, 95% CI 0.83-1.67, P = 0.3697) or mortality (OR 0.71, 95% CI 0.37-1.38, P = 0.3196). The results support the hypothesis that nitrates have a protective effect on acute ischaemic injury.

Status on DEMO Helium Cooled Lithium Lead breeding blanket thermo-mechanical analyses

Energy Technology Data Exchange (ETDEWEB)

Aubert, J., E-mail: julien.aubert@cea.fr [CEA-Saclay, DEN, DM2S, F-91191 Gif-sur-Yvette (France); Aiello, G.; Jaboulay, J.-C. [CEA-Saclay, DEN, DM2S, F-91191 Gif-sur-Yvette (France); Kiss, B. [Institute of Nuclear Techniques, Budapest University of Technology and Economics, Budapest (Hungary); Morin, A. [CEA-Saclay, DEN, DM2S, F-91191 Gif-sur-Yvette (France)

2016-11-01

Highlights: • CEA with the support of Wigner-RCP and IPP-CR, is in charge of the design of the HCLL blanket for DEMO. The DEMO HCLL breeding blanket design capitalizes on the experience acquired on the HCLL Test Blanket Module designed for ITER. Design improvements are being implemented to adapt the design to DEMO specifications and performance objectives. • Thermal and mechanical analyses have been carried out in order to justify the design of the HCLL breeding blanket showing promising results for tie rods modules’ attachments system and relatively good behavior of the box in case of LOCA when comparing to RCC-MRx criteria. • CFD thermal analyses on generic breeding unit have enabled the consolidation of the results obtained with previous FEM design analyses. - Abstract: The EUROfusion Consortium develops a design of a fusion power demonstrator (DEMO) in the framework of the European “Horizon 2020” innovation and research program. One of the key components in the fusion reactor is the breeding blanket surrounding the plasma, ensuring tritium self-sufficiency, heat removal for conversion into electricity, and neutron shielding. The Helium Cooled Lithium Lead (HCLL) blanket is one of the concepts which is investigated for DEMO. It is made of a Eurofer structure and uses the eutectic liquid lithium–lead as tritium breeder and neutron multiplier, and helium gas as coolant. Within the EUROfusion organization, CEA with the support of Wigner-RCP and IPP-CR, is in charge of the design of the HCLL blanket for DEMO. This paper presents the status of the thermal and mechanical analyses carried out on the HCLL breeding blanket in order to justify the design. CFD thermal analyses on generic breeding unit including stiffening plates and cooling plates have been performed with ANSYS in order to consolidate results obtained with previous FEM design analyses. Moreover in order to expand the justification of the HCLL Breeding blanket design, the most loaded area of

Issues and approaches in risk-based aging analyses of passive components

International Nuclear Information System (INIS)

Uryasev, S.P.; Samanta, P.K.; Vesely, W.E.

1994-01-01

In previous NRC-sponsored work a general methodology was developed to quantify the risk contributions from aging components at nuclear plants. The methodology allowed Probabilistic Risk Analyses (PRAs) to be modified to incorporate the age-dependent component failure rates and also aging maintenance models to evaluate and prioritize the aging contributions from active components using the linear aging failure rate model and empirical components aging rates. In the present paper, this methodology is extended to passive components (for example, the pipes, heat exchangers, and the vessel). The analyses of passive components bring in issues different from active components. Here, we specifically focus on three aspects that need to be addressed in risk-based aging prioritization of passive components

Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes

DEFF Research Database (Denmark)

Aksglaede, L.; Skakkebaek, N.E.; Juul, A.

2008-01-01

CONTEXT: Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles. AIM: The aim of the study was to evaluate the role of abnormal chromosome constitution...... and elevated LH levels after puberty, whereas the sex hormone secretion of the 47,XYY boys remained normal. CONCLUSION: We found accelerated growth in early childhood in boys with 47,XXY and 47,XYY karyotypes, whereas 46,XX-males were shorter than controls. These abnormal growth patterns were not reflected...

Meiotic and mitotic analyses of a reciprocal translocation in pisum sativum

International Nuclear Information System (INIS)

Muller, D.

1974-01-01

After X-irradiation of air-dried seeds of Pisum sativum, mutant 210 A was selected on the basis of the characteristic 'low number of seeds per pod', that segregates during following generations. Studies of pollen show a reduced fertility of 49.4% in about 50% of the plants. In meiotic metaphase I association of 4 chromosomes were observed in about 90% PMC in which more than half showed co-orientation of centromeres. A 3:1 segregation of the 4 linking chromosomes appeared in about 24% of all cases. Laggards, bridges and fragments reached a frequency of 11% in anaphase II. Seed production per pod in 2 vegetative periods varied from 63-67%; seed setting per plant fluctuated in the same year, between 55% and 43%. The analysis of karyotype proved the presumption of a simple reciprocal translocation. The exchange occurred between the long arms of the chromosomes 3 and 5. The break position is believed to be situated near the centromers of chromosome 3 and the lower half of the long arm of chromosome 5. (author)

Manufacturing of Nanostructured Rings from Previously ECAE-Processed AA5083 Alloy by Isothermal Forging

Directory of Open Access Journals (Sweden)

C. J. Luis

2013-01-01

Full Text Available The manufacturing of a functional hollow mechanical element or ring of the AA5083 alloy previously equal channel angular extrusion (ECAE processed, which presents a submicrometric microstructure, is dealt with. For this purpose, the design of two isothermal forging dies (preform and final shape is carried out using the design of experiments (DOE methodology. Moreover, after manufacturing the dies and carrying out tests so as to achieve real rings, the mechanical properties of these rings are analysed as well as their microstructure. Furthermore, a comparison between the different forged rings is made from ECAE-processed material subjected to different heat treatments, previous to the forging stage. On the other hand, the ring forging process is modelled through the use of finite element simulation in order to improve the die design and to study the force required for the isothermal forging, the damage value, and the strain the material predeformed by ECAE has undergone. With this present research work, it is intended to improve the knowledge about the mechanical properties of nanostructured material and the applicability of this material to industrial processes that allow the manufacturing of functional parts.

Structure of the nucleoli in domestic cattle spermatocytes.

Science.gov (United States)

Andraszek, Katarzyna; Smalec, Elżbieta

2012-10-08

The work was aimed at determining the number and morphology of nucleoli in the prophase of the first meiotic division in domestic cattle males. The use of AgNO₃ staining, commonly applied in cytogenetics for the identification of nucleolar organiser regions, made it possible to identify nucleoli in first-order spermatocytes. One nucleolus was identified in each analysed cell. Considerable morphological differentiation of the nucleoli during the prophase of the first meiotic division, particularly in leptotene, unobserved in other farm animal species, was noticed. Dark-hued grain-like structures were found within the disintegrating nucleoli, corresponding approximately or exactly to the number of the nucleolar organiser regions in the domestic cattle karyotype. Dark areas were identified in the selected prometaphase chromosomes. Their number corresponded with the number of active NORs defined in the domestic cattle karyotype.

A new chromosomal race of the house mouse, Mus musculus domesticus, in the Vulcano Island-Aeolian Archipelago, Italy.

Science.gov (United States)

Solano, Emanuela; Castiglia, Riccardo; Corti, Marco

2007-07-01

In this paper we describe a new Robertsonian (Rb) race of the house mouse from Vulcano (Aeolian archipelago) through the identification of the metacentric chromosomes. We analysed fifteen mice. All the specimens were found to have the same karyotype 2n=26. This karyotype is characterized by Rb(1.2), Rb(3.9), Rb(4.13), Rb(5.14), Rb(8.12), Rb(10.16) and Rb(15.17). The differences between the race of Vulcano and the races in a neighbour island (Lipari) consist in the presence of Rb(10.16) and Rb(15.17) in the former and Rb(6.16) and Rb(10.15) in the latter. We discuss the possible hypotheses regarding the origin between these two races including the possible occurrence of a whole arm reciprocal translocation (WART) on the Vulcano island.

A data management program for the Electra 800 automatic analyser.

Science.gov (United States)

Cambus, J P; Nguyen, F; de Graeve, J; Aragon, B; Valdiguie, P

1994-10-01

The Electra 800 automatic coagulation analyser rapidly performs most chronometric coagulation tests with high precision. To facilitate data handling, software, adaptable to any PC running under MS-DOS, was written to manage the analyser. Data are automatically collected via the RS232 interface or can be manually input. The software can handle 64 different analyses, all entirely 'user defined'. An 'electronic worksheet' presents the results in pages of ten patients. This enables the operator to assess the data and to perform verifications or complementary tests if necessary. All results outside a predetermined range can be flagged and results can be deleted, modified or added. A patient's previous files can be recalled as the data are archived at the end of the day. A 120 Mb disk can store approximately 130,000 patient files. A daily archive function can print the day's work in alphabetical order. A communication protocol allows connection to a mainframe computer. This program and the user's manual are available on request, free of charge, from the authors.

Stress analyses of ITER toroidal field coils under fault conditions

International Nuclear Information System (INIS)

Jong, C.T.J.

1990-02-01

The International Thermonuclear Experimental Reactor (ITER) is intended as an experimental thermonuclear tokamak reactor for testing the basic physics, performance and technologies essential to future fusion reactors. The ITER design will be based on extensive new design work, supported by new physical and technological results, and on the great body of experience built up over several years from previous national and international reactor studies. Conversely, the ITER design process should provide the fusion community with valuable insights into what key areas need further development or clarification as we move forward towards practical fusion power. As part of the design process of the ITER toroidal field coils the mechanical behaviour of the magnetic system under fault conditions has to be analysed in more detail. This paper describes the work carried out to create a detailed finite element model of two toroidal field coils as well as some results of linear elastic analyses with fault conditions. The analyses have been performed with the finite element code ANSYS. (author). 5 refs.; 8 figs.; 2 tabs

Economic impact of feeding a phenylalanine-restricted diet to adults with previously untreated phenylketonuria.

Science.gov (United States)

Brown, M C; Guest, J F

1999-02-01

The aim of the present study was to estimate the direct healthcare cost of managing adults with previously untreated phenylketonuria (PKU) for one year before any dietary restrictions and for the first year after a phenylalanine- (PHE-) restricted diet was introduced. The resource use and corresponding costs were estimated from medical records and interviews with health care professionals experienced in caring for adults with previously untreated PKU. The mean annual cost of caring for a client being fed an unrestricted diet was estimated to be 83 996 pound silver. In the first year after introducing a PHE-restricted diet, the mean annual cost was reduced by 20 647 pound silver to 63 348 pound silver as a result of a reduction in nursing time, hospitalizations, outpatient clinic visits and medications. However, the economic benefit of the diet depended on whether the clients were previously high or low users of nursing care. Nursing time was the key cost-driver, accounting for 79% of the cost of managing high users and 31% of the management cost for low users. In contrast, the acquisition cost of a PHE-restricted diet accounted for up to 6% of the cost for managing high users and 15% of the management cost for low users. Sensitivity analyses showed that introducing a PHE-restricted diet reduces the annual cost of care, provided that annual nursing time was reduced by more than 8% or more than 5% of clients respond to the diet. The clients showed fewer negative behaviours when being fed a PHE-restricted diet, which may account for the observed reduction in nursing time needed to care for these clients. In conclusion, feeding a PHE-restricted diet to adults with previously untreated PKU leads to economic benefits to the UK's National Health Service and society in general.

Is Previous Respiratory Disease a Risk Factor for Lung Cancer?

Science.gov (United States)

Denholm, Rachel; Schüz, Joachim; Straif, Kurt; Stücker, Isabelle; Jöckel, Karl-Heinz; Brenner, Darren R.; De Matteis, Sara; Boffetta, Paolo; Guida, Florence; Brüske, Irene; Wichmann, Heinz-Erich; Landi, Maria Teresa; Caporaso, Neil; Siemiatycki, Jack; Ahrens, Wolfgang; Pohlabeln, Hermann; Zaridze, David; Field, John K.; McLaughlin, John; Demers, Paul; Szeszenia-Dabrowska, Neonila; Lissowska, Jolanta; Rudnai, Peter; Fabianova, Eleonora; Dumitru, Rodica Stanescu; Bencko, Vladimir; Foretova, Lenka; Janout, Vladimir; Kendzia, Benjamin; Peters, Susan; Behrens, Thomas; Vermeulen, Roel; Brüning, Thomas; Kromhout, Hans

2014-01-01

Rationale: Previous respiratory diseases have been associated with increased risk of lung cancer. Respiratory conditions often co-occur and few studies have investigated multiple conditions simultaneously. Objectives: Investigate lung cancer risk associated with chronic bronchitis, emphysema, tuberculosis, pneumonia, and asthma. Methods: The SYNERGY project pooled information on previous respiratory diseases from 12,739 case subjects and 14,945 control subjects from 7 case–control studies conducted in Europe and Canada. Multivariate logistic regression models were used to investigate the relationship between individual diseases adjusting for co-occurring conditions, and patterns of respiratory disease diagnoses and lung cancer. Analyses were stratified by sex, and adjusted for age, center, ever-employed in a high-risk occupation, education, smoking status, cigarette pack-years, and time since quitting smoking. Measurements and Main Results: Chronic bronchitis and emphysema were positively associated with lung cancer, after accounting for other respiratory diseases and smoking (e.g., in men: odds ratio [OR], 1.33; 95% confidence interval [CI], 1.20–1.48 and OR, 1.50; 95% CI, 1.21–1.87, respectively). A positive relationship was observed between lung cancer and pneumonia diagnosed 2 years or less before lung cancer (OR, 3.31; 95% CI, 2.33–4.70 for men), but not longer. Co-occurrence of chronic bronchitis and emphysema and/or pneumonia had a stronger positive association with lung cancer than chronic bronchitis “only.” Asthma had an inverse association with lung cancer, the association being stronger with an asthma diagnosis 5 years or more before lung cancer compared with shorter. Conclusions: Findings from this large international case–control consortium indicate that after accounting for co-occurring respiratory diseases, chronic bronchitis and emphysema continue to have a positive association with lung cancer. PMID:25054566

Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.

Science.gov (United States)

Dietze, Ilona; Fritz, Barbara; Huhle, Dagmar; Simoens, Wouter; Piecha, Ernestine; Rehder, Helga

2004-01-01

Wolf-Hirschhorn (4p-) syndrome (WHS), caused by partial deletion of the short arm of chromosome 4, has been extensively described in children and young adults. Knowledge on fetuses with WHS is still limited due to the small number of published cases. We report on a fetus with prenatally diagnosed severe intrauterine growth retardation, reduced thoracal diameter, clubfeet deformity and midface hypoplasia including slight microretrognathia indicative for fetal karyotyping. Chromosome analysis after amniocentesis revealed a de novo terminal deletion of chromosome 4p [karyotype: 46,XX,del(4) (p16)] which was confirmed by FISH. Analyses of a set of polymorphic markers mapping in 4pter->4p15.3 showed absence of paternal haplotypes. These observations corroborate the preferential paternal origin of the de novo 4p deletion in WHS patients. Furthermore, the distal breakpoint could be narrowed to band 4p16.1. At autopsy, the fetus showed typical craniofacial dysmorphic signs of WHS, severe IUGR and delayed bone age. This report suggests the possibility of recognising the particular phenotype of WHS in utero by prenatal ultrasound and emphasises the importance of karyotyping fetuses with severe IUGR, especially when the amount of amniotic fluid is normal. Copyright 2004 S. Karger AG, Basel

Multigene analyses resolve early diverging lineages in the Rhodymeniophycidae (Florideophyceae, Rhodophyta).

Science.gov (United States)

Saunders, Gary W; Filloramo, Gina; Dixon, Kyatt; Le Gall, Line; Maggs, Christine A; Kraft, Gerald T

2016-08-01

Multigene phylogenetic analyses were directed at resolving the earliest divergences in the red algal subclass Rhodymeniophycidae. The inclusion of key taxa (new to science and/or previously lacking molecular data), additional sequence data (SSU, LSU, EF2, rbcL, COI-5P), and phylogenetic analyses removing the most variable sites (site stripping) have provided resolution for the first time at these deep nodes. The earliest diverging lineage within the subclass was the enigmatic Catenellopsis oligarthra from New Zealand (Catenellopsidaceae), which is here placed in the Catenellopsidales ord. nov. In our analyses, Atractophora hypnoides was not allied with the other included Bonnemaisoniales, but resolved as sister to the Peyssonneliales, and is here assigned to Atractophoraceae fam. nov. in the Atractophorales ord. nov. Inclusion of Acrothesaurum gemellifilum gen. et sp. nov. from Tasmania has greatly improved our understanding of the Acrosymphytales, to which we assign three families, the Acrosymphytaceae, Acrothesauraceae fam. nov. and Schimmelmanniaceae fam. nov. © 2016 Phycological Society of America.

Cointegration Approach to Analysing Inflation in Croatia

Directory of Open Access Journals (Sweden)

Lena Malešević-Perović

2009-06-01

Full Text Available The aim of this paper is to analyse the determinants of inflation in Croatia in the period 1994:6-2006:6. We use a cointegration approach and find that increases in wages positively influence inflation in the long-run. Furthermore, in the period from June 1994 onward, the depreciation of the currency also contributed to inflation. Money does not explain Croatian inflation. This irrelevance of the money supply is consistent with its endogeneity to exchange rate targeting, whereby the money supply is determined by developments in the foreign exchange market. The value of inflation in the previous period is also found to be significant, thus indicating some inflation inertia.

IL4 gene polymorphism and previous malaria experiences manipulate anti-Plasmodium falciparum antibody isotype profiles in complicated and uncomplicated malaria

Directory of Open Access Journals (Sweden)

Kalambaheti Thareerat

2009-12-01

Full Text Available Abstract Background The IL4-590 gene polymorphism has been shown to be associated with elevated levels of anti-Plasmodium falciparum IgG antibodies and parasite intensity in the malaria protected Fulani of West Africa. This study aimed to investigate the possible impact of IL4-590C/T polymorphism on anti-P. falciparum IgG subclasses and IgE antibodies levels and the alteration of malaria severity in complicated and uncomplicated malaria patients with or without previous malaria experiences. Methods Anti-P.falciparum IgG subclasses and IgE antibodies in plasma of complicated and uncomplicated malaria patients with or without previous malaria experiences were analysed using ELISA. IL4-590 polymorphisms were genotyped using RFLP-PCR. Statistical analyses of the IgG subclass levels were done by Oneway ANOVA. Genotype differences were tested by Chi-squared test. Results The IL4-590T allele was significantly associated with anti-P. falciparum IgG3 antibody levels in patients with complicated (P = 0.031, but not with uncomplicated malaria (P = 0.622. Complicated malaria patients with previous malaria experiences carrying IL4-590TT genotype had significantly lower levels of anti-P. falciparum IgG3 (P = 0.0156, while uncomplicated malaria patients with previous malaria experiences carrying the same genotype had significantly higher levels (P = 0.0206 compared to their IL4-590 counterparts. The different anti-P. falciparum IgG1 and IgG3 levels among IL4 genotypes were observed. Complicated malaria patients with previous malaria experiences tended to have lower IgG3 levels in individuals carrying TT when compared to CT genotypes (P = 0.075. In contrast, complicated malaria patients without previous malaria experiences carrying CC genotype had significantly higher anti-P. falciparum IgG1 than those carrying either CT or TT genotypes (P = 0.004, P = 0.002, respectively. Conclusion The results suggest that IL4-590C or T alleles participated differently in the

Hydatidiform mole and fetus with normal karyotype: support of a separate entity

DEFF Research Database (Denmark)

Vejerslev, L O; Sunde, L; Hansen, B F

1991-01-01

Repetitive hydatidiform mole was observed in four pregnancies. The pregnancies presented with heavy bleeding and vomiting, but the post-evacuation courses were uncomplicated, with rapid regression of serum hCG levels. Cytogenetic investigations, analyses of restriction fragment length polymorphis...

Impact of previously disadvantaged land-users on sustainable ...

African Journals Online (AJOL)

Impact of previously disadvantaged land-users on sustainable agricultural ... about previously disadvantaged land users involved in communal farming systems ... of input, capital, marketing, information and land use planning, with effect on ...

Karyoevolutionary and karyosystematic considerations on ...

African Journals Online (AJOL)

welcome

2012-07-17

Jul 17, 2012 ... niger revealed a karyotype (Figure 1a) formula of 24 metacentric + 32 ..... ancestral karyotype as it evolved into new lines (Winkler et al., 2004) and are .... biological explanation of karyotypic fission theory. Proc. Natl. Acad. Sci.

Determining root correspondence between previously and newly detected objects

Science.gov (United States)

Paglieroni, David W.; Beer, N Reginald

2014-06-17

A system that applies attribute and topology based change detection to networks of objects that were detected on previous scans of a structure, roadway, or area of interest. The attributes capture properties or characteristics of the previously detected objects, such as location, time of detection, size, elongation, orientation, etc. The topology of the network of previously detected objects is maintained in a constellation database that stores attributes of previously detected objects and implicitly captures the geometrical structure of the network. A change detection system detects change by comparing the attributes and topology of new objects detected on the latest scan to the constellation database of previously detected objects.

Regulatory analyses for severe accident issues: an example

International Nuclear Information System (INIS)

Burke, R.P.; Strip, D.R.; Aldrich, D.C.

1984-09-01

This report presents the results of an effort to develop a regulatory analysis methodology and presentation format to provide information for regulatory decision-making related to severe accident issues. Insights and conclusions gained from an example analysis are presented. The example analysis draws upon information generated in several previous and current NRC research programs (the Severe Accident Risk Reduction Program (SARRP), Accident Sequence Evaluation Program (ASEP), Value-Impact Handbook, Economic Risk Analyses, and studies of Vented Containment Systems and Alternative Decay Heat Removal Systems) to perform preliminary value-impact analyses on the installation of either a vented containment system or an alternative decay heat removal system at the Peach Bottom No. 2 plant. The results presented in this report are first-cut estimates, and are presented only for illustrative purposes in the context of this document. This study should serve to focus discussion on issues relating to the type of information, the appropriate level of detail, and the presentation format which would make a regulatory analysis most useful in the decisionmaking process

Cytogenetic characterization and AFLP-based genetic linkage mapping for the butterfly Bicyclus anynana, covering all 28 karyotyped chromosomes.

Directory of Open Access Journals (Sweden)

Arjen E Van't Hof

Full Text Available BACKGROUND: The chromosome characteristics of the butterfly Bicyclus anynana, have received little attention, despite the scientific importance of this species. This study presents the characterization of chromosomes in this species by means of cytogenetic analysis and linkage mapping. METHODOLOGY/PRINCIPAL FINDINGS: Physical genomic features in the butterfly B. anynana were examined by karyotype analysis and construction of a linkage map. Lepidoptera possess a female heterogametic W-Z sex chromosome system. The WZ-bivalent in pachytene oocytes of B. anynana consists of an abnormally small, heterochromatic W-chromosome with the Z-chromosome wrapped around it. Accordingly, the W-body in interphase nuclei is much smaller than usual in Lepidoptera. This suggests an intermediate stage in the process of secondary loss of the W-chromosome to a ZZ/Z sex determination system. Two nucleoli are present in the pachytene stage associated with an autosome and the WZ-bivalent respectively. Chromosome counts confirmed a haploid number of n = 28. Linkage mapping had to take account of absence of crossing-over in females, and of our use of a full-sib crossing design. We developed a new method to determine and exclude the non-recombinant uninformative female inherited component in offspring. The linkage map was constructed using a novel approach that uses exclusively JOINMAP-software for Lepidoptera linkage mapping. This approach simplifies the mapping procedure, avoids over-estimation of mapping distance and increases the reliability of relative marker positions. A total of 347 AFLP markers, 9 microsatellites and one single-copy nuclear gene covered all 28 chromosomes, with a mapping distance of 1354 cM. Conserved synteny of Tpi on the Z-chromosome in Lepidoptera was confirmed for B. anynana. The results are discussed in relation to other mapping studies in Lepidoptera. CONCLUSIONS/SIGNIFICANCE: This study adds to the knowledge of chromosome structure and

Comprehensive high-resolution genomic profiling and cytogenetics of human chondrocyte cultures by GTG-banding, locus-specific FISH, SKY and SNP array.

Science.gov (United States)

Wallenborn, M; Petters, O; Rudolf, D; Hantmann, H; Richter, M; Ahnert, P; Rohani, L; Smink, J J; Bulwin, G C; Krupp, W; Schulz, R M; Holland, H

2018-04-23

In the development of cell-based medicinal products, it is crucial to guarantee that the application of such an advanced therapy medicinal product (ATMP) is safe for the patients. The consensus of the European regulatory authorities is: "In conclusion, on the basis of the state of art, conventional karyotyping can be considered a valuable and useful technique to analyse chromosomal stability during preclinical studies". 408 chondrocyte samples (84 monolayers and 324 spheroids) from six patients were analysed using trypsin-Giemsa staining, spectral karyotyping and fluorescence in situ hybridisation, to evaluate the genetic stability of an ATMP named Spherox®. Single nucleotide polymorphism (SNP) array analysis was performed on chondrocyte spheroids from five of the six donors. Applying this combination of techniques, the genetic analyses performed revealed no significant genetic instability until passage 3 in monolayer cells and interphase cells from spheroid cultures at different time points. Clonal occurrence of polyploid metaphases and endoreduplications were identified associated with prolonged cultivation time. Also, gonosomal losses were observed in chondrocyte spheroids, with increasing passage and duration of the differentiation phase. Interestingly, in one of the donors, chromosomal aberrations that are also described in extraskeletal myxoid chondrosarcoma were identified. The SNP array analysis exhibited chromosomal aberrations in two donors and copy neutral losses of heterozygosity regions in four donors. This study showed the necessity of combined genetic analyses at defined cultivation time points in quality studies within the field of cell therapy.

Identification of ectopic ovotestis in a dog with XX ovotesticular, SRY-negative, disorder of sexual development.

Science.gov (United States)

Diel de Amorim, M; Lerer, A; Durzi, T; Foster, R A; Gartley, C J

2018-06-01

A 1-year-old, previously spayed phenotypic female Poodle/Soft-coated Wheaten Terrier (Whoodle) cross was presented for a suspected ovarian remnant. Serum luteinizing hormone (LH) concentration was below the detection limit (XX karyotype, thus confirming the diagnosis of ectopic ovotestis in a XX ovotesticular, SRY-negative, disorder of sexual development in a dog. © 2018 Blackwell Verlag GmbH.

Mortality and cardiovascular risk associated with different insulin secretagogues compared with metformin in type 2 diabetes, with or without a previous myocardial infarction: a nationwide study

DEFF Research Database (Denmark)

Schramm, Tina Ken; Gislason, Gunnar Hilmar; Vaag, Allan

2011-01-01

Aims The impact of insulin secretagogues (ISs) on long-term major clinical outcomes in type 2 diabetes remains unclear. We examined mortality and cardiovascular risk associated with all available ISs compared with metformin in a nationwide study. Methods and results All Danish residents >20 years......, initiating single-agent ISs or metformin between 1997 and 2006 were followed for up to 9 years (median 3.3 years) by individual-level linkage of nationwide registers. All-cause mortality, cardiovascular mortality, and the composite of myocardial infarction (MI), stroke, and cardiovascular mortality...... associated with individual ISs were investigated in patients with or without previous MI by multivariable Cox proportional-hazard analyses including propensity analyses. A total of 107 806 subjects were included, of whom 9607 had previous MI. Compared with metformin, glimepiride (hazard ratios and 95...

Erlotinib-induced rash spares previously irradiated skin

International Nuclear Information System (INIS)

Lips, Irene M.; Vonk, Ernest J.A.; Koster, Mariska E.Y.; Houwing, Ronald H.

2011-01-01

Erlotinib is an epidermal growth factor receptor inhibitor prescribed to patients with locally advanced or metastasized non-small cell lung carcinoma after failure of at least one earlier chemotherapy treatment. Approximately 75% of the patients treated with erlotinib develop acneiform skin rashes. A patient treated with erlotinib 3 months after finishing concomitant treatment with chemotherapy and radiotherapy for non-small cell lung cancer is presented. Unexpectedly, the part of the skin that had been included in his previously radiotherapy field was completely spared from the erlotinib-induced acneiform skin rash. The exact mechanism of erlotinib-induced rash sparing in previously irradiated skin is unclear. The underlying mechanism of this phenomenon needs to be explored further, because the number of patients being treated with a combination of both therapeutic modalities is increasing. The therapeutic effect of erlotinib in the area of the previously irradiated lesion should be assessed. (orig.)

Karyotype characterization of Mugil incilis Hancock, 1830 (Mugiliformes: Mugilidae, including a description of an unusual co-localization of major and minor ribosomal genes in the family

Directory of Open Access Journals (Sweden)

Anne Kathrin Hett

Full Text Available This study reports the description of the karyotype of Mugil incilis from Venezuela. The chromosome complement is composed of 48 acrocentric chromosomes, which uniformly decrease in size. Therefore, the homologues can not be clearly identified, with the exception of one of the largest chromosome pairs, classified as number 1, whose homologues may show a subcentromeric secondary constriction, and of chromosome pair number 24, which is considerably smaller than the others. C-banding showed heterochromatic blocks at the centromeric/pericentromeric regions of all chromosomes, which were more conspicuous on chromosomes 1, given the C-positive signals include the secondary constrictions. AgNO3 and fluorescent in situ hybridization (FISH with 45S rDNA demonstrated that the nucleolus organizer regions are indeed located on the secondary constrictions of chromosome pair number 1. FISH with 5S rDNA revealed that the minor ribosomal genes are located on this same chromosome pair, near the NORs, though signals are closer to the centromeres and of smaller size, compared to those of the major ribosomal gene clusters. This is the first description of co-localization of major and minor ribosomal genes in the family. Data are discussed from a cytotaxonomic and phylogenetic perspective.

Electroencephalographic power and coherence analyses suggest altered brain function in abstinent male heroin-dependent patients

NARCIS (Netherlands)

Franken, Ingmar H. A.; Stam, Cornelis J.; Hendriks, Vincent M.; van den Brink, Wim

2004-01-01

Previous studies have shown that drug abuse is associated with altered brain function. However, studies of heroin abuse-related brain dysfunctions are scarce. Electroencephalographic ( EEG) power and coherence analyses are two important tools for examining the effects of drugs on brain function. In

Chemical analyses of waters from geysers, hot springs, and pools in Yellowstone National Park, Wyoming from 1974 to 1978

Energy Technology Data Exchange (ETDEWEB)

Thompson, J.M.; Yadav, S.

1979-01-01

Waters from geysers, hot springs, and pools of Yellowstone National Park have been analyzed. We report 422 complete major ion analyses from 330 different locations of geysers, hot springs, and pools, collected from 1974 to 1978. Many of the analyses from Upper, Midway, Lower, and Norris Geyser Basin are recollections of features previously reported.

Repeat immigration: A previously unobserved source of heterogeneity?

Science.gov (United States)

Aradhya, Siddartha; Scott, Kirk; Smith, Christopher D

2017-07-01

Register data allow for nuanced analyses of heterogeneities between sub-groups which are not observable in other data sources. One heterogeneity for which register data is particularly useful is in identifying unique migration histories of immigrant populations, a group of interest across disciplines. Years since migration is a commonly used measure of integration in studies seeking to understand the outcomes of immigrants. This study constructs detailed migration histories to test whether misclassified migrations may mask important heterogeneities. In doing so, we identify a previously understudied group of migrants called repeat immigrants, and show that they differ systematically from permanent immigrants. In addition, we quantify the degree to which migration information is misreported in the registers. The analysis is carried out in two steps. First, we estimate income trajectories for repeat immigrants and permanent immigrants to understand the degree to which they differ. Second, we test data validity by cross-referencing migration information with changes in income to determine whether there are inconsistencies indicating misreporting. From the first part of the analysis, the results indicate that repeat immigrants systematically differ from permanent immigrants in terms of income trajectories. Furthermore, income trajectories differ based on the way in which years since migration is calculated. The second part of the analysis suggests that misreported migration events, while present, are negligible. Repeat immigrants differ in terms of income trajectories, and may differ in terms of other outcomes as well. Furthermore, this study underlines that Swedish registers provide a reliable data source to analyze groups which are unidentifiable in other data sources.

Candidate gene association analyses for ketosis resistance in Holsteins.

Science.gov (United States)

Kroezen, V; Schenkel, F S; Miglior, F; Baes, C F; Squires, E J

2018-06-01

High-yielding dairy cattle are susceptible to ketosis, a metabolic disease that negatively affects the health, fertility, and milk production of the cow. Interest in breeding for more robust dairy cattle with improved resistance to disease is global; however, genetic evaluations for ketosis would benefit from the additional information provided by genetic markers. Candidate genes that are proposed to have a biological role in the pathogenesis of ketosis were investigated in silico and a custom panel of 998 putative single nucleotide polymorphism (SNP) markers was developed. The objective of this study was to test the associations of these new markers with deregressed estimated breeding values (EBV) for ketosis. A sample of 653 Canadian Holstein cows that had been previously genotyped with a medium-density SNP chip were regenotyped with the custom panel. The EBV for ketosis in first and later lactations were obtained for each animal and deregressed for use as pseudo-phenotypes for association analyses. Results of the mixed inheritance model for single SNP association analyses suggested 15 markers in 6 unique candidate genes were associated with the studied trait. Genes encoding proteins involved in metabolic processes, including the synthesis and degradation of fatty acids and ketone bodies, gluconeogenesis, lipid mobilization, and the citric acid cycle, were identified to contain SNP associated with ketosis resistance. This work confirmed the presence of previously described quantitative trait loci for dairy cattle, suggested novel markers for ketosis-resistance, and provided insight into the underlying biology of this disease. Copyright © 2018 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX.

Science.gov (United States)

Choi, Sun Ah; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won; Choi, Jin Sun; Oh, Sun Kyung

2013-08-01

Monozygotic twins, developed from a single zygote, are almost identical in clinical phenotype and concordant karyotypes. Monozygotic twins with discordant karyotypes are thought to be quite rare. Here, we report monochorionic-diamniotic twins discordant for Down syndrome. On findings of prenatal ultrasonography, nuchal translucency thickness was different between twins, and suggested that one of the twins was at high risk for having chromosomal abnormalities including Down syndrome. The twins were monochorionic-diamniotic; therefore, chorionic villi sampling of the common placenta was performed. The karyotype of the chorionic villi cells was 46,XX, and pregnancy was maintained. After delivery, dysmorphic clinical features suggesting Down syndrome were found in one of the twins, while the other twin showed a morphologically normal appearance. Karyotypes of peripheral blood leukocytes were repeatedly normal in the dysmorphic twin; however, the karyotype of skin fibroblasts from the dysmorphic twin indicated Down syndrome mosaicism; 47,XX,+21[99]/46,XX[2]. The karyotype of skin fibroblasts from the morphologically normal twin was 46,XX. Monozygosity of the twins was confirmed by a short tandem repeat analysis using 16 polymorphic markers. A mitotic nondisjunction followed by the twinning would explain the discordant karyotypes between monozygotic twins.

Automatic electromagnetic valve for previous vacuum

International Nuclear Information System (INIS)

Granados, C. E.; Martin, F.

1959-01-01

A valve which permits the maintenance of an installation vacuum when electric current fails is described. It also lets the air in the previous vacuum bomb to prevent the oil ascending in the vacuum tubes. (Author)

Structure of the nucleoli in domestic cattle spermatocytes

Directory of Open Access Journals (Sweden)

Katarzyna Andraszek

2012-10-01

Full Text Available

The work was aimed at determining the number and morphology of nucleoli in the prophase of the first meiotic division in domestic cattle males. The use of AgNO₃ staining, commonly applied in cytogenetics for the identification of nucleolar organiser regions, made it possible to identify nucleoli in first-order spermatocytes. One nucleolus was identified in each analysed cell. Considerable morphological differentiation of the nucleoli during the prophase of the first meiotic division, particularly in leptotene, unobserved in other farm animal species, was noticed. Dark-hued grain-like structures were found within the disintegrating nucleoli, corresponding approximately or exactly to the number of the nucleolar organiser regions in the domestic cattle karyotype. Dark areas were identified in the selected prometaphase chromosomes. Their number corresponded with the number of active NORs defined in the domestic cattle karyotype.

LOD score exclusion analyses for candidate QTLs using random population samples.

Science.gov (United States)

Deng, Hong-Wen

2003-11-01

While extensive analyses have been conducted to test for, no formal analyses have been conducted to test against, the importance of candidate genes as putative QTLs using random population samples. Previously, we developed an LOD score exclusion mapping approach for candidate genes for complex diseases. Here, we extend this LOD score approach for exclusion analyses of candidate genes for quantitative traits. Under this approach, specific genetic effects (as reflected by heritability) and inheritance models at candidate QTLs can be analyzed and if an LOD score is < or = -2.0, the locus can be excluded from having a heritability larger than that specified. Simulations show that this approach has high power to exclude a candidate gene from having moderate genetic effects if it is not a QTL and is robust to population admixture. Our exclusion analysis complements association analysis for candidate genes as putative QTLs in random population samples. The approach is applied to test the importance of Vitamin D receptor (VDR) gene as a potential QTL underlying the variation of bone mass, an important determinant of osteoporosis.

Stuttering, induced fluency, and natural fluency: a hierarchical series of activation likelihood estimation meta-analyses.

Science.gov (United States)

Budde, Kristin S; Barron, Daniel S; Fox, Peter T

2014-12-01

Developmental stuttering is a speech disorder most likely due to a heritable form of developmental dysmyelination impairing the function of the speech-motor system. Speech-induced brain-activation patterns in persons who stutter (PWS) are anomalous in various ways; the consistency of these aberrant patterns is a matter of ongoing debate. Here, we present a hierarchical series of coordinate-based meta-analyses addressing this issue. Two tiers of meta-analyses were performed on a 17-paper dataset (202 PWS; 167 fluent controls). Four large-scale (top-tier) meta-analyses were performed, two for each subject group (PWS and controls). These analyses robustly confirmed the regional effects previously postulated as "neural signatures of stuttering" (Brown, Ingham, Ingham, Laird, & Fox, 2005) and extended this designation to additional regions. Two smaller-scale (lower-tier) meta-analyses refined the interpretation of the large-scale analyses: (1) a between-group contrast targeting differences between PWS and controls (stuttering trait); and (2) a within-group contrast (PWS only) of stuttering with induced fluency (stuttering state). Copyright © 2014 Elsevier Inc. All rights reserved.

Karyological analysis of Proechimys cuvieri and Proechimys guyannensis (Rodentia, Echimyidae from central Amazon

Directory of Open Access Journals (Sweden)

Carlos Eduardo Faresin e Silva

2012-01-01

Full Text Available The aim was to characterize the karyotype of rodents of the genus Proechimys from three localities in the central Brazilian Amazon, in the search for new markers that might shed light on our understanding of the taxonomy and evolutionary history of this taxon. Two karyotypes were found, viz., 2n = 28, FN = 46 in individuals from the NRSP (Cuieiras River and REMAN (Manaus, and 2n = 46, FN = 50 in individuals from the Balbina Hydroelectric Plant. While individuals with the karyotype with 2n = 28 chromosomes were morphologically associated with Proechimys cuvieri, their karyotype shared similarities with those of the same diploid number in two other regions. Although three karyotypes are described for Proechimys cuvieri, no geographic distribution pattern that defined a cline could be identified. Based on the morphological examination of voucher specimens and additional results from molecular analysis, the karyotype with 2n = 46 and FN = 50 could be associated with P. guyannensis.

Karyological analysis of Proechimys cuvieri and Proechimys guyannensis (Rodentia, Echimyidae) from central Amazon.

Science.gov (United States)

E Silva, Carlos Eduardo Faresin; Eler, Eduardo Schmidt; da Silva, Maria Nazareth F; Feldberg, Eliana

2012-01-01

The aim was to characterize the karyotype of rodents of the genus Proechimys from three localities in the central Brazilian Amazon, in the search for new markers that might shed light on our understanding of the taxonomy and evolutionary history of this taxon. Two karyotypes were found, viz., 2n = 28, FN = 46 in individuals from the NRSP (Cuieiras River) and REMAN (Manaus), and 2n = 46, FN = 50 in individuals from the Balbina Hydroelectric Plant. While individuals with the karyotype with 2n = 28 chromosomes were morphologically associated with Proechimys cuvieri, their karyotype shared similarities with those of the same diploid number in two other regions. Although three karyotypes are described for Proechimys cuvieri, no geographic distribution pattern that defined a cline could be identified. Based on the morphological examination of voucher specimens and additional results from molecular analysis, the karyotype with 2n = 46 and FN = 50 could be associated with P. guyannensis.

Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.

Science.gov (United States)

Baldinotti, Fulvia; Cavallaro, Tiziana; Dati, Eleonora; Baroncelli, Giampiero I; Bertini, Veronica; Valetto, Angelo; Massart, Francesco; Fabrizi, Gian Maria; Zanette, Giampietro; Peroni, Diego; Bertelloni, Silvano

2018-01-01

In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. Clinical records of 12 patients with 46,XY GD and unknown genetic background were reviewed and a 46,XY woman with peripheral neuropathy was individuated. Her 46,XX sister affected by similar neuropathy was also investigated. Genomic DNA was extracted and DHH exons sequenced and analyzed. A comparative genomic hybridization array was also performed. In both the 46,XY and 46,XX sisters, a homozygous c.554C>A mutation in exon 2 of the DHH gene was found, determining a premature termination codon (p.Ser 185*). Heterozygous consanguineous carrier parents showed neither reproductive problems nor peripheral neuropathy. In the proband and her sister, a 499-kb duplication in 9p22.1 was also found. A 46,XY European woman with 46,XY GD and a novel homozygous DHH pathogenic variant is reported, confirming that this gene plays a key role in male gonadal development. Her 46,XX sister, harboring the same mutation, showed normal internal and external female phenotype. Thus, DHH seems not to be involved in the ovarian development pathway or its postpubertal function. Homozygous DHH mutations cause a specific peripheral neuropathy in humans with both 46,XY and 46,XX karyotypes. © 2018 S. Karger AG, Basel.

Target gene analyses of 39 amelogenesis imperfecta kindreds

Science.gov (United States)

Chan, Hui-Chen; Estrella, Ninna M. R. P.; Milkovich, Rachel N.; Kim, Jung-Wook; Simmer, James P.; Hu, Jan C-C.

2012-01-01

Previously, mutational analyses identified six disease-causing mutations in 24 amelogenesis imperfecta (AI) kindreds. We have since expanded the number of AI kindreds to 39, and performed mutation analyses covering the coding exons and adjoining intron sequences for the six proven AI candidate genes [amelogenin (AMELX), enamelin (ENAM), family with sequence similarity 83, member H (FAM83H), WD repeat containing domain 72 (WDR72), enamelysin (MMP20), and kallikrein-related peptidase 4 (KLK4)] and for ameloblastin (AMBN) (a suspected candidate gene). All four of the X-linked AI families (100%) had disease-causing mutations in AMELX, suggesting that AMELX is the only gene involved in the aetiology of X-linked AI. Eighteen families showed an autosomal-dominant pattern of inheritance. Disease-causing mutations were identified in 12 (67%): eight in FAM83H, and four in ENAM. No FAM83H coding-region or splice-junction mutations were identified in three probands with autosomal-dominant hypocalcification AI (ADHCAI), suggesting that a second gene may contribute to the aetiology of ADHCAI. Six families showed an autosomal-recessive pattern of inheritance, and disease-causing mutations were identified in three (50%): two in MMP20, and one in WDR72. No disease-causing mutations were found in 11 families with only one affected member. We conclude that mutation analyses of the current candidate genes for AI have about a 50% chance of identifying the disease-causing mutation in a given kindred. PMID:22243262

Comprehensive genetic characterization of CLL: a study on 506 cases analysed with chromosome banding analysis, interphase FISH, IgV(H) status and immunophenotyping.

Science.gov (United States)

Haferlach, C; Dicker, F; Schnittger, S; Kern, W; Haferlach, T

2007-12-01

In CLL data from chromosome banding analysis (CBA) have been scarce due to the low proliferative activity of CLL cells in vitro. We improved the cultivation technique using an immunostimulatory CpG-oligonucleotide DSP30 and IL-2. A total of 506 CLL samples were analysed with CBA and interphase FISH using probes for the detection of trisomy 12, IgH rearrangements and deletions of 6q21, 11q22.3 (ATM), 13q14 (D13S25 and D13S319) and 17p13 (TP53). A total of 500 of 506 (98.8%) cases were successfully stimulated for metaphase generation and are subject to this study. Aberrations were detected in 415 of 500 (83.0%) cases by CBA and in 392 of 500 (78.4%) cases by FISH. CBA detected 832 abnormalities and FISH only 502. Therefore, CBA offers important information in addition to FISH. (1) CLL is characterized mainly by genomic imbalances and reciprocal translocations are rare. (2) A subgroup with complex aberrant karyotype (16.4%) is identified which is associated with an unmutated IgV(H) status and CD38 expression (P=0.034 and 0.02, respectively). (3) Additional abnormalities are detectable providing new biological insights into different CLL subclasses revealing a much more heterogeneous pattern of cytogenetic abnormalities as assumed so far based on FISH data only. Therefore, prospective clinical trials should evaluate the prognostic impact of newly available CBA data.

Conclusive meta-analyses on antenatal magnesium may be inconclusive! Are we underestimating the risk of random error?

DEFF Research Database (Denmark)

Brok, Jesper; Huusom, Lene D; Thorlund, Kristian

2012-01-01

Results from meta-analyses significantly influence clinical practice. Both simulation and empirical studies have demonstrated that the risk of random error (i.e. spurious chance findings) in meta-analyses is much higher than previously anticipated. Hence, authors and users of systematic reviews a...... about the investigated intervention effect(s). We outline the rationale for conducting trial sequential analysis including some examples of the meta-analysis on antenatal magnesium for women at risk of preterm birth....

Phylogeographic analyses of the pampas cat (Leopardus colocola; Carnivora, Felidae) reveal a complex demographic history

Science.gov (United States)

da Silva Santos, Anelisie; Trigo, Tatiane Campos; de Oliveira, Tadeu Gomes; Silveira, Leandro

2018-01-01

Abstract The pampas cat is a small felid that occurs in open habitats throughout much of South America. Previous studies have revealed intriguing patterns of morphological differentiation and genetic structure among its populations, as well as molecular evidence for hybridization with the closely related L. tigrinus. Here we report phylogeographic analyses encompassing most of its distribution (focusing particularly on Brazilian specimens, which had been poorly sampled in previous studies), using a novel dataset comprising 2,143 bp of the mitogenome, along with previously reported mtDNA sequences. Our data revealed strong population strutucture and supported a west-to-east colonization process in this species’ history. We detected two population expansion events, one older (ca. 200 thousand years ago [kya]) in western South America and another more recent (ca. 60-50 kya) in eastern areas, coinciding with the expansion of savanna environments in Brazil. Analyses including L. tigrinus individuals bearing introgressed mtDNA from L. colocola showed a complete lack of shared haplotypes between species, indicating that their hybridization was ancient. Finally, we observed a close relationship between Brazilian/Uruguayan L. colocola haplotypes and those sampled in L. tigrinus, indicating that their hybridization was likely related to the demographic expansion of L. colocola into eastern South America. PMID:29668017

Morfología del cariotipo de Luma apiculata (DC.) Burret (Myrtaceae)

OpenAIRE

Jara-Seguel, Pedro; Cárcamo-Fincheira, Paz; Palma-Rojas, Claudio; von Brand, Elisabeth

2013-01-01

Luma apiculata (DC.) Burret, had a symmetric karyotype, with 2n = 22 small sized chromosomes, ranging between 2.2 μηι and 0.8 μηι. The haploid karyotype formula was 9m + 2sm = 11. These karyotype characteristics of L. apiculata are a common character within Myrtaceae.

A whole-brain gray and white matter analysis in children with 45XO karyotype Turner syndrome: voxel-based morphometry

International Nuclear Information System (INIS)

Zhao Qiuling; Zhang Zhixin; Cheng Pangui; Xie Sheng; Liu Xiwei; Pan Hui; Li Kang; Zhang Jiaying; Gong Gaolang

2013-01-01

Objective: To detect the structural changes of cerebral gray and white matter in children of monosomy Turner syndrome (TS) by using voxel-based morphometry (VBM). Methods: Nine children 45XO karyotype TS and 20 age-matched control girls were recruited in this study. Wechsler intelligence scale for children was used to obtain their intelligence quotients (IQ). High-resolution magnetic MR imaging was performed in TS children and control girls to collect the whole brain structural data. The data were analyzed by VBM based on SPM 8 to compare the volume of gray and white matter between the TS children and normal controls by using covariance analysis. Results: The IQ of TS children was 81 ± 13, and the IQ of the controls was 109 ± 16. Statistical analysis revealed significant difference of IQ between the two groups (t = -4.70, P < 0.05). Compared with normal controls, TS children showed significantly decreased volume (numbers of voxel in clusters were 631, 525, 520, t = 3.95, 3.50, 3.36, P < 0.05, FWE-corrected) in the gray matter of the right superior parietal lobule, postcentral gyrus, precuneus lobule, calcarine, cuneus cortices, as well as the left middle and inferior occipital lobe. However, the volume of the bilateral supplemental motor area and the medial superior frontal lobes, the right middle cingulum, the left superior, middle, and inferior temporal gyri were increased in the TS children compared to the controls. The left fusiform, the left parahippocampus, the left hippocampus and the left cerebellum were also enlarged in TS children (numbers of voxel in clusters were 2082, 974, 1708, 588, 579, t = 5.45, 4.59, 4.40, 4.29, 3.55, P < 0.05, FWE-corrected). White matter regions in the left postcentral gyrus and inferior parietal lobule showed significantly reduced volume (voxel number 957, t = 5.85, P < 0.05, FWE-corrected). Conclusion: Children with monosomy TS show abnormal gray and white matter volumes in some brain regions, which may be involved in the

Genomic characterisation of Arachis porphyrocalyx (Valls & C.E. Simpson, 2005) (Leguminosae): multiple origin of Arachis species with x = 9

Science.gov (United States)

Celeste, Silvestri María; Ortiz, Alejandra Marcela; Robledo, Germán Ariel; Valls, José Francisco Montenegro; Lavia, Graciela Inés

2017-01-01

Abstract The genus Arachis Linnaeus, 1753 comprises four species with x = 9, three belong to the section Arachis: Arachis praecox (Krapov. W.C. Greg. & Valls, 1994), Arachis palustris (Krapov. W.C. Greg. & Valls, 1994) and Arachis decora (Krapov. W.C. Greg. & Valls, 1994) and only one belongs to the section Erectoides: Arachis porphyrocalyx (Valls & C.E. Simpson, 2005). Recently, the x = 9 species of section Arachis have been assigned to G genome, the latest described so far. The genomic relationship of Arachis porphyrocalyx with these species is controversial. In the present work, we carried out a karyotypic characterisation of Arachis porphyrocalyx to evaluate its genomic structure and analyse the origin of all x = 9 Arachis species. Arachis porphyrocalyx showed a karyotype formula of 14m+4st, one pair of A chromosomes, satellited chromosomes type 8, one pair of 45S rDNA sites in the SAT chromosomes, one pair of 5S rDNA sites and pericentromeric C-DAPI+ bands in all chromosomes. Karyotype structure indicates that Arachis porphyrocalyx does not share the same genome type with the other three x = 9 species and neither with the remaining Erectoides species. Taking into account the geographic distribution, morphological and cytogenetic features, the origin of species with x = 9 of the genus Arachis cannot be unique; instead, they originated at least twice in the evolutionary history of the genus. PMID:28919947

Citogenética de Piper hispidinervum e Piper aduncum Cytogenetics of Piper hispidinervum and Piper aduncum

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Juliane Dornellas Nunes

2007-07-01

Full Text Available O objetivo deste trabalho foi detectar diferenças entre duas espécies de pimenta-longa por meio de análise de cariótipos. Foram analisados cinco acessos de Piper hispidinervum (Piperaceae C. DC. e Piper aduncum L. (Piperaceae pertencentes à coleção de germoplasma da Embrapa Acre, utilizando-se o método de esmagamento e coloração de Feulgen. As duas espécies apresentaram número cromossômico 2n = 24 e cromossomos pequenos e metacêntricos com comprimento médio de 1,38 µm em P. hispidinervum e 1,32 µm em P. aduncum. Pelos descritores citogenéticos obtidos não há diferença entre as duas espécies.The aim of this work was to detect differences between two species of long pepper by karyotypic analysis. Five acessions of Piper hispidinervum C. DC. (Piperaceae and Piper aduncum L. (Piperaceae, belonging to germplasm collection of Embrapa Acre, were analysed using squashing technique and Feulgen staining. The chromosome number observed for both species was 2n = 24 and karyotype presented small metacentric chromossomes, with average length of 1.38 µm in P. hispidinervum and 1.32 µm in P. aduncum. Karyotypic descriptions pointed out that the species are not different.

Refining cost-effectiveness analyses using the net benefit approach and econometric methods: an example from a trial of anti-depressant treatment.

Science.gov (United States)

Sabes-Figuera, Ramon; McCrone, Paul; Kendricks, Antony

2013-04-01

Economic evaluation analyses can be enhanced by employing regression methods, allowing for the identification of important sub-groups and to adjust for imperfect randomisation in clinical trials or to analyse non-randomised data. To explore the benefits of combining regression techniques and the standard Bayesian approach to refine cost-effectiveness analyses using data from randomised clinical trials. Data from a randomised trial of anti-depressant treatment were analysed and a regression model was used to explore the factors that have an impact on the net benefit (NB) statistic with the aim of using these findings to adjust the cost-effectiveness acceptability curves. Exploratory sub-samples' analyses were carried out to explore possible differences in cost-effectiveness. Results The analysis found that having suffered a previous similar depression is strongly correlated with a lower NB, independent of the outcome measure or follow-up point. In patients with previous similar depression, adding an selective serotonin reuptake inhibitors (SSRI) to supportive care for mild-to-moderate depression is probably cost-effective at the level used by the English National Institute for Health and Clinical Excellence to make recommendations. This analysis highlights the need for incorporation of econometric methods into cost-effectiveness analyses using the NB approach.

Secondary recurrent miscarriage is associated with previous male birth.

LENUS (Irish Health Repository)

Ooi, Poh Veh

2012-01-31

Secondary recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses after delivery of a viable infant. Previous reports suggest that a firstborn male child is associated with less favourable subsequent reproductive potential, possibly due to maternal immunisation against male-specific minor histocompatibility antigens. In a retrospective cohort study of 85 cases of secondary RM we aimed to determine if secondary RM was associated with (i) gender of previous child, maternal age, or duration of miscarriage history, and (ii) increased risk of pregnancy complications. Fifty-three women (62.0%; 53\\/85) gave birth to a male child prior to RM compared to 32 (38.0%; 32\\/85) who gave birth to a female child (p=0.002). The majority (91.7%; 78\\/85) had uncomplicated, term deliveries and normal birth weight neonates, with one quarter of the women previously delivered by Caesarean section. All had routine RM investigations and 19.0% (16\\/85) had an abnormal result. Fifty-seven women conceived again and 33.3% (19\\/57) miscarried, but there was no significant difference in failure rates between those with a previous male or female child (13\\/32 vs. 6\\/25, p=0.2). When patients with abnormal results were excluded, or when women with only one previous child were considered, there was still no difference in these rates. A previous male birth may be associated with an increased risk of secondary RM but numbers preclude concluding whether this increases recurrence risk. The suggested association with previous male birth provides a basis for further investigations at a molecular level.

Secondary recurrent miscarriage is associated with previous male birth.

LENUS (Irish Health Repository)

Ooi, Poh Veh

2011-01-01

Secondary recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses after delivery of a viable infant. Previous reports suggest that a firstborn male child is associated with less favourable subsequent reproductive potential, possibly due to maternal immunisation against male-specific minor histocompatibility antigens. In a retrospective cohort study of 85 cases of secondary RM we aimed to determine if secondary RM was associated with (i) gender of previous child, maternal age, or duration of miscarriage history, and (ii) increased risk of pregnancy complications. Fifty-three women (62.0%; 53\\/85) gave birth to a male child prior to RM compared to 32 (38.0%; 32\\/85) who gave birth to a female child (p=0.002). The majority (91.7%; 78\\/85) had uncomplicated, term deliveries and normal birth weight neonates, with one quarter of the women previously delivered by Caesarean section. All had routine RM investigations and 19.0% (16\\/85) had an abnormal result. Fifty-seven women conceived again and 33.3% (19\\/57) miscarried, but there was no significant difference in failure rates between those with a previous male or female child (13\\/32 vs. 6\\/25, p=0.2). When patients with abnormal results were excluded, or when women with only one previous child were considered, there was still no difference in these rates. A previous male birth may be associated with an increased risk of secondary RM but numbers preclude concluding whether this increases recurrence risk. The suggested association with previous male birth provides a basis for further investigations at a molecular level.

Impact of Previous Pharmacy Work Experience on Pharmacy School Academic Performance

Science.gov (United States)

Mar, Ellena; T-L Tang, Terrill; Sasaki-Hill, Debra; Kuperberg, James R.; Knapp, Katherine

2010-01-01

Objectives To determine whether students' previous pharmacy-related work experience was associated with their pharmacy school performance (academic and clinical). Methods The following measures of student academic performance were examined: pharmacy grade point average (GPA), scores on cumulative high-stakes examinations, and advanced pharmacy practice experience (APPE) grades. The quantity and type of pharmacy-related work experience each student performed prior to matriculation was solicited through a student survey instrument. Survey responses were correlated with academic measures, and demographic-based stratified analyses were conducted. Results No significant difference in academic or clinical performance between those students with prior pharmacy experience and those without was identified. Subanalyses by work setting, position type, and substantial pharmacy work experience did not reveal any association with student performance. A relationship was found, however, between age and work experience, ie, older students tended to have more work experience than younger students. Conclusions Prior pharmacy work experience did not affect students' overall academic or clinical performance in pharmacy school. The lack of significant findings may have been due to the inherent practice limitations of nonpharmacist positions, changes in pharmacy education, and the limitations of survey responses. PMID:20498735

Impact of previous pharmacy work experience on pharmacy school academic performance.

Science.gov (United States)

Mar, Ellena; Barnett, Mitchell J; T-L Tang, Terrill; Sasaki-Hill, Debra; Kuperberg, James R; Knapp, Katherine

2010-04-12

To determine whether students' previous pharmacy-related work experience was associated with their pharmacy school performance (academic and clinical). The following measures of student academic performance were examined: pharmacy grade point average (GPA), scores on cumulative high-stakes examinations, and advanced pharmacy practice experience (APPE) grades. The quantity and type of pharmacy-related work experience each student performed prior to matriculation was solicited through a student survey instrument. Survey responses were correlated with academic measures, and demographic-based stratified analyses were conducted. No significant difference in academic or clinical performance between those students with prior pharmacy experience and those without was identified. Subanalyses by work setting, position type, and substantial pharmacy work experience did not reveal any association with student performance. A relationship was found, however, between age and work experience, ie, older students tended to have more work experience than younger students. Prior pharmacy work experience did not affect students' overall academic or clinical performance in pharmacy school. The lack of significant findings may have been due to the inherent practice limitations of nonpharmacist positions, changes in pharmacy education, and the limitations of survey responses.

Clonal chromosomal and genomic instability during human multipotent mesenchymal stromal cells long-term culture.

Directory of Open Access Journals (Sweden)

Victoria Nikitina

Full Text Available Spontaneous mutagenesis often leads to appearance of genetic changes in cells. Although human multipotent mesenchymal stromal cells (hMSC are considered as genetically stable, there is a risk of genomic and structural chromosome instability and, therefore, side effects of cell therapy associated with long-term effects. In this study, the karyotype, genetic variability and clone formation analyses have been carried out in the long-term culture MSC from human gingival mucosa.The immunophenotype of MSC has been examined using flow cytofluorometry and short tandem repeat (STR analysis has been carried out for authentication. The karyotype has been examined using GTG staining and mFISH, while the assessment of the aneuploidy 8 frequency has been performed using centromere specific chromosome FISH probes in interphase cells.The immunophenotype and STR loci combination did not change during the process of cultivation. From passage 23 the proliferative activity of cultured MSCs was significantly reduced. From passage 12 of cultivation, clones of cells with stable chromosome aberrations have been identified and the biggest of these (12% are tetrasomy of chromosome 8. The random genetic and structural chromosomal aberrations and the spontaneous level of chromosomal aberrations in the hMSC long-term cultures were also described.The spectrum of spontaneous chromosomal aberrations in MSC long-term cultivation has been described. Clonal chromosomal aberrations have been identified. A clone of cells with tetrasomy 8 has been detected in passage 12 and has reached the maximum size by passage 18 before and decreased along with the reduction of proliferative activity of cell line by passage 26. At later passages, the MSC line exhibited a set of cells with structural variants of the karyotype with a preponderance of normal diploid cells. The results of our study strongly suggest a need for rigorous genetic analyses of the clone formation in cultured MSCs before

Loss-of-coolant accident analyses of the Advanced Neutron Source Reactor

International Nuclear Information System (INIS)

Chen, N.C.J.; Yoder, G.L.; Wendel, M.W.

1991-01-01

Currently in the conceptual design stage, the Advanced Neutron Source Reactor (ANSR) will operate at a high heat flux, a high mass flux, an a high degree of coolant subcooling. Loss-of-coolant accident (LOCA) analyses using RELAP5 have been performed as part of an early evaluation of ANSR safety issues. This paper discusses the RELAP5 ANSR conceptual design system model and preliminary LOCA simulation results. Some previous studies were conducted for the preconceptual design. 12 refs., 7 figs

High resolution karyotype of Thai crab-eating macaque (Macaca fascicularis

Directory of Open Access Journals (Sweden)

Fan Xiaobo

2014-01-01

Full Text Available Comparative chromosome banding analysis and/or fluorescence in situ hybridization (FISH studies are established approaches to compare human and ape chromosomes. FISH banding is a relatively new and not routinely applied method very well suited to provide to a better understanding of the evolutionary history of primate and human phylogeny. Here multicolor banding (MCB-applying probes derived from Homo sapiens were used to analyze the chromosomes of Thai crab-eating macaque (Macaca fascicularis. The results agree with those of previous studies in other macaques, e.g. Macaca sylvanus or Macaca nemestrina. This result highlights that morphological differences within the Cercopithecoidea must be found rather in subchromosomal changes or even in epigenetics than in gross structural alterations.

Not para-, not peri-, but centric inversion of chromosome 12

DEFF Research Database (Denmark)

Silahtaroglu, A N; Hacihanefioglu, S; Güven, G S

1998-01-01

a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodicentric chromosome. Further FISH analyses using telomeric and subtelomeric probes showed that the other breakpoint was in the subtelomeric region of the short arm. The karyotype is designated 47,XXY,inv(12......)(p10p13.3). To our knowledge this is the first report of a case of "centric inversion"....

Reverse arthroplasty for osteoarthritis and rotator cuff deficiency after previous surgery for recurrent anterior shoulder instability.

Science.gov (United States)

Raiss, Patric; Zeifang, Felix; Pons-Villanueva, Juan; Smithers, Christopher J; Loew, Markus; Walch, Gilles

2014-07-01

Osteoarthritis in combination with rotator cuff deficiency following previous shoulder stabilisation surgery and after failed surgical treatment for chronic anterior shoulder dislocation is a challenging condition. The aim of this study was to analyse the results of reverse shoulder arthroplasty in such patients. Thirteen patients with a median follow-up of 3.5 (range two to eight) years and a median age of 70 (range 48-82) years were included. In all shoulders a tear of at least one rotator cuff tendon in combination with osteoarthritis was present at the time of arthroplasty. The Constant score, shoulder flexion and external and internal rotation with the elbow at the side were documented pre-operatively and at the final follow-up. Pre-operative, immediate post-operative and final follow-up radiographs were analysed. All complications and revisions were documented. Twelve patients were either satisfied or very satisfied with the procedure. The median Constant score increased from 26 points pre-operatively to 67 points at the final follow-up (p = 0.001). The median shoulder flexion increased significantly from 70° to 130° and internal rotation from two to four points (p = 0.002). External rotation did not change significantly (p = 0.55). Glenoid notching was present in five cases and was graded as mild in three cases and moderate in two. One complication occurred leading to revision surgery. Reverse arthroplasty leads to high satisfaction rates for patients with osteoarthritis and rotator cuff deficiency who had undergone previous shoulder stabilisation procedures. The improvements in clinical outcome as well as the radiographic results seem to be comparable with those of other studies reporting on the outcome of reverse shoulder arthroplasty for other conditions.

Previous Mental Disorders and Subsequent Onset of Chronic Back or Neck Pain: Findings From 19 Countries.

Science.gov (United States)

Viana, Maria Carmen; Lim, Carmen C W; Garcia Pereira, Flavia; Aguilar-Gaxiola, Sergio; Alonso, Jordi; Bruffaerts, Ronny; de Jonge, Peter; Caldas-de-Almeida, Jose Miguel; O'Neill, Siobhan; Stein, Dan J; Al-Hamzawi, Ali; Benjet, Corina; Cardoso, Graça; Florescu, Silvia; de Girolamo, Giovanni; Haro, Josep Maria; Hu, Chiyi; Kovess-Masfety, Viviane; Levinson, Daphna; Piazza, Marina; Posada-Villa, José; Rabczenko, Daniel; Kessler, Ronald C; Scott, Kate M

2018-01-01

Associations between depression/anxiety and pain are well established, but its directionality is not clear. We examined the associations between temporally previous mental disorders and subsequent self-reported chronic back/neck pain onset, and investigated the variation in the strength of associations according to timing of events during the life course, and according to gender. Data were from population-based household surveys conducted in 19 countries (N = 52,095). Lifetime prevalence and age of onset of 16 mental disorders according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, and the occurrence and age of onset of back/neck pain were assessed using the Composite International Diagnostic Interview. Survival analyses estimated the associations between first onset of mental disorders and subsequent back/neck pain onset. All mental disorders were positively associated with back/neck pain in bivariate analyses; most (12 of 16) remained so after adjusting for psychiatric comorbidity, with a clear dose-response relationship between number of mental disorders and subsequent pain. Early-onset disorders were stronger predictors of pain; when adjusting for psychiatric comorbidity, this remained the case for depression/dysthymia. No gender differences were observed. In conclusion, individuals with mental disorder, beyond depression and anxiety, are at higher risk of developing subsequent back/neck pain, stressing the importance of early detection of mental disorders, and highlight the need of assessing back/neck pain in mental health clinical settings. Previous mental disorders according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition are positively associated with subsequent back/neck pain onset, with a clear dose-response relationship between number of mental disorders and subsequent pain. Earlier-onset mental disorders are stronger predictors of subsequent pain onset, compared with later-onset disorders

LOFT experimental measurements uncertainty analyses. Volume XX. Fluid-velocity measurement using pulsed-neutron activation

International Nuclear Information System (INIS)

Lassahn, G.D.; Taylor, D.J.N.

1982-08-01

Analyses of uncertainty components inherent in pulsed-neutron-activation (PNA) measurements in general and the Loss-of-Fluid-Test (LOFT) system in particular are given. Due to the LOFT system's unique conditions, previously-used techniques were modified to make the volocity measurement. These methods render a useful, cost-effective measurement with an estimated uncertainty of 11% of reading

The effect of warm-up, static stretching and dynamic stretching on hamstring flexibility in previously injured subjects

Directory of Open Access Journals (Sweden)

Murray Elaine

2009-04-01

Full Text Available Abstract Background Warm-up and stretching are suggested to increase hamstring flexibility and reduce the risk of injury. This study examined the short-term effects of warm-up, static stretching and dynamic stretching on hamstring flexibility in individuals with previous hamstring injury and uninjured controls. Methods A randomised crossover study design, over 2 separate days. Hamstring flexibility was assessed using passive knee extension range of motion (PKE ROM. 18 previously injured individuals and 18 uninjured controls participated. On both days, four measurements of PKE ROM were recorded: (1 at baseline; (2 after warm-up; (3 after stretch (static or dynamic and (4 after a 15-minute rest. Participants carried out both static and dynamic stretches, but on different days. Data were analysed using Anova. Results Across both groups, there was a significant main effect for time (p 0.05. Using ANCOVA to adjust for the non-significant (p = 0.141 baseline difference between groups, the previously injured group demonstrated a greater response to warm-up and static stretching, however this was not statistically significant (p = 0.05. Conclusion Warm-up significantly increased hamstring flexibility. Static stretching also increased hamstring flexibility, whereas dynamic did not, in agreement with previous findings on uninjured controls. The effect of warm-up and static stretching on flexibility was greater in those with reduced flexibility post-injury, but this did not reach statistical significance. Further prospective research is required to validate the hypothesis that increased flexibility improves outcomes. Trial Registration ACTRN12608000638336

Uterine CD56dim and CD16+ Cells in Refractory Antiphospholipid Antibody-Related Pregnancy Loss and Chromosomally Intact Abortuses: A Case–Control Study

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Mostafa F Gomaa

2017-01-01

Full Text Available Aim: To evaluate the role of uterine natural killer (uNK CD56dim and CD16+ cells in patients with refractory antiphospholipid, antibody-mediated, recurrent, pregnancy loss. Settings and Design: A case–control study was conducted between 2012 and 2015 at a university hospital. Patients and Methods: A group of 118 women with a history of antiphospholipid antibody syndrome experiencing fetal loss in spite of low dose aspirin (LDA and low molecular weight heparin (LMWH treatment in the current pregnancy were included in this study. A group of 32 patients undergoing an elective termination of viable pregnancies before 20 weeks were taken as controls. Suction evacuation was performed to collect abortus specimens, and uterine wall curettage was performed to collect decidua specimens, which were then stained using monoclonal antibodies specific to CD56 and CD16. Statistics: Statistical analyses were performed using the Statistical Package for the Social Sciences version 18 software. Chi-square and Fisher exact tests were used for making comparison between the groups. Results: Abnormal fetal karyotype was found in nine (9/97 cases of the study group, which means that abnormal karyotype accounts for only 9.3% of the causes of failure of treatment. Abnormal karyotype was found in four cases of the control group. Only cases with normal karyotyping were subjected to decidual uNK cells analysis. We found that CD56dim and CD16+ were found in the decidua of 79 cases (79/97, which means that aberrant natural killer cells expression might account for 81.4% of the cases of refractory antiphospholipid antibody (APA-mediated recurrent pregnancy loss. Conclusion: CD56dim and CD16+uNK cells might be correlated with refractory APA-mediated recurrent pregnancy loss.

Induction of polyploidy by nuclear fusion mechanism upon decreased expression of the nuclear envelope protein LAP2β in the human osteosarcoma cell line U2OS.

Science.gov (United States)

Ben-Shoshan, Shirley Oren; Simon, Amos J; Jacob-Hirsch, Jasmine; Shaklai, Sigal; Paz-Yaacov, Nurit; Amariglio, Ninette; Rechavi, Gideon; Trakhtenbrot, Luba

2014-01-28

Polyploidy has been recognized for many years as an important hallmark of cancer cells. Polyploid cells can arise through cell fusion, endoreplication and abortive cell cycle. The inner nuclear membrane protein LAP2β plays key roles in nuclear envelope breakdown and reassembly during mitosis, initiation of replication and transcriptional repression. Here we studied the function of LAP2β in the maintenance of cell ploidy state, a role which has not yet been assigned to this protein. By knocking down the expression of LAP2β, using both viral and non-viral RNAi approaches in osteosarcoma derived U2OS cells, we detected enlarged nuclear size, nearly doubling of DNA content and chromosomal duplications, as analyzed by fluorescent in situ hybridization and spectral karyotyping methodologies. Spectral karyotyping analyses revealed that near-hexaploid karyotypes of LAP2β knocked down cells consisted of not only seven duplicated chromosomal markers, as could be anticipated by genome duplication mechanism, but also of four single chromosomal markers. Furthermore, spectral karyotyping analysis revealed that both of two near-triploid U2OS sub-clones contained the seven markers that were duplicated in LAP2β knocked down cells, whereas the four single chromosomal markers were detected only in one of them. Gene expression profiling of LAP2β knocked down cells revealed that up to a third of the genes exhibiting significant changes in their expression are involved in cancer progression. Our results suggest that nuclear fusion mechanism underlies the polyploidization induction upon LAP2β reduced expression. Our study implies on a novel role of LAP2β in the maintenance of cell ploidy status. LAP2β depleted U2OS cells can serve as a model to investigate polyploidy and aneuploidy formation by nuclear fusion mechanism and its involvement in cancerogenesis.

A new automated assign and analysing method for high-resolution rotationally resolved spectra using genetic algorithms

NARCIS (Netherlands)

Meerts, W.L.; Schmitt, M.

2006-01-01

This paper describes a numerical technique that has recently been developed to automatically assign and fit high-resolution spectra. The method makes use of genetic algorithms (GA). The current algorithm is compared with previously used analysing methods. The general features of the GA and its

Reoperative sentinel lymph node biopsy after previous mastectomy.

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Karam, Amer; Stempel, Michelle; Cody, Hiram S; Port, Elisa R

2008-10-01

Sentinel lymph node (SLN) biopsy is the standard of care for axillary staging in breast cancer, but many clinical scenarios questioning the validity of SLN biopsy remain. Here we describe our experience with reoperative-SLN (re-SLN) biopsy after previous mastectomy. Review of the SLN database from September 1996 to December 2007 yielded 20 procedures done in the setting of previous mastectomy. SLN biopsy was performed using radioisotope with or without blue dye injection superior to the mastectomy incision, in the skin flap in all patients. In 17 of 20 patients (85%), re-SLN biopsy was performed for local or regional recurrence after mastectomy. Re-SLN biopsy was successful in 13 of 20 patients (65%) after previous mastectomy. Of the 13 patients, 2 had positive re-SLN, and completion axillary dissection was performed, with 1 having additional positive nodes. In the 11 patients with negative re-SLN, 2 patients underwent completion axillary dissection demonstrating additional negative nodes. One patient with a negative re-SLN experienced chest wall recurrence combined with axillary recurrence 11 months after re-SLN biopsy. All others remained free of local or axillary recurrence. Re-SLN biopsy was unsuccessful in 7 of 20 patients (35%). In three of seven patients, axillary dissection was performed, yielding positive nodes in two of the three. The remaining four of seven patients all had previous modified radical mastectomy, so underwent no additional axillary surgery. In this small series, re-SLN was successful after previous mastectomy, and this procedure may play some role when axillary staging is warranted after mastectomy.

Karyotype characteristics and polymorphism peculiarities of Chironomus bernensis Wülker & Klötzli, 1973 (Diptera, Chironomidae) from the Central Caucasus and Ciscaucasia

Science.gov (United States)

Karmokov, Mukhamed Kh.; Polukonova, Natalia V.; Sinichkina, Olga V.

2015-01-01

Abstract Data about the karyotype characteristics, features of chromosomal polymorphism and larval morphology of populations of Chironomus bernensis Wülker & Klötzli, 1973 (Diptera, Chironomidae) from the Central Caucasus (the northern macroslope) and Ciscaucasia are presented. The characteristics of the pericentromeric regions of the long chromosomes of this species from Caucasian populations were very similar to the ones from some European populations (from Poland and Italy), but differed from Swiss and Siberian populations. In the North Caucasian populations 10 banding sequences were found: two in arms A, C, and E, and one in arms B, D, F, and G. Nine of them were already known for this species, and one, berC2, is described for the first time. Cytogenetic distances between all the studied populations of Chironomus bernensis show that close geographical location of all studied populations from the Central Caucasus and Ciscaucasia is reflected in their similar cytogenetic structure, but on the other hand, that they are more closely related to populations from Europe than to populations from Western Siberia. At the same time, all studied larvae from Caucasian populations have a four-bladed premandible, instead of a two-bladed one, as in the description of Chironomus bernensis from Switzerland (Wülker and Klötzli 1973, Polukonova 2005c). These peculiarities may indicate the relative isolation of the Caucasus from the viewpoint of microevolution. Further research on karyological and morphological characteristics of Chironomus bernensis from geographically distant regions is necessary as there is a possibility that the presently known species is actually polytypic and consists of several sibling species. PMID:26312128

Karyotype characteristics and polymorphism peculiarities of Chironomus bernensis Wülker & Klötzli, 1973 (Diptera, Chironomidae from the Central Caucasus and Ciscaucasia

Directory of Open Access Journals (Sweden)

Mukhamed Kh. Karmokov

2015-06-01

Full Text Available Data about the karyotype characteristics, features of chromosomal polymorphism and larval morphology of populations of Chironomus bernensis Wülker & Klötzli, 1973 (Diptera, Chironomidae from the Central Caucasus (the northern macroslope and Ciscaucasia are presented. The characteristics of the pericentromeric regions of the long chromosomes of this species from Caucasian populations were very similar to the ones from some European populations (from Poland and Italy, but differed from Swiss and Siberian populations. In the North Caucasian populations 10 banding sequences were found: two in arms A, C, and E, and one in arms B, D, F, and G. Nine of them were already known for this species, and one, berC2, is described for the first time. Cytogenetic distances between all the studied populations of Ch. bernensis show that close geographical location of all studied populations from the Central Caucasus and Ciscaucasia is reflected in their similar cytogenetic structure, but on the other hand, that they are more closely related to populations from Europe than to populations from Western Siberia. At the same time, all studied larvae from Caucasian populations have a four-bladed premandible, instead of a two-bladed one, as in the description of Ch. bernensis from Switzerland (Wülker and Klötzli 1973, Polukonova 2005c. These peculiarities may indicate the relative isolation of the Caucasus from the viewpoint of microevolution. Further research on karyological and morphological characteristics of Chironomus bernensis from geographically distant regions is necessary as there is a possibility that the presently known species is actually polytypic and consists of several sibling species.

77 FR 70176 - Previous Participation Certification

Science.gov (United States)

2012-11-23

... participants' previous participation in government programs and ensure that the past record is acceptable prior... information is designed to be 100 percent automated and digital submission of all data and certifications is... government programs and ensure that the past record is acceptable prior to granting approval to participate...

How distributed processing produces false negatives in voxel-based lesion-deficit analyses.

Science.gov (United States)

Gajardo-Vidal, Andrea; Lorca-Puls, Diego L; Crinion, Jennifer T; White, Jitrachote; Seghier, Mohamed L; Leff, Alex P; Hope, Thomas M H; Ludersdorfer, Philipp; Green, David W; Bowman, Howard; Price, Cathy J

2018-07-01

In this study, we hypothesized that if the same deficit can be caused by damage to one or another part of a distributed neural system, then voxel-based analyses might miss critical lesion sites because preservation of each site will not be consistently associated with preserved function. The first part of our investigation used voxel-based multiple regression analyses of data from 359 right-handed stroke survivors to identify brain regions where lesion load is associated with picture naming abilities after factoring out variance related to object recognition, semantics and speech articulation so as to focus on deficits arising at the word retrieval level. A highly significant lesion-deficit relationship was identified in left temporal and frontal/premotor regions. Post-hoc analyses showed that damage to either of these sites caused the deficit of interest in less than half the affected patients (76/162 = 47%). After excluding all patients with damage to one or both of the identified regions, our second analysis revealed a new region, in the anterior part of the left putamen, which had not been previously detected because many patients had the deficit of interest after temporal or frontal damage that preserved the left putamen. The results illustrate how (i) false negative results arise when the same deficit can be caused by different lesion sites; (ii) some of the missed effects can be unveiled by adopting an iterative approach that systematically excludes patients with lesions to the areas identified in previous analyses, (iii) statistically significant voxel-based lesion-deficit mappings can be driven by a subset of patients; (iv) focal lesions to the identified regions are needed to determine whether the deficit of interest is the consequence of focal damage or much more extensive damage that includes the identified region; and, finally, (v) univariate voxel-based lesion-deficit mappings cannot, in isolation, be used to predict outcome in other patients

Effectiveness of Quantitative Real Time PCR in Long-Term Follow-up of Chronic Myeloid Leukemia Patients.

Science.gov (United States)

Savasoglu, Kaan; Payzin, Kadriye Bahriye; Ozdemirkiran, Fusun; Berber, Belgin

2015-08-01

To determine the use of the Quantitative Real Time PCR (RQ-PCR) assay follow-up with Chronic Myeloid Leukemia (CML) patients. Cross-sectional observational. Izmir Ataturk Education and Research Hospital, Izmir, Turkey, from 2009 to 2013. Cytogenetic, FISH, RQ-PCR test results from 177 CMLpatients' materials selected between 2009 - 2013 years was set up for comparison analysis. Statistical analysis was performed to compare between FISH, karyotype and RQ-PCR results of the patients. Karyotyping and FISH specificity and sensitivity rates determined by ROC analysis compared with RQ-PCR results. Chi-square test was used to compare test failure rates. Sensitivity and specificity values were determined for karyotyping 17.6 - 98% (p=0.118, p > 0.05) and for FISH 22.5 - 96% (p=0.064, p > 0.05) respectively. FISH sensitivity was slightly higher than karyotyping but there was calculated a strong correlation between them (p 0.05); however, karyotyping and FISH test failure rate was statistically significant (p < 0.001). Besides, the situation needed for karyotype analysis, RQ-PCR assay can be used alone in the follow-up of CMLdisease.

Analysing Medieval Urban Space; a methodology

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Marlous L. Craane MA

2007-08-01

Full Text Available This article has been written in reaction to recent developments in medieval history and archaeology, to study not only the buildings in a town but also the spaces that hold them together. It discusses a more objective and interdisciplinary approach for analysing urban morphology and use of space. It proposes a 'new' methodology by combining town plan analysis and space syntax. This methodology was trialled on the city of Utrecht in the Netherlands. By comparing the results of this 'new' methodology with the results of previous, more conventional, research, this article shows that space syntax can be applied successfully to medieval urban contexts. It does this by demonstrating a strong correlation between medieval economic spaces and the most integrated spaces, just as is found in the study of modern urban environments. It thus provides a strong basis for the use of this technique in future research of medieval urban environments.

Availability simulation software adaptation to the IFMIF accelerator facility RAMI analyses

Energy Technology Data Exchange (ETDEWEB)

Bargalló, Enric, E-mail: enric.bargallo-font@upc.edu [Fusion Energy Engineering Laboratory (FEEL), Technical University of Catalonia (UPC) Barcelona-Tech, Barcelona (Spain); Sureda, Pere Joan [Fusion Energy Engineering Laboratory (FEEL), Technical University of Catalonia (UPC) Barcelona-Tech, Barcelona (Spain); Arroyo, Jose Manuel [Laboratorio Nacional de Fusión por Confinamiento Magnético – CIEMAT, Madrid (Spain); Abal, Javier; De Blas, Alfredo; Dies, Javier; Tapia, Carlos [Fusion Energy Engineering Laboratory (FEEL), Technical University of Catalonia (UPC) Barcelona-Tech, Barcelona (Spain); Mollá, Joaquín; Ibarra, Ángel [Laboratorio Nacional de Fusión por Confinamiento Magnético – CIEMAT, Madrid (Spain)

2014-10-15

Highlights: • The reason why IFMIF RAMI analyses needs a simulation is explained. • Changes, modifications and software validations done to AvailSim are described. • First IFMIF RAMI results obtained with AvailSim 2.0 are shown. • Implications of AvailSim 2.0 in IFMIF RAMI analyses are evaluated. - Abstract: Several problems were found when using generic reliability tools to perform RAMI (Reliability Availability Maintainability Inspectability) studies for the IFMIF (International Fusion Materials Irradiation Facility) accelerator. A dedicated simulation tool was necessary to model properly the complexity of the accelerator facility. AvailSim, the availability simulation software used for the International Linear Collider (ILC) became an excellent option to fulfill RAMI analyses needs. Nevertheless, this software needed to be adapted and modified to simulate the IFMIF accelerator facility in a useful way for the RAMI analyses in the current design phase. Furthermore, some improvements and new features have been added to the software. This software has become a great tool to simulate the peculiarities of the IFMIF accelerator facility allowing obtaining a realistic availability simulation. Degraded operation simulation and maintenance strategies are the main relevant features. In this paper, the necessity of this software, main modifications to improve it and its adaptation to IFMIF RAMI analysis are described. Moreover, first results obtained with AvailSim 2.0 and a comparison with previous results is shown.

Availability simulation software adaptation to the IFMIF accelerator facility RAMI analyses

International Nuclear Information System (INIS)

Bargalló, Enric; Sureda, Pere Joan; Arroyo, Jose Manuel; Abal, Javier; De Blas, Alfredo; Dies, Javier; Tapia, Carlos; Mollá, Joaquín; Ibarra, Ángel

2014-01-01

Highlights: • The reason why IFMIF RAMI analyses needs a simulation is explained. • Changes, modifications and software validations done to AvailSim are described. • First IFMIF RAMI results obtained with AvailSim 2.0 are shown. • Implications of AvailSim 2.0 in IFMIF RAMI analyses are evaluated. - Abstract: Several problems were found when using generic reliability tools to perform RAMI (Reliability Availability Maintainability Inspectability) studies for the IFMIF (International Fusion Materials Irradiation Facility) accelerator. A dedicated simulation tool was necessary to model properly the complexity of the accelerator facility. AvailSim, the availability simulation software used for the International Linear Collider (ILC) became an excellent option to fulfill RAMI analyses needs. Nevertheless, this software needed to be adapted and modified to simulate the IFMIF accelerator facility in a useful way for the RAMI analyses in the current design phase. Furthermore, some improvements and new features have been added to the software. This software has become a great tool to simulate the peculiarities of the IFMIF accelerator facility allowing obtaining a realistic availability simulation. Degraded operation simulation and maintenance strategies are the main relevant features. In this paper, the necessity of this software, main modifications to improve it and its adaptation to IFMIF RAMI analysis are described. Moreover, first results obtained with AvailSim 2.0 and a comparison with previous results is shown

Karyological characterization of the endemic Iberian rock lizard, Iberolacerta monticola (Squamata, Lacertidae): insights into sex chromosome evolution.

Science.gov (United States)

Rojo, V; Giovannotti, M; Naveira, H; Nisi Cerioni, P; González-Tizón, A M; Caputo Barucchi, V; Galán, P; Olmo, E; Martínez-Lage, A

2014-01-01

Rock lizards of the genus Iberolacerta constitute a promising model to examine the process of sex chromosome evolution, as these closely related taxa exhibit remarkable diversity in the degree of sex chromosome differentiation with no clear phylogenetic segregation, ranging from cryptic to highly heteromorphic ZW chromosomes and even multiple chromosome systems (Z1Z1Z2Z2/Z1Z2W). To gain a deeper insight into the patterns of karyotype and sex chromosome evolution, we performed a cytogenetic analysis based on conventional staining, banding techniques and fluorescence in situ hybridization in the species I. monticola, for which previous cytogenetic investigations did not detect differentiated sex chromosomes. The karyotype is composed of 2n = 36 acrocentric chromosomes. NORs and the major ribosomal genes were located in the subtelomeric region of chromosome pair 6. Hybridization signals of the telomeric sequences (TTAGGG)n were visualized at the telomeres of all chromosomes and interstitially in 5 chromosome pairs. C-banding showed constitutive heterochromatin at the centromeres of all chromosomes, as well as clear pericentromeric and light telomeric C-bands in several chromosome pairs. These results highlight some chromosomal markers which can be useful to identify species-specific diagnostic characters, although they may not accurately reflect the phylogenetic relationships among the taxa. In addition, C-banding revealed the presence of a heteromorphic ZW sex chromosome pair, where W is smaller than Z and almost completely heterochromatic. This finding sheds light on sex chromosome evolution in the genus Iberolacerta and suggests that further comparative cytogenetic analyses are needed to understand the processes underlying the origin, differentiation and plasticity of sex chromosome systems in lacertid lizards. © 2013 S. Karger AG, Basel.

Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.

Science.gov (United States)

Flores-Ramírez, Francisco; Palacios-Guerrero, Claudia; García-Delgado, Constanza; Morales-Jiménez, Ariadna Berenice; Arias-Villegas, Christian Martín; Cervantes, Alicia; Morán-Barroso, Verónica Fabiola

2015-08-01

Trisomy 21 is the most frequent genetic cause of intellectual disability. It is caused by different cytogenetic aberrations: free trisomy, Robertsonian translocations, mosaicism, duplication of the critical region and other structural rearrangements of chromosome 21. The aim of the study was to identify in Mexican trisomy 21 patients who attended Hospital Infantil de México Federico Gómez from 1992-2011 the type and frequency of the cytogenetic aberration and to evaluate the effect of maternal age. A retrospective analysis of epidemiological data and karyotype reports were carried out; type and frequency of the cytogenetic variants were determined. We identified 2,018 cases referred with a clinical diagnosis of trisomy 21. In 1,921 analyses (95.2%) a cytogenetic variant of trisomy 21 was identified: free trisomy 21 in 1,787 cases (93.02%), four cases (0.21%) had an additional non-contributory aberration; Robertsonian translocations in 92 cases (4.79%); mosaicism in 31 cases (1.61%) and seven cases (0.36%) had other chromosomal abnormalities, five (0.26%) had other contributory structural rearrangements and two corresponded to double aneuploidies (0.10%). Gender distribution was 1,048 (54.56%) males and 873 (45.44%) females. A maternal age effect was observed in patients with free trisomy 21 with mothers >36 years of age. The present work reports the experience of a Mexican referral center regarding the karyotype diagnosis of patients with trisomy 21 and is one of the most extensive studies published so far. Percentages of the cytogenetic abnormalities present in our population reflect the ones previously reported for these cytogenetic alterations worldwide. Copyright © 2015 IMSS. Published by Elsevier Inc. All rights reserved.

Evolutionary trends in the family Curimatidae (Characiformes): inferences from chromosome banding.

Science.gov (United States)

Sampaio, Tatiane Ramos; Pires, Larissa Bettin; Venturelli, Natália Bortolazzi; Usso, Mariana Campaner; da Rosa, Renata; Dias, Ana Lúcia

2016-01-01

The family Curimatidae is a fish group usually considered chromosomally conserved in their diploid number. However, some studies show small changes in the karyotype microstructure, and the presence of B chromosomes, indicating a chromosomal diversification within the group, even if structural changes in the karyotypes are not visible. Few studies associate this trait with an evolutionary pattern within the family. This study aimed to characterize the karyotype, nucleolus organizer regions (NORs), and heterochromatin distribution of six species of Curimatidae of the genera Cyphocharax Fowler, 1906 and Steindachnerina Fowler, 1906: Cyphocharax voga (Hensel, 1870), Cyphocharax spilotus (Vari, 1987), Cyphocharax saladensis (Meinken, 1933), Cyphocharax modestus (Fernández-Yépez, 1948), Steindachnerina biornata (Braga et Azpelicueta, 1987) and Steindachnerina insculpta (Fernández-Yépez, 1948) and contribute data to a better understanding of the mechanisms involved in the chromosomal evolution of this group of fish. All specimens had 2n=54, m-sm, and B microchromosomes. Five species exhibited single NORs, except for Steindachnerina biornata, which showed a multiple pattern of ribosomal sites. NORs were chromomycin A3 positive (CMA3 (+)) and 4'-6-diamino-2-phenylindole (DAPI(-)) negative, exhibiting differences in the pair and chromosomal location of each individual of the species. FISH with 5S rDNA probe revealed sites in the pericentrometic position of a pair of chromosomes of five species. However, another site was detected on a metacentric chromosome of Cyphocharax spilotus. Heterochromatin distributed both in the pericentromeric and some terminal regions was revealed to be CMA3 (+)/DAPI(-). These data associated with the previously existing ones confirm that, although Curimatidae have a very conservative karyotype macrostructure, NORs and heterochromatin variability are caused by mechanisms of chromosome alterations, such as translocations and/or inversions

[Prevalence of previously diagnosed diabetes mellitus in Mexico.

Science.gov (United States)

Rojas-Martínez, Rosalba; Basto-Abreu, Ana; Aguilar-Salinas, Carlos A; Zárate-Rojas, Emiliano; Villalpando, Salvador; Barrientos-Gutiérrez, Tonatiuh

2018-01-01

To compare the prevalence of previously diagnosed diabetes in 2016 with previous national surveys and to describe treatment and its complications. Mexico's national surveys Ensa 2000, Ensanut 2006, 2012 and 2016 were used. For 2016, logistic regression models and measures of central tendency and dispersion were obtained. The prevalence of previously diagnosed diabetes in 2016 was 9.4%. The increase of 2.2% relative to 2012 was not significant and only observed in patients older than 60 years. While preventive measures have increased, the access to medical treatment and lifestyle has not changed. The treatment has been modified, with an increase in insulin and decrease in hypoglycaemic agents. Population aging, lack of screening actions and the increase in diabetes complications will lead to an increase on the burden of disease. Policy measures targeting primary and secondary prevention of diabetes are crucial.

Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women.

Science.gov (United States)

Cheng, Hiu Yee Heidi; Kan, Anita Sik-Yau; Hui, Pui Wah; Lee, Chin Peng; Tang, Mary Hoi Yin

2017-12-01

The use of array comparative genomic hybridization (aCGH) has been increasingly widespread. The challenge of integration of this technology into prenatal diagnosis was the interpretation of results and communicating findings of unclear clinical significance. This study assesses the knowledge and acceptance of prenatal aCGH in Hong Kong obstetricians and pregnant women. The aim is to identify the needs and gaps before implementing the replacement of karyotyping with aCGH. Questionnaires with aCGH information in the form of pamphlets were sent by post to obstetrics and gynecology doctors. For the pregnant women group, a video presentation, pamphlets on aCGH and a self-administered questionnaire were provided at the antenatal clinic. The perception of aCGH between doctors and pregnant women was similar. Doctors not choosing aCGH were more concerned about the difficulty in counseling of variants of unknown significance and adult-onset disease in pregnant women, whereas pregnant women not choosing aCGH were more concerned about the increased waiting time leading to increased anxiety. Prenatal aCGH is perceived as a better test by both doctors and patients. Counseling support, training, and better understanding and communication of findings of unclear clinical significance are necessary to improve doctor-patient experience.

Quality assessment of published health economic analyses from South America.

Science.gov (United States)

Machado, Márcio; Iskedjian, Michael; Einarson, Thomas R

2006-05-01

Health economic analyses have become important to healthcare systems worldwide. No studies have previously examined South America's contribution in this area. To survey the literature with the purpose of reviewing, quantifying, and assessing the quality of published South American health economic analyses. A search of MEDLINE (1990-December 2004), EMBASE (1990-December 2004), International Pharmaceutical Abstracts (1990-December 2004), Literatura Latino-Americana e do Caribe em Ciências da Saúde (1982-December 2004), and Sistema de Informacion Esencial en Terapéutica y Salud (1980-December 2004) was completed using the key words cost-effectiveness analysis (CEA), cost-utility analysis (CUA), cost-minimization analysis (CMA), and cost-benefit analysis (CBA); abbreviations CEA, CUA, CMA, and CBA; and all South American country names. Papers were categorized by type and country by 2 independent reviewers. Quality was assessed using a 12 item checklist, characterizing scores as 4 (good), 3 (acceptable), 2 (poor), 1 (unable to judge), and 0 (unacceptable). To be included in our investigation, studies needed to have simultaneously examined costs and outcomes. We retrieved 25 articles; one duplicate article was rejected, leaving 24 (CEA = 15, CBA = 6, CMA = 3; Brazil = 9, Argentina = 5, Colombia = 3, Chile = 2, Ecuador = 2, 1 each from Peru, Uruguay, Venezuela). Variability between raters was less than 0.5 point on overall scores (OS) and less than 1 point on all individual items. Mean OS was 2.6 (SD 1.0, range 1.4-3.8). CBAs scored highest (OS 2.8, SD 0.8), CEAs next (OS 2.7, SD 0.7), and CMAs lowest (OS 2.0, SD 0.5). When scored by type of question, definition of study aim scored highest (OS 3.0, SD 0.8), while ethical issues scored lowest (OS 1.5, SD 0.9). By country, Peru scored highest (mean OS 3.8) and Uruguay had the lowest scores (mean OS 2.2). A nonsignificant time trend was noted for OS (R2 = 0.12; p = 0.104). Quality scores of health economic analyses

Molecular genetic diversity of the Saccharomyces yeasts in Taiwan: Saccharomyces arboricola, Saccharomyces cerevisiae and Saccharomyces kudriavzevii.

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Naumov, Gennadi I; Lee, Ching-Fu; Naumova, Elena S

2013-01-01

Genetic hybridization, sequence and karyotypic analyses of natural Saccharomyces yeasts isolated in different regions of Taiwan revealed three biological species: Saccharomyces arboricola, Saccharomyces cerevisiae and Saccharomyces kudriavzevii. Intraspecies variability of the D1/D2 and ITS1 rDNA sequences was detected among S. cerevisiae and S. kudriavzevii isolates. According to molecular and genetic analyses, the cosmopolitan species S. cerevisiae and S. kudriavzevii contain local divergent populations in Taiwan, Malaysia and Japan. Six of the seven known Saccharomyces species are documented in East Asia: S. arboricola, S. bayanus, S. cerevisiae, S. kudriavzevii, S. mikatae, and S. paradoxus.

Reproductive outcomes in adolescents who had a previous birth or an induced abortion compared to adolescents' first pregnancies

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Wenzlaff Paul

2008-01-01

Full Text Available Abstract Background Recently, attention has been focused on subsequent pregnancies among teenage mothers. Previous studies that compared the reproductive outcomes of teenage nulliparae and multiparae often did not consider the adolescents' reproductive histories. Thus, the authors compared the risks for adverse reproductive outcomes of adolescent nulliparae to teenagers who either have had an induced abortion or a previous birth. Methods In this retrospective cohort study we used perinatal data prospectively collected by obstetricians and midwives from 1990–1999 (participation rate 87–98% of all hospitals in Lower Saxony, Germany. From the 9742 eligible births among adolescents, women with multiple births, >1 previous pregnancies, or a previous spontaneous miscarriage were deleted and 8857 women Results In bivariate logistic regression analyses, compared to nulliparous teenagers, adolescents with a previous birth had higher risks for perinatal [OR = 2.08, CI = 1.11,3.89] and neonatal [OR = 4.31, CI = 1.77,10.52] mortality and adolescents with a previous abortion had higher risks for stillbirths [OR = 3.31, CI = 1.01,10.88] and preterm births [OR = 2.21, CI = 1.07,4.58]. After adjusting for maternal nationality, partner status, smoking, prenatal care and pre-pregnancy BMI, adolescents with a previous birth were at higher risk for perinatal [OR = 2.35, CI = 1.14,4.86] and neonatal mortality [OR = 4.70, CI = 1.60,13.81] and adolescents with a previous abortion had a higher risk for very low birthweight infants [OR = 2.74, CI = 1.06,7.09] than nulliparous teenagers. Conclusion The results suggest that teenagers who give birth twice as adolescents have worse outcomes in their second pregnancy compared to those teenagers who are giving birth for the first time. The prevention of the second pregnancy during adolescence is an important public health objective and should be addressed by health care providers who attend the first birth or the abortion

Influence of Previous Knowledge, Language Skills and Domain-specific Interest on Observation Competency

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Kohlhauf, Lucia; Rutke, Ulrike; Neuhaus, Birgit

2011-10-01

Many epoch-making biological discoveries (e.g. Darwinian Theory) were based upon observations. Nevertheless, observation is often regarded as `just looking' rather than a basic scientific skill. As observation is one of the main research methods in biological sciences, it must be considered as an independent research method and systematic practice of this method is necessary. Because observation skills form the basis of further scientific methods (e.g. experiments or comparisons) and children from the age of 4 years are able to independently generate questions and hypotheses, it seems possible to foster observation competency at a preschool level. To be able to provide development-adequate individual fostering of this competency, it is first necessary to assess each child's competency. Therefore, drawing on the recent literature, we developed in this study a competency model that was empirically evaluated within learners ( N = 110) from different age groups, from kindergarten to university. In addition, we collected data on language skills, domain-specific interest and previous knowledge to analyse coherence between these skills and observation competency. The study showed as expected that previous knowledge had a high impact on observation competency, whereas the influence of domain-specific interest was nonexistent. Language skills were shown to have a weak influence. By utilising the empirically validated model consisting of three dimensions (`Describing', `Scientific reasoning' and `Interpreting') and three skill levels, it was possible to assess each child's competency level and to develop and evaluate guided play activities to individually foster a child's observation competency.

[Phenotypic variability in 47, XXX patients: Clinical report of four new cases].

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Goldschmidt, Ernesto; Márquez, Marisa; Solari, Andrea; Ziembar, María I; Laudicina, Alejandro

2010-08-01

The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are usually diagnosed during adulthood when they develop premature ovarian failure or infertility, because the early phenotype doesn t have any specific features. The study describes four cases and the clinical variability of the 47, XXX karyotype.