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Sample records for chromosome translocation

  1. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli;

    2014-01-01

    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two chromoso...

  2. Causes of oncogenic chromosomal translocation

    OpenAIRE

    Aplan, Peter D.

    2005-01-01

    Non-random chromosomal translocations are frequently associated with a variety of cancers, especially hematologic malignancies and childhood sarcomas In addition to their diagnostic utility, chromosomal translocations are increasingly being used in the clinic to guide therapeutic decisions. However, the mechanisms which cause these translocations remain poorly understood. Illegit...

  3. How does DNA break during chromosomal translocations?

    OpenAIRE

    Nambiar, Mridula; Raghavan, Sathees C.

    2011-01-01

    Chromosomal translocations are one of the most common types of genetic rearrangements and are molecular signatures for many types of cancers. They are considered as primary causes for cancers, especially lymphoma and leukemia. Although many translocations have been reported in the last four decades, the mechanism by which chromosomes break during a translocation remains largely unknown. In this review, we summarize recent advances made in understanding the molecular mechanism of chromosomal t...

  4. Label Free Chromosome Translocation Detection with Silicon nanowires

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Andersen, Karsten Brandt; Frøhling, Kasper Bayer;

    HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method is a Fluore...

  5. A novel selection system for chromosome translocations in Saccharomyces cerevisiae.

    OpenAIRE

    Tennyson, Rachel B; Ebran, Nathalie; Herrera, Anissa E; Lindsley, Janet E.

    2002-01-01

    Chromosomal translocations are common genetic abnormalities found in both leukemias and solid tumors. While much has been learned about the effects of specific translocations on cell proliferation, much less is known about what causes these chromosome rearrangements. This article describes the development and use of a system that genetically selects for rare translocation events using the yeast Saccharomyces cerevisiae. A translocation YAC was created that contains the breakpoint cluster regi...

  6. Defining chromosomal translocation risks in cancer

    OpenAIRE

    Marc A Hogenbirk; Heideman, Marinus R.; de Rink, Iris; Velds, Arno; Kerkhoven, Ron M.; Wessels, Lodewyk F. A.; Jacobs, Heinz

    2016-01-01

    Applying innovative integrative analyses of multifactorial genome-wide data, we now demonstrate that an open chromatin configuration, which is generically enriched promoter-proximal but not promoter-specific, is the common denominator and key translocation risk-determinant of active chromatin. The finding that gene size directly correlated with its translocation risk, in both mice and cancer patients, independently emphasized the generic irrelevance of any promoter-specific activity. These da...

  7. Mode of ATM-dependent suppression of chromosome translocation

    Energy Technology Data Exchange (ETDEWEB)

    Yamauchi, Motohiro, E-mail: motoyama@nagasaki-u.ac.jp [Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8523 (Japan); Suzuki, Keiji; Oka, Yasuyoshi; Suzuki, Masatoshi; Kondo, Hisayoshi; Yamashita, Shunichi [Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8523 (Japan)

    2011-12-09

    Highlights: Black-Right-Pointing-Pointer We addressed how ATM suppresses frequency of chromosome translocation. Black-Right-Pointing-Pointer We found ATM/p53-dependent G1 checkpoint suppresses translocation frequency. Black-Right-Pointing-Pointer We found ATM and DNA-PKcs function in a common pathway to suppress translocation. -- Abstract: It is well documented that deficiency in ataxia telangiectasia mutated (ATM) protein leads to elevated frequency of chromosome translocation, however, it remains poorly understood how ATM suppresses translocation frequency. In the present study, we addressed the mechanism of ATM-dependent suppression of translocation frequency. To know frequency of translocation events in a whole genome at once, we performed centromere/telomere FISH and scored dicentric chromosomes, because dicentric and translocation occur with equal frequency and by identical mechanism. By centromere/telomere FISH analysis, we confirmed that chemical inhibition or RNAi-mediated knockdown of ATM causes 2 to 2.5-fold increase in dicentric frequency at first mitosis after 2 Gy of gamma-irradiation in G0/G1. The FISH analysis revealed that ATM/p53-dependent G1 checkpoint suppresses dicentric frequency, since RNAi-mediated knockdown of p53 elevated dicentric frequency by 1.5-fold. We found ATM also suppresses dicentric occurrence independently of its checkpoint role, as ATM inhibitor showed additional effect on dicentric frequency in the context of p53 depletion and Chk1/2 inactivation. Epistasis analysis using chemical inhibitors revealed that ATM kinase functions in the same pathway that requires kinase activity of DNA-dependent protein kinase catalytic subunit (DNA-PKcs) to suppress dicentric frequency. From the results in the present study, we conclude that ATM minimizes translocation frequency through its commitment to G1 checkpoint and DNA double-strand break repair pathway that requires kinase activity of DNA-PKcs.

  8. Chromosome 14 translocations in non-Burkitt lymphomas

    Energy Technology Data Exchange (ETDEWEB)

    Fukuhara, S.; Rowley, J.D.

    1978-01-01

    Chromosome studies were performed on malignant cells obtained from 27 patients with non-Burkitt lymphomas. A marker chromosome affecting the long arm of No. 14 (14q+) was the single most frequent abnormality and was noted in 17 of these patients. The frequency of the 14q+ marker varied with the type of lymphoma. For patients with malignant lymphoma, histiocytic, the frequency was 5 or 8; for mixed-cell type, 1 of 3; for poorly differentiated lymphocytic, 8 of 8; for well-differentiated lymphocytic, 0.3; for lymphoblastic, 0 of 1; for Hodgkin's disease, 2 of 3; and for mycosis fungoides, 1 of 1. The donor chromosome involved in the 14q translocation was identified in 12 cases; certain chromosomes appeared to be affected more frequently than others. Although the break point was band 14q32 in most cases, the exact location of the receptor site on 14q was not always consistent. The distal part of 14q24 was also involved as a receptor site in at least one translocation. These findings suggest that, in some types of lymphoid malignancy, cells with a 14q translocation have a proliferative advantage over cells with other chromosome rearrangements. The presence of the 14q translocation may be important in the future for the distinction among morphologically different, but functionally comparable, subgroups of lymphoid malignancies.

  9. Balanced Chromosomal Translocation of Chromosomes 6 and 7: A Rare Male Factor of Spontaneous Abortions

    OpenAIRE

    Resim, Sefa; Kadıoğlu, Ateş; Akman, Tolga; Bayrak, Ayşe Gül; Efe, Erkan

    2013-01-01

    Background: Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities. Case Report: We report a man with balanced chromosomal translocations located at 6p22, and 7q22. His wife has a history of four spontaneous abortions. Conclusion: Couples with a history of abortions should be investigated cytogenetically, after other causes of mis...

  10. Centrifugally driven microfluidic disc for detection of chromosomal translocations

    DEFF Research Database (Denmark)

    Brøgger, Anna Line; Kwasny, Dorota; Bosco, Filippo G.;

    2012-01-01

    and prognosis of patients. In this work we demonstrate a novel, centrifugally-driven microfluidic system for controlled manipulation of oligonucleotides and subsequent detection of chromosomal translocations. The device is fabricated in the form of a disc with capillary burst microvalves employed to control...

  11. Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

    Directory of Open Access Journals (Sweden)

    Bani Bandana Ganguly

    2011-01-01

    Full Text Available Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromosomes identified a balanced translocation, t(6;10(p23;q24, in mother and an unbalanced rearrangement, der(6t(6:10(p23;q24mat, in the child. The child has inherited a derivative chromosome 6 with partial deletion of 6(p23-pter and partial trisomy 10(q24-qter, which has resulted in fusion of genes of two different chromosomes. The prominent phenotypic features of del(6p, including high forehead, flat nasal bridge, agenesis of left ear, atrial septal defect (ASD, craniosynostosis, and growth retardation, are overlapping with specific Axenfeld-Reiger-, Larsen-, and Ritscher-Sinzel/3-C syndromes, however, lacking in ocular anomalies, skeletal laxity, or cerebellar malformation. Therefore, this paper rules out the isolated effect of del(6p23 or trisomy 10(q24 on distinct previously reported syndromes and proposes the combined effect of unbalanced chromosomal alteration.

  12. ATM Modulates the Loading of Recombination Proteins onto a Chromosomal Translocation Breakpoint Hotspot

    OpenAIRE

    Jiying Sun; Yukako Oma; Masahiko Harata; Kazuteru Kono; Hiroki Shima; Aiko Kinomura; Tsuyoshi Ikura; Hidekazu Suzuki; Shuki Mizutani; Roland Kanaar; Satoshi Tashiro

    2010-01-01

    textabstractChromosome translocations induced by DNA damaging agents, such as ionizing radiation and certain chemotherapies, alter genetic information resulting in malignant transformation. Abrogation or loss of the ataxia-telangiectasia mutated (ATM) protein, a DNA damage signaling regulator, increases the incidence of chromosome translocations. However, how ATM protects cells from chromosome translocations is still unclear. Chromosome translocations involving the MLL gene on 11q23 are the m...

  13. Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla

    OpenAIRE

    Stanyon, Roscoe; Wienberg, Johannes; Romagno, D; F. Bigoni; Jauch, Anna; Cremer, Thomas

    1992-01-01

    The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined with high-resolution banding, replication sequence analysis, and fluorochrome staining to demonstrate that a reciprocal translocation between ancestral chromosomes homologous to human chromosome 5 and 17 has indeed occurred.

  14. Urethral duplication and chromosomal translocation in a Swiss braunvieh heifer.

    Science.gov (United States)

    Braun, U; Gansohr, B; Feige, K; Gardelle, O; Suwattana, D; Stranzinger, G

    2000-01-01

    As it was urinating, a six-month-old Swiss braunvieh heifer produced a second stream of urine from a fistula that opened on the ventrolateral margin of the left vulval lip. A catheter was introduced into this opening and passed easily into the bladder. Urethrography showed that the fistula joined the urethra in the mid-pelvic region and that a single canal originated from the bladder. Endoscopy confirmed this finding and also revealed a duplication of the vaginal portion of the cervix, a division of the cranial vagina by a septum and a fibrous band in the region of the hymenal ring. Cytogenetic examination revealed reciprocal translocation between chromosomes 20q23 and 22q23. A diagnosis of urethra duplex, duplication of the vaginal portion of the cervix and reciprocal autosomal translocation between chromosomes 20 and 22 was made on the basis of these findings.

  15. Two translocations of chromosome 15q associated with dyslexia

    OpenAIRE

    Nopola-Hemmi, J.; Taipale, M.; Haltia, T.; Lehesjoki, A; Voutilainen, A.; Kere, J.

    2000-01-01

    Developmental dyslexia is characterised by difficulties in learning to read. As reading is a complex cognitive process, multiple genes are expected to contribute to the pathogenesis of dyslexia. The genetics of dyslexia has been a target of molecular studies during recent years, but so far no genes have been identified. However, a locus for dyslexia on chromosome 15q21 (DYX1) has been established in previous linkage studies. We have identified two families with balanced translocations involvi...

  16. Inducement of chromosome translocation with small alien segments by irradiating mature female gametes of the whole arm translocation line

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Haynaldia villosa Schur. (syn. Dasypyrum villosum Candargy, 2n=14, VV) has been proved to be an important genetic resource for wheat improvement. The development of translocation with small alien chromosome segments, especially interstitial translocation, will be helpful for better utilization of its useful genes. Up to now, most of the reported Triticum aestivum – H. villosa translocation lines are involved in a whole arm or large alien fragments. In this paper, we report a highly efficient approach for the creation of small chromosome segment translocation lines. Before flowering, the female gametes of wheat-H. villosa 6VS/6AL translocation line were irradiated by 60CO-γ ray at 160 Rad/M dosage rate and three dosages (1600, 1920, 2240 Rad). Anthers were removed from the irradiated florets on the same day and the florets were pollinated with normal fresh pollens of T. aestivum cv. Chinese Spring after 2-3 days. Genomic in situ hybridization (GISH) at mitosis metaphase of root-tip cell of M1 plants was used to detect the chromosome structural changes involving 6VS of H. villosa. Among the 534 M1 plants screened, 97 plants contained small segment chromosome structural changes of 6VS, including 80 interstitial translocation chromosomes, 57 terminal translocation chromosomes and 55 deletion chromosomes. For the 2240 Rad dosage treatment, the inducement frequencies of interstitial translo-cation, terminal translocation and deletion were 21.02%, 14.01%, and 14.65%, respectively, which were much higher than those previously reported. The M2 seeds were obtained by backcrossing of 74 M1 plants involving 146 chromosomes structural changes of 6VS, and it was found that the structural aberrations in the M1 plants could be transmitted to their progenies. Irradiating mature female gametes of whole arm translocation is a new and highly efficient approach for creation of small segment chromosome struc-tural changes, especially for interstitial translocations.

  17. Induction of site-specific chromosomal translocations in embryonic stem cells by CRISPR/Cas9

    OpenAIRE

    Junfeng Jiang; Li Zhang; Xingliang Zhou; Xi Chen; Guanyi Huang; Fengsheng Li; Ruizhe Wang; Nancy Wu; Youzhen Yan; Chang Tong; Sankalp Srivastava; Yue Wang; Houqi Liu; Qi-Long Ying

    2016-01-01

    Chromosomal translocation is the most common form of chromosomal abnormality and is often associated with congenital genetic disorders, infertility, and cancers. The lack of cellular and animal models for chromosomal translocations, however, has hampered our ability to understand the underlying disease mechanisms and to develop new therapies. Here, we show that site-specific chromosomal translocations can be generated in mouse embryonic stem cells (mESCs) via CRISPR/Cas9. Mouse ESCs carrying ...

  18. Inducement of chromosome translocation with small alien segments by irradiating mature female gametes of the whole arm translocation line

    Institute of Scientific and Technical Information of China (English)

    CHEN ShengWei; CHEN PeiDu; WANG XiuE

    2008-01-01

    Haynaldia villosa Schur. (syn. Dasypyrum villosum Candargy, 2n=14, VV) has been proved to be an Important genetic resource for wheat improvement. The development of translocation with small alien chromosome segments, especially interstitial translocation, will be helpful for better utilization of its useful genes. Up to now, most of the reported Triticum aestivum - H. villosa translocation lines are involved in a whole arm or large alien fragments. In this paper, we report a highly efficient approach for the creation of small chromosome segment translocation lines. Before flowering, the female gametes of wheat-H, villosa 6VS/6AL trsnslocation line were irradiated by 60Co-γ ray at 160 Rad/M dosage rate and three dosages (1600, 1920, 2240 Rad). Anthers were removed from the irradiated florets on the same day and the florets were pollinated with normal fresh pollens of T. aestivum cv. Chinese Spring after 2-3 days. Genomic in situ hybridization (GISH) at mitosis metaphase of root-tip cell of M1 plants was used to detect the chromosome structural changes involving 6VS of H. villosa. Among the 534 M1 plants screened, 97 plants contained small segment chromosome structural changes of 6VS, including 80 interstitial translocation chromosomes, 57 terminal translocation chromosomes and 55 deletion chromosomes. For the 2240 Rad dosage treatment, the inducement frequencies of interstitial translocation, terminal translocation and deletion were 21.02%, 14.01%, and 14.65%, respectively, which were much higher than those previously reported. The M2 seeds were obtained by bsckcrossing of 74 M1 plants involving 146 chromosomes structural changes of 6VS, and it was found that the structural aberrations in the M1 plants could be transmitted to their progenies. Irradiating mature female gametes of whole arm translocation is a new and highly efficient approach for creation of small segment chromosome structural changes, especially for interstitial translocations.

  19. BCR translocation to derivative chromosome 2: a new case of chronic myeloid leukemia with a complex variant translocation and Philadelphia chromosome

    OpenAIRE

    Al-Achkar, Walid; Wafa, Abdulsamad; ALMEDANI, SUHER

    2010-01-01

    The well-known typical fusion gene BCR/ABL is observed in connection with a complex translocation event in 5–8% of cases of chronic myeloid leukemia (CML). The present study described an exceptional CML case with complex chromosomal aberrations not previously observed. Aberrations included a translocated BCR to the derivative chromosome 2 [der(2)] that also involved a four-chromosome translocation, implying chromosomal regions 1p32 and 2q21, besides 9q34 and 22q11.2, which were characterized ...

  20. Induction of Chromosomal Translocations in Mouse and Human Cells Using Site-Specific Endonucleases

    OpenAIRE

    Weinstock, David M.; Brunet, Erika; Jasin, Maria

    2008-01-01

    Reciprocal chromosomal translocations are early and essential events in the malignant transformation of several tumor types, yet the precise mechanisms that mediate translocation formation are poorly understood. We review here the development of approaches to induce and recover translocations between two targeted DNA double-strand breaks (DSBs) in mammalian chromosomes. Using mouse cells, we find that nonhomologous end-joining readily mediates translocation formation between two DSBs generate...

  1. Chromosomal translocation involving the beta T cell receptor gene in acute leukemia

    OpenAIRE

    1988-01-01

    DNA spanning a t(7;19) chromosomal translocation breakpoint was isolated from the human T cell line SUP-T7 established from an acute lymphoblastic leukemia. Nucleotide sequence analysis showed that the point of crossover on chromosome 7 occurred immediately adjacent to joining segment J beta 1.1 within the TCR-beta gene, suggesting that this translocation resulted from an error in TCR gene rearrangement. On chromosome 19, the translocation occurred within a previously uncharacterized transcri...

  2. Development and Identification of Triticum aestivum L.-Thinopyrum bessarabicum L(o)ve Chromosome Translocations

    Institute of Scientific and Technical Information of China (English)

    ZHUANG Li-fang; QI Zeng-jun; CHEN Pei-du; FENG Yi-gao; LIU Da-jun

    2004-01-01

    With ass7istance of chromosome C-banding and genomic in situ hybridization(GISH)combined with meiotic analysis,five germplasms with homozygous wheat-Th. Bessarabicum chromosome translocations were developed and identified among BC1F5 progenies of the cross between T. Aestivum cv. Chinese Spring and Chinese Spring-Th. Bessarabicum amphiploid. These lines included Tj01 and Tj02(2n=44)containing a pair of wheat-Th. Bessarabicum translocation chromosomes besides a pair of added Th. Bessarabicum chromosomes,Tj03(2n=44)with a pair of added interspecific translocation chromosomes,Tj04(2n=44)containing a pair of interspecific translocation chromosomes besides an added pair of Th. Bessarabicum chromosome arms and Tj05(2n=46)containing a pair of interspecific translocation chromosomes besides two pairs of added intact alien chromosomes. The breakpoints of all the translocations were found to be not around centromere. Meanwhile,all the lines showed normal plant growth,development and fertility,while the translocation chromosomes transmitted regularly. The obtained translocations might be of use for transferring elite genes from Th. Bessarabicum into wheat.

  3. Mass Production of Intergeneric Chromosomal Translocations through Pollen Irradiation of Triticum durum-Haynaldia villosa Amphiploid

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Haynaldia villosa possesses a lot of important agronomic traits and has been a powerful gene resource for wheat improvement. However,only several wheat-H. Villosa translocation lines have been reported so far.In this study,we attempted to develop an efficient method for inducing wheat-H. Villosa chromosomal translocations.Triticum durum-Haynaldia villosa amphiploid pollen treated with 1200 rad 60Co-γ-rays was pollinated to Triticum aestivum cv.'Chinese Spring'.Ninety-eight intergeneric translocated chromosomes between T. Durum and H.villosa were detected by genomic In situ hybridization in 44 of 61 M1 plants,indicating a translocation occurrence frequency of 72.1%;much higher than ever reported.There were 26,62 and 10 translocated chromosomes involving whole arm translocations,terminal translocations,and intercarlary translocations,respectively.Of the total 108 breakage-fusion events,79 involved interstitial regions and 29 involved centric regions.The ratio of small segment terminal translocations(W·W-V) was much higher than that of large segment terminal translocations (W-V·V).All of the M1 plants were self-sterile,and their backcross progeny was all obtained with Chinese Spring as pollen donors.Transmission analysis showed that most of the translocations were transmittable.This study provides a new strategy for rapid mass production of wheat-alien chromosomal translocations.especially terminal translocations that will be more significant for wheat improvement.

  4. Use of chromosome translocations for measuring prior environment exposures in humans

    Energy Technology Data Exchange (ETDEWEB)

    Tucker, J. D.

    1997-05-01

    Recent advances in cytogenetic methodology are beginning to have a major impact upon our ability to provide assessments of environmental exposure in humans. The advent of fluorescent-based techniques for `painting` whole chromosomes has made the analysis of chromosome translocations rapid, specific, sensitive and routine. Chromosome painting has been used to address a wide variety of scientific questions, resulting in an increased understanding of the biological consequences of adverse environmental exposure. This paper describes the use of chromosome translocations as a biological marker of exposure and effect in humans. The relevance of translocations is discussed, as are the advantages and disadvantages of painting compared to classical cytogenetic methods for translocation evaluation. The factors to consider in the use of translocations as a retrospective indicator of exposure are then described. Several theoretical parameters that are important to the use of translocations are provided, and the paper concludes with a vision for the future of cytogenetic methodology.

  5. Population-based survey of cancer risks in chromosome 3 translocation carriers

    DEFF Research Database (Denmark)

    Woodward, Emma R; Skytte, Anne-Bine; Cruger, Dorthe G;

    2010-01-01

    Familial renal cell carcinoma (RCC) is genetically heterogeneous and may be associated with germline mutations in a number of genes. Twelve different constitutional translocations involving chromosome 3 have also been described in association with inherited RCC. In some families the lifetime risk...... of RCC in chromosome 3 translocation carriers has been estimated to be more than 80%; however the cancer risks in patients with chromosome 3 translocations not ascertained because of a family history of RCC are not well defined. We report a retrospective population-based study using Danish national...... cytogenetic and cancer registries to clarify tumor risks associated with constitutional translocations involving chromosome 3. We identified 222 (105 females, 117 males) individuals with a constitutional chromosome 3 translocation and compared their cancer risks to those of the Danish population. None of the...

  6. The Incidence and Type of Chromosomal Translocations from Prenatal Diagnosis of 3800 Patients in the Republic of Macedonia

    OpenAIRE

    Vasilevska, M; Ivanovska, E; Kubelka Sabit, K; E. Sukarova-Angelovska; Dimeska, G

    2013-01-01

    Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the frequency and type of detected translocations in 10 years of prenatal diagnosis of 3800 prenatal samples. The materials came from amniocentesis and chorionic villus samples (CVS). We detected seven Robertsonian translocations (0.18%), eight autosomal reciprocal translocations (0.21%) and one sex chromosome translocation (0.03%). The ove...

  7. Genome-Wide Translocation Sequencing Reveals Mechanisms of Chromosome Breaks and Rearrangements in B Cells

    OpenAIRE

    Chiarle, Roberto; Zhang, Yu; Frock, Richard L.; Lewis, Susanna M.; Molinie, Benoit; Ho, Yu-Jui; Myers, Darienne R; Choi, Vivian W.; Compagno, Mara; Malkin, Daniel J.; Neuberg, Donna; Monti, Stefano; Giallourakis, Cosmas C.; Gostissa, Monica; Alt, Frederick W.

    2011-01-01

    While chromosomal translocations are common pathogenetic events in cancer, mechanisms that promote them are poorly understood. To elucidate translocation mechanisms in mammalian cells, we developed high throughput, genome-wide translocation sequencing (HTGTS). We employed HTGTS to identify tens of thousands of independent translocation junctions involving fixed I-SceI meganuclease-generated DNA double strand breaks (DSBs) within the c-myc oncogene or IgH locus of B lymphocytes induced for Act...

  8. Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.

    OpenAIRE

    OHBA, N.; Yamashita, T.

    1986-01-01

    A female infant with the typical clinical and histopathological features of vitreoretinal dysplasia is described. She had an apparently balanced reciprocal chromosomal translocation 46XX,t(X;10) with the X chromosome breakpoint being on the short arm. Since the parents' karyotypes were normal, it is most plausible that a de novo chromosomal translocation disrupted the vitreoretinal dysplasia gene itself. The severe clinical symptoms of this heterozygous female patient were explained by non-ra...

  9. DNA ligase III promotes alternative nonhomologous end-joining during chromosomal translocation formation.

    OpenAIRE

    Deniz Simsek; Erika Brunet; Sunnie Yan-Wai Wong; Sachin Katyal; Yankun Gao; McKinnon, Peter J.; Jacqueline Lou; Lei Zhang; James Li; Rebar, Edward J; Gregory, Philip D.; Michael C. Holmes; Maria Jasin

    2011-01-01

    International audience Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instability and chromosomal translocations, leading to the notion that a poorly defined, alternative NHEJ (alt-NHEJ) pathway generates these rearrangements. Here, we investigate the DNA ligase requirement of chromosomal translo...

  10. Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner's syndrome.

    OpenAIRE

    Krajinovic, M; Ivanovic, K; Mestroni, L; Diklic, V; Nikolis, J

    1994-01-01

    We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The occurrence of chromosome aberrations as a consequence of interchromosomal interactions is discussed.

  11. Three-dimensional genome architecture influences partner selection for chromosomal translocations in human disease.

    Directory of Open Access Journals (Sweden)

    Jesse M Engreitz

    Full Text Available Chromosomal translocations are frequent features of cancer genomes that contribute to disease progression. These rearrangements result from formation and illegitimate repair of DNA double-strand breaks (DSBs, a process that requires spatial colocalization of chromosomal breakpoints. The "contact first" hypothesis suggests that translocation partners colocalize in the nuclei of normal cells, prior to rearrangement. It is unclear, however, the extent to which spatial interactions based on three-dimensional genome architecture contribute to chromosomal rearrangements in human disease. Here we intersect Hi-C maps of three-dimensional chromosome conformation with collections of 1,533 chromosomal translocations from cancer and germline genomes. We show that many translocation-prone pairs of regions genome-wide, including the cancer translocation partners BCR-ABL and MYC-IGH, display elevated Hi-C contact frequencies in normal human cells. Considering tissue specificity, we find that translocation breakpoints reported in human hematologic malignancies have higher Hi-C contact frequencies in lymphoid cells than those reported in sarcomas and epithelial tumors. However, translocations from multiple tissue types show significant correlation with Hi-C contact frequencies, suggesting that both tissue-specific and universal features of chromatin structure contribute to chromosomal alterations. Our results demonstrate that three-dimensional genome architecture shapes the landscape of rearrangements directly observed in human disease and establish Hi-C as a key method for dissecting these effects.

  12. Development of Triticum aestivum-Leymus racemosus translocation lines using gametocidal chromosomes

    Institute of Scientific and Technical Information of China (English)

    袁建华; 陈佩度; 刘大钧

    2003-01-01

    Specific chromosomes of certain Aegilops species introduced into wheat genome background may often facilitate chromosome breakage and refusion, and finally result in a variety of chromosome restructuring. Such a phenomenon is commonly called gametocidal effect of the chromosomes. The chromosome 2C of Ae. cylindrica is one of such chromosomes. In the present study, scab resistant wheat-L. racemosus addition lines involving chromosomes Lr.2 and Lr.7 were crossed to wheat-Ae. cylindrica disomic addition line Add2C. Then F1 hybrids were subsequently backcrossed with wheat cv "Chinese Spring". BC1 plants with chromosome structural aberration were identified by C-banding. In the self-pollinated progenies of these plants, three translocation lines were developed and characterized by mitotic and meiotic analysis combined with C-banding and fluorescent in situ hybridization (FISH) using biotin-labeled genomic DNA of L. racemosus as probe. Some other putative translocation lines to be further characterized were also found. The practicability and efficiency of the translocation between wheat and alien chromosomes induced by gametocidal chromosomes, as well as the potential use of the developed alien translocation lines were also discussed.

  13. Frequency and distribution analysis of chromosomal translocations induced by x-ray in human lymphocytes

    International Nuclear Information System (INIS)

    The characteristic of ionizing radiation suggests that induced chromosomal damage in the form of translocations would appear to be randomly distributed. However, the outcome of tests performed in vitro and in vivo (irradiated individuals) are contradictories. The most translocation-related chromosomes, as far as some studies reveal on one hand, appear to be less involved in accordance with others. These data, together with those related to molecular mechanisms involved in translocations production suggest that in G0 -irradiated cells, the frequency and distribution of this kind of chromosomal rearrangement, does not take place at random. They seem to be affected by in-nucleus chromosome distribution, by each chromosome's DNA length and functional features, by the efficiency of DNA repair mechanisms, and by inter individual differences. The objective of this study was to establish the frequency pattern of each human chromosome involved in radio-induced translocations, as well as to analyze the importance the chromosome length, the activity of DNA polymerase- dependant repair mechanisms, and inter individual differences within the scope of such distribution. To achieve the goals, peripheral blood lymphocytes from healthy donors were irradiated in presence and absence of 2'-3' dideoxithimidine (ddThd), a Β - DNA polymerase inhibitor, which takes part in the base repair mechanism (B E R). The results showed that: The presence of ddThd during the irradiation increase the basal frequency of radioinduced translocations in 60 %. This result suggests that ddThd repair synthesis inhibition can be in itself a valid methodology for radiation-induced bases damage assessment, damage which if not BER-repaired may result in translocation-leading double strand breaks. A statistically significant correlation between translocation frequency and chromosome length, in terms of percentage of genome, has been noticed both in (basal) irradiation and in irradiation with ddThd inhibitor

  14. ATM modulates the loading of recombination proteins onto a chromosomal translocation breakpoint hotspot

    NARCIS (Netherlands)

    J. Sun (Jiying); Y. Oma (Yukako); M. Harata (Masahiko); K. Kono (Kazuteru); H. Shima (Hiroki); A. Kinomura (Aiko); T. Ikura (Tsuyoshi); H. Suzuki (Hidekazu); S. Mizutani (Shuki); R. Kanaar (Roland); S. Tashiro (Satoshi)

    2010-01-01

    textabstractChromosome translocations induced by DNA damaging agents, such as ionizing radiation and certain chemotherapies, alter genetic information resulting in malignant transformation. Abrogation or loss of the ataxia-telangiectasia mutated (ATM) protein, a DNA damage signaling regulator, incre

  15. Three-Dimensional Genome Architecture Influences Partner Selection for Chromosomal Translocations in Human Disease

    OpenAIRE

    Engreitz, Jesse Michael; Agarwala, Vineeta; Mirny, Leonid A.

    2012-01-01

    Chromosomal translocations are frequent features of cancer genomes that contribute to disease progression. These rearrangements result from formation and illegitimate repair of DNA double-strand breaks (DSBs), a process that requires spatial colocalization of chromosomal breakpoints. The “contact first” hypothesis suggests that translocation partners colocalize in the nuclei of normal cells, prior to rearrangement. It is unclear, however, the extent to which spatial interactions based on thre...

  16. CHROMOSOMAL SUBLOCALIZATION OF THE 2 13 TRANSLOCATION BREAKPOINT IN ALVEOLAR RHABDOMYOSARCOMA

    NARCIS (Netherlands)

    SHAPIRO, DN; VALENTINE, MB; SUBLETT, JE; SINCLAIR, AE; TEREBA, AM; SCHEFFER, H; BUYS, CHCM; LOOK, AT

    1992-01-01

    A characteristic balanced reciprocal chromosomal translocation [t(2;13)(q35;q14)] has been identified in more than 50% of alveolar rhabdomyosarcomas. As the first step in characterization of the genes involved in this translocation, we constructed somatic cell hybrids that retained either the deriva

  17. A new translocation between chromosomes 6 and 9 helps to establish diagnosis of renal oncocytoma.

    Science.gov (United States)

    Hudacko, Rachel; May, Michael; Aviv, Hana

    2011-08-01

    Renal oncocytomas are benign epithelial tumors of the kidney. Histologically, they resemble certain malignant renal tumors, such as chromophobe renal cell carcinoma and the eosinophilic or granular form of clear cell renal carcinoma. It is, therefore, important to be able to differentiate among these tumors. Cytogenetic analysis is an important adjunct to the diagnosis of renal tumors, as the various subtypes have specific acquired chromosome abnormalities. Oncocytomas present either with loss of chromosome 1 and a sex chromosome, or with recurring translocations involving chromosome 11. We describe 2 patients with renal oncocytoma and a new translocation between chromosomes 6 and 9. The tumors in both patients were histologically virtually identical. The t(6;9)(p21;p23) may be a new translocation associated with renal oncocytomas.

  18. A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.

    Science.gov (United States)

    Mundhofir, F E P; Kooper, A J A; Winarni, T I; Smits, A P T; Faradz, S M H; Hamel, B C J

    2010-01-01

    We report on a boy with partial trisomies for chromosomes 8 and 22 caused by the presence of a small supernumerary marker chromosome (sSMC), a der(22)t(8;22)(p22;q11.21), inherited from a t(8;22)(p22;q11.21) translocation carrier mother. He has mild mental retardation, unability to speak distinct words and several minor anomalies i.e. high forehead and hairline, telecanthus, upslanting palpebral fissures, depressed nasal bridge, nail hypoplasia, toe position anomaly and 5th finger clinodactyly. He has two maternal uncles and one maternal aunt with mental retardation. G-banding technique showed 47,XY,+mar whilst his mother's karyotype showed a balanced reciprocal translocation between the chromosomes 8 and 22. Fluorescence In Situ Hybridization (FISH) technique with probes for centromere 22 and 8pter were used to detect the origin of marker chromosome and confirmed the marker chromosome in the proband showing to be extra chromosomal material originated from chromosome 8 and 22. Additional genome wide microarray analysis, using the Affymetrix Nspl 250K SNP array platform was performed to further characterize the marker chromosome and resulted in a der(22)t(8;22)(p22;q11.21). Furthermore, cytogenetic analysis of three affected family members showed the same unbalanced translocation, due to 3:1 meiotic segregation. This indicated the viability of this unbalanced pattern and combined with the recurrent miscarriages by the proband's mother, the mechanism of transmitting extrachromosomal material is probably not a random process. Since, there is no similar translocation (8p;22q) reported and the chromosomal translocation largely exists of additional 8p22-8pter we compare the clinical outcomes with reported cases of 8p22-8pter triplication, although there is a part of genetic material derived from chromosome 22 present. This unique familial chromosome translocation case from Indonesia will give insight in the underlying mechanism of this recurrent chromosomal abnormality

  19. Complex Variant t(9;22 Chromosome Translocations in Five Cases of Chronic Myeloid Leukemia

    Directory of Open Access Journals (Sweden)

    Ana Valencia

    2009-01-01

    Full Text Available The Philadelphia (Ph1 chromosome arising from the reciprocal t(9;22 translocation is found in more than 90% of chronic myeloid leukemia (CML patients and results in the formation of the chimeric fusion gene BCR-ABL. However, a small proportion of patients with CML have simple or complex variants of this translocation, involving various breakpoints in addition to 9q34 and 22q11. We report five CML cases carrying variant Ph translocations involving both chromosomes 9 and 22 as well as chromosomes 3, 5, 7, 8, or 10. G-banding showed a reciprocal three-way translocation involving 3q21, 5q31, 7q32, 8q24, and 10q22 bands. BCR-ABL fusion signal on der(22 was found in all of the cases by FISH.

  20. Chromosome landmarks and autosome-sex chromosome translocations in Rumex hastatulus, a plant with XX/XY1Y2 sex chromosome system.

    Science.gov (United States)

    Grabowska-Joachimiak, Aleksandra; Kula, Adam; Książczyk, Tomasz; Chojnicka, Joanna; Sliwinska, Elwira; Joachimiak, Andrzej J

    2015-06-01

    Rumex hastatulus is the North American endemic dioecious plant with heteromorphic sex chromosomes. It is differentiated into two chromosomal races: Texas (T) race characterised by a simple XX/XY sex chromosome system and North Carolina (NC) race with a polymorphic XX/XY1Y2 sex chromosome system. The gross karyotype morphology in NC race resembles the derived type, but chromosomal changes that occurred during its evolution are poorly understood. Our C-banding/DAPI and fluorescence in situ hybridization (FISH) experiments demonstrated that Y chromosomes of both races are enriched in DAPI-positive sequences and that the emergence of polymorphic sex chromosome system was accompanied by the break of ancestral Y chromosome and switch in the localization of 5S rDNA, from autosomes to sex chromosomes (X and Y2). Two contrasting domains were detected within North Carolina Y chromosomes: the older, highly heterochromatinised, inherited from the original Y chromosome and the younger, euchromatic, representing translocated autosomal material. The flow-cytometric DNA estimation showed ∼3.5 % genome downsizing in the North Carolina race. Our results are in contradiction to earlier reports on the lack of heterochromatin within Y chromosomes of this species and enable unambiguous identification of autosomes involved in the autosome-heterosome translocation, providing useful chromosome landmarks for further studies on the karyotype and sex chromosome differentiation in this species.

  1. Targeted Chromosomal Translocations and Essential Gene Knockout Using CRISPR/Cas9 Technology in Caenorhabditis elegans.

    Science.gov (United States)

    Chen, Xiangyang; Li, Mu; Feng, Xuezhu; Guang, Shouhong

    2015-12-01

    Many genes play essential roles in development and fertility; their disruption leads to growth arrest or sterility. Genetic balancers have been widely used to study essential genes in many organisms. However, it is technically challenging and laborious to generate and maintain the loss-of-function mutations of essential genes. The CRISPR/Cas9 technology has been successfully applied for gene editing and chromosome engineering. Here, we have developed a method to induce chromosomal translocations and produce genetic balancers using the CRISPR/Cas9 technology and have applied this approach to edit essential genes in Caenorhabditis elegans. The co-injection of dual small guide RNA targeting genes on different chromosomes resulted in reciprocal translocation between nonhomologous chromosomes. These animals with chromosomal translocations were subsequently crossed with animals that contain normal sets of chromosomes. The F1 progeny were subjected to a second round of Cas9-mediated gene editing. Through this method, we successfully produced nematode strains with specified chromosomal translocations and generated a number of loss-of-function alleles of two essential genes (csr-1 and mes-6). Therefore, our method provides an easy and efficient approach to generate and maintain loss-of-function alleles of essential genes with detailed genetic background information. PMID:26482793

  2. Comparative Genomics of Interreplichore Translocations in Bacteria: A Measure of Chromosome Topology?

    Directory of Open Access Journals (Sweden)

    Supriya Khedkar

    2016-06-01

    Full Text Available Genomes evolve not only in base sequence but also in terms of their architecture, defined by gene organization and chromosome topology. Whereas genome sequence data inform us about the changes in base sequences for a large variety of organisms, the study of chromosome topology is restricted to a few model organisms studied using microscopy and chromosome conformation capture techniques. Here, we exploit whole genome sequence data to study the link between gene organization and chromosome topology in bacteria. Using comparative genomics across ∼250 pairs of closely related bacteria we show that: (a many organisms show a high degree of interreplichore translocations throughout the chromosome and not limited to the inversion-prone terminus (ter or the origin of replication (oriC; (b translocation maps may reflect chromosome topologies; and (c symmetric interreplichore translocations do not disrupt the distance of a gene from oriC or affect gene expression states or strand biases in gene densities. In summary, we suggest that translocation maps might be a first line in defining a gross chromosome topology given a pair of closely related genome sequences.

  3. Comparative Genomics of Interreplichore Translocations in Bacteria: A Measure of Chromosome Topology?

    Science.gov (United States)

    Khedkar, Supriya; Seshasayee, Aswin Sai Narain

    2016-01-01

    Genomes evolve not only in base sequence but also in terms of their architecture, defined by gene organization and chromosome topology. Whereas genome sequence data inform us about the changes in base sequences for a large variety of organisms, the study of chromosome topology is restricted to a few model organisms studied using microscopy and chromosome conformation capture techniques. Here, we exploit whole genome sequence data to study the link between gene organization and chromosome topology in bacteria. Using comparative genomics across ∼250 pairs of closely related bacteria we show that: (a) many organisms show a high degree of interreplichore translocations throughout the chromosome and not limited to the inversion-prone terminus (ter) or the origin of replication (oriC); (b) translocation maps may reflect chromosome topologies; and (c) symmetric interreplichore translocations do not disrupt the distance of a gene from oriC or affect gene expression states or strand biases in gene densities. In summary, we suggest that translocation maps might be a first line in defining a gross chromosome topology given a pair of closely related genome sequences.

  4. Chromosome translocations as biological dosimeter identified by in situ fluorescent hybridization (FISH)

    International Nuclear Information System (INIS)

    Chromosomal aberration analysis in lymphocytes is used for dose assessment by workers overexposed to ionizing radiation. The conventional method is based on the dicentric metaphase chromosomes and/or micronucleus scoring, which gives thoroughly satisfactory results for accidental and recent exposures. Nevertheless, when evaluating acute doses occurring in the past or accidents where the time elapsed between exposure and analysis is unknown, the translocations scoring could be the method to use. This is because translocations retain the cell's reproductive potential so that they persist over time. For a long time the detection of translocations for dosimetric purposes was impractical as a routine method until situ fluorescent hybridization (FISH) techniques appeared. This method arising from molecular biology and applied to biological dosimetry has greatly simplified detection and although it is expensive, requiring special infrastructure, its availability is a sign of the state of development for these techniques in the region. The use of translocations scoring for biological dosimetry, as for the dicentric scoring, requires calibration curves for the different types of ionizing radiation. Therefore, the aim of this work was to prepare a dose-effect curve for Co-60 γ rays by chromosome translocations analysis. The study material was peripheral lymphocytes from a clinically healthy donor, irradiated and cultured in vitro and the detection of translocations in chromosomes 1, 2 and 4. The results showed a dose effect curve linear quadratic, accordingly with other authors

  5. Characterization of human PGD blastocysts with unbalanced chromosomal translocations and human embryonic stem cell line derivation?

    Science.gov (United States)

    Frydman, N; Féraud, O; Bas, C; Amit, M; Frydman, R; Bennaceur-Griscelli, A; Tachdjian, G

    2009-01-01

    Novel embryonic stem cell lines derived from embryos carrying structural chromosomal abnormalities obtained after preimplantation genetic diagnosis (PGD) are of interest to study in terms of the influence of abnormalities on further development. A total of 22 unbalanced blastocysts obtained after PGD were analysed for structural chromosomal defects. Morphological description and chromosomal status of these blastocysts was established and they were used to derive human embryonic stem cell (ESC) lines. An outgrowth of cells was observed for six blastocysts (6/22; 27%). For two blastocysts, the exact morphology was unknown since they were at early stage, and for four blastocysts, the inner cell mass was clearly visible. Fifteen blastocysts carried an unbalanced chromosomal defect linked to a reciprocal translocation, resulting in a positive outgrowth of cells for five blastocysts. One human ESC line was obtained from a blastocyst carrying a partial chromosome-21 monosomy and a partial chromosome-1 trisomy. Six blastocysts carried an unbalanced chromosomal defect linked to a Robertsonian translocation, and one showed a positive outgrowth of cells. One blastocyst carried an unbalanced chromosomal defect linked to an insertion and no outgrowth was observed. The efficiency of deriving human ESC lines with constitutional chromosomal disorders was low and probably depends on the initial morphological aspect of the blastocysts and/or the type of the chromosomal disorders.

  6. DNA ligase III promotes alternative nonhomologous end-joining during chromosomal translocation formation.

    Directory of Open Access Journals (Sweden)

    Deniz Simsek

    2011-06-01

    Full Text Available Nonhomologous end-joining (NHEJ is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4, suppresses genomic instability and chromosomal translocations, leading to the notion that a poorly defined, alternative NHEJ (alt-NHEJ pathway generates these rearrangements. Here, we investigate the DNA ligase requirement of chromosomal translocation formation in mouse cells. Mammals have two other DNA ligases, Lig1 and Lig3, in addition to Lig4. As deletion of Lig3 results in cellular lethality due to its requirement in mitochondria, we used recently developed cell lines deficient in nuclear Lig3 but rescued for mitochondrial DNA ligase activity. Further, zinc finger endonucleases were used to generate DNA breaks at endogenous loci to induce translocations. Unlike with Lig4 deficiency, which causes an increase in translocation frequency, translocations are reduced in frequency in the absence of Lig3. Residual translocations in Lig3-deficient cells do not show a bias toward use of pre-existing microhomology at the breakpoint junctions, unlike either wild-type or Lig4-deficient cells, consistent with the notion that alt-NHEJ is impaired with Lig3 loss. By contrast, Lig1 depletion in otherwise wild-type cells does not reduce translocations or affect microhomology use. However, translocations are further reduced in Lig3-deficient cells upon Lig1 knockdown, suggesting the existence of two alt-NHEJ pathways, one that is biased toward microhomology use and requires Lig3 and a back-up pathway which does not depend on microhomology and utilizes Lig1.

  7. Study of position effect as a mechanism arising from chromosomal translocations in leukaemia

    OpenAIRE

    Papucci, Chiara

    2015-01-01

    This thesis was submitted for the award of Master of Philosophy and was awarded by Brunel University London. The chromosomal translocation of t(14;18)(14q32;18q21) is a characteristic aberration of follicular lymphoma and Diffuse Large B cells lymphoma. By PCR, it was proved that the rearrangement of chromosomes 14 and 18 leads to an overexpression of BCL2, an anti-apoptotic protein, which is one of the factors responsible for the maturation of the diseases. The translocation involves the ...

  8. Intermingling of chromosome territories in interphase suggests role in translocations and transcription-dependent associations.

    Directory of Open Access Journals (Sweden)

    Miguel R Branco

    2006-05-01

    Full Text Available After mitosis, mammalian chromosomes partially decondense to occupy distinct territories in the cell nucleus. Current models propose that territories are separated by an interchromatin domain, rich in soluble nuclear machinery, where only rare interchromosomal interactions can occur via extended chromatin loops. In contrast, recent evidence for chromatin mobility and high frequency of chromosome translocations are consistent with significant levels of chromosome intermingling, with important consequences for genome function and stability. Here we use a novel high-resolution in situ hybridization procedure that preserves chromatin nanostructure to show that chromosome territories intermingle significantly in the nucleus of human cells. The degree of intermingling between specific chromosome pairs in human lymphocytes correlates with the frequency of chromosome translocations in the same cell type, implying that double-strand breaks formed within areas of intermingling are more likely to participate in interchromosomal rearrangements. The presence of transcription factories in regions of intermingling and the effect of transcription impairment on the interactions between chromosomes shows that transcription-dependent interchromosomal associations shape chromosome organization in mammalian cells. These findings suggest that local chromatin conformation and gene transcription influence the extent with which chromosomes interact and affect their overall properties, with direct consequences for cell-type specific genome stability.

  9. Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia

    Directory of Open Access Journals (Sweden)

    F. Malvestiti

    2014-01-01

    Full Text Available Chronic myeloid leukemia (CML is a hematopoietic stem cell disorder included in the broader diagnostic category of myeloproliferative neoplasms, associated with fusion by BCR gene at chromosome 22q11 to ABL1 gene at chromosome 9q34 with the formation of the Philadelphia (Ph chromosome. In 2–10% of CML cases, the fusion gene arises in connection with a variant translocation, involving chromosomes 9, 22, and one or more different chromosomes; consequently, the Ph chromosome could be masked within a complex chromosome rearrangement. In cases with variant Ph translocation a deletion on der(9 may be more frequently observed than in cases with the classical one. Herein we describe a novel case of CML with complex variant Ph translocation involving chromosomes 9, 12, and 22. We present the hematologic response and cytogenetic response after Imatinib treatment. We also speculated the mechanism which had originated the chromosome rearrangement.

  10. Chromosomal Translocations in Black Flies (Diptera: Simuliidae)—Facilitators of Adaptive Radiation?

    Science.gov (United States)

    Adler, Peter H.; Yadamsuren, Oyunchuluun; Procunier, William S.

    2016-01-01

    A macrogenomic investigation of a Holarctic clade of black flies—the Simulium cholodkovskii lineage—provided a platform to explore the implications of a unique, synapomorphic whole-arm interchange in the evolution of black flies. Nearly 60 structural rearrangements were discovered in the polytene complement of the lineage, including 15 common to all 138 analyzed individuals, relative to the central sequence for the entire subgenus Simulium. Three species were represented, of which two Palearctic entities (Simulium cholodkovskii and S. decimatum) were sympatric; an absence of hybrids confirmed their reproductive isolation. A third (Nearctic) entity had nonhomologous sex chromosomes, relative to the other species, and is considered a separate species, for which the name Simulium nigricoxum is revalidated. A cytophylogeny is inferred and indicates that the two Palearctic taxa are sister species and these, in turn, are the sister group of the Nearctic species. The rise of the S. cholodkovskii lineage encompassed complex chromosomal and genomic restructuring phenomena associated with speciation in black flies, viz. expression of one and the same rearrangement as polymorphic, fixed, or sex linked in different species; taxon-specific differentiation of sex chromosomes; and reciprocal translocation of chromosome arms. The translocation is hypothesized to have occurred early in male spermatogonia, with the translocated chromosomal complement being transmitted to the X- and Y-bearing sperm during spermatogenesis, resulting in alternate disjunction of viable F1 translocation heterozygotes and the eventual formation of more viable and selectable F2 translocation homozygous progeny. Of 11 or 12 independently derived whole-arm interchanges known in the family Simuliidae, at least six are associated with subsequent speciation events, suggesting a facilitating role of translocations in adaptive radiations. The findings are discussed in the context of potential structural and

  11. Chromosomal Translocations in Black Flies (Diptera: Simuliidae-Facilitators of Adaptive Radiation?

    Directory of Open Access Journals (Sweden)

    Peter H Adler

    Full Text Available A macrogenomic investigation of a Holarctic clade of black flies-the Simulium cholodkovskii lineage-provided a platform to explore the implications of a unique, synapomorphic whole-arm interchange in the evolution of black flies. Nearly 60 structural rearrangements were discovered in the polytene complement of the lineage, including 15 common to all 138 analyzed individuals, relative to the central sequence for the entire subgenus Simulium. Three species were represented, of which two Palearctic entities (Simulium cholodkovskii and S. decimatum were sympatric; an absence of hybrids confirmed their reproductive isolation. A third (Nearctic entity had nonhomologous sex chromosomes, relative to the other species, and is considered a separate species, for which the name Simulium nigricoxum is revalidated. A cytophylogeny is inferred and indicates that the two Palearctic taxa are sister species and these, in turn, are the sister group of the Nearctic species. The rise of the S. cholodkovskii lineage encompassed complex chromosomal and genomic restructuring phenomena associated with speciation in black flies, viz. expression of one and the same rearrangement as polymorphic, fixed, or sex linked in different species; taxon-specific differentiation of sex chromosomes; and reciprocal translocation of chromosome arms. The translocation is hypothesized to have occurred early in male spermatogonia, with the translocated chromosomal complement being transmitted to the X- and Y-bearing sperm during spermatogenesis, resulting in alternate disjunction of viable F1 translocation heterozygotes and the eventual formation of more viable and selectable F2 translocation homozygous progeny. Of 11 or 12 independently derived whole-arm interchanges known in the family Simuliidae, at least six are associated with subsequent speciation events, suggesting a facilitating role of translocations in adaptive radiations. The findings are discussed in the context of potential

  12. Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12

    Directory of Open Access Journals (Sweden)

    Berrin Tezcan

    2015-01-01

    Full Text Available Case Details. We report rare familial unbalanced translocation of chromosomes 7 and 12, which was diagnosed prenatally at 20+3 weeks of gestation. Woman’s partner had been tested in the past and was found to be a carrier of a balanced translocation; his karyotype showed a balanced reciprocal translocation of 46, XY, t(7;12(q34;q24,32. Partner’s brother had an unbalanced form of the translocation with severe learning disability. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound and microarray analysis. Ultrasonography findings included fetal microcephaly and alobar holoprosencephaly, dysmorphic face (flat occiput, absent nasal bone, microphthalmia, hypotelorism, and single nostril, and hyperechogenic bowel. Genome-wide array analysis and cytogenetic results from the amniotic fluid showed unbalanced translocation in chromosomes 7 and 12 with deletion of an approximately 16.5 Mb and a duplication of 6.1 Mb, respectively, Arr 7q34q36.3(142,668,576-159,161,648x1,12q24.32q24.33(127,708,720-133,777,560x3, karyotype (der (7 t(7;12 (q34;q24pat. This unbalanced translocation was due to the segregation of the father’s balanced translocation. In this particular case, the recurrence of an unbalanced translocation in the subsequent pregnancies is estimated to be 20%. Understanding the individuals’ phenotype in association with the gain and loss of copy number is important and can further provide us with information on that particular region of the named chromosomes.

  13. Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting.

    Science.gov (United States)

    Abuelo, D N; Ahsanuddin, A N; Mark, H F

    2000-10-23

    We describe the case of a 13-year-old girl with an apparently de novo unbalanced translocation resulting in the presence of additional chromosomal material on the short arm of one X chromosome, which was detected by conventional G-banding studies. Fluorescence in situ hybridization (FISH) using the Chromoprobe Multiprobe-M protocol confirmed that the additional chromosomal material originated from chromosome 5. The karyotype of this patient is now established to be 46,X,der(X) t(X;5)(p22.3;q33), with a deletion of Xp22.3-pter and partial trisomy of 5q33-qter. The distal 5q trisomy genotype has been associated with clinical signs that include growth and mental retardation, eczema, craniofacial anomalies, and malformations of heart, lungs, abdomen, limbs, and genitalia. Our patient also has short stature, a prominent nasal bridge, a flat philtrum, a thin upper lip, dental caries, and limb and cardiac malformations, but she appears to be mildly affected compared with previously reported cases. This is the first case of distal 5q trisomy arising from a translocation with the X chromosome. Replication studies on this patient show that the derivative t(X;5) chromosome is late replicating in almost all cells examined, which indicates that this chromosome is preferentially inactivated. However, the translocated segment of chromosome 5 appears to be early replicating, which implies that the trisomic 5q segment is transcriptionally active. We cannot determine from these studies whether all or only some genes in this segment are expressed, but this patient's relatively mild clinical signs suggest that the critical region(s) that contribute to the distal 5q trisomy phenotype are at least partly suppressed. A review of other patients with X-chromosome translocations indicates that many but not all of them also have attenuated phenotypes. The mechanism of inactivation of autosomal material attached to the X chromosome is complex, with varying effects on the phenotype of the

  14. Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation

    OpenAIRE

    Sheth, Frenny; Liehr, Thomas; Shah, Krati; Sheth, Jayesh

    2015-01-01

    Background Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity. Case characteristics A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique. Results Chromosomal analysis for the couple was performed. A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father. Discussion Investigations o...

  15. An essential role for CtIP in chromosomal translocation formation through an alternative end-joining pathway

    OpenAIRE

    Zhang, Yu; Jasin, Maria

    2010-01-01

    Chromosomal translocations arise from the misjoining of DNA breaks, but the identity of the DNA repair factors and activities involved in their formation has been elusive. Here we show that depletion of CtIP, a DNA end-resection factor, results in a substantial decrease in chromosomal translocation frequency in mouse cells. Moreover, microhomology usage, a signature of the alternative nonhomologous end-joining pathway (alt-NHEJ), is significantly lower in translocation breakpoint junctions re...

  16. MOLECULAR CHARACTERIZATION OF A RECURRING COMPLEX CHROMOSOMAL TRANSLOCATION IN 2 HUMAN EXTRAGONADAL GERM-CELL TUMORS

    NARCIS (Netherlands)

    SINKE, RJ; WEGHUIS, DO; SUIJKERBUIJK, RF; TANIGAMI, A; NAKAMURA, Y; LARSSON, C; WEBER, G; DEJONG, B; OOSTERHUIS, JW; MOLENAAR, WM; VANKESSEL, AG

    1994-01-01

    The molecular characterization of a recurring complex chromosomal translocation involving 6p21, 6p22, 6p23, and 11q13 in two independent bur similar extragonadal human germ cell rumors was initiated using fluorescence in situ hybridization (FISH) and pulse field gel electrophoresis (PFGE) techniques

  17. Molecular characterization of a recurring complex chromosomal translocation in two human extragonadal germ cell tumors.

    NARCIS (Netherlands)

    Sinke, R J; Weghuis, D O; Suijkerbuijk, R F; Tanigami, A; Nakamura, Y; Larsson, C; Weber, G; Jong, B de; Oosterhuis, J W; Molenaar, W M

    1994-01-01

    The molecular characterization of a recurring complex chromosomal translocation involving 6p21, 6p22, 6q23, and 11q13 in two independent but similar extragonadal human germ cell tumors was initiated using fluorescence in situ hybridization (FISH) and pulse field gel electrophoresis (PFGE) techniques

  18. Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

    DEFF Research Database (Denmark)

    Borg, Isabella; Freude, Kristine; Kübart, Sabine;

    2005-01-01

    We have identified a girl with characteristic features of Rett syndrome (RTT) who carries a de novo balanced translocation involving chromosomes 1 and 7. Both breakpoints were mapped by fluorescence in situ hybridization with selected genomic clones from the regions of interest. Southern blot...

  19. Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH

    NARCIS (Netherlands)

    de Pater, JM; Ippel, PF; van Dam, WM; Loneus, WH; Engelen, JJM

    2002-01-01

    We describe a family with an insertion 12;9 translocation occurring in a balanced form in a mother and two sons, but in an unbalanced form in the proband, resulting in trisomy of chromosome region 9p22-->9p24. The proband manifests typical features of trisomy 9p; the clinical signs were mental and g

  20. Breeding few-seed/seedless watermelon via chromosome reciprocal translocation induced by gamma-ray

    International Nuclear Information System (INIS)

    The development of autotriploid watermelon was a great advance in the field of watermelon breeding. However, some disadvantages still existed with this type of seedless watermelon. Partial sterility may be induced in diploid watermelon via chromosome reciprocal translocation. We used gamma-rays to irradiate the seeds of homozygous translocation strains with one translocation ring composed of 4 chromosomes (symbol (4) ). Watermelon strains were 'Asahi Yamato', 'Mioyaka', and 'Fumin' saent to us by H. Kihara in 1977. In order to further induce multiple reciprocal translocations for developing new few-seed/seedless watermelon strains, the seeds of the above 3 strains were sown for further selfing in 1978. The seeds of each selfed fruit were grown as a single plant line in 1979 for evaluation of their characters. In addition, some crosses between common diploid watermelon cultivars and translocations were carried out to test the seed setting rate of the heterozygous translocation strains. Some of the crosses were 'Sugar Baby' x 'Asahi Yamato AT-1' and 'Akakotama' x Asahi Yamato AT-2'. The plump seed setting rate of the F1 of these crosses were ca. 50%

  1. Amplification of chromosomal translocation junctions from paraffin-embedded tissues of follicular lymphoma patients

    Energy Technology Data Exchange (ETDEWEB)

    Nambiar, Mridula; Raghavan, Sathees C [Department of Biochemistry, Indian Institute of Science, Bangalore-560 012 (India); Choudhary, Bibha [Manipal Institute of Regenerative Medicine, Manipal University, Bangalore-560 071 (India); Rao, Clementina R [Department of Pathology, Kidwai Memorial Institute of Oncology, Bangalore-560 029 (India)], E-mail: sathees@biochem.iisc.ernet.in

    2008-09-01

    Follicular lymphoma is associated with the t(14;18) translocation, which is one of the most common chromosomal translocations in cancer. Generally, tissues from such patients are preserved as formalin-fixed and paraffin-embedded samples. Most of the time, retrieving the molecular information from such samples is hampered due to quality of preservation, extraction procedures and reaction conditions. In the present study, we isolate the chromosomal DNA from the paraffin-embedded nodal tissues of lymphoma patients and use a highly sensitive nested PCR approach to detect t(14;18) translocation. Our studies show that despite the sheared DNA obtained, appropriate modification of PCR reaction conditions can help in obtaining the desired amplifications. The DNA extraction protocol from paraffin-embedded nodal tissues and modifications in the PCR conditions are discussed. This study would contribute to the successful use of archival tissue samples in obtaining valuable information for cancer research.

  2. Amplification of chromosomal translocation junctions from paraffin-embedded tissues of follicular lymphoma patients

    International Nuclear Information System (INIS)

    Follicular lymphoma is associated with the t(14;18) translocation, which is one of the most common chromosomal translocations in cancer. Generally, tissues from such patients are preserved as formalin-fixed and paraffin-embedded samples. Most of the time, retrieving the molecular information from such samples is hampered due to quality of preservation, extraction procedures and reaction conditions. In the present study, we isolate the chromosomal DNA from the paraffin-embedded nodal tissues of lymphoma patients and use a highly sensitive nested PCR approach to detect t(14;18) translocation. Our studies show that despite the sheared DNA obtained, appropriate modification of PCR reaction conditions can help in obtaining the desired amplifications. The DNA extraction protocol from paraffin-embedded nodal tissues and modifications in the PCR conditions are discussed. This study would contribute to the successful use of archival tissue samples in obtaining valuable information for cancer research

  3. A model of oncogenic rearrangements: differences between chromosomal translocation mechanisms and simple double-strand break repair

    OpenAIRE

    Weinstock, David M.; Elliott, Beth; Jasin, Maria

    2006-01-01

    Recurrent reciprocal translocations are present in many hematologic and mesenchymal malignancies. Because significant sequence homology is absent from translocation breakpoint junctions, non-homologous end-joining (NHEJ) pathways of DNA repair are presumed to catalyze their formation. We developed translocation reporters for use in mammalian cells from which NHEJ events can be selected after precise chromosomal breakage. Translocations were efficiently recovered with these reporters using mou...

  4. Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?

    Directory of Open Access Journals (Sweden)

    Betri Enrico

    2009-09-01

    Full Text Available Abstract Background Premature ovarian failure (POF is a secondary hypergonadotrophic amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome anomalies account for 6-8% of POF cases, but only few cases are associated with translocations involving X and Y chromosomes. This study shows the cytogenetic and molecular analysis of a POF patient came to our attention as she developed a left ovary choriocarcinoma at the age of 10 and at 14 years of age she presented secondary amenorrhea with elevated levels of gonadotropins. Results Breakpoint position on X and Y chromosomes was investigated using Fluorescent In Situ Hybridisation (FISH with a panel of specific BAC probes, microsatellite analysis and evaluation of copy number changes and loss of heterozigosity by Affymetrix® GeneChip platform (Santa Clara, CA, USA. Patient's karyotype resulted 46, X, der(Yt(X;Y(q13.1;q11.223. X inactivation study was assessed by RBA banding and showed preferential inactivation of derivative chromosome. The reciprocal spatial disposition of sexual chromosome territories was investigated using whole chromosome painting and centromeres probes: patient's results didn't show a significant difference in comparison to normal controls. Conclusion The peculiar clinical case come to our attention highlighted the complexity of POF aetiology and of the translocation event, even if our results seem to exclude any effect on nuclear organisation. POF phenotype could be partially explained by skewed X chromosome inactivation that influences gene expression.

  5. Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients

    Directory of Open Access Journals (Sweden)

    Zhang Cheng

    2002-08-01

    Full Text Available Abstract Background Facioscapulohumeral muscular dystrophy (FSHD is an autosomal dominant disorder characterized by the weakness of facial, shoulder-girdle and upper arm muscles. Most patients with FSHD have fewer numbers of tandem repeated 3.3-kb KpnI units on chromosome 4q35. Chromosome 10q26 contains highly homologous KpnI repeats, and inter-chromosomal translocation has been reported. Methods To clarify the influence on the deletion of the repeats, we surveyed three different ethnic populations and FSHD patients using the BglII/BlnI dosage test. Results The frequency of translocation in 153 Japanese, 124 Korean, 114 Chinese healthy individuals and 56 Japanese 4q35-FSHD patients were 27.5%, 29.8%, 19.3%, and 32.1%, respectively. The ratio of '4 on 10' (trisomy and quatrosomy of chromosome 4 was higher than that of '10 on 4' (nullsomy and monosomy of chromosome 4 in all populations. Conclusions The inter-chromosomal exchange was frequently observed in all four populations we examined, and no significant difference was observed between healthy and diseased groups.

  6. Induction of small-segment-translocation between wheat and rye chromosomes

    Institute of Scientific and Technical Information of China (English)

    任正隆; 张怀琼

    1997-01-01

    A new approach to produce wheat-rye translocation, based on the genetic instability caused by monosomic addition of rye chromosome in wheat, is described. 1 283 plants from the selfed progenies of monosomic addition lines with single chromosome of inbred rye line R12 and complete chromosome complement of wheat cultivar Mianyang 11 were cytologically analyzed on a plant-by-plant basis by the improved C-banding technique. 63 of the plants, with 2n = 42, were found containing wheat-rye translocation or substitution, with a frequency of 4. 91% . Compared with the wheat parent, other 32 plants with 2n = 42 exhibited obvious phenotypic variation, but their com-ponent of rye chromosome could not be detected using the C-banding technique. In situ hybridization with a biotin-la-beled DNA probe was used to detect rye chromatin and to determine the insertion sites of rye segments in the wheat chromosomes. In 20 out of the 32 variant wheat plants, small segments of rye chromosomes were found being inserted into dif

  7. Clonal diversification of primary BALB/c plasmacytomas harboring T(12;15) chromosomal translocations.

    Science.gov (United States)

    Kovalchuk, A L; Mushinski, E B; Janz, S

    2000-05-01

    DNA sequence analysis of PCR amplified Igh/c-myc junction fragments of T(12;15) chromosome translocations and immunohistochemical determination of immunoglobulin isotype production were employed to study the clonal diversification of neoplastic translocated plasma cells that resided in peritoneal inflammatory granulomas of BALB/c mice harboring primary plasmacytomas. The diversity of plasma cells was found to take two major forms when the fine structure of the T(12;15) translocation was used as the clonotypic marker. First, mosaics of clones containing translocations that were apparently unrelated to each other were detected in nine out of 17 (53%) mice. Second, subclones derived from common T(12;15)+ progenitors by either secondary deletions in translocation breakpoint regions or aberrant isotype switching near translocation breaksites were found in five of 17 (29.5%) mice. When Ig expression was utilized as the clonotypic marker, clonal mosaics were shown to occur in all mice. This was demonstrated by the finding that the prevalent IgA- or IgG-producing plasmacytoma clone was invariably accompanied by smaller clones of IgG- or IgA-expressing neoplastic plasma cells, respectively. These results provided new insights into the clonal diversification at the terminal stage of plasmacytomagenesis. In addition, they suggested that BALB/c plasmacytomas may be uniquely useful for studying clonal diversity during B cell oncogenesis, since clonal evolution can be evaluated in a pool of tumor and tumor precursor cells that is clearly defined by the T(12;15) chromosomal translocation and the production of monoclonal immunoglobulin.

  8. DETECTION OF t(14; 18) CHROMOSOMAL TRANSLOCATION IN PARAFFIN-EMBEDDED HEPATOCELLULAR CARCINOMA TISSUE BY IN SITU PCR

    Institute of Scientific and Technical Information of China (English)

    GUO Lin-lang; XIAO Sha; GUO Ying

    1999-01-01

    Objective: To understand the relationship between (14; 18) chromosomal translocation and hepatocellular carcinoma. Methods: Semi-nested in situ PCR (SNISPCR) technique was used to detected bcl-2/JH fusion gene in 40 cases of hepatocellular carcinoma (HCC). Results: Bcl-2/JH fusion gene was detected in 10 of 40 HCC. There were no significant differences in bcl-2/JH fusion formation between histopathological grades and metastases (P>0.05). Conclusion: By detecting bcl-2 fusion gene in HCC, we think that t(14;18) chromosomal translocation is not a specific change in lymphoma, t(14; 18) chromosomal translocation may not an important cause in pathologensis of HCC.

  9. Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22.

    Science.gov (United States)

    Aviv, H; Lieber, C; Yenamandra, A; Desposito, F

    1997-06-27

    Chromosome analysis of a newborn boy with Down syndrome resulted in the identification of a family with an unusual derivative chromosome 22. The child has 46 chromosomes, including two chromosomes 21, one normal chromosome 22, and a derivative chromosome 22. Giemsa banding and fluorescent in situ hybridization (FISH) studies show that the derivative chromosome is chromosome 22 with evidence of both paracentric and pericentric inversions, joined to the long arm of chromosome 21 from 21q21.2 to qter. The rearrangement results in partial trisomy 21 extending from 21q21.2 to 21q terminus in the patient. The child's mother, brother, maternal aunt, and maternal grandmother are all carriers of the derivative chromosome. All have 45 chromosomes, with one normal chromosome 21, one normal chromosome 22, and the derivative chromosome 22. The rearrangement results in the absence of the short arm, the centromere, and the proximal long arm of chromosome 21 (del 21pter-21q21.2) in carriers. Carriers of the derivative chromosome in this family have normal physical appearance, mild learning disabilities and poor social adjustment. PMID:9182781

  10. Birth of a child with Down syndrome in a family transmitting an unusual chromosome 22 arising from a translocation between chromosomes 21 and an inverted chromosome 22

    Energy Technology Data Exchange (ETDEWEB)

    Aviv, H.A.; Desposito, F. [UMDNJ-NJ Medical School, Newark, NJ (United States); Lieber, C. [Hackensack Medical Center, NJ (United States)

    1994-09-01

    Chromosomal analysis of a child with Down syndrome resulted in the identification of a family with an unusual translocation and in the definition of the translocation breakpoints. Studies were performed on the child, his siblings, mother, mother`s sister, and grandmother. All of the family members were carriers of the translocation. We performed G-banding, silver stain, C-banding, and hybridization with the following FISH probes (Oncor): {alpha}-satellite 13/21; {beta}-satellite, coatasome 21 and 22, and the probes for chromosome 22 at 22q11 (DiGeorge region) and 22q13.3 (control region). Using the banding techniques and probes, we characterized the karyotype as: 45,XX,-21,-22,+der(22),t(21;22)(22qter{r_arrow}22q11.2::22p13{r_arrow}22q11.2::21q11.2{r_arrow}21qter). The effect of deletion of 21q11.2 and the break of chromosome 22 in the DiGeorge region in this family is not clear. However, the presence of the translocation increases the risk of family members of conceiving children with Down syndrome.

  11. Genomic hallmarks of genes involved in chromosomal translocations in hematological cancer.

    Directory of Open Access Journals (Sweden)

    Mikhail Shugay

    Full Text Available Reciprocal chromosomal translocations (RCTs leading to the formation of fusion genes are important drivers of hematological cancers. Although the general requirements for breakage and fusion are fairly well understood, quantitative support for a general mechanism of RCT formation is still lacking. The aim of this paper is to analyze available high-throughput datasets with computational and robust statistical methods, in order to identify genomic hallmarks of translocation partner genes (TPGs. Our results show that fusion genes are generally overexpressed due to increased promoter activity of 5' TPGs and to more stable 3'-UTR regions of 3' TPGs. Furthermore, expression profiling of 5' TPGs and of interaction partners of 3' TPGs indicates that these features can help to explain tissue specificity of hematological translocations. Analysis of protein domains retained in fusion proteins shows that the co-occurrence of specific domain combinations is non-random and that distinct functional classes of fusion proteins tend to be associated with different components of the gene fusion network. This indicates that the configuration of fusion proteins plays an important role in determining which 5' and 3' TPGs will combine in specific fusion genes. It is generally accepted that chromosomal proximity in the nucleus can explain the specific pairing of 5' and 3' TPGS and the recurrence of hematological translocations. Using recently available data for chromosomal contact probabilities (Hi-C we show that TPGs are preferentially located in early replicated regions and occupy distinct clusters in the nucleus. However, our data suggest that, in general, nuclear position of TPGs in hematological cancers explains neither TPG pairing nor clinical frequency. Taken together, our results support a model in which genomic features related to regulation of expression and replication timing determine the set of candidate genes more likely to be translocated in

  12. A De Novo Case of Floating Chromosomal Polymorphisms by Translocation in Quasipaa boulengeri (Anura, Dicroglossidae)

    OpenAIRE

    Liyan Qing; Yun Xia; Yuchi Zheng; Xiaomao Zeng

    2012-01-01

    Very few natural polymorphisms involving interchromosomal reciprocal translocations are known in amphibians even in vertebrates. In this study, thirty three populations, including 471 individuals of the spiny frog Quasipaa boulengeri, were karyotypically examined using Giemsa stain or FISH. Five different karyomorphs were observed. The observed heteromorphism was autosomal but not sex-related, as the same heteromorphic chromosomes were found both in males and females. Our results indicated th...

  13. Nuclear positioning, higher-order folding, and gene expression of Mmu15 sequences are refractory to chromosomal translocation

    OpenAIRE

    Snow, Kathy J.; Wright, Sarah M.; Woo, Yong; Titus, Laura C.; Mills, Kevin D.; Shopland, Lindsay S.

    2010-01-01

    Nuclear localization influences the expression of certain genes. Chromosomal rearrangements can reposition genes in the nucleus and thus could impact the expression of genes far from chromosomal breakpoints. However, the extent to which chromosomal rearrangements influence nuclear organization and gene expression is poorly understood. We examined mouse progenitor B cell lymphomas with a common translocation, der(12)t(12;15), which fuses a gene-rich region of mouse chromosome12 (Mmu12) with a ...

  14. A chromosomal translocation causing multiple abnormalities including open eyelids at birth and glomerulonephritis.

    Science.gov (United States)

    Guarnieri, Mary H; Cacheiro, Nestor L; Rudofsky, Ulrich H; Montgomery, Jeffry C; Collins, Doris N; Flaherty, Lorraine A

    2002-08-01

    We have characterized the phenotype of a mouse with a t(2;13) reciprocal translocation induced by chlorambucil. It results in abnormal eyelid formation as well as a series of neurological, physiological, and immunological abnormalities. This mutant has been termed T(2;13)1Fla/+. T(2;13)1Fla/+ mice exhibit open eyelids at birth, a dilute coat color, hyperactivity, and occasional circling and stargazing activity. At 1-6 months, T(2;13)1Fla/+ mice show signs of immune complex-mediated glomerulonephritis and die prematurely. Additionally, double-stranded DNA autoantibodies have been found in sera of T(2;13)1Fla/+ mice. Cytogenetic analysis situated the translocation breakpoint at the proximal end of Chromosome (chr) 2 at band A2, and on Chr 13 at band A4. The mutant phenotype completely correlated with the presence of the translocation. Additional genetic studies have mapped the mutation and translocation breakpoint to Chr 13 between D13Mit16 and D13Mit64, and to Chr 2 proximal to D2Mit5. By fluorescent in situ hybridization (FISH), the position of this mutation/translocation on Chr 13 has been mapped to a region less than 1cM from D13Mit61. PMID:12226706

  15. Inverted duplication of JH associated with chromosome 14 translocation and T-cell leukemia in ataxia-telangiectasia.

    OpenAIRE

    Johnson, J P; Gatti, R A; Sears, T S; White, R. L.

    1986-01-01

    A specific 14q32 breakpoint is observed in a homologous chromosome 14 translocation [t(14;14)q12q32] occurring in the T-cells of about 10% of patients with ataxia-telangiectasia (AT). To investigate whether the 14q32 breakpoint in AT occurs within the immunoglobulin gene cluster as is frequently detected in B-cell lymphoma, immunoglobulin clones were hybridized to Southern blots of DNA isolated from the T-cells of two AT patients with this chromosome 14 translocation. The 14q32 translocation ...

  16. Inducible chromosomal translocation of AML1 and ETO genes through Cre/loxP-mediated recombination in the mouse

    OpenAIRE

    Buchholz, Frank; Refaeli, Yosef; Trumpp, Andreas; Bishop, J. Michael

    2000-01-01

    Transgenic mice have been used to explore the role of chromosomal translocations in the genesis of tumors. But none of these efforts has actually involved induction of a translocation in vivo. Here we report the use of Cre recombinase to replicate in vivo the t(8;21) translocation found in human acute myeloid leukemia (AML). As in the human tumors, the murine translocation fuses the genes AML1 and ETO. We used homologous recombination to place loxP sites at loci that were syntenic with the br...

  17. Nucleoporin translocated promoter region (Tpr) associates with dynein complex, preventing chromosome lagging formation during mitosis.

    Science.gov (United States)

    Nakano, Hiroshi; Funasaka, Tatsuyoshi; Hashizume, Chieko; Wong, Richard W

    2010-04-01

    Gain or loss of whole chromosomes is often observed in cancer cells and is thought to be due to aberrant chromosome segregation during mitosis. Proper chromosome segregation depends on a faithful interaction between spindle microtubules and kinetochores. Several components of the nuclear pore complex/nucleoporins play critical roles in orchestrating the rapid remodeling events that occur during mitosis. Our recent studies revealed that the nucleoporin, Rae1, plays critical roles in maintaining spindle bipolarity. Here, we show association of another nucleoporin, termed Tpr (translocated promoter region), with the molecular motors dynein and dynactin, which both orchestrate with the spindle checkpoints Mad1 and Mad2 during cell division. Overexpression of Tpr enhanced multinucleated cell formation. RNA interference-mediated knockdown of Tpr caused a severe lagging chromosome phenotype and disrupted spindle checkpoint proteins expression and localization. Next, we performed a series of rescue and dominant negative experiments to confirm that Tpr orchestrates proper chromosome segregation through interaction with dynein light chain. Our data indicate that Tpr functions as a spatial and temporal regulator of spindle checkpoints, ensuring the efficient recruitment of checkpoint proteins to the molecular motor dynein to promote proper anaphase formation.

  18. High dietary niacin intake is associated with decreased chromosome translocation frequency in airline pilots.

    Science.gov (United States)

    Yong, Lee C; Petersen, Martin R

    2011-02-01

    Experimental studies suggest that B vitamins such as niacin, folate, riboflavin, vitamin B6 and vitamin B12 may protect against DNA damage induced by ionising radiation (IR). However, to date, data from IR-exposed human populations are not available. We examined the intakes of these B vitamins and their food sources in relation to the frequency of chromosome translocations as a biomarker of cumulative DNA damage, in eighty-two male airline pilots. Dietary intakes were estimated by using a self-administered semi-quantitative FFQ. Translocations in peripheral blood lymphocytes were scored by using fluorescence in situ hybridisation whole-chromosome painting. Negative binomial regression was used to estimate rate ratios and 95 % CI, adjusted for age and occupational and lifestyle factors. We observed a significant inverse association between translocation frequency and dietary intake of niacin (P = 0·02): adjusted rate ratio for subjects in the highest tertile compared with the lowest tertile was 0·58 (95 % CI 0·40, 0·83). Translocation frequency was not associated with total niacin intake from food and supplements as well as dietary or total intake of folate, riboflavin or vitamin B6 or B12. However, the adjusted rate ratios were significant for subjects with ≥ median compared with < median intake of whole grains (P = 0·03) and red and processed meat (P = 0·01): 0·69 (95 % CI 0·50, 0·96) and 1·56 (95 % CI 1·13, 2·16), respectively. Our data suggest that a high intake of niacin from food or a diet high in whole grains but low in red and processed meat may protect against cumulative DNA damage in IR-exposed persons.

  19. The mechanism of chromosomal translocation t(11;14) involving the T-cell receptor C delta locus on human chromosome 14q11 and a transcribed region of chromosome 11p15.

    OpenAIRE

    Boehm, T.; Baer, R; Lavenir, I; Forster, A; Waters, J J; Nacheva, E; Rabbitts, T H

    1988-01-01

    A chromosomal translocation t(11;14) (p15;q11) is described in a human acute T-cell leukaemia of immature phenotype (CD3-, CD4-, CD8-). The translocation occurs at a T-cell receptor joining J delta segment, 12 kb upstream of the constant C delta gene and 98 kb upstream of the C alpha gene at chromosome band 14q11. Nucleotide sequencing shows that both J delta and C delta are very conserved between mouse and man. The region of chromosome 11 involved in the translocation is transcriptionally ac...

  20. Characterization of Common Chromosomal Translocations and Their Frequencies in Acute Myeloid Leukemia Patients of Northwest Iran

    Directory of Open Access Journals (Sweden)

    Elnaz Amanollahi Kamaneh

    2016-04-01

    Full Text Available Objective: Detection of chromosomal translocations has an important role in diagnosis and treatment of hematological disorders. We aimed to evaluate the 46 new cases of de novo acute myeloid leukemia (AML patients for common translocations and to assess the effect of geographic and ethnic differences on their frequencies. Materials and Methods: In this descriptive study, reverse transcriptase-polymerase chain reaction (RT-PCR was used on 46 fresh bone marrow or peripheral blood samples to detect translocations t (8; 21, t (15; 17, t (9; 11 and inv (16. Patients were classified using the French-American-British (FAB criteria in to eight sub-groups (M0-M7. Immunophenotyping and biochemical test results of patients were compared with RT-PCR results. Results: Our patients were relatively young with a mean age of 44 years. AML was relatively predominant in female patients (54.3% and most of patients belonged to AML-M2. Translocation t (8; 21 had the highest frequency (13% and t (15; 17 with 2.7% incidence was the second most frequent. CD19 as an immunophenotypic marker was at a relatively high frequency (50% in cases with t (8; 21, and patients with this translocation had a specific immunophenotypic pattern of complete expression of CD45, CD38, CD34, CD33 and HLA-DR. Conclusion: Similarities and differences of results in Iran with different parts of the world can be explained with ethnic and geographic factors in characterizations of AML. Recognition of these factors especially in other comprehensive studies may aid better diagnosis and management of this disease.

  1. Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation

    Energy Technology Data Exchange (ETDEWEB)

    Scott, J.A.; Wenger, S.L.; Chakravarti, A. [Univ. of Pittsburgh, PA (United States)] [and others

    1995-03-13

    A 9-year-old, mildly mentally retarded girl presented with phenotypic manifestations of Down syndrome. G-banded chromosomal analyses of peripheral blood lymphocytes from the patient and her parents, and skin fibroblasts from the patient, did not detect any abnormality. Molecular analysis of 15 highly polymorphic chromosome 21 dinucleotide repeat markers demonstrated a partial duplication of the Down syndrome critical region (D21S55, subband 21q22.2) of maternal origin in the patient. The segmental trisomy was confirmed by FISH analysis using the cosmid probe D21S55. Further analysis demonstrated that the trisomy was due to segregation of an apparently balanced cryptic translocation from the mother. The patient`s karyotype is 46,XX,-12,tder(12)t(12;21)(p13.1;q22.2)mat. 21 refs., 3 figs., 1 tab.

  2. BCL2 protein expression in follicular lymphomas with t(14;18) chromosomal translocations.

    Science.gov (United States)

    Masir, Noraidah; Campbell, Lisa J; Goff, Lindsey K; Jones, Margaret; Marafioti, Teresa; Cordell, Jacqueline; Clear, Andrew J; Lister, T Andrew; Mason, David Y; Lee, Abigail M

    2009-03-01

    The t(14;18)(q32;q21) chromosomal translocation induces BCL2 protein overexpression in most follicular lymphomas. However the expression of BCL2 is not always homogeneous and may demonstrate a variable degree of heterogeneity. This study analysed BCL2 protein expression pattern in 33 cases of t(14;18)-positive follicular lymphomas using antibodies against two different epitopes (i.e. the widely used antibody BCL2/124 and an alternative antibody E17). 16/33 (49%) cases demonstrated strong BCL2 expression. In 10/33 (30%) cases, BCL2 expression was heterogeneous and in some of these, its loss appeared to be correlated with cell proliferation, as indicated by Ki67 expression. Double immunofluorescence labelling confirmed an inverse BCL2/Ki67 relationship, where in 24/28 (86%) cases cellular expression of BCL2 and Ki67 was mutually exclusive. In addition, seven BCL2 'pseudo-negative' cases were identified in which immunostaining was negative with antibody BCL2/124, but positive with antibody E17. Genomic DNA sequencing of these 'pseudo-negative' cases demonstrated eleven mutations in four cases and nine of these were missense mutations. It can be concluded that in follicular lymphomas, despite carrying the t(14;18) translocations, BCL2 protein expression may be heterogeneous and loss of BCL2 could be related to cell proliferation. Secondly, mutations in translocated BCL2 genes appear to be common and may cause BCL2 pseudo-negative immunostaining. PMID:19120369

  3. The chromosome 14 breakpoint in neoplastic B cells with the t(11;14) translocation involves the immunoglobulin heavy chain locus.

    OpenAIRE

    Erikson, J; Finan, J; Tsujimoto, Y; Nowell, P C; Croce, C M

    1984-01-01

    We hybridized neoplastic cells from a patient with chromic lymphocytic leukemia of the B-cell type, which carried a reciprocal chromosomal translocation between chromosomes 11 (q13) and 14 (q32) with mouse plasmacytoma cells. The hybrid cells were studied for the presence, rearrangement, and expression of the human immunoglobulin mu chain locus. The results indicate that the expressed mu chain gene is located on the normal chromosome 14, whereas the 14q+ translocation chromosome carries the e...

  4. A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation.

    Science.gov (United States)

    Sahoo, Trilochan; Naeem, Rizwan; Pham, Kim; Chheng, Sou; Noblin, Sarah T; Bacino, Carlos A; Gambello, Michael J

    2005-02-15

    We report on the clinical and cytogenetic findings in a newborn with a de novo isochromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between chromosome 18p telomere and chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isochromosome cases may be more common than appreciated.

  5. Identification by R-banding and FISH of chromosome arms involved in Robertsonian translocations in several deer species.

    Science.gov (United States)

    Bonnet-Garnier, A; Claro, F; Thévenon, S; Gautier, M; Hayes, H

    2003-01-01

    We constructed and analyzed the RBG-banded karyotype of five deer species: Chital (Axis axis), White-lipped deer (Cervus albirostris), Rusa deer (Cervus timorensis russa), Sambar deer (Cervus unicolor) and Eld's deer (Cervus eldi siamensis). Among these five species, only Eld's deer had been previously karyotyped using R-banding. In order to identify all the chromosome correspondences with cattle and precisely which chromosome arms are involved in Robertsonian translocations, we compared the karyotypes of these five species with those of the closely related and well-characterized species, cattle (Bos taurus) and Vietnamese Sika deer (Cervus nippon pseudaxis). Among these six deer species (the five above plus the Vietnamese Sika deer), we found thirteen different Robertsonian translocations involving nineteen different chromosome arms. Thirteen chromosome arms were identified by comparison of R-banding patterns only and the remaining six were either confirmed or identified by FISH-mapping of bovine or caprine probes previously localized in cattle. Finally, we observed that five of the thirteen Robertsonian translocations are shared by at least two species and that some chromosome arms are more frequently involved in Robertsonian translocations than others. PMID:14606627

  6. Robertsonian translocation between chromosomes (no.21/14) in relation to the history of spontaneous abortion in a family

    OpenAIRE

    Mohammad Hasanzadeh-NazarAbadi; Fatemeh Baghbani; Iman Namazi; Salmeh Mirzaee

    2014-01-01

    Background: Approximately 205 million pregnancies occur each year in the worldwide. On the other hand, Spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. In order to search for balanced chromosomal rearrangement and ...

  7. Expression of the bcl-2 oncogene protein is not specific for the 14;18 chromosomal translocation.

    OpenAIRE

    F. Pezzella(Istituto Nazionale di Fisica Nucleare, Sezione di Napoli, Complesso Universitario di Monte S. Angelo ed. 6, via Cintia, 80126 Napoli, Italy); Tse, A G; Cordell, J L; Pulford, K. A.; Gatter, K C; Mason, D Y

    1990-01-01

    It has been reported previously that the bcl-2 protooncogene protein is detectable in neoplastic cells from cases of human lymphoma in which the 14;18 chromosomal translocation is present, but not in lymphomas that lack this chromosomal rearrangement or in normal lymphoid tissue. In the present study we confirmed, by immunohistologic labeling with polyclonal and monoclonal antibodies, that bcl-2 protein is strongly expressed in many cases of follicular lymphoma and that these neoplastic folli...

  8. Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)

    OpenAIRE

    Zafer, Emre; Meck, Jeanne; Gerrad, Liora; Pras, Elon; Frydman, Moshe; Reish, Orit; Avni, Isaac; Pras, Eran

    2008-01-01

    Purpose To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. Methods Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. Results Embryonal cataracts cosegregated through three generations with a balanced chromosomal translocation [t(3;5)(p22.3; p15.1)] while the unbalanced translocation product, 46,XY,-5,+der(5)t(3...

  9. Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;q11)

    OpenAIRE

    Dockery, Heather E; Neale, H C; Fitzgerald, P H

    1982-01-01

    Gross mental and physical abnormality is described in an adult female who had some features similar to those of Ehlers-Danlos syndrome. There was no family history of the disorder. The patient also carried a balanced chromosomal translocation t(9;17)(q34;q11).

  10. Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.

    Science.gov (United States)

    Labelle, Y; Zucman, J; Stenman, G; Kindblom, L G; Knight, J; Turc-Carel, C; Dockhorn-Dworniczak, B; Mandahl, N; Desmaze, C; Peter, M

    1995-12-01

    A recurrent t(9;22) (q22;q12) chromosome translocation has been described in extraskeletal myxoid chondrosarcoma (EMC). Fluorescent in situ hybridization experiments performed on one EMC tumour indicated that the chromosome 22 breakpoint occurred in the EWS gene. Northern blot analysis revealed an aberrant EWS transcript which is cloned by a modified RT-PCR procedure. This transcript consists of an in-frame fusion of the 5' end of EWS to a previously unidentified gene, which was named TEC. This fusion transcript was detected in six of eight EMC studied, and three different junction types between the two genes were found. In all junction types, the putative translation product contained the amino-terminal transactivation domain of EWS linked to the entire TEC protein. Homology analysis showed that the predicted TEC protein contains a DNA-binding domain characteristic of nuclear receptors. The highest identity scores were observed with the NURR1 family of orphan nuclear receptors. These receptors are involved in the control of cell proliferation and differentiation by modulating the response to growth factors and retinoic acid. This work provides, after the PML/RAR alpha gene fusion, the second example of the oncogenic conversion of a nuclear receptor and the first example involving the orphan subfamily. Analysis of the disturbance induced by the EWS/TEc protein in the nuclear receptor network and their target genes may lead to new approaches for EMC treatment. PMID:8634690

  11. Abnormal pregnancy of balanced chromosomal translocation carriers%染色体平衡易位与异常孕产

    Institute of Scientific and Technical Information of China (English)

    李忻; 杨鑫; 张韫; 靳耀英

    2011-01-01

    目的 探讨染色体平衡易位与异常孕产的关系.方法 用常规方法制备外用血淋巴细胞染色体标本,对有异常孕产史的夫妇进行染色体G显带核型分析.结果 检出染色体平衡易位携带者15例中,女12例,男3例.平衡携带者表型及智力均无明显异常.结论 染色体平衡易位携带者妊娠结局以孕早期流产为主,染色体平衡易位是造成临床流产、死胎、生育畸形儿的重要原因之一.对平衡易位携带者再次妊娠时必须做产前诊断,控制不良遗传因素个体的出生.%Objective;To investigate the relationship between balanced chromosomal translocation and abnormal pregnancy. Methods: Chromosomal karyotypes were examined in married couples with a history of abnormal pregnancy by periphery blood lymphocyte culture and carried out C banding. Results;We detected IS cases with balanced chromosomal translocation, 12 cases were female and 3 cases were male. Phenotype and intelligence in the carriers of balanced chromosomal translocation were not significantly abnormal. Conclusion: Spontaneous abortion in the first trimester is the main mode of abnormal pregnancy in the carriers of balanced chromosomal translocation, there is a close relationship between balanced translocations and spontaneous abortions. Cvtogenetic deception is necessary for carriers and their families in fundamental hospital, it can be helpful for prenatal diagnosis and eugenic.

  12. First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

    Directory of Open Access Journals (Sweden)

    Alexandre Rouen

    2014-01-01

    Full Text Available Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC. We therefore started offering intrauterine inseminations with this procedure to couples with a male translocation carriers. Case Presentation. We report the case of a 37-year-old man carrying a t(3;10(q25;p13 reciprocal translocation. He and his partner had had trouble conceiving for ten years and had four spontaneous abortions. DGC in this patient decreased the proportion of unbalanced spermatozoa from 63.6% to 52.3%. They were therefore offered intrauterine insemination with DGC, which eventually led to the birth of a healthy female child carrying the paternal translocation. Conclusion. We showed that translocation carriers could be offered intrauterine inseminations with DGC. Before this, the only two options were natural conception with prenatal diagnosis and termination of chromosomally unbalanced fetuses or preimplantation genetic diagnosis, which is a much heavier and costly procedure. We are currently offering this option through a multicentric program in France, and this is the first birth originating from it.

  13. First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier.

    Science.gov (United States)

    Rouen, Alexandre; Hyon, Capucine; Balet, Richard; Joyé, Nicole; Cassuto, Nino Guy; Siffroi, Jean-Pierre

    2014-01-01

    Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC). We therefore started offering intrauterine inseminations with this procedure to couples with a male translocation carriers. Case Presentation. We report the case of a 37-year-old man carrying a t(3;10)(q25;p13) reciprocal translocation. He and his partner had had trouble conceiving for ten years and had four spontaneous abortions. DGC in this patient decreased the proportion of unbalanced spermatozoa from 63.6% to 52.3%. They were therefore offered intrauterine insemination with DGC, which eventually led to the birth of a healthy female child carrying the paternal translocation. Conclusion. We showed that translocation carriers could be offered intrauterine inseminations with DGC. Before this, the only two options were natural conception with prenatal diagnosis and termination of chromosomally unbalanced fetuses or preimplantation genetic diagnosis, which is a much heavier and costly procedure. We are currently offering this option through a multicentric program in France, and this is the first birth originating from it. PMID:24587925

  14. Haploinsufficiency of activation-induced deaminase for antibody diversification and chromosome translocations both in vitro and in vivo.

    Directory of Open Access Journals (Sweden)

    Isora V Sernández

    Full Text Available The humoral immune response critically relies on the secondary diversification of antibodies. This diversification takes places through somatic remodelling of the antibody genes by two molecular mechanisms, Class Switch Recombination (CSR and Somatic Hypermutation (SHM. The enzyme Activation Induced Cytidine Deaminase (AID initiates both SHM and CSR by deaminating cytosine residues on the DNA of immunoglobulin genes. While crucial for immunity, AID-catalysed deamination is also the triggering event for the generation of lymphomagenic chromosome translocations. To address whether restricting the levels of AID expression in vivo contributes to the regulation of its function, we analysed mice harbouring a single copy of the AID gene (AID(+/-. AID(+/- mice express roughly 50% of normal AID levels, and display a mild hyperplasia, reminiscent of AID deficient mice and humans. Moreover, we found that AID(+/- cells have an impaired competence for CSR and SHM, which indicates that AID gene dose is limiting for its physiologic function. We next evaluated the impact of AID reduction in AID(+/- mice on the generation of chromosome translocations. Our results show that the frequency of AID-promoted c-myc/IgH translocations is reduced in AID(+/- mice, both in vivo and in vitro. Therefore, AID is haploinsufficient for antibody diversification and chromosome translocations. These findings suggest that limiting the physiologic levels of AID expression can be a regulatory mechanism that ensures an optimal balance between immune proficiency and genome integrity.

  15. Molecular localization of the t(11;22)(q24;q12) translocation of Ewing sarcoma by chromosomal in situ suppression hybridization

    International Nuclear Information System (INIS)

    Chromosome translocations are associated with a variety of human leukemias, lymphomas, and solid tumors. To localize molecular markers flanking the t(11;22)(q24;q12) breakpoint that occurs in virtually all cases of Ewing sarcoma and peripheral neuroepithelioma, high-resolution chromosomal in situ suppression hybridization was carried out using a panel of cosmid clones localized and ordered on chromosome 11q. The location of the Ewing sarcoma translocation breakpoint was determined relative to the nearest two cosmid markers on 11q, clones 23.2 and 5.8, through the analysis of metaphase chromosome hybridization. By in situ hybridization to interphase nuclei, the approximate physical separation of these two markers was determined. In both Ewing sarcoma and peripheral neuroepithelioma, cosmid clone 5.8 is translocated from chromosome 11q24 to the derivative chromosome 22 and a portion of chromosome 22q12 carrying the leukemia inhibitory factor gene is translocated to the derivative chromosome 11. The physical distance between the flanking cosmid markers on chromosome 11 was determined to be in the range of 1,000 kilobases, and genomic analysis using pulsed-field gel electrophoresis showed no abnormalities over a region of 650 kilobases in the vicinity of the leukemia inhibitory factor gene on chromosome 22. This approach localizes the Ewing sarcoma breakpoint to a small region on chromosome 11q24 and provides a rapid and precise technique for the molecular characterization of chromosomal aberrations

  16. Analysis of chromosome translocation in the residents of Namie Town after the accident of Fukushima Daiichi Nuclear Power Plant

    International Nuclear Information System (INIS)

    The dose estimation by behavior survey of the residents carried out by Fukushima Prefecture after the accident reported that there are no residents who were exposed by over 1 mSv radiation. However, a lot of the parents are worrying about the health condition of their children in future. Our Hirosaki University accepted the request of the local government of this Namie-Town in Fukushima which wants to know whether children were exposed by radiological substances or not and started the inspection about the contamination and exposure level and dose estimation at an accident using chromosomal translocation analysis for 855 out of 3700 children whose age was under 18 years old at the time of accident. In order to estimate radiation dose using chromosome aberration in the accidents, there are four kinds of cytogenetic method; dicentric assay, a translocation assay, the PCC-ring assay and micronucleus test. A dicentric assay is used for the dose estimation in acute and external exposure cases, the chromosomal translocation method for dose assessment in chronic and old exposure and the PCC method for high dose exposure, respectively. In the case of the residents in Namie-Town, since about one year and ten months had already passed after the accident when implementation of this inspection was determined, the chromosomal translocation method was applied for the dose estimation of the initial exposure level. The main purpose of this translocation analysis using their own cells is to take away affairs of the residents including parents and children and also to reduce the uneasiness which is not wiped away by the health check due to a behavioral survey. In this inspection, after the contents and process of this analysis were explained in the Tsushima, Namie-Town temporarily constructed clinic, 3∼4 ml of whole 5 blood were taken from each children whose parents agreed with this analysis. The lymphocytic cells are isolated from the whole blood using CPT (Cell Preparation Tube

  17. Identification of a human transcription unit affected by the variant chromosomal translocations 2; 8 and 8; 22 of Burkitt lymphoma

    Energy Technology Data Exchange (ETDEWEB)

    Shtivelman, E.; Henglein, B.; Groitl, P.; Lipp, M.; Bishop, J.M. (Univ. of California, San Francisco (USA))

    1989-05-01

    Chromosomal translocations in Burkitt lymphoma and mouse plasmacytomas typically lie within or near the protooncogene MYC. In some instances, however, these tumors contain variant translocations with breakpoints located more distant from and downstream of MYC, in a domain commonly known as pvt-1. Until now, there has been no evidence that pvt-1 marks the location of a functional gene. Here the authors report the identification of a large transcriptional unit in human DNA that includes pvt-1. The authors have designated this unit as PVT. PVT begins 57 kilobase pairs downstream of MYC and occupies a minimum of 200 kilobase pairs of DNA. Some of the translocations that occur downstream of MYC in Burkitt lymphoma transect PVT; others lie between the two genes. None of the translocations they have studied appear to enhance transcription from an intact allele of PVT (indeed, they may inactivate that transcription), but some are associated with the production of abundant and anomalous 0.8- to 1.0-kilobase RNAs that contain the 5{prime} exon of PVT and sequences transcribed from the constant region of an immunoglobulin gene (the reciprocal participant in the translocation). Identification of PVT should facilitate the exploration of how translocations downstream of MYC and insertions of retroviral DNA in the vicinity of pvt-1 might contribute to tumorigenesis.

  18. Over half of breakpoints in gene pairs involved in cancer-specific recurrent translocations are mapped to human chromosomal fragile sites

    Directory of Open Access Journals (Sweden)

    Pierce Levi CT

    2009-01-01

    Full Text Available Abstract Background Gene rearrangements such as chromosomal translocations have been shown to contribute to cancer development. Human chromosomal fragile sites are regions of the genome especially prone to breakage, and have been implicated in various chromosome abnormalities found in cancer. However, there has been no comprehensive and quantitative examination of the location of fragile sites in relation to all chromosomal aberrations. Results Using up-to-date databases containing all cancer-specific recurrent translocations, we have examined 444 unique pairs of genes involved in these translocations to determine the correlation of translocation breakpoints and fragile sites in the gene pairs. We found that over half (52% of translocation breakpoints in at least one gene of these gene pairs are mapped to fragile sites. Among these, we examined the DNA sequences within and flanking three randomly selected pairs of translocation-prone genes, and found that they exhibit characteristic features of fragile DNA, with frequent AT-rich flexibility islands and the potential of forming highly stable secondary structures. Conclusion Our study is the first to examine gene pairs involved in all recurrent chromosomal translocations observed in tumor cells, and to correlate the location of more than half of breakpoints to positions of known fragile sites. These results provide strong evidence to support a causative role for fragile sites in the generation of cancer-specific chromosomal rearrangements.

  19. Identification by R-banding and FISH of chromosome arms involved in Robertsonian translocations in several deer species

    OpenAIRE

    Bonnet-Garnier, Amelie; Claro, F.; Thevenon, S.; Gautier, Mathieu; Hayes, Hélène

    2003-01-01

    We constructed and analyzed the RBG-banded karyotype of ¢ve deer species: Chital (Axis axis), White-lipped deer (Cervus albirostris), Rusa deer (Cervus timorensis russa), Sambar deer (Cervus unicolor) and Eld’s deer (Cervus eldi siamensis). Among these ¢ve species, only Eld’s deer had been previously karyotyped using R-banding. In order to identify all the chromosome correspondences with cattle and precisely which chromosome arms are involved in Robertsonian translocations, we compared the ka...

  20. Over half of breakpoints in gene pairs involved in cancer-specific recurrent translocations are mapped to human chromosomal fragile sites

    OpenAIRE

    Pierce Levi CT; Williams Laura E; Burrow Allison A; Wang Yuh-Hwa

    2009-01-01

    Abstract Background Gene rearrangements such as chromosomal translocations have been shown to contribute to cancer development. Human chromosomal fragile sites are regions of the genome especially prone to breakage, and have been implicated in various chromosome abnormalities found in cancer. However, there has been no comprehensive and quantitative examination of the location of fragile sites in relation to all chromosomal aberrations. Results Using up-to-date databases containing all cancer...

  1. Xp11.2 translocation renal cell carcinoma occurring during pregnancy with a novel translocation involving chromosome 19: a case report with review of the literature

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    Surti Urvashi

    2009-05-01

    Full Text Available Abstract The recently recognized renal cell carcinomas (RCCs associated with Xp11.2 translocations (TFE3 transcription factor gene fusions are rare tumors predominantly reported in children. They comprise at least one-third of pediatric RCCs and only few adult cases have been reported. Here, we present a case of Xp11.2 translocation RCC in 26-year-old pregnant female. Her routine antenatal ultrasonography accidentally found a complex cystic right renal mass. Further radiologic studies revealed unilocular cyst with multiple mural nodules at inferior pole of right kidney, which was suspicious for RCC. She underwent right radical nephrectomy at 15 weeks gestation. Macroscopically, the cystic tumor was well encapsulated with multiple friable mural nodules on its inner surface. Microscopically, the tumor consisted of clear and eosinophilic/oncocytic voluminous cells arranged in papillary, trabecular, and nested/alveolar patterns. Occasional hyaline nodules and numerous psammoma bodies were present. Immunohistochemically, the tumor showed strong nuclear positivity for TFE3. Epithelial membrane antigen, CD10, and E-cadherin were strongly positive. Cytokeratin AE1/AE3, cytokeratin CAM-5.2, calveolin, and parvalbumin were moderately positive. Cytokeratin 7, renal cell carcinoma antigen, and colloidal iron were focally weakly positive. BerEP4 and carbonic anhydrase IX were negative. Cytogenetically, the tumor harbored a novel variant translocation involving chromosomes X and 19, t(X;19(p11.2;q13.1. Interphase FISH analysis performed on cultured and uncultured tumor cells using a dual-color break-apart DNA probe within the BCL3 gene on 19q13.3 was negative for the BCL3 gene rearrangement. She received no adjuvant therapy, delivered a normal term baby five months later, and is alive without evidence of disease 27 months after diagnosis and surgery. Unlike most recently reported Xp11.2 translocation RCCs in adult patients with aggressive clinical course

  2. Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family.

    Science.gov (United States)

    Pazarbasi, A; Demirhan, O; Alptekin, D; Ozgunen, Ft; Ozpak, L; Yilmaz, Mb; Nazlican, E; Tanriverdi, N; Luleyap, U; Gümürdülü, D

    2013-12-01

    The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling. PMID:24778571

  3. Identification of 2nd chromosome region translocated onto the W chromosome by RFLP with EST-cDNA clones in the Gensei-kouken strains of the mulberry silkworm, Bombyx mori L

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    Sivaramakurup Sreekumar

    2010-01-01

    Full Text Available In silkworms, sex-limited strains are either obtained spontaneously or induced by X-rays or gamma rays. When a fragment of an autosome carrying a dominant allele of those genes responsible for certain characters is translocated onto a W chromosome, the female of the successive generations will express these phenotypic characters and sex discrimination can be facilitated. Gensei-kouken strains are sex-limited strains of silkworms developed by irradiating the pupae with gamma rays, by which a portion of the second chromosome is translocated onto the W chromosome. In these improved strains, the females are yellow-blooded and spin yellow cocoons. By using the EST-cDNA clones mapped on the Z chromosome, we identified the sex according to the polymorphic banding pattern or intensity of the signals. Furthermore, by using the clones on the second chromosome, the region of the second chromosome translocated onto the W chromosome was also defined. In both the A95 and A 96 strains selected for the present study, only the mid-portion of the second chromosome was translocated. The differences in length of the fragments translocated in these strains are discussed.

  4. Characterization of Thinopyrum intermedium Alien Chromosomes and Their Translocations in Wheat Derivatives of Zhong 5 by Multicolor Fluorescence in situ Hybridization

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Z1, Z2, Z3, Z4, Z5 and Z6 are alien addition lines to wheat involving Thinopyrum intermedium chromosomes. We have characterized the Thinopyrum intermedium chromosomes or segments in these lines using multi-color florescence in situ hybridization. The probes used included total genomic DNA of Pseudoroegneria stipfolia (St) and cloned probes of highly tandem repetitive DNA pSc119. 2 and pAs1. Disomic addition lines Z1, Z2 and Z6 have the same single pair of alien chromo-somes carrying the resistant gene(s) to barley yellow dwarf virus (BYDV). This alien chromosome is a St/E translocation; within the long arm, there is a big insertion of an E-genome chromosomalsegment (30%). Disomic addition line Z3 carries one pair of St/E Robertsonian translocation chromosomes ; on the short arm (E) there is a nuclear organizer region, which expresses in some cells. In Z5, the added chromosome is one pair of translocated chromosomes. Chromosomes 2D, 3D and 3Stwere involved in the translocation with great possibility[2IS · 3DL (0. 47) - 3StL (0. 53)]. The St segment is responsible for resistance to leaf and stem rusts. Addition line Z4 also carries the translo cated chromosome found in Z5, but in addition carries one pair of 7AS (0. 64) - 7StS (0. 36) · 7StL translocation chromosomes. The 7St fragment bears the stripe rust resistance, and replaces the normal 7A. All of the translocations in Z1, Z2, Z6 and Z3 existed in one of their parents, the wheat Th. intermedium partial amphiploid, Zhong 5. The two wheat-Th. intermedium translocations in Z4 and Z5 occurred during the backcrossing of Zhong 5 to the other wheat varieties in the development of the addition lines. Spontaneous homoeologous translocations showed a close genome relationship between wheat and Th. intermedium. This paper also demonstrated the potential of highly repetitive sequences DNA in verification and characterization of translocation chromosomes.

  5. Characterization of Thinopyrum intermedium Alien Chromosomes and Their Translocations in Wheat Derivatives of Zhong 5 by Multicolor Fluorescence in situ Hybridization

    Institute of Scientific and Technical Information of China (English)

    Zhang Xueyong; Phillip M Banks; P.J. Larkin

    2000-01-01

    Z1, Z2, Z3, Z4, Z5 and Z6 are alien addition lines to wheat involving Thinopyrum intermedium chromosomes. We have characterized the Thinopyrum intermedium chromosomes or segments in these lines using multi-color florescence in situ hybridization. The probes used included total genomic DNA of Pseudoroegneria stipfolia (St) and cloned probes of highly tandem repetitive DNA pSc119. 2 and pAs1. Disomic addition lines Z1, Z2 and Z6 have the same single pair of alien chromo-somes carrying the resistant gene(s) to barley yellow dwarf virus (BYDV). This alien chromosome is a St/E translocation; within the long arm, there is a big insertion of an E-genome chromosomalsegment (30%). Disomic addition line Z3 carries one pair of St/E Robertsonian translocation chromosomes ; on the short arm (E) there is a nuclear organizer region, which expresses in some cells. In Z5, the added chromosome is one pair of translocated chromosomes. Chromosomes 2D, 3D and 3Stwere involved in the translocation with great possibility〔2IS · 3DL (0. 47) - 3StL (0. 53)〕. The St segment is responsible for resistance to leaf and stem rusts. Addition line Z4 also carries the translo cated chromosome found in Z5, but in addition carries one pair of 7AS (0. 64) - 7StS (0. 36) · 7StL translocation chromosomes. The 7St fragment bears the stripe rust resistance, and replaces the normal 7A. All of the translocations in Z1, Z2, Z6 and Z3 existed in one of their parents, the wheat Th. intermedium partial amphiploid, Zhong 5. The two wheat-Th. intermedium translocations in Z4 and Z5 occurred during the backcrossing of Zhong 5 to the other wheat varieties in the development of the addition lines. Spontaneous homoeologous translocations showed a close genome relationship between wheat and Th. intermedium. This paper also demonstrated the potential of highly repetitive sequences DNA in verification and characterization of translocation chromosomes.

  6. Familial chromosome translocation t(3;18)(p21;p11).

    OpenAIRE

    Buchinger, G; Wettstein, A; Metze, H

    1981-01-01

    A familial translocation t(3;18)(p21;p11) was observed in a newborn male. He had multiple malformations resulting from partial trisomy 3 and partial monosomy 18. The mother, maternal uncle, and maternal grandmother were found to be balanced translocation carriers. A daughter of the maternal uncle with similar malformations probably had the same unbalanced karyotype as the proband.

  7. Translocations used to generate chromosome segment duplications in Neurospora can disrupt genes and create novel open reading frames

    Indian Academy of Sciences (India)

    Parmit K Singh; Srividhya V Iyer; T Naga Sowjanya; B Kranthi Raj; Durgadas P Kasbekar

    2010-12-01

    In Neurospora crassa, crosses between normal sequence strains and strains bearing some translocations can yield progeny bearing a duplication (Dp) of the translocated chromosome segment. Here, 30 breakpoint junction sequences of 12 Dp-generating translocations were determined. The breakpoints disrupted 13 genes (including predicted genes), and created 10 novel open reading frames. Insertion of sequences from LG III into LG I as translocation T(UK818) disrupts the eat-3 gene, which is the ortholog of the Podospora anserine gene ami1. Since ami1-homozygous Podospora crosses were reported to increase the frequency of repeat-induced point mutation (RIP), we performed crosses homozygous for a deficiency in eat-3 to test for a corresponding increase in RIP frequency. However, our results suggested that, unlike in Podospora, the eat-3 gene might be essential for ascus development in Neurospora. Duplication–heterozygous crosses are generally barren in Neurospora; however, by using molecular probes developed in this study, we could identify Dp segregants from two different translocation–heterozygous crosses, and using these we found that the barren phenotype of at least some duplication–heterozygous crosses was incompletely penetrant.

  8. First-trimester combined screening is effective for the detection of unbalanced chromosomal translocations at 11 to 12 weeks of gestation.

    Science.gov (United States)

    Huang, Shangyu; Chang, Chialin; Cheng, Pojen; Hsiao, Chinghua; Soong, Yungkuei; Duan, Tao

    2014-05-01

    The first trimester combined screening, which analyzes fetal nuchal translucency and levels of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in maternal serum, is routinely used to detect abnormal pregnancies associated with Down syndrome and other trisomy aneuploidies. Based on the hypothesis that major chromosomal translocations could lead to similar biochemical and developmental outcomes during early embryo development, we compared these markers among pregnancies with normal, balanced, or unbalanced fetal karyotypes. Among the parents, 71 (73%) carry balanced reciprocal translocation and 26 (27%) have Robertsonian translocation. Of the 97 pregnancies tested, 39 (40%), 37 (37%), and 22 (23%) fetuses had normal karyotype, balanced chromosomal translocations, and unbalanced chromosomal translocations, respectively. Importantly, we found that pregnancies with an unbalanced translocation had significantly higher free β-hCG multiple of the median (MoM) and larger nuchal translucency thickness than those with normal karyotype or balanced translocations. Analysis showed that the area under a receiver operating characteristic curve (AUC) is 0.716, 0.820, and 0.936 for free β-hCG MoM, PAPP-A MoM, and fetal nuchal translucency, respectively. When these 3 independent factors were combined, the AUC reached 0.976. In addition, logistic regression showed that the most optimal model for predicting an unbalanced chromosomal translocation is a combination of PAPP-A and nuchal translucency with an AUC of 0.980. Therefore, the first trimester combined screening is not only effective in the screening of Down syndrome and other trisomy abnormalities but also has high sensitivity for the detection of unbalanced chromosomal translocations in fetuses. PMID:24177714

  9. Multiplex Reverse Transcription-Polymerase Chain Reaction for Simultaneous Screening of 29 Chromosomal Translocation in Hematologic Malignancies

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Multiplex reverse transcription-polymerase chain reaction (M-RT-PCR) has been proved to possess great clinical potential for simultaneous screening of 29 chromosomal translocations in acute leukemia. To evaluate the clinical value of M-RT-PCR in hematologic malignancies, bone marrow samples from 90 patients with various hematologic malignancies, including 25 acute myeloge nous leukemia (AML), 22 acute lymphoblastic leukemia (ALL), 27 chronic myelogenous leukemia (CML), 4 myeloproliferative diseases (MPD), 3 chronic lymphoblastic leukemia (CLL), 3 and 1 malignant histocytosis (MH) were subjected to both M-RT-PCR and chromosome karyotypic analysis. Some of cases were subjected to follow-up examination of M-RT-PCR during the period of ukemia. In our hand, 12 of 29chromosomal translocation transcripts including TEL/PDGFR, DEK/CAN, MLL/AF6, AML1/ETO,F9, BCR/ABL, MLL/MLL, PML/RARα, TLS/ERG, E2A/HLF, EVIl and HOXI1 were detected in 57 cases (63.3 %) of the 90 samples, which were in consistence with the results of karyore, M-RT-PCR had also shown good clinical relevance when used as an approach to detect minimal residual leukemia. We concluded that M-RT-PCR could be used as an effiy in the initial diagnosis of hematologic malignancies but also in subsequent monitor of minimal residual leukemia.

  10. Three-way complex variant translocation involving short arm chromosome (1;9;22)(p36;q34;q11) in a chronic myeloid leukemia patient

    Science.gov (United States)

    ASIF, MUHAMMAD; HUSSAIN, ABRAR; MALIK, ARIF; RASOOL, MAHMOOD

    2015-01-01

    Chronic myeloid leukemia (CML) is a disease of the clonal hematopoietic stem cells caused by a balanced translocation between the long arms of chromosomes 9 and 22. Overall, 90–95% of CML patients present with a Philadelphia (Ph) chromosome t(9;22)(q34;q11) translocation and in addition, variant complex translocations, involving a third chromosome, are observed in 5–8% of CML patients. Cytogenic testing using bone marrow sample was performed and the FISH test was used for the detection of BCR-ABL fusion gene and complete blood analysis of CML patient was also performed. Results of hematological analysis showed the induced values of white blood cells (168,5000/mm3) and platelets (300,000/mm3) and FISH analysis test showed that 98% cells were positive for BCR/ABL gene translocation. The present study describes a three-way (1;9;22)(p36;q34;q11) Ph chromosome translocation in a 24-year-old female with CML. The patient, who was in the chronic phase of the disease, was treated with daily dose of 400 mg/dl with imatinib mesylateand was monitored constantly at various intervals over a 6-month period. Many studies reported that certain CML patents with variant translocation responded poorly to imatinib. In the current case report, the CML patient exhibited a suboptimal response to imatinib, denoting a poor prognosis. PMID:26622740

  11. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

    Science.gov (United States)

    Ou, Zhishuo; Jarmuz, Małgorzata; Sparagana, Steven P; Michaud, Jacques; Décarie, Jean-Claude; Yatsenko, Svetlana A; Nowakowska, Beata; Furman, Patti; Shaw, Chad A; Shaffer, Lisa G; Lupski, James R; Chinault, A Craig; Cheung, Sau W; Stankiewicz, Paweł

    2006-09-01

    We report clinical findings and molecular cytogenetic analyses for two patients with translocations [t(14;17)(p12;p12) and t(15;17)(p12;p13.2)], in which the chromosome 17 breakpoints map at a large low-copy repeat (LCR) and a breakage-prone TRE-2 (USP6) oncogene, respectively. In family 1, a 6-year-old girl and her 5-year-old brother were diagnosed with mental retardation, short stature, dysmorphic features, and Charcot-Marie-Tooth disease type 1A (CMT1A). G-banding chromosome analysis showed a der(14)t(14;17)(p12;p12) in both siblings, inherited from their father, a carrier of the balanced translocation. Chromosome microarray and FISH analyses revealed that the PMP22 gene was duplicated. The chromosome 17 breakpoint was mapped within an approximately 383 kb LCR17pA that is known to also be the site of several breakpoints of different chromosome aberrations including the evolutionary translocation t(4;19) in Gorilla gorilla. In family two, a patient with developmental delay, subtle dysmorphic features, ventricular enlargement with decreased periventricular white matter, mild findings of bilateral perisylvian polymicrogyria and a very small anterior commissure, a cryptic duplication including the Miller-Dieker syndrome region was identified by chromosome microarray analysis. The chromosome 17 breakpoint was mapped by FISH at the TRE-2 oncogene. Both partner chromosome breakpoints were mapped on the short arm acrocentric heterochromatin within or distal to the rRNA cluster, distal to the region commonly rearranged in Robertsonian translocations. We propose that TRE-2 together with LCR17pA, located approximately 10 Mb apart, also generated the evolutionary gorilla translocation t(4;19). Our results support previous observations that the USP6 oncogene, LCRs, and repetitive DNA sequences play a significant role in the origin of constitutional chromosome aberrations and primate genome evolution.

  12. Extra skeletal Soft Tissue Ewing’s Sarcoma with Variant Translocation of Chromosome t (4; 22) (q35; q12)-A Case Report

    Science.gov (United States)

    Nagaraj, Prashanth; H, Srinivas C; Rao, Raghavendra; Manohar, Sandesh

    2013-01-01

    Introduction: Ewing’s sarcomas is a rare primitive neuroectodermal tumour (PNET) which has an annual incidence of 2.9 /million population in USA 1Jeffery Toretsky et al (2008) They are very uncommon in African and Asian population. It is commonly associated with reciprocal translocation between chromosome 11 and 12 t (11:12) or less frequently the t(21;22)(q22;ql 2) translocation. It is highly aggressive tumor which is PAS- and CD99 (MIC2)-positive relatively few variant translocations have been reported in primary Ewing’s sarcomas (ES). Case Report: We are hereby presenting a case of extra skeletal soft tissue Ewing’s sarcoma with unusual translocation of chromosome t (4, 22) (q35, q12). Patient presented to us in advanced stage with pulmonary metastasis and lower limb neurological deficit. Relatively few variant translocations have been reported in primary Ewing’s sarcomas (ES). To date, 13 variants of the EWS fusion gene have been described in literature. They are extremely rare, representing altogether < 1% of the cases’ 23we are reporting a case of a variant simple translocation of chromosome t (4; 22) (q35;1 2). In our exhaustive literature search we could find only one case of complex translocation which was identified in a dysmorphic 15-year-old girl, t (4:11; 22)(q21; q24; q12) reported by Squire Jet al (1993). Conclusion: This type of translocation is extremely rare and has not been reported in the literature so far. Clinical presentation was initial indolent but later at the time patient presented to our institute he had developed pulmonary metastases and paraplegia due to involvement of spine. Our case report will provide new insight about rare translocation types in Ewing’s sarcoma and understand their clinical behavior of Ewing’s sarcoma with such type of translocation. PMID:27298923

  13. Different regions of the immunoglobulin heavy-chain locus are involved in chromosomal translocations in distinct pathogenic forms of Burkitt lymphoma

    Energy Technology Data Exchange (ETDEWEB)

    Neri, A.; Barriga, F.; Knowles, D.M.; Magrath, I.T.; Dalla-Favera, R.

    1988-04-01

    The authors show that endemic (eBL), sporadic (sBL), and acquired immunodeficiency syndrome-associated (AIDS-BL) forms of Burkitt lymphoma (BL) carrying t(8; 14) chromosomal translocations display different breakpoints within the immunoglobulin heavy-chain locus (IGH) on chromosome 14. In sBL (7 out of 11) and AIDS-BL (5 out of 6), the breakpoints occurred within or near the IGH ..mu.. switch (S/sub mu/) region on chromosome 14 and within the c-myc locus (MYC) on chromosome 8. In most eBL (13 out of 16) the breakpoints were mapped within or 5' to the IGH joining J/sub H/ region on chromosome 14 and outside the MYC locus on chromosome 8. Cloning and sequencing of the (8; 14) chromosomal junctions from two eBL cell lines and one eBL biopsy sample show that the recombination do not involve IGH-specific recombination signals on chromosome 14 or homologous sequences on chromosome 8, suggesting that these events are not likely to be mediated by the same mechanisms or enzymes as in IGH rearrangements. In general, these data have implications for the timing of occurrence of chromosomal translocations during B-cell differentiation in different BL types.

  14. Effects of a Balanced Translocation between Chromosomes 1 and 11 Disrupting the DISC1 Locus on White Matter Integrity.

    Directory of Open Access Journals (Sweden)

    Heather C Whalley

    Full Text Available Individuals carrying rare, but biologically informative genetic variants provide a unique opportunity to model major mental illness and inform understanding of disease mechanisms. The rarity of such variations means that their study involves small group numbers, however they are amongst the strongest known genetic risk factors for major mental illness and are likely to have large neural effects. DISC1 (Disrupted in Schizophrenia 1 is a gene containing one such risk variant, identified in a single Scottish family through its disruption by a balanced translocation of chromosomes 1 and 11; t(1;11 (q42.1;q14.3.Within the original pedigree, we examined the effects of the t(1;11 translocation on white matter integrity, measured by fractional anisotropy (FA. This included family members with (n = 7 and without (n = 13 the translocation, along with a clinical control sample of patients with psychosis (n = 34, and a group of healthy controls (n = 33.We report decreased white matter integrity in five clusters in the genu of the corpus callosum, the right inferior fronto-occipital fasciculus, acoustic radiation and fornix. Analysis of the mixed psychosis group also demonstrated decreased white matter integrity in the above regions. FA values within the corpus callosum correlated significantly with positive psychotic symptom severity.We demonstrate that the t(1;11 translocation is associated with reduced white matter integrity in frontal commissural and association fibre tracts. These findings overlap with those shown in affected patients with psychosis and in DISC1 animal models and highlight the value of rare but biologically informative mutations in modeling psychosis.

  15. Chondromyxoid fibroma of rib with a novel chromosomal translocation: a report of four additional cases at unusual sites

    Directory of Open Access Journals (Sweden)

    Parwani Anil V

    2007-11-01

    Full Text Available Abstract Background Chondromyxoid fibromas (CMFs are rare benign chondroid/myxoid matrix-producing tumors that occur in metaphyses of long tubular bones, and very rarely in small bones of hands and feet. Flat bone involvement is even more uncommon. Prior cytogenetic analyses have identified complex abnormalities involving chromosome 6 in the majority of cases. Methods A search for CMF over an 8-year period (1999–2006 from the surgical pathology files of our institution yielded 16 cases. Four cases occurred in relatively unusual regions, three from the small bones of distal extremities and one from the rib. The rib lesion wassubmitted forroutinecytogenetic analysis. Results Radiographic studies revealed that all four lesions were well-defined expansile radiolucent lesions which expanded the bony cortices with lobulated margins, sclerotic rim, septation, and no calcification. Morphologically, all four lesions showed typical features of CMF and had low proliferative index with Ki-67. Cytogenetic analysis on the rib lesion revealed a novel chromosomal translocation, t(1;5(p13;p13. None of the four patients had a recurrence after a mean duration of follow-up of 24 months. Conclusion CMF originating in unusual locations should be distinguished from chondrosarcomas, especially on small biopsies, and should be included in the differential diagnosis. As previously noted in the literature, the cells can be positive for actin but unlike conventional chondroid neoplasms can be negative for S-100. To our knowledge, this is the first report describing a novel chromosomal translocation, t(1;5(p13;p13 in CMF.

  16. Cytogenetic and molecular identification of small-segment chromosome translocation lines from wheat-rye substitution lines to create wheat germplasm with beneficial traits

    OpenAIRE

    Song, Wei-Fu; Ding, Hai-Yan; Zhang, Xiao-Mei; Li, Ji-Lin; Xiao, Zhi-Min; Xin, Wen-Li; Song, Qing-Jie; Zhao, Hai-Bin; Zhang, Yan-bin; Zhang, Chun-Li

    2014-01-01

    ABSTRACT Intergeneric crop plant hybrid lines with small-segment chromosome translocations are very useful in plant genetic research and breeding. In this study, to create small-segment chromosome translocations with beneficial agronomic characters, the progeny of wheat-rye substitution lines 5R/5A and 6R/6A were selected from generations F2 to F5 for rye-specific characteristics. A PCR primer and specific simple sequence repeat marker for rye were used in F5 populations to detect rye chromat...

  17. Novel Integrated Lab-on-Chip System for Chromosome Translocations Analysis

    DEFF Research Database (Denmark)

    Svendsen, Winnie Edith; Lange, Jacob Moresco; Shah, Pranjul Jaykumar;

    2009-01-01

    This presentation will focus on the development of a chromosome total analysis system (C-TAS) starting from the design strategy and simulations to the integration into a final monolithic plug and play device. Individual modules which perform the sample preprocessing and analysis tasks like - cell...... isolation, cell culture, cell lysing, chromosome extraction and Fluorescence In-Situ Hybridization will be presented. How we solved connecting the individual chips and adjusting the microfluidic flows, by using simulations will be discussed....

  18. Correlation between missed abortion and insertional translocation involving chromosomes 1 and 7

    OpenAIRE

    Ahmed Husseiny; Neveen Ashaat

    2012-01-01

    Background: Missed abortion (Silent miscarriage) is defined as intrauterine fetal death before twenty weeks gestation. One of the most common causes of early missed abortions (before 10 weeks gestation) is cytogenetic abnormalities. Objective: To asses if there is a correlation between chromosomal aberrations (especially in chromosome 7) and missed abortion among at least two generations. Materials and Methods: After exclusion of direct causes of missed abortion, this study included 60 women ...

  19. RAG-dependent recombination at cryptic RSSs within TEL–AML1 t(12;21)(p13;q22) chromosomal translocation region

    OpenAIRE

    Numata, Masashi; Saito, Shoko; Nagata, Kyosuke

    2010-01-01

    The recombination activating gene (RAG) is a lymphoid-specific endonuclease involved in the V(D)J recombination. It has long been proposed that mis-targeting of RAG proteins is one of the factors contributing to lymphoid chromosomal translocation bearing authentic recombination signal sequences (RSSs) in immunoglobulin (Ig) and T cell receptor (TCR) gene loci or cryptic RSSs (cRSSs). However, it is unclear whether primary sequence-dependent targeting mistake involved in the chromosomal transl...

  20. West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation

    OpenAIRE

    Ilknur Erol; Semra Saygi; Senay Demir; Fusun Alehan; Feride Iffet Sahin

    2015-01-01

    West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9) (p11.2;p22) and presenting with macrocephaly, West syndrome, severe mental motor retardation and h...

  1. 基因位置与肿瘤染色体易位的关系%Relationship between gene positioning and chromosomal translocation in cancer

    Institute of Scientific and Technical Information of China (English)

    郑杰; 洪泽辉

    2012-01-01

    Chromosomal translocations are very common in human cancer. The molecular mechanisms of chromosomal translocations are complex and unclear. Recent studies show that the organization of genomes is higher-order in the nucleus and every chromosome or chromatin has its preferential position and territory. Intermingling of chromosome territories in interphase maintains the transcriptional networks of genes. The spatial arrangements of chromosomes and gene loci in the interphase nucleus are responsible for nonrandom chromosomal translocations in human cancer. Chromosomal translocations are favored in neighbor chromosomes or genes in spatial proximity within the nucleus. These findings may lead to new approaches in early diagnosis and target therapy of cancer.%染色体易位在肿瘤中很常见,但其发生的分子机制复杂,目前尚未完全阐明.近年的研究显示,细胞核基因组的组织结构是高度有序的,每条染色体或染色质都有自己的位置和领地,它们相互交错,共同维持着基因转录网.肿瘤细胞染色体易位的非随机性被认为与间期核内染色体或基因的空间位置密切相关.染色体易位通常发生在核内邻近的染色体或空间位置接近的基因.这些发现对肿瘤的早期诊断和靶向治疗具有重要意义.

  2. A driving and coupling “Pac-Man” mechanism for chromosome poleward translocation in anaphase A

    OpenAIRE

    Liu, Jian; Onuchic, José N.

    2006-01-01

    During mitosis, chromatid harnesses its kinetochore translocation at the depolymerizing microtubule ends for its poleward movement in anaphase A. The force generation mechanism for such movement remains unknown. Analysis of the current experimental results shows that the bending energy release from the bound tubulin subunits alone cannot provide sufficient driving force. Additional contribution from effective electrostatic attractions between the kinetochore and the microtubule is needed for ...

  3. Correlation between missed abortion and insertional translocation involving chromosomes 1 and 7

    Directory of Open Access Journals (Sweden)

    Ahmed Husseiny

    2012-01-01

    Full Text Available Background: Missed abortion (Silent miscarriage is defined as intrauterine fetal death before twenty weeks gestation. One of the most common causes of early missed abortions (before 10 weeks gestation is cytogenetic abnormalities. Objective: To asses if there is a correlation between chromosomal aberrations (especially in chromosome 7 and missed abortion among at least two generations.Materials and Methods: After exclusion of direct causes of missed abortion, this study included 60 women (the study group who had first trimestric missed abortion and 30 healthy women who did not suffer from any diseases during their pregnancy and had apparently normal outcome (the control group. All cases were diagnosed; the blood and tissue samples were collected from the mothers and abortuses from the Department of Obstetrics and Gynecology, Maternity Hospital, Ain Shams University. Cytogenetic analyses were performed by using conventional technique and G/T banding techniques and Fluorescence In Situ Hybridization (FISH analysis with a whole chromosome 7 painting probe (WCP7 and a 7q subterminal probe (7q36, qter, prepared by chromosome micro dissection technique was used for confirming the specific chromosomal abnormality.

  4. Chronic Myeloid Leukemia with Variant Chromosomal Translocations: Results of Treatment with Imatinib Mesylate

    Directory of Open Access Journals (Sweden)

    Rohan Bhise

    2013-01-01

    Full Text Available Objective: To evaluate the efficacy of imatinib in chronic myeloid leukemia patients with variant translocations. Methods: Forty eight chronic myeloid leukemia patients carrying variant translocations and treated with imatinib at our institute were considered for the study. Survival and response rates were evaluated. Results: The median follow up was 48 months(m. Forty three (89.58% patients achieved complete hematologic response. Thirty one (64.58% patients achieved complete cytogenetic response and 19(39.58% achieved major molecular response anytime during their follow up period. Only 18.75% of the patients achieved complete cytogenetic response and major molecular response within the stipulated time frames.The estimated overall survival at 48 m median follow up was 81.2%.The progression free survival was also 81.2% and the event free survival was 79.1%.There was no significant survival difference between low vs intermediate and high risk sokal group. Conclusion: We report suboptimal responses to imatinib in chronic myeloid leukemia with variant translocations. Further studies with imatinib and the newer more active drugs dasatinib and nilotinib are justified.

  5. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

    DEFF Research Database (Denmark)

    Kalscheuer, Vera M; Musante, Luciana; Fang, Cheng;

    2009-01-01

    in a female patient presenting with a disturbed sleep-wake cycle, late-onset epileptic seizures, increased anxiety, aggressive behavior, and mental retardation, but not hyperekplexia. Fine mapping of the breakpoint indicates disruption of the collybistin gene (ARHGEF9) on chromosome Xq11, while the other...

  6. West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation

    Directory of Open Access Journals (Sweden)

    Ilknur Erol

    2015-01-01

    Full Text Available West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9 (p11.2;p22 and presenting with macrocephaly, West syndrome, severe mental motor retardation and hypotonia. As far as we know, this is a new chromosomal anomaly associated with West syndrome.

  7. A recurrent chromosome translocation breakpoint in breast and pancreatic cancer cell lines targets the neuregulin/NRG1 gene.

    Science.gov (United States)

    Adélaïde, José; Huang, Huai-En; Murati, Anne; Alsop, Amber E; Orsetti, Béatrice; Mozziconacci, Marie-Joëlle; Popovici, Cornel; Ginestier, Christophe; Letessier, Anne; Basset, Céline; Courtay-Cahen, Céline; Jacquemier, Jocelyne; Theillet, Charles; Birnbaum, Daniel; Edwards, Paul A W; Chaffanet, Max

    2003-08-01

    The 8p11-21 region is a frequent target of alterations in breast cancer and other carcinomas. We surveyed 34 breast tumor cell lines and 9 pancreatic cancer cell lines for alterations of this region by use of multicolor fluorescence in situ hybridization (M-FISH) and BAC-specific FISH. We describe a recurrent chromosome translocation breakpoint that targets the NRG1 gene on 8p12. NRG1 encodes growth factors of the neuregulin/heregulin-1 family that are ligands for tyrosine kinase receptors of the ERBB family. Breakpoints within the NRG1 gene were found in four of the breast tumor cell lines: ZR-75-1, in a dic(8;11); HCC1937, in a t(8;10)(p12;p12.1); SUM-52, in an hsr(8)(p12); UACC-812, in a t(3;8); and in two of the pancreatic cancer cell lines: PaTu I, in a der(8)t(4;8); and SUIT-2, in a del(8)(p). Mapping by two-color FISH showed that the breaks were scattered over 1.1 Mb within the NRG1 gene. It is already known that the MDA-MB-175 breast tumor cell line has a dic(8;11), with a breakpoint in NRG1 that fuses NRG1 to the DOC4 gene on 11q13. Thus, we have found a total of seven breakpoints, in two types of cancer cell lines, that target the NRG1 gene. This suggests that the NRG1 locus is a recurring target of translocations in carcinomas. PCR analysis of reverse-transcribed cell line RNAs revealed an extensive complexity of the NRG1 transcripts but failed to detect a consistent pattern of mRNA isoforms in the cell lines with NRG1 breakpoint. PMID:12800145

  8. Do Non-Genomically Encoded Fusion Transcripts Cause Recurrent Chromosomal Translocations?

    International Nuclear Information System (INIS)

    We among others have recently demonstrated that normal cells produce “fusion mRNAs”. These fusion mRNAs do not derive from rearranged genomic loci, but rather they are derived from “early-terminated transcripts” (ETTs). Premature transcriptional termination takes place in intronic sequences that belong to “breakpoint cluster regions”. One important property of ETTs is that they exhibit an unsaturated splice donor site. This results in: (1) splicing to “cryptic exons” present in the final intron; (2) Splicing to another transcript of the same gene (intragenic trans-splicing), resulting in “exon repetitions”; (3) splicing to a transcript of another gene (intergenic trans-splicing), leading to “non-genomically encoded fusion transcripts” (NGEFTs). These NGEFTs bear the potential risk to influence DNA repair processes, since they share identical nucleotides with their DNA of origin, and thus, could be used as “guidance RNA” for DNA repair processes. Here, we present experimental data about four other genes. Three of them are associated with hemato-malignancies (ETV6, NUP98 and RUNX1), while one is associated with solid tumors (EWSR1). Our results demonstrate that all genes investigated so far (MLL, AF4, AF9, ENL, ELL, ETV6, NUP98, RUNX1 and EWSR1) display ETTs and produce transpliced mRNA species, indicating that this is a genuine property of translocating genes

  9. Do Non-Genomically Encoded Fusion Transcripts Cause Recurrent Chromosomal Translocations?

    Energy Technology Data Exchange (ETDEWEB)

    Kowarz, Eric; Dingermann, Theo; Marschalek, Rolf, E-mail: Rolf.Marschalek@em.uni-frankfurt.de [Institute of Pharmaceutical Biology/ZAFES/DCAL, Goethe-University of Frankfurt, Biocenter, Max-von-Laue-Str. 9, D-60438 Frankfurt/Main (Germany)

    2012-10-18

    We among others have recently demonstrated that normal cells produce “fusion mRNAs”. These fusion mRNAs do not derive from rearranged genomic loci, but rather they are derived from “early-terminated transcripts” (ETTs). Premature transcriptional termination takes place in intronic sequences that belong to “breakpoint cluster regions”. One important property of ETTs is that they exhibit an unsaturated splice donor site. This results in: (1) splicing to “cryptic exons” present in the final intron; (2) Splicing to another transcript of the same gene (intragenic trans-splicing), resulting in “exon repetitions”; (3) splicing to a transcript of another gene (intergenic trans-splicing), leading to “non-genomically encoded fusion transcripts” (NGEFTs). These NGEFTs bear the potential risk to influence DNA repair processes, since they share identical nucleotides with their DNA of origin, and thus, could be used as “guidance RNA” for DNA repair processes. Here, we present experimental data about four other genes. Three of them are associated with hemato-malignancies (ETV6, NUP98 and RUNX1), while one is associated with solid tumors (EWSR1). Our results demonstrate that all genes investigated so far (MLL, AF4, AF9, ENL, ELL, ETV6, NUP98, RUNX1 and EWSR1) display ETTs and produce transpliced mRNA species, indicating that this is a genuine property of translocating genes.

  10. Deletion and translocation of chromosome 11q13 sequences in cervical carcinoma cell lines.

    Science.gov (United States)

    Jesudasan, R A; Rahman, R A; Chandrashekharappa, S; Evans, G A; Srivatsan, E S

    1995-03-01

    Molecular genetic studies on HeLa cell-derived nontumorigenic and tumorigenic hybrids have previously localized the HeLa cell tumor-suppressor gene to the long arm of chromosome 11. Extensive molecular and cytogenetic studies on HeLa cells have shown chromosome band 11q13 to be rearranged in this cell line. To determine whether q13 rearrangement is a nonrandom event in cervical carcinomas, six different human papilloma virus (HPV)-positive (HeLa, SiHa, Caski, C4-I, Me180, and Ms751) and two different HPV-negative (C33A and HT3) cell lines were studied. Long-range restriction mapping using a number of q13-specific probes showed molecular rearrangements within 75 kb of INT2 probe in three HPV-positive cell lines (HeLa, SiHa, and Caski) and in an HPV-negative cell line (HT3). FISH using an INT2 YAC identified a breakpoint within the sequences spanned by this YAC in two of the cell lines, HeLa and Caski. INT2 cosmid derived from this YAC showed deletion of cosmid sequences in two other cell lines, SiHa and C33A. These two cell lines, however, retained cosmid sequences of Cyclin D1, a probe localized 100 kb proximal to INT2. Deletions being the hallmark of a tumor-suppressor gene, we conclude that the 100-kb interval between the two cosmids might contain sequences of the cervical carcinoma tumor-suppressor gene. PMID:7887426

  11. Deletion and translocation of chromosome 11q13 sequences in cervical carcinoma cell lines

    Energy Technology Data Exchange (ETDEWEB)

    Jesudasan, R.A.; Srivatsan, E.S. [UCLA School of Medicine, CA (United States); Rahman, R.A. [Clinical Genetics Center, La Mirada, CA (United States); Chandrashekharappa, S. [National Center for Human Genome Research, Bethesda, MD (United States); Evans, G.A. [Univ. of Texas Southwestern Medical Center, Dallas, TX (United States)

    1995-03-01

    Molecular genetic studies on HeLa cell-derived nontumorigenic and tumorigenic hybrids have previously localized the HeLa cell tumor-suppressor gene to the long arm of chromosome 11. Extensive molecular and cytogenetic studies on HeLa cells have shown chromosome band 11q13 to be rearranged in this cell line. To determine whether q13 rearrangement is a nonrandom event in cervical carcinomas, six different human papilloma virus (HPV)-positive (HeLa, SiHa, Caski, C4-I, Me180, and Ms751) and two different HPV-negative (C33A and HT3) cell lines were studied. Long-range restriction mapping using a number of q13-specific probes showed molecular arrangements within 75 kb of INT2 probe in three HPV-positive cell lines (HeLa, SiHa, and Caski) and in an HPV-negative cell line (HT3). FISH using an INT2 YAC identified a breakpoint within the sequences spanned by this YAC in two of the cell lines, HeLa and Caski. INT2 cosmid derived from this YAC showed deletion of cosmid sequences in two other cell lines, SiHa and C33A. These two cell lines, however, retained cosmid sequences of Cyclin D1, a probe localized 100 kb proximal to INT2. Deletions being the hallmark of a tumor-suppressor gene, we conclude that the 100-kb interval between the two cosmids might contain sequences of the cervical carcinoma tumor-suppressor gene. 28 refs., 9 figs.

  12. First-Trimester Combined Screening Is Effective for the Detection of Unbalanced Chromosomal Translocations at 11 to 12 Weeks of Gestation

    OpenAIRE

    Huang, ShangYu; Chang, Chialin; Cheng, PoJen; Hsiao, ChingHua; Soong, YungKuei; Duan, Tao

    2014-01-01

    The first trimester combined screening, which analyzes fetal nuchal translucency and levels of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in maternal serum, is routinely used to detect abnormal pregnancies associated with Down syndrome and other trisomy aneuploidies. Based on the hypothesis that major chromosomal translocations could lead to similar biochemical and developmental outcomes during early embryo development, we compared these mar...

  13. Are submicroscopic chromosomal inversions predisposing factors for the t(9;22)(q34;q11.2) translocation in chronic myeloid leukemia?

    OpenAIRE

    González García, Juan Ramón; Cruz, Martín Daniel Domínguez; Gutiérrez, César Borjas

    2015-01-01

    A complex chromosomal rearrangement observed in a patient with chronic myeloid leukemia was explained as the consequence of a multistep process. The explanation involved an initial t(9;22) translocation with breakpoints distant from the BCR and ABL1 genes followed by genomic deletions that produced the BCR-ABL1 hybrid gene. We present an alternative model that fits the origin of the patient’s rearrangement better. The present model links submicroscopic inversions with the occurrence of the t(...

  14. DNA markers closely linked to nematode resistance genes in sugar beet (Beta vulgaris L.) mapped using chromosome additions and translocations originating from wild beets of the Procumbentes section.

    Science.gov (United States)

    Jung, C; Koch, R; Fischer, F; Brandes, A; Wricke, G; Herrmann, R G

    1992-03-01

    Genes conferring resistance to the beet cyst nematode (Heterodera schachtii Schm.) have been transferred to sugar beet (Beta vulgaris L.) from three wild species of the Procumbentes section using monosomic addition and translocation lines, because no meiotic recombination occurs between chromosomes of cultured and wild species. In the course of a project to isolate the nematode resistance genes by strategies of reverse genetics, probes were cloned from DNA of a fragmented B. procumbens chromosome carrying a resistance gene, which had been isolated by pulsed-field gel electrophoresis. One probe (pRK643) hybridized with a short dispersed repetitive DNA element, which was found only in wild beets, and thus may be used as a molecular marker for nematode resistance to progeneis of monosomic addition lines segregating resistant and susceptible individuals. Additional probes for the resistance gene region were obtained with a polymerase chain reaction (PCR)-based strategy using repetitive primers to amplify DNA located between repetitive elements. One of these probes established the existence of at least six different chromosomes from wild beet species, each conferring resistance independently of the others. A strict correlation between the length of the wild beet chromatin introduced in fragment addition and translocation lines and the repeat copy number has been used physically to map the region conferring resistance to a chromosome segment of 0.5-3 Mb.

  15. AID induces double-strand breaks at immunoglobulin switch regions and c-MYC causing chromosomal translocations in yeast THO mutants.

    Directory of Open Access Journals (Sweden)

    José F Ruiz

    2011-02-01

    Full Text Available Transcription of the switch (S regions of immunoglobulin genes in B cells generates stable R-loops that are targeted by Activation Induced Cytidine Deaminase (AID, triggering class switch recombination (CSR, as well as translocations with c-MYC responsible for Burkitt's lymphomas. In Saccharomyces cerevisiae, stable R-loops are formed co-transcriptionally in mutants of THO, a conserved nuclear complex involved in mRNP biogenesis. Such R-loops trigger genome instability and facilitate deamination by human AID. To understand the mechanisms that generate genome instability mediated by mRNP biogenesis impairment and by AID, we devised a yeast chromosomal system based on different segments of mammalian S regions and c-MYC for the analysis of chromosomal rearrangements in both wild-type and THO mutants. We demonstrate that AID acts in yeast at heterologous S and c-MYC transcribed sequences leading to double-strand breaks (DSBs which in turn cause chromosomal translocations via Non-Homologous End Joining (NHEJ. AID-induced translocations were strongly enhanced in yeast THO null mutants, consistent with the idea that AID-mediated DSBs depend on R-loop formation. Our study not only provides new clues to understand the role of mRNP biogenesis in preventing genome rearrangements and the mechanism of AID-mediated genome instability, but also shows that, once uracil residues are produced by AID-mediated deamination, these are processed into DSBs and chromosomal rearrangements by the general and conserved DNA repair functions present from yeast to human cells.

  16. Delineation of chromosome translocations by fluorescence in situ hybridization%用荧光原位杂交技术显示染色体易位

    Institute of Scientific and Technical Information of China (English)

    朱冠山; Barts.,O

    2000-01-01

    目的:应用荧光原位杂交技术(fl uorescence in situ hybridization,FISH)对G显带提示有染色体易位的病例进行分析 ,阐明易位本质.方法:以定位于待研究染色体区段的酵母人工染色体(yeast artificialchromosome,YAC)作为DNA来源,采用DOP-PCR(degenerate oligonucl eotide-primed,PCR)方法制备荧光标记的位点特异性探针,进行染色体原位杂交.结果:两例经G显带未能明确显示的染色体结构异常,经FISH证实,一例为发生于11号染色体与13号染色体之间的平衡易位;另一例为发生于6号染色体与X染色体之间的不平衡易位.结论:FISH技术以其高度的灵敏性及特异性,成为常规染色体显带技术的一个重要补充,特别适用于对微小染色体结构重排以及染色体片段起源的阐明.%Objective:To delineate the G-banding-sug gested chromosome translocations by fluorescence in situ hybridization (FISH ) technique. Methods: Locus-specific probes, generated by degen erate oligonucleotide-primed PCR (DOP-PCR) technique from yeast artificial chr omosomes (YACs) mapping the regions in question, were used for FISH tests. Results: Among the 2 cases unresolved by G-banding, FISH confirm ed that one had a balanced translocation between chromosome 11 and chromosome 13 , the other had an unbalanced translocation between chromosome 6 and chromosome X.Conclusion: Because of its high sensitivity and specificity, FISH technique is a powerful adjunct to chromosome banding techniques, particula rly for the delineation of subtle chromosome rearrangement(s) and the origin of segment(s).

  17. Ancestral Y-linked genes were maintained by translocation to the X and Y chromosomes fused to an autosomal pair in the Okinawa spiny rat Tokudaia muenninki.

    Science.gov (United States)

    Murata, Chie; Kuroki, Yoko; Imoto, Issei; Kuroiwa, Asato

    2016-09-01

    Two species of the genus Tokudaia lack the Y chromosome and SRY, but several Y-linked genes have been rescued by translocation or transposition to other chromosomes. Tokudaia muenninki is the only species in the genus that maintains the Y owing to sex chromosome-autosome fusions. According to previous studies, many SRY pseudocopies and other Y-linked genes have evolved by excess duplication in this species. Using RNA-seq and RT-PCR, we found that ZFY, EIF2S3Y, TSPY, UTY, DDX3Y, USP9Y, and RBMY, but not UBA1Y, had high deduced amino acid sequence similarity and similar expression patterns with other rodents, suggesting that these genes were functional. Based on FISH and quantitative real-time PCR, all of the genes except for UTY and DDX3Y were amplified on the X and Y chromosomes with approximately 10-66 copies in the male genome. In a comparative analysis of the 372.4-kb BAC sequence and Y-linked gene transcripts from T. muenninki with the mouse Y genomic sequence, we observed that multiple-copy genes in the ancestral Y genome were nonfunctional, indicating that the gene functions were assumed by amplified copies. We also found a LTR sequence at the distal end of a SRY duplication unit, suggesting that unequal sister chromatid exchange mediated by retrotransposable elements could have been involved in SRY amplification. Our results revealed that the Y-linked genes were rescued from degeneration via translocations to other sex chromosomal regions and amplification events in T. muenninki.

  18. A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: Altered L-serine level associated with disruption of PSAT1 gene expression

    OpenAIRE

    Ozeki, Yuji; Pickard, Benjamin S; Kano, Shin-ichi; Malloy, Mary P.; Zeledon, Mariela; SUN, DANIEL Q.; Fujii, Kumiko; Wakui, Keiko; Shirayama, Yukihiko; Fukushima, Yoshimitsu; Kunugi, Hiroshi; Hashimoto, Kenji; Muir, Walter J; Blackwood, Douglas H; Sawa, Akira

    2011-01-01

    L-Serine is required for the synthesis of glycine and D-serine, both of which are NMDA receptor coagonists. Although roles for D-serine and glycine have been suggested in schizophrenia, little is known about the role of the L-serine synthesizing cascade in schizophrenia or related psychiatric conditions. Here we report a patient with schizophrenia carrying a balanced chromosomal translocation with the breakpoints localized to 3q13.12 and 9q21.2. We examined this proband and her son with schiz...

  19. Mouse Af9 Is a Controller of Embryo Patterning, Like Mll, Whose Human Homologue Fuses with AF9 after Chromosomal Translocation in Leukemia

    OpenAIRE

    Collins, Emma C.; Appert, Alexandre; Ariza-McNaughton, Linda; Pannell, Richard; Yamada, Yoshihiro; Rabbitts, Terence H.

    2002-01-01

    Chromosomal translocation t(9;11)(p22;q23) in acute myeloid leukemia fuses the MLL and AF9 genes. We have inactivated the murine homologue of AF9 to elucidate its normal role. No effect on hematopoiesis was observed in mice with a null mutation of Af9. However, an Af9 null mutation caused perinatal lethality, and homozygous mice exhibited anomalies of the axial skeleton. Both the cervical and thoracic regions were affected by anterior homeotic transformation. Strikingly, mice lacking function...

  20. Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.

    Science.gov (United States)

    Sakazume, Satoru; Ohashi, Hirofumi; Sasaki, Yuki; Harada, Naoki; Nakanishi, Katsumi; Sato, Hidenori; Emi, Mitsuru; Endoh, Kazushi; Sohma, Ryoichi; Kido, Yasuhiro; Nagai, Toshiro; Kubota, Takeo

    2012-01-01

    X-chromosome inactivation (XCI) is an essential mechanism in females that compensates for the genome imbalance between females and males. It is known that XCI can spread into an autosome of patients with X;autosome translocations. The subject was a 5-year-old boy with Prader-Willi syndrome (PWS)-like features including hypotonia, hypo-genitalism, hypo-pigmentation, and developmental delay. G-banding, fluorescent in situ hybridization, BrdU-incorporated replication, human androgen receptor gene locus assay, SNP microarrays, ChIP-on-chip assay, bisulfite sequencing, and real-time RT-PCR were performed. Cytogenetic analyses revealed that the karyotype was 46,XY,der(X)t(X;15)(p21.1;q11.2),-15. In the derivative chromosome, the X and half of the chromosome 15 segments showed late replication. The X segment was maternal, and the chromosome 15 region was paternal, indicating its post-zygotic origin. The two chromosome 15s had a biparental origin. The DNA methylation level was relatively high in the region proximal from the breakpoint, and the level decreased toward the middle of the chromosome 15 region; however, scattered areas of hypermethylation were found in the distal region. The promoter regions of the imprinted SNRPN and the non-imprinted OCA2 genes were completely and half methylated, respectively. However, no methylation was found in the adjacent imprinted gene UBE3A, which contained a lower density of LINE1 repeats. Our findings suggest that XCI spread into the paternal chromosome 15 led to the aberrant hypermethylation of SNRPN and OCA2 and their decreased expression, which contributes to the PWS-like features and hypo-pigmentation of the patient. To our knowledge, this is the first chromosome-wide methylation study in which the DNA methylation level is demonstrated in an autosome subject to XCI.

  1. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

    DEFF Research Database (Denmark)

    Tzschach, Andreas; Bisgaard, Anne-Marie; Kirchhoff, Maria;

    2010-01-01

    and hypotonia. We also report on the results of breakpoint analysis by array painting in a mentally retarded patient with a balanced chromosome translocation 46,XY,t(10;13)(q22;p13)dn. The breakpoint in 10q22 was found to disrupt C10orf11, a brain-expressed gene in the common deleted interval of......Interstitial deletions of chromosome band 10q22 are rare. We report on the characterization of three overlapping de novo 10q22 deletions by high-resolution array comparative genomic hybridization in three unrelated patients. Patient 1 had a 7.9 Mb deletion in 10q21.3-q22.2 and suffered from severe...

  2. A disseminated alveolar rhabdomyosarcoma in a 9-year-old boy disclosed by chromosomal translocation (2;13) (q35;q14)

    Science.gov (United States)

    Brichard, B; Ninane, J; Gosseye, S; Verellen-Dumoulin, C; Vermylen, C; Rodhain, J; Cornu, G

    1991-01-01

    A 9-year-old boy presented with a small subcutaneous tumor of the trunk and diffuse bone marrow involvement. The first histological diagnosis given was undifferentiated malignancy possibly of neural crest origin and chemotherapy was started immediately using vincristine, cyclophosphamide, cisplatin, and teniposide (OPEC). Complete response was achieved after four courses of chemotherapy. Histological slides were then reviewed and the final diagnosis of alveolar rhabdomyosarcoma (RMS) was retained. Moreover, chromosome analysis of malignant cells in the bone marrow revealed a translocation involving chromosomes 2 and 13:t(2;13) (q35;q14). This specific karyotype finding has been recently reported in a few cases and could be specific for alveolar RMS. The patient had a relapse 7 months after diagnosis and died 4 months later. PMID:1742179

  3. Chromosome

    Science.gov (United States)

    Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA ... is the building block of the human body. Chromosomes also contain proteins that help DNA exist in ...

  4. Multiple translocation of the AVR-Pita effector gene among chromosomes of the rice blast fungus Magnaporthe oryzae and related species.

    Directory of Open Access Journals (Sweden)

    Izumi Chuma

    2011-07-01

    Full Text Available Magnaporthe oryzae is the causal agent of rice blast disease, a devastating problem worldwide. This fungus has caused breakdown of resistance conferred by newly developed commercial cultivars. To address how the rice blast fungus adapts itself to new resistance genes so quickly, we examined chromosomal locations of AVR-Pita, a subtelomeric gene family corresponding to the Pita resistance gene, in various isolates of M. oryzae (including wheat and millet pathogens and its related species. We found that AVR-Pita (AVR-Pita1 and AVR-Pita2 is highly variable in its genome location, occurring in chromosomes 1, 3, 4, 5, 6, 7, and supernumerary chromosomes, particularly in rice-infecting isolates. When expressed in M. oryzae, most of the AVR-Pita homologs could elicit Pita-mediated resistance, even those from non-rice isolates. AVR-Pita was flanked by a retrotransposon, which presumably contributed to its multiple translocation across the genome. On the other hand, family member AVR-Pita3, which lacks avirulence activity, was stably located on chromosome 7 in a vast majority of isolates. These results suggest that the diversification in genome location of AVR-Pita in the rice isolates is a consequence of recognition by Pita in rice. We propose a model that the multiple translocation of AVR-Pita may be associated with its frequent loss and recovery mediated by its transfer among individuals in asexual populations. This model implies that the high mobility of AVR-Pita is a key mechanism accounting for the rapid adaptation toward Pita. Dynamic adaptation of some fungal plant pathogens may be achieved by deletion and recovery of avirulence genes using a population as a unit of adaptation.

  5. Comparison of BAC FISH with specific telomeres and centromere probes and chromosome painting on detection of chromosome translocation induced by irradiation%BAC FISH与PAINT法检测辐射诱发染色体易位的比较

    Institute of Scientific and Technical Information of China (English)

    刘青杰; 陆雪; 封江彬; 王晓维; 陈德清

    2008-01-01

    Objective To compare the efficiency of BAC FISH established in our lab and conventional chromosome painting(PAINT)on detection of radiation-induced chromosome translocation.Methods Healthy human peripheral blood samples were irradiated with 0~5.0 Gy 60Co γ-rays.Then chromosome translocations in these samples were detected with BAC FISH and PAINT using chromosomes 1.2 and 4.The genome translocation rates were calculated with observed chromosome translocation rates,and the dose-response curve of two methods were established.Results The genome translocation rates induced by 0~5.0 Gy 60Co γ-rays detected by BAC FISH and PAINT were increased with absorbed doses.The observed translocation rates with BAC FISH were higher than that with PAINT at each dose level.The dose-response curve were Y=0.043 D2+0.0008D+0.0048 for BAC FISH and Y=0.043D2+0.006D+0.0027 for PAINT.Conclusions The translocation rate detected by BAC FISH was higher than that by PAINT,and the parameters β in dose-response curve equation were same by two methods.%目的 比较自行建立的BAC FISH方法和常规染色体涂染(PAINT)方法分析辐射诱发染色体易位有效性的不同.方法 对正常人外周血照射不同剂量(0~5.0 Gy)的60Co γ射线,用1、2和4号染色体特异性端粒和着丝粒探针BAC FISH及PAINT分析染色体易位,将观察到的染色体易位率换算为全基因组易位率,并建立两种方法分析辐射诱发的染色体易位率剂量-效应曲线.结果 用两种方法分析0~5.0 Gy 60Coγ射线诱发的全基因组易位率均随着吸收剂量的增加而增高;在相同的剂量点,BAC FISH染色体易位检出率高于PAINT方法.两种方法分析吸收剂量和全基因组易位率之间的剂量-效应曲线均为二次方程模式,分别为Y=0.043D2+0.0008D+0.0048(BAC FISH)和Y=0.043D2+0.006D+0.0027(PAINT).结论 自行建立的BAC FISH方法分析辐射诱发染色体易位检出率高于常规染色体涂染方法,两种方法建立的

  6. First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

    OpenAIRE

    Alexandre Rouen; Capucine Hyon; Richard Balet; Nicole Joyé; Nino Guy Cassuto; Jean-Pierre Siffroi

    2014-01-01

    Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC). We therefore started offering intrauterine inseminations with this proced...

  7. New Complex Chromosomal Translocation in Chronic Myeloid Leukaemia: t(9;18;22)(q34;p11;q11)

    OpenAIRE

    Abdeljabar El Andaloussi; Chrystele Bilhou-Nabera

    2007-01-01

    A Chronic myeloid leukaemia (CML) case with a new complex t(9;18;22)(q34;p11;q11) of a 29-year-old man is being reported. For the first time, this translocation has been characterized by karyotype complemented with fluorescence in situ hybridization (FISH). In CML, the complex and standard translocations have the same prognosis. The patient was treated with standard initial therapy based on hydroxyurea before he died due to heart failure four months later. Our finding indicates the importa...

  8. New Complex Chromosomal Translocation in Chronic Myeloid Leukaemia: t(9;18;22(q34;p11;q11

    Directory of Open Access Journals (Sweden)

    Abdeljabar El Andaloussi

    2007-01-01

    Full Text Available A Chronic myeloid leukaemia (CML case with a new complex t(9;18;22(q34;p11;q11 of a 29-year-old man is being reported. For the first time, this translocation has been characterized by karyotype complemented with fluorescence in situ hybridization (FISH. In CML, the complex and standard translocations have the same prognosis. The patient was treated with standard initial therapy based on hydroxyurea before he died due to heart failure four months later. Our finding indicates the importance of combined cytogenetic analysis for diagnosis and guidance of treatment in clinical diagnosis of CML.

  9. The Presence of Translocation [t(16;19(q24;q12x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation

    Directory of Open Access Journals (Sweden)

    Nilgun Tanriverdi

    2013-06-01

    Full Text Available Purpose: Mental retardation is a common handicap (2-3% of the general population with an unknown cause in more than 50% of mentally retarded patients. Important causes are chromosome abnormalities which are detectable in 4-28% of cases, depending on the patient selection and techniques used. Aim of the study was to determine possible association between atypic facial appearance, mental retardation and the translocation [t(16;19(q24;q12x2] between two copy of non homolog chromosomes. Materials and Methods: Chromosomal analysis of peripheral blood lymphocytes from the proband and her family were performed with standart protocols at the Cukurova University hospital in Turkey. Results: We assessed the second and third generation of the family in which the translocation between chromosomes 16 and 19 segregates: one of the three progenies with the karyotype 46,XY, t(16;19(q24;q12 was heterozygote for the translocation and presented normal phenotype. One of the three progenies with the karyotype 46,XY presented normal phenotype also and the third with the karyotype 46,XY [t(16;19(q24;q12x2] was the proband. The parents were consanguinous, heterozygote for the translocation, and presented normal phenotype. Conclusions: Atypialc facial appearance and mental retardation could be associated with the homozygote translocation. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling. [Cukurova Med J 2013; 38(3.000: 540-542

  10. Elucidation of intergenomic recombination and chromosome translocation: meiotic evidence from interspecific hybrids of Lilium through GISH analysis

    NARCIS (Netherlands)

    Xie, S.L.; Ramanna, M.S.; Visser, R.G.F.; Arens, P.; Tuyl, van J.M.

    2013-01-01

    Intergenomic exchange has been found to be a normal phenomenon in sexual polyploids. In order to distinguish whether such exchanges are derived from intergenomic recombination or translocation, 13 genotypes of an interspecific hybrid, which were previously used as parents to generate sexual polyploi

  11. Language Features in a Mother and Daughter of a Chromosome 7;13 Translocation Involving "FOXP2"

    Science.gov (United States)

    Tomblin, J. Bruce; O'Brien, Marlea; Shriberg, Lawrence D.; Williams, Charles; Murray, Jeff; Patil, Shivanand; Bjork, Jonathan; Anderson, Steve; Ballard, Kirrie

    2009-01-01

    Purpose: The aims of this study were (a) to locate the breakpoints of a balanced translocation (7;13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation within "FOXP2." Method: The breakpoint locations…

  12. Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).

    Science.gov (United States)

    Ko, Jung Min; Bae, Jun-Seok; Choi, Jin Sun; Miura, Kohji; Lee, Hye Ran; Kim, Ok-Hwa; Kim, Nayoung K D; Oh, Sun Kyung; Ozono, Keiichi; Lee, Choon-Ki; Choi, In Ho; Park, Woong-Yang; Cho, Tae-Joon

    2015-05-01

    Chromosomal translocation of 2q37.1 just distal to the NPPC gene coding for C-type natriuretic peptide (CNP) and subsequent overproduction of CNP have been reported to cause a skeletal overgrowth syndrome. Loeys-Dietz syndrome (LDS) is one of marfanoid overgrowth syndromes, of which subtype IV is caused by haploinsufficiency of transforming growth factor beta 2 (TGFB2). We report on a girl with clinical phenotypes of overgrowth syndrome, including long and slim body habitus, macrodactyly of the big toe, scoliosis, ankle valgus deformity, coxa valga, slipped capital femoral epiphysis, and aortic root dilatation. Karyotyping revealed a balanced chromosomal translocation between 1q41 and 2q37.1, and the breakpoints could be mapped by targeted resequencing analysis. On chromosome 2q37.1, the translocation took place 200,365 bp downstream of NPPC, and serum level of the amino terminal of CNP was elevated. The contralateral site of translocation on chromosome 1q41 disrupted TGFB2 gene, presumed to cause its haploinsufficiency. This case supports the concept that NPPC is overexpressed because of the loss of a specific negative regulatory control in the normal chromosomal location, and demonstrates the effectiveness of targeted resequencing in the mapping of breakpoints. PMID:25728306

  13. A t(3;8) chromosomal translocation associated with hepatitis B virus intergration involves the carboxypeptidase N locus.

    OpenAIRE

    Pineau, P.; Marchio, A; Terris, B; Mattei, M G; Tu, Z X; Tiollais, P; Dejean, A

    1996-01-01

    Integrated hepatitis B virus (HBV) DNA is found in the great majority of human hepatocellular carcinomas, suggesting that these viral integrations may be implicated in liver oncogenesis. Besides the insertional mutagenesis characterized in a few selected cases and the contribution of viral transactivators to cell transformation to malignancy, HBV has been shown to generate gross chromosomal rearrangements potentially involved in carcinogenesis. Here, we report a t(3;8) chromosomal translocati...

  14. Major translocations in genetic counselling

    Institute of Scientific and Technical Information of China (English)

    József Gábor Joó; Ákos Csaba; Zsanett Szigeti; Judit Nagy Oroszné; János Rigó jr

    2012-01-01

    Objective:To review major chromosome translocation, with special regard to the clinical differences between balanced and unbalanced, as well as de novo and inherited cases.Methods:The authors have included cases of major chromosome translocations detected during a20-year period.Among the28 cases,25 patients carried balanced and3 were affected by unbalanced translocations.Results:In cases of balanced translocation, maternal age ranged between26 and42 years, with a median age value of(30.5±2.67) years, while in unbalanced translocations the values were between24-37 with a median age of(30.5±4.59) years.In three cases(13%) of balanced translocations in the patient’s history previous chromosomal aberrations had been recorded.In nine cases of the same group(39%) previous miscarriages were reported.In cases in which balanced translocation was suspected, karyotyping was done in the16th-23rdgestational weeks.In three cases of unbalanced translocation, karyotyping was performed in weeks18 or19. Among the28 cases examined by us,12 carried reciprocal and16 were affected byRobertsonian translocations.If the involvement of chromosomes in balanced translocations was concerned, chromosome14was found to be overwhelmingly affected.In14 of the25 cases(56%) examined by us, this chromosome was definitely affected by translocation.Frequently occurring translocations in chromosomes1,13 and22 are also worth mentioning.Conclusions:Ultrasonography performed after karyotyping-in the cases of balanced translocations-and the results of fetal echocardiography-if such imaging was done at all-provide important information about the prognosis of the fetus.In case of sonographically normal fetal anatomy the good outcome of pregnancy is probable, while in cases of unbalanced translocations the sonography reconfirms the chances of poor outcome.

  15. Influence of HLA DQ 2/8 genotypes in predisposing type 1 diabetes in siblings of a Saudi family with paternally inherited chromosomal translocations.

    Science.gov (United States)

    Cherian, Mathew P

    2012-01-01

    Type 1 diabetes is one of the most widely studied complex genetic disorders and the genes in human leukocyte antigen (HLA) locus are reported to account approximately 40%-50% of familial aggregation of type 1 diabetes. Genetic markers are helpful in assessing the risk of type 1 diabetes in the general population as well as in close relatives of a patient with type 1 diabetes. The major genetic determinants of this disease are polymorphisms of class II HLA genes encoding DQ and DR. The major susceptibility genes for type 1 diabetes are in the HLA region, and over 90% of patients carry genotypes DR4, DQ8 and/or DR3, DQ2. Absence of the above alleles makes type 1 diabetes very unlikely, especially if the subject carries protective genotypes such as DR2 and/or DQ6. In this brief report of a consanguineous Saudi family, four offsprings inherited one or both of balanced reciprocal translocations from their father. Two offsprings, one with a translocation and the other without, developed type 1 diabetes during early childhood. Both these diabetic children were found to have HLA genotype DQ 2/8, whereas the father and the youngest daughter, both carrying two sets of balanced translocations as well as the protective HLA genotype DQ6, were free of diabetes during several years of observation. This underscores the influence of HLA genotype DQ 2/8 in the susceptibility and DQ6 in the protective effect on type 1 diabetes even in individuals with gross chromosomal abnormalities. PMID:22876559

  16. Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

    OpenAIRE

    Cremers, F P; van de Pol, D J; Wieringa, B; Collins, F S; Sankila, E M; Siu, V. M.; Flintoff, W F; Brunsmann, F.; Blonden, L A; Ropers, H H

    1989-01-01

    Choroideremia (tapeto-choroidal dystrophy, TCD), an X chromosome-linked disorder of retina and choroid, causes progressive nightblindness and central blindness in affected males by the third to fourth decade of life. Recently, we have been able to map the TCD gene to a small region of overlap between five different, male-viable Xq21 deletions that were found in patients with TCD and other clinical features. Two families were identified in which classical, nonsyndromic TCD is associated with s...

  17. Clinical Analysis of the Relationship between Balanced Chromosomal Translocation and Abnormal Pregnancy%染色体平衡易位携带者引起不良孕育的临床分析

    Institute of Scientific and Technical Information of China (English)

    沈红霞; 尹坤

    2015-01-01

    目的:通过对2450例有自然流产、死胎、畸胎、少精等不良孕育史的患者的染色体结果调查,探讨平衡易位与不良孕育史的关系。方法:取外周血进行淋巴细胞培养,染色体G显带分析。结果:2450例患者中检出染色体平衡易位22例(罗伯逊易位3例),占0.90%。患者表现为自然流产、死胎、畸形儿、少精等不良孕育史。结论:染色体平衡易位是导致患者不良孕育史的重要原因之一。对这类人群进行遗传优生和产前诊断及辅助生殖指导等有针对性的检查和临床干预是非常必要的。%Objective: To investigate 2 450 patients' chromosomes with a history of abnormal pregnancy such as spontaneous abortion, fetal death, teratism, and oligospermia and to explore the relationship between balanced chromosomal translocation and abnormal pregnancy. Methods:Chromosomal analysis was made by peripheral lymphocytes culture and G-banding. Results:22 cases of balanced translocation were discovered(3 cases of robertsonian translocation)accounting for 0.90%. Spontaneous abortion, fetal death, teratism, and oligospermia were main manifestations of abnormal pregnancy. Conclusion:Balanced chromosomal translocation was a major reason for abnormal pregnancy. Examination of heredity and prepotency, prenatal diagnosis, guidance on assisted production were necessary for balanced chromosomal translocation carriers.

  18. A Novel Four-Way Complex Variant Translocation Involving Chromosome 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) in a Chronic Myeloid Leukemia Patient

    Science.gov (United States)

    Asif, Muhammad; Jamal, Mohammad Sarwar; Khan, Abdul Rehman; Naseer, Muhammad Imran; Hussain, Abrar; Choudhry, Hani; Malik, Arif; Khan, Shahida Aziz; Mahmoud, Maged Mostafa; Ali, Ashraf; Iram, Saima; Kamran, Kashif; Iqbal, Asim; Abduljaleel, Zainularifeen; Pushparaj, Peter Natesan; Rasool, Mahmood

    2016-01-01

    Philadelphia (Ph) chromosome (9;22)(q34;q11) is well established in more than 90% of chronic myeloid leukemia (CML) patients, and the remaining 5–8% of CML patients show variant and complex translocations, with the involvement of third, fourth, or fifth chromosome other than 9;22. However, in very rare cases, the fourth chromosome is involved. Here, we found a novel case of four-way Ph+ chromosome translocation involving 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) with CML in the chronic phase. Complete blood cell count of the CML patient was carried out to obtain total leukocytes count, hemoglobin, and platelets. Fluorescence in situ hybridization technique was used for the identification of BCR–ABL fusion gene, and cytogenetic test for the confirmation of Ph (9;22)(q34;q11) and the mechanism of variant translocation in the bone marrow. The patient is successfully treated with a dose of 400 mg/day imatinib mesylate (Gleevec). We observed a significant decrease in white blood cell count of 11.7 × 109/L after 48-month follow-up. Patient started feeling better generally. There was a reduction in the swelling of the body, fatigue, and anxiety. PMID:27303656

  19. A Novel four-way complex variant translocation involving chromosome 46, XY, t(4;9; 19;22(q25:q34;p13.3;q11.2 in a chronic myeloid leukemia patient

    Directory of Open Access Journals (Sweden)

    Muhammad eAsif

    2016-05-01

    Full Text Available Philadelphia (Ph chromosome (9; 22(q34;q11 is well established in more than 90% of chronic myeloid leukemia (CML patients and the remaining 5-8% CML patients show variant and complex translocations, with the involvement of third, fourth or fifth chromosome other then 9;22. However, in very rare cases the fourth chromosome is involved. Here, we find a novel case of four way Ph+ chromosome translocation involving 46,XY, t(4;9;19;22(q25:q34;p13.3;q11.2 with CML in the chronic phase. Complete blood cell count of CML patient was carried out to obtain total leukocytes count, hemoglobin and platelets. Fluorescence In situ hybridization technique was used for the identification of BCR-ABL fusion gene and cryptogenic test for the confirmation of Ph (9; 22(q34;q11 and the mechanism of variant translocation in the bone marrow. The patient is successfully treated with Imatinib mesylate (Gleevec with 400mg/day dose. We observed a significant decrease in WBC count after 48 months follow up 11.7 x109/L. Patient started feeling better generally. There was a reduction in the swelling of the body, fatigue and anxiety.

  20. Analysis of relationship between patients with chromosomal translocation and the outcome of pregnancy%染色体易位携带者核型分析与妊娠结局的关系

    Institute of Scientific and Technical Information of China (English)

    张磷; 任梅宏; 张晓红; 宋桂宁; 王建六

    2013-01-01

    目的 探讨不同染色体间易位与临床效应的关系,为优生和辅助生殖提供理论指导.方法 收集2005年1月至2011年12月在北京大学人民医院不孕不育和产前诊断中心进行咨询的患者3067例,对其染色体核型及临床资料进行综合分析.结果 72例染色体易位患者中,17例妊娠后检测胎儿染色体易位位点与夫妻一方一致,继续妊娠(17例中70.59%有多次不良孕产史);另40例染色体易位患者有1~5次不良妊娠史,导致不育结局;还有15例染色体易位患者表现为不同程度的生殖器形态或功能障碍,致原发不孕.结论 染色体易位携带者是男女不孕不育的重要因素之一,对其自然受孕或辅助生殖者应行产前诊断,以避免染色体异常患儿出生.%Objective To explore the relationship between chromosome translocation and their phenotypic effect by analyzing the patients with loss pregnancy and avoiding fetuses with chromosomal abnormalities.Methods A total of 3067 cases with infertility or loss pregnancy were recruited to receive chromosome examination during January 2005 to December 2011 at Center of Prenatal Diagnosis,Peking University People's Hospital.Retrospective study was used to analyze the chromosome karyotypes and infertility or loss pregnancy.Results In 72 cases of patients with chromosome translocation,there were 17 pregnancies with homology translocation in fetus.And the numbers of patients with loss pregnancy and sex apparatus malformations were 40 and 15 respectively.Conclusion Chromosome translocation plays an important role in patients with loss pregnancy or infertility.And chromosome examination should be performed to exclude the possibility of chromosome abnormities in patients with obstinate infertility.

  1. The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation

    OpenAIRE

    Nilgun Tanriverdi; Ayfer Pazarbasi; Dilara Suleymanova Karahan; Ilker Guney; Deniz Tastemir; Erdal Tunc; Osman Demirhan; Ozlem Herguner

    2013-01-01

    Purpose: Mental retardation is a common handicap (2-3% of the general population) with an unknown cause in more than 50% of mentally retarded patients. Important causes are chromosome abnormalities which are detectable in 4-28% of cases, depending on the patient selection and techniques used. Aim of the study was to determine possible association between atypic facial appearance, mental retardation and the translocation [t(16;19)(q24;q12)x2] between two copy of non homolog chromosomes. Materi...

  2. The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation

    OpenAIRE

    Tanrıverdi, Nilgün; Pazarbaşı, Ayfer; Karahan, Dilara Süleymanova; Güney, İlker; Taştemir, Deniz; Tunç, Erdal; DEMIRHAN, OSMAN; Hergüner, Özlem

    2013-01-01

    Purpose: Mental retardation is a common handicap (2-3% of the general population) with an unknown cause in more than 50% of mentally retarded patients. Important causes are chromosome abnormalities which are detectable in 4-28% of cases, depending on the patient selection and techniques used. Aim of the study was to determine possible association between atypic facial appearance, mental retardation and the translocation [t(16;19)(q24;q12)x2] between two copy of non homolog chromosomes. Mate...

  3. Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

    OpenAIRE

    David, Dezső; Marques, Bárbara; Ferreira, Cristina; Vieira, Paula; Corona-Rivera, Alfredo; Ferreira, José Carlos; Van Bokhoven, Hans

    2009-01-01

    Split hand-split foot malformation or ectrodactyly is a heterogeneous congenital defect of digit formation. The aim of this study is the mapping of the breakpoints and a detailed molecular characterization of the candidate genes for an isolated and syndromic form of ectrodactyly, both associated with de novo apparently balanced chromosome translocations involving the same chromosome 2 band, [t(2;11)(q14.2;q14.2)] and [t(2;4)(q14.1;q35)], respectively. Breakpoints were mapped by fluorescence i...

  4. Chromatid Painting for Chromosomal Inversion Detection Project

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose the continued development of a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and...

  5. Chromatid Painting for Chromosomal Inversion Detection Project

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and inversions) have profound genetic...

  6. Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa.

    Science.gov (United States)

    Midro, Alina T; Wiland, Ewa; Panasiuk, Barbara; Leśniewicz, Ryszard; Kurpisz, Maciej

    2006-02-01

    We performed the segregation analysis of a relatively large pedigree of t(7;13)(q34;q13) carriers together with the sperm karyotype analysis of the one carrier using a tri-color fluorescence in situ hybridization (FISH) method. The risk assessments for unfavorable pregnancy outcomes in a series of 36 pregnancies in eight reciprocal chromosome translocation (RCT) couples of carriers were estimated directly from a pedigree after ascertainment correction. The individual probability rate for unbalanced child was predicted according to Stengel-Rutkowski and co-workers. The unbalanced karyotypes in the form of monosomy 7q34-->qter and trisomy 13q13-->qter were detected among stillborn/early death newborns with holoprosencephaly (HPE), cyclopia and other malformations. Based on clinical description of unkaryotyped stillbirth progeny, it can be assumed that the phenotype distinctions were connected with the unbalanced karyotype from 2:2 segregation (monosomy 7q with trisomy 13q) and 3:1 segregation as interchange trisomy 13 (Patau syndrome). Probability rates for miscarriages, stillbirth/early death were 12.9 +/- 6% (4/31) and 29 +/- 8.2% (9/31), respectively. The results of the meiotic segregation pattern indicated the rate of unbalanced spermatozoa for about 60%, with the unusual high rate (29.4%) of 3:1 segregant (i.e., 13.4% of the tertiary segregation and 16% of the interchange segregation). Adjacent-1 segregation followed with 23.5% and adjacent-2 followed with 7.2% of analyzed spermatozoa. The high rate of unbalanced gametes in comparison to the number of stillborn/early death and miscarriages detected in pedigree suggests a strong selection against unbalanced chromosomal constitutions during fetal development. It corresponds to a very small probability rate (about 0.3%) of viable unbalanced progeny from 3:1 meiotic segregation predicted for maternal carriers. This knowledge can be used in genetic counseling of families with similar RCT ascertained in a different

  7. Structural and functional studies of FKHR-PAX3, a reciprocal fusion gene of the t(2;13 chromosomal translocation in alveolar rhabdomyosarcoma.

    Directory of Open Access Journals (Sweden)

    Qiande Hu

    Full Text Available Alveolar rhabdomyosarcoma (ARMS is an aggressive pediatric cancer of skeletal muscle. More than 70% of ARMS tumors carry balanced t(2;13 chromosomal translocation that leads to the production of two novel fusion genes, PAX3-FKHR and FKHR-PAX3. While the PAX3-FKHR gene has been intensely studied, the reciprocal FKHR-PAX3 gene has rarely been described. We report here the cloning and functional characterization of the FKHR-PAX3 gene as the first step towards a better understanding of its potential impact on ARMS biology. From RH30 ARMS cells, we detected and isolated three versions of FKHR-PAX3 cDNAs whose C-terminal sequences corresponded to PAX3c, PAX3d, and PAX3e isoforms. Unlike the nuclear-specific localization of PAX3-FKHR, the reciprocal FKHR-PAX3 proteins stayed predominantly in the cytoplasm. FKHR-PAX3 potently inhibited myogenesis in both non-transformed myoblast cells and ARMS cells. We showed that FKHR-PAX3 was not a classic oncogene but could act as a facilitator in oncogenic pathways by stabilizing PAX3-FKHR expression, enhancing cell proliferation, clonogenicity, anchorage-independent growth, and matrix adhesion in vitro, and accelerating the onset of tumor formation in xenograft mouse model in vivo. In addition to these pro-oncogenic behaviors, FKHR-PAX3 also negatively affected cell migration and invasion in vitro and lung metastasis in vivo. Taken together, these functional characteristics suggested that FKHR-PAX3 might have a critical role in the early stage of ARMS development.

  8. Analysis of clinical material in 29 cases of chromosome balanced translocation in Shenyang%沈阳地区29例染色体平衡易位者临床资料分析

    Institute of Scientific and Technical Information of China (English)

    孟培; 郝冬梅; 张金艳; 邹朋书

    2013-01-01

    目的 通过对2416例不孕不育、有遗传病或家族史以及不良孕产史患者的染色体结果调查,探讨平衡易位与临床效应关系.方法 取外周血进行淋巴细胞培养,染色体G显带分析.结果 共发现异平衡易位29例(罗伯逊易位5例),占1.20%.结论 染色体平衡易位是导致不孕不育、自然流产及死胎、生育异常儿的重要原因之一,对这类人群进行遗传优生和产前诊断及辅助生殖指导等有针对性的检查和临床干预是非常必要的.%Objective:To investigate the relationship between clinical effect and chromosome balanced translocation.Methods:peripheral blood lymphocyte culture for chromosome and G-banding karyotype analysis were studied in 2416 cases of infertility,genetic disease or family history,and adverse pregnant history.Results:29 cases had balanced translocation (including 5 cases of Robertsonian translocation),abnormal karyotype rate was 1.20%.Conclusion:chromosome balanced translocation is one of the important reasons leading to infertility,abortion,still birth and congenital deformity.Clinical detection and intervention including eugenic advice,prenatal diagnosis and reproductive advice are useful to these population.

  9. A rare case of a three way complex variant positive Philadelphia translocation involving chromosome (9;11;22)(q34;p15;q11) in chronic myeloid leukemia: A case report

    Science.gov (United States)

    Asif, Muhammad; Hussain, Abrar; Rasool, Mahmood

    2016-01-01

    The t(9;22)(q34;q11) translocation is present in 90–95% of patients with chronic myeloid leukemia (CML). Variant complex translocations have been observed in 5–8% of CML patients, in which a third chromosome other than (9;22) is involved. Imatinib mesylate is the first line breakpoint cluster region-Abelson gene (BCR/ABL)-targeted oral therapy for CML, and may produce a complete response in 70–80% of CML patients in the chronic phase. In the present study, a bone marrow sample was used for conventional cytogenetic analysis, and the fluorescence in situ hybridization (FISH) test was used for BCR/ABL gene detection. A hematological analysis was also performed to determine the white blood cell (WBC) count, red blood cell count, hemoglobin levels, packed and mean cell volumes, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration and platelet values of the patient. The hematological analysis of the patient indicated the increased WBC of 186.5×103 cells/µl, and decreased hemoglobin levels of 11.1 g/dl. The FISH test revealed that 67% cells demonstrated BCR/ABL gene translocation. The patient was treated with 400 mg imatinib mesylate daily, and was monitored at various intervals over a 6-month period. The present study reports the rare case of a patient that demonstrates a three-way Philadelphia chromosome-positive translocation involving 46XY,t(9;11;22)(q34;p15;q11)[10], alongside CML in the chronic phase. The translocation was analyzed using cytogenetic and FISH tests. PMID:27602125

  10. De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease

    OpenAIRE

    PENG, YING; Ma, Ruiyu; Zhou, Yingjie; Xia, Yan; Wen, Juan; Zhang, Yanghui; Guo, Ruolan; Li, Haoxian; Pan, Qian; Zhang, Rui; Tang, Chengyuan; Liang, Desheng; Wu, Lingqian

    2015-01-01

    Background Ring chromosome 11[r (11)] is a rare chromosomal abnormality that forms when both arms of chromosome 11 break, and then reunite with each other. Once a ring chromosome forms, the distal ends of both arms of the chromosome are usually lost. Case Presentation We reported a 12 years old girl patient with congenital heart disease and distinctive facial features. Cytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and Single nucleotide polymor...

  11. Combined use of molecular cytogenetic techniques to detect a small chromosomal translocation%综合应用分子细胞遗传学技术检测一例染色体微小易位

    Institute of Scientific and Technical Information of China (English)

    谢英俊; 陈宝江; 吴坚柱; 陈争; 林少宾; 方群

    2011-01-01

    Objective Comprehensive use of molecular cytogenetic techniques for the detection of 1 case of small chromosome translocation.Methods Following conventional chromosome preparation,G-banding karyotype analysis, spectral karyotyping (SKY), whole chromosome painting, two-color fluorescence in situ hybridization (FISH) and subtelomeric probe FISH were performed.Results G-banded karyotype was 46,XX,? (22q11.3),SKY karyotype analysis was 46,XX,der (4) t (4 ; 6) and found no abnormalities on chromosome 22,staining signal was not found with any abnormalities on chromosome 6.Two-color FISH indicated a chromosomal translocation segment of 22q13.3 to one end of the short arm of chromosome 4.Subtelomeric FISH probe showed the end of the long arm of chromosome 22 and the end of the short arm of chromosome 4 reciprocal translocation. High resolution G-banding and FISH result indicated 46,XX,t(4;22)(p15.3;q13.2).Conclusion The testing of small chromosomal translocation should be combined with clinical information and integrated use of molecular cytogenetic techniques to improve the accuracy of diagnosis of chromosomal diseases.%目的 综合应用分子细胞遗传学技术对1例染色体微小易位的病例进行检测.方法 按常规制备染色体,G显带进行核型分析,并先后进行光谱核型分析(spectral karyotyping,SKY),染色体涂染,双色荧光原位杂交技术(fluorescence in situ hybridisation,FISH)检测,亚端粒探针FISH检测.结果 常规G显带染色体核型为46,XX,?(22q11.3),SKY核型分析结果:46,XX,der(4)t(4;6),未发现22号染色体异常,染色体涂染未发现6号染色体信号异常.双色FISH提示其中1个22号染色体22q13.3片段易位到另外1条4号染色体短臂末端.亚端粒探针FISH显示22号染色体长臂末端和4号染色体短臂末端的相互易位.综合上述结果结合染色体高分辨分析,得出染色体核型为:46,XX,t(4;22)(p15.3;q13.2).结论 对于染色体微小易位的病例,应结合相关

  12. 用FISH技术分析一例表型异常的 染色体平衡易位%Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective  To delineate the chromosome structural aberration in a case of chromosome translocation by fluorescence in situ hybridization(FISH) technique and precisely identify the breakpoints. Methods  The whole chromosome point 5(wcp5) and locus-specific probes derived from yeast artificial chromosomes(YACs) mapping the nearby region of breakpoints were used to delineate the translocation t(5;10) found by high resolution G-banding examination in a case with congenital abnormality. Results A balanced translocation was confirmed and the breakpoints were located in the 1.5 Mb area on chromosome 5 and within the approximately 3 Mb interval on chromosome 10. Conclusion  The phenotypic abnormality might result from the disruption of disease-associated gene(s) or microrearrangement(s) on the site of breakpoint(s).%目的应用荧光原位杂交技术对1例染色体结构异常患者进行分析,阐明结构异常性质,并精细定位断点。方法对一先天表型异常经细胞遗传学检查有t(5;10)的病例,分别选用5号染色体探针池以及用酵母人工染色体作为DNA来源制备的断点区位点特异性探针,进行荧光染色体原位杂交。结果证实患者染色体异常属平衡易位,并将5号和10号染色体的断点分别定位到1.5 Mb及约3 Mb的范围。结论患者的先天性表型异常可能由断点处染色体细微重排或致病基因断裂所致。

  13. Chromosomal translocation t(X;18) in human synovial sarcomas analyzed by fluorescence in situ hybridization using paraffin-embedded tissue.

    OpenAIRE

    Nagao, K; Ito, H.; Yoshida, H.

    1996-01-01

    Synovial sarcoma is characterized cytogenetically by translocation t(X;18)(p11.2;q11.2). In this study, 28 cases that had been diagnosed initially as synovial sarcoma, including 2 fibrosarcomas, and 1 leiomyosarcoma were collected and examined for translocation t(X;18) on paraffin-embedded tissues by fluorescence in situ hybridization (FISH). Of the synovial sarcomas, 25 showed findings consistent with translocation t(X;18) with an additional copy signal for the total probe of X and 18 chromo...

  14. 小麦-黑麦1BL/1RS 易位染色体和外源染色体在两个三属杂种中的减数分裂行为%Meiotic Behavior of 1BL/1RS Translocation Chromosome and Alien Chromosome in Two Tri-genera Hybrids

    Institute of Scientific and Technical Information of China (English)

    李义文; 李振声; 贾旭

    2002-01-01

    The behavior of wheat-rye translocation chromosome and alien chromosome including Thinopyrum and Haynaldia chromosome at meiosis was investigated in two hybrids by fluorescence in situ hybridization (FISH). Misdivision of translocation chromosome at anaphase Ⅰ and rye chromatin micronucleus at tetrad stage were observed. A plant with one normal 1BL/1RS translocation chromosome and one 1BL/1RS translocation chromosome deleted about 1/3 of rye chromosome arm in length was identified. One plant with wheat-Thinopyrum non-Robertson translocation chromosome was also detected in the F2 population of Yi4212×Yi4095. That could be the results of unequal misdivision of wheat-rye 1BL/1RS translocation chromosome and Thinopyrum chromosome during meiosis. No interaction between translocation chromosome and alien chromosome at meiosis was supported by the data of the distribution frequencies of translocation chromosome and Thinopyrum or Haynaldia chromosome in the progeny of two hybrids. The results may be useful to cultivate new germplasms with different length of rye 1R short arm and wheat-alien non-Robertson translocation lines under wheat background.%利用荧光原位杂交技术分析了两个小麦-外源种杂种花粉母细胞中1BL/1RS 小麦-黑麦易位染色体和外源染色体包括中间偃麦草(Thinopyrum intermedium (Host) Barkworth & DR Dewey)、簇毛麦(Haynaldia villosa (L.) Schur)染色体的减数分裂行为. 我们首次发现:在减数分裂后期, 1BL/1RS 小麦-黑麦易位染色体发生错分裂,形成两个易位染色单体. 这种错分裂导致易位染色单体在末期Ⅰ分配到两个正在形成的细胞核内,错分裂的易位染色单体进一步形成微核,并在四分体期观察到黑麦的微核出现.从贵农22×遗4095 的F2代植株中检测到一个2n=41的植株,其含有一对1BL/1RS 小麦-黑麦易位染色体,核型分析表明,其中一条黑麦染色体臂比另一条的黑麦染色体臂短1/3左右.在遗4212

  15. Isolation of chromosome-specific DNA sequences from an Alu polymerase chain reaction library to define the breakpoint in a patient with a constitutional translocation t(1;13) (q22;q12) and ganglioneuroblastoma.

    Science.gov (United States)

    Michalski, A J; Cotter, F E; Cowell, J K

    1992-08-01

    We describe the cytogenetic and molecular characterization of a t(1;13)(q22;q12) constitutional rearrangement occurring in a patient with a relatively benign form of neuroblastoma, called ganglioneuroblastoma. Somatic cell hybrids were generated between mouse 3T3 cells and a lymphoblastoid cell line from this patient, D.G. One isolated subclone, DGF27C11, contained the derivative chromosome, 1pter-q22::13q12-qter, but no other material from either chromosome 1 or 13. Using available DNA probes the 13 breakpoint was assigned proximal to all reported markers. In order to generate flanking markers to define this translocation further, an Alu polymerase chain reaction library was constructed from a somatic cell hybrid containing only the proximal, 13pter-13q14, region of chromosome 13. Seven unique sequences have been isolated from the library, three of which lie below and four of which lie above the 13q12 breakpoint. More precise mapping of the distal markers was achieved using a panel of somatic cell hybrids with overlapping deletions of chromosome 13. The paucity of probes in the 1q22 region has made a precise assignment of this breakpoint difficult, however it has been shown to lie distal to c-SKI and proximal to APOA2. This refined characterization of the breakpoint is a prerequisite for its cloning, which may yield genes important in the pathogenesis of ganglioneuroblastoma.

  16. 小麦-簇毛麦属间染色体易位系的高效诱导%High Induction of Intergeneric Chromosome Translocation Lines Between Wheat and Haynaldia villosa

    Institute of Scientific and Technical Information of China (English)

    曹亚萍; 别同德; 陈佩度; 范绍强; 周元成; 张姝敏

    2011-01-01

    A set of materials with Triticum aestivum-Haynaldia villosa translocation chromosomes were created using cv. ‘ Chinese Spring’ (CS)as female and Triticum durum-Haynaldia villosa amphiploid as male whose pollen was treated with 60Co-γ-ray in different dose. Then the set of materials were backcrossed with CS or self-crossed, H.villosa chromosome segments were reserved in M1 or BC1so that alien genes were transferred into wheat. The results showed that frequency of induced translocation chromosomes were significant different using different irradiation doses of 60Co-γ-ray. The plants with T. aestivum-H. villosa translocations induced by 12 Gy and 8 Gy hold 76. 7%and 50. 0% in M1 generation,respectively, and better translocations types were induced by 60Co-γ-ray with 12 Gy dose. 67.6% of these translocations were passed from M1 to BC1 ,and 96. 4% from BC1 to BC2. Alien whole chromosomes were rapidly lost, some pure translocations were obtained in BC2F2.%利用60Coγ射线以不同剂量照射硬粒小麦-簇毛麦双二倍体即将成熟的花粉,将其授于母本中国春,创造出一批包含小麦-簇毛麦易住染色体的材料,对这些材料用中国春进行连续回交或自交,可有效保留簇毛麦染色体片段,实现外源基因的转移.研究结果表明,60Coγ射线照射花粉后产生易位染色体的频率因剂量不同而有显著差异,12 Gy和8 Gy剂量照射后杂交的M1群体中,产生小麦-簇毛麦易位染色体的单株分别占调查总数的76.7%和50.0%,均显著高于用其他方法创造易住的频率,并且12 Gy较8 Gy产生了更优的易住类型;创制的易位染色体有67.6%可以从M1传递到BC1,BC1的易位染色体有96.4%可传递到BC,;在回交后代中,加以人为选择,整条簇毛麦染色体很快丢失,至BC2F2即有纯合易位株出现.

  17. The Study on Induced Chromosome Translocation by Hybridized Among Wheat-Rye Disomic Substitution Lines%小麦-黑麦二体代换系间杂交诱导染色体易位的研究

    Institute of Scientific and Technical Information of China (English)

    李宇欣; 张利国; 厉永鹏; 李集临; 张延明

    2013-01-01

    Hybridization among wheat-rye disomic substitutions is an important way to induce wheat-rye translocation, which has important theory value and practical significance. In this study, translocation lines were bred from hybrid offspring that the hybridization of wheat-rye disomic substitution between 1R/1D, 5R/5A and 6R/6A. The results showed that F1 had 19 bivalents and 4 univalents in meiosis; homoeologous chromosome pairing and chromosome translocation phenomenon appeared. In F2, 24 common wheat types with rye traits plants were detected by genome in situ hybridization and obtained 10 plants with chromosomal translocation, and the translocation frequency was 41.6%. Translocation lines was 06-15-7, 06-16-3, 06-16-5, 06-16-7, 06-16-8, 06-17-7, 0617-11, 06-17-15, 06-17-16 and 06-18-5, respectively. Because parent selection and testing plant had a definite purpose, translocation plants could have a practical applications as well as the basis material for wheat breeding.%小麦-黑麦二体代换系间杂交,是诱导小麦-黑麦染色体易位的重要途径,有理论与应用价值。利用小麦-黑麦二体代换系1R/1D与5R/5A、6R/6A杂交,从杂交后代中,选育易位系。结果表明,F1减数分裂有19个二价体、4个单价体,有部分同源染色体配对和染色体易位现象;F2对普通小麦类型带有黑麦性状的24株杂交材料,进行原位杂交检测,共检测出10株有染色体易位,易位频率为41.6%。易位株系为:06-15-7、06-16-3、06-16-5、06-16-7、06-16-8、06-17-7、0617-11、06-17-15、06-17-16、06-18-5。由于亲本选配与植株检测有一定的目的性,易位植株均表现有应用价值,可作为小麦品种选育的基础材料。

  18. Precursor B-Cell Acute Lymphoblastic Leukemia/Lymphoma with L3 Morphology, Philadelphia Chromosome, MYC Gene Translocation, and Coexpression of TdT and Surface Light Chains: A Case Report

    Directory of Open Access Journals (Sweden)

    Alicia C. Hirzel

    2013-01-01

    Full Text Available Acute lymphoblastic leukemia is predominantly found in children. It is a neoplasm of precursor cells or lymphoblasts committed to either a B- or T-cell lineage. The immature cells in B-acute lymphoblastic leukemia/lymphoma can be small or medium sized with scant or moderate cytoplasm and typically express B-cell markers such as CD19, cytoplasmic CD79a, and TdT without surface light chains. These markers, along with cytogenetic studies, are vital to the diagnosis, classification, and treatment of these neoplasms. We present an unusual case of a precursor B-cell ALL, in an 82-year-old woman, who presented with pancytopenia and widespread lymphadenopathy. The cells show L3 morphology (Burkitt-like lymphoma with coexpression of TdT and surface light chains in addition to an MYC gene translocation and Philadelphia chromosome.

  19. Reciprocal chromosome translocation associated with TDNA-insertion mutation in Arabidopsis: genetic and cytological analyses of consequences for gametophyte development and for construction of doubly mutant lines

    OpenAIRE

    Curtis, Marc J.; Belcram, Katia; Stephanie R Bollmann; Tominey, Colin M.; Hoffman, Peter D.; Mercier, Raphael; Hays, John B.

    2008-01-01

    Chromosomal rearrangements may complicate construction of Arabidopsis with multiple TDNA-insertion mutations. Here, crossing two lines homozygous for insertions in AtREV3 and AtPOLH (chromosomes I and V, respectively) and selfing F1 plants yielded non-Mendelian F2 genotype distributions: frequencies of +/++/+ and 1/1 2/2 progeny were only 0.42 and 0.25%. However, the normal development and fertility of double mutants showed AtPOLH-1 and AtREV3-2 gametes and 1/1 2/2 embryos to be fully viable....

  20. Partners with reciprocal translocations: genetic counseling for the 'double translocation'.

    Science.gov (United States)

    Cook, L; Hartsfield, J K; Vance, G H

    1998-05-01

    SV at age 2 years presented with multiple congenital anomalies including an absent left kidney, anal stenosis, vertebral abnormalities, partial sacral agenesis, microcephaly, dysmorphic facial features, growth deficiency, and developmental delay. She was found to have a complex chromosomal rearrangement derived from balanced translocations in each parent. PMID:9660061

  1. 14q12 translocation in a non-Burkitt lymphoma.

    Directory of Open Access Journals (Sweden)

    Miyamoto,Kanji

    1981-10-01

    Full Text Available Chromosome analysis was performed on cells from a patient of null cell lymphoma, well-differentiated type. A 14q12 translocation was observed in all the banded cells. In addition, there were multiple chromosome abnormalities. This case will be useful in considering the significance of the 14q1(1-3 translocation in malignant lymphoma disease.

  2. The role of the Philadelphia translocation in chronic myeloid leukemia

    OpenAIRE

    Geurts Van Kessel, Ad

    1983-01-01

    textabstractDuring the last two decades evidence for a close association between the presence of specific chromosomal abnormalities and the occurrence of several types of cancers and leukemias has accumulated. The Philadelphia (Ph 1) translocation, present in about 90% of the patients with chronic myeloid leukemia (CML), is one of the most typical and best documented examples of such an aberration. Usually this translocation involves chromosome 9 and 22: t(9;22)(q34;q11). The translocation pr...

  3. Mapping RFLP Loci in Maize Using B-a Translocations

    OpenAIRE

    Weber, D.; Helentjaris, T

    1989-01-01

    Plants hypoploid for specific segments of each of the maize (Zea mays L.) chromosomes were generated using 24 different B-A translocations. Plants carrying each of the B-A translocations were crossed as male parents to inbreds, and sibling progeny hypoploid or not hypoploid for specific chromosomal segments were recovered. Genomic DNAs from the parents, hypoploid progeny, and nonhypoploid (euploid or hyperploid) progeny for each of these B-A translocations were digested with restriction enzym...

  4. Fragility in the 14q21q translocation region

    Directory of Open Access Journals (Sweden)

    Stacy R. Denison

    2002-01-01

    Full Text Available Aphidicolin (APC-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q. Fluorescence in situ hybridization (FISH analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of beta-satellite signal at the translocation region. Per-individual analysis of metaphases from APC-treated peripheral blood lymphocyte cultures identified significantly nonrandom chromosomal breakage at the translocation region in all three individuals examined. The APC-inducible fragility at the 14q21q translocation region suggests that this rearrangement was the result of chromosomal mutation at fragile site(s in the progenitor chromosomes, or that this fragility was the result of the fusion of nonfragile progenitor chromosomes.

  5. Meiotic behaviour and spermatogenesis in male mice heterozygous for translocation types also occurring in man

    NARCIS (Netherlands)

    Nijhoff, J.H.

    1981-01-01

    In this thesis a start was made with meiotic observations of mouse translocation types - a Robertsonian translocation and a translocation between a metacentric and an acrocentric chromosome - which also occur in man. It is generally accepted that, when no chromosomal rearrangements are involved, man

  6. Translocation Renal Cell Carcinomas in Adults: A Single Institution Experience

    OpenAIRE

    Zhong, Minghao; De Angelo, Patricia; Osborne, Lisa; Mondolfi, Paniz; Geller, Matthew; Yang, Youfeng; Linehan, W. Marston; Merino, Maria J.; Cordon-Cardo, Carlos; Cai, Dongming

    2012-01-01

    Translocation renal cell carcinoma is a newly recognized subtype of renal cell carcinoma (RCC) with chromosomal translocations involving TFE3 (Xp11.2) or, less frequently, TFEB (6p21). Xp11 translocation RCC was originally described as a pediatric neoplasm representing 20–40% of pediatric RCCs with a much lower frequency in the adult population. TFEB translocation RCC is very rare, with approximately 10 cases reported in the literature. Here, we describe the clinicopathological features of ad...

  7. Epstein–Barr virus growth-transformed cells are converted to malignancy following transfection of a 1.3-kb CATR1 antisense construct independent of a change in the level of c-myc expression followed by a 8;14 chromosomal translocation

    OpenAIRE

    Li, Dawei; Sun, Xiao Li; Casto, Bruce; Fang, Jin; Theil, Karl; Glaser, Ronald; Milo, George

    1998-01-01

    The AGLCL Epstein–Barr virus (EBV) growth-transformed cell line is incapable of inducing tumors in nude mice. When the cells were transfected with a 1.3-kb CATR1 antisense cDNA construct, progressively growing lymphomas could be induced in nude mice. Chromosome analysis of the parental, transfected, and tumor cells revealed that a chromosomal translocation t(8;14)(q24.1;q32) had occurred in the transfected cells and was retained in cells derived from tumors. Moreover, enhanced c-myc expressio...

  8. Study of a familial insertional translocation involving chromosomes 1 and 7 by using fluorescence in situ hybridization%一个涉及1号和7号染色体插入易位家系的鉴定

    Institute of Scientific and Technical Information of China (English)

    谭跃球; 李秀蓉; 李麓芸; 卢光璓

    2001-01-01

    Objective To determine the karyotype of a case with a history of spontaneous abortion and terminal deletion by using of conventional G-banding method and search the cause of insertional translocation of chromosomal terminal region. Methods Fluorescence in situ hybridization (FISH) technique was performed to analyze the case by using whole chromosome 7 painting probe and subterminal probe of 7q36→qter which was generated by chromosome microdissection technique. Results  The case was a carrier with a very rare insertional translocation involving chromosomes 1 and 7. The region of chromosome 7q36→qter was not inserted into chromosome 1. The abnormal chromosome was inherited from her mother. Conclusion  The present authors provided an experiment evidence that in this case the chromosome insertional translocation including the terminal region was still a three breakage rearrangement and the terminal deletion found by cytogenetics should be an interstitial deletion. Combining with chromosome microdissection, FISH technique is a powerful diagnostic method for detecting the chromosome structural abnormality.%目的确定一个有反复流产史且常规G显带发现有7q末端缺失病例的核型,探讨染色体末端区域插入易位的形成机理。方法应用显微切割制备的7号特异性全染色体探针和7q亚端粒(7q36→qter)探针,与病例的中期分裂相进行荧光原位杂交(fluorescence in situ hybridization, FISH)。结果发现了该病例为常规G显带难以发现的1号和7号染色体之间的插入易位,7q36→qter区域没有插入到1号染色体中,其异常核型来源于其母亲。结论为染色体末端区域的插入易位仍然为一个三断裂重排,细胞遗传学上见到的末端缺失为中间缺失提供了实验证据,FISH与显微切割技术相结合,是检出染色体微小结构异常的一个强有力的工具。

  9. Study on Homoeologous Chromosome Pairing and Translocation Induced by 5A/5R×6A/6R Wheat-Rye Substitution Lines%小麦-黑麦代换系5A/5R与6A/6R杂交诱导同祖染色体配对与易位的研究

    Institute of Scientific and Technical Information of China (English)

    李集临; 王晓萍; 钟丽; 徐香玲

    2006-01-01

    利用两个小麦-黑麦异源双代换系DS 5A/5R与DS 6A/6R杂交,探讨同祖染色体配对的可能性与创制小麦黑麦异源易位系.在方法上对杂种F1的减数分裂行为进行研究,观察5R与5A、6R与6A配对频率,探讨同祖染色体配对规律.实验结果看到:杂交F1减数分裂中有22.91%的花粉母细胞有小麦染色体(ABD组)与黑麦染色体(R组)发生同祖配对.在F2及以后世代,通过染色体C分带、原位杂交检测,选择小麦-黑麦易位系.在F2代的45株中检测到9株有易位,易位频率为20%,是目前小麦-黑麦染色体易位频率最高的.染色体易位有的来源于同祖配对的交换,有的来源于单价体错分裂或断裂的重建.%This article aims to study the homoeologous chromosome pairing and translocation induced by 5A/5R×6A/6R wheat-rye substitution lines. To clarify the mechanism of homoeologous chromosome pairing and create wheat-rye translocation lines, two wheat-rye substitution lines, 5A/5R and 6A/6R were crossed. The chromosome behavior of pollen mother cells (PMCs) in meiosis was investigated in hybrid F1. Homoeologous chromosome pairing between wheat and rye occurred in 22.9 1% of PMC. Wheat-rye translocation lines were identified via C-banding and in situ hybridization (GISH) in hybrid F2 and later generations. In F2 generation, translocations happened in 9 of 45 plants, reached to 20%. These translocation lines were generated from homoeologous chromosome pairing, or mis-division and reconstruction of univalent chromosomes.

  10. 8-14 translocation in a Japanese Burkitt's lymphoma.

    OpenAIRE

    Miyamoto,Kanji; Sato, Jiro; Miyoshi, Isao; Nishihara,Ryuji; Terao, Seiya; Hara, Masamichi; Kimura,Ikuro

    1980-01-01

    Chromosome analysis was performed on cells obtained from the pleural effusion of a Japanese patient with Burkitt's lymphoma. Two modal chromosomal numbers were found: 45 and 46. Five different karyotypes were present, all having a t (8q-;14q+) translocation. This case illustrates that Burkitt's lymphomas of Japanese are no exception to the frequent association of this chromosomal abnormality with Burkitt's lymphomas.

  11. Chromosomal rearrangements in cattle and pigs revealed by chromosome microdissection and chromosome painting

    OpenAIRE

    Yerle Martine; Ducos Alain; Pinton Alain

    2003-01-01

    Abstract A pericentric inversion of chromosome 4 in a boar, as well as a case of (2q-;5p+) translocation mosaicism in a bull were analysed by chromosome painting using probes generated by conventional microdissection. For the porcine inversion, probes specific for p arms and q arms were produced and hybridised simultaneously on metaphases of a heterozygote carrier. In the case of the bovine translocation, two whole chromosome probes (chromosome 5, and derived chromosome 5) were elaborated and...

  12. Genetic reporter system for oncogenic Igh–Myc translocations in mice

    OpenAIRE

    Takizawa, M.; Kim, JS; Tessarollo, L; McNeil, N; Waldschmidt, TJ; Casellas, R; Ried, T; Janz, S.

    2010-01-01

    The Myc-deregulating chromosomal T(12;15)(Igh–Myc) translocation, the hallmark mutation of inflammation- and interleukin 6-dependent mouse plasmacytoma (PCT), is the premier model of cancer-associated chromosomal translocations because it is the only translocation in mice that occurs spontaneously (B lymphocyte lineage) and with predictably high incidence (~85% of PCT), and has a direct counterpart in humans: Burkitt lymphoma t(8;14)(q24;q32) translocation. Here, we report on the development ...

  13. Human Lymphoid Translocation Fragile Zones Are Hypomethylated and Have Accessible Chromatin

    OpenAIRE

    Lu, Zhengfei; Lieber, Michael R.; Tsai, Albert G.; Pardo, Carolina E.; Müschen, Markus; Kladde, Michael P.; Hsieh, Chih-Lin

    2015-01-01

    Chromosomal translocations are a hallmark of hematopoietic malignancies. CG motifs within translocation fragile zones (typically 20 to 600 bp in size) are prone to chromosomal translocation in lymphomas. Here we demonstrate that the CG motifs in human translocation fragile zones are hypomethylated relative to the adjacent DNA. Using a methyltransferase footprinting assay on isolated nuclei (in vitro), we find that the chromatin at these fragile zones is accessible. We also examined in vivo ac...

  14. Familial complex chromosomal rearrangement resulting in a recombinant chromosome.

    Science.gov (United States)

    Berend, Sue Ann; Bodamer, Olaf A F; Shapira, Stuart K; Shaffer, Lisa G; Bacino, Carlos A

    2002-05-15

    Familial complex chromosomal rearrangements (CCRs) are rare and tend to involve fewer breakpoints and fewer chromosomes than CCRs that are de novo in origin. We report on a CCR identified in a child with congenital heart disease and dysmorphic features. Initially, the child's karyotype was thought to involve a straightforward three-way translocation between chromosomes 3, 8, and 16. However, after analyzing the mother's chromosomes, the mother was found to have a more complex rearrangement that resulted in a recombinant chromosome in the child. The mother's karyotype included an inverted chromosome 2 and multiple translocations involving chromosomes 3, 5, 8, and 16. No evidence of deletion or duplication that could account for the clinical findings in the child was identified.

  15. The Use of Double-Monotelodisomics to Identify Translocations in Triticum aestivum

    DEFF Research Database (Denmark)

    Linde-Laursen, Ib; Larsen, J.

    1974-01-01

    By analysing metaphase I of double-monotelodisomic hybrids between two varieties of hexaploid wheat differentiated by reciprocal translocations it is possible to establish reliably the chromosomes involved in each translocation. Also the chromosome parts translocated may be identified. The use of...... the double-monotelodisomic method should be especially valuable when the monosomic method has identified four or more chromosomes participating in multivalent formation in roughly similar frequencies. The method was used to confirm the 5BL-7BL translocation differentiating Cappelle Desprez from...... Chinese Spring and Starke and to show a 7AL-7DS translocation differentiating Starke from Cappelle Desprez and Chinese Spring....

  16. Clinical investigation to compare aCGH and FISH in preimplantationgenetic diagnosis of chromosome translocation carriers%微阵列芯片比较基因组杂交技术在染色体易位携带者胚胎植入前遗传学诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    谢言信; 徐艳文; 苗本郁; 曾艳红; 王静; 周灿权

    2014-01-01

    Robertsonian translocation carrier couples,including 33 cycles for reciprocal translocation carriers and 22 cycles for Robertsonian translocation carriers performed using array CGH,and 119 cycles for reciprocal translocation carriers and 46 cycles for Robertsonian translocation carriers performed using FISH were retrospectively studied.The rate of accurate diagnosis was compared between two methods.Results Normal and/or balance rates of the two translocated chromosomes detected by aCGH for both reciprocal and Robertsonian translocation carriers were 38.20% (123/322) and 67.20% (127/189),significantly higher than 15.39% (195/1 267) and 30.75% (202/657) by FISH (all P <0.05).Abnormal rates of the two translocated chromosomes detected by aCGH for both reciprocal and Robertsonian translocation carriers were 59.32% (191/322) and 30.69% (58/189),significantly lower than 83.03% (1 052/1 267) and 67.43% (443/657) by FISH (all P < 0.05).And the rate of aneu ploidy in non-translocated chromosome from reciprocal translocation embryos was 20.19% (65/322),which was significantly lower than 38.62% (13/189) from Robertsonian translocation embryos (P < 0.01).Conclusions Normal and/or balance rates of the two translocated chromosomes detected by array CGH were significantly higher than FISH.And the rate of aneuploidy in non-translocated chromosomes from reciprocal translocation embryos was significantly lower than that from Robertsonian translocation embryos.

  17. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J;

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

  18. Effects of the 6VS/6AL Translocation Chromosome on Agronomic Characteristics of Wheat%小麦-簇毛麦6VS/6AL易位染色体对小麦农艺性状的影响

    Institute of Scientific and Technical Information of China (English)

    李桂萍; 陈佩度; 张守忠; 赵和

    2011-01-01

    利用3类试验材料,即由不同生态类型的推广品种与小麦-簇毛麦6VS/6AL易位系经过杂交回交选育的高代品系(种),3份涉及6VS/6AL的高代分离品系以及5个以小麦-簇毛麦6VS/6AL易位系作杂交亲本的F2群体,对含有与不含有6VS/6AL易位染色体材料的产量、株高、穗长、德粒数、穗粒重和千粒重等农艺性状进行方差分析.结果表明,6VS/6AL易位染色体对后代的小穗数、穗粒数、穗粒重和产量等农艺性状没有表现出明显的影响,对穗长和千粒重表现出一定的正向效应.多数6VS/6AL衍生品系的株高与亲本相比有所增加,但在同一组合的不同品系之间表现出一定的差异,在育种过程中通过选择可改变增高趋势.6VS/6AL易位系对白粉病免疫,并且遗传稳定,对小麦的抗病育种是很有潜力的抗源亲本.%Three types of materials were selected including derived advanced lines carrying 6VS/6AL translo-cation chromosome and their respective parents, three segregation advanced lines and five F2 population derived from wheat-H, villosa 6VS/6AL translocation line. The F-test of their agronomic characteristics were done using the SAS8. 2 System. The results showed that there were no significant differences between 6VS/6AL lines and their recurrent parents in agronomic traits, including grain yield, spikelets, grains/spike and grain weight/spike. 6VS/ 6AL lines showed slightly but significantly higher 1000-grain weight and spike length. Most 6VS/6AL derivatives showed higher plant height than their control parents. However, significant variation occurred for this trait among sister lines from the same cross, indicating that additional selection could lead to further improvements. It was concluded that the 6VS/6AL translocation can be used in wheat breeding programs as a donor of resistance to powdery mildew with no obvious undesirable effects on agronomic characteristics.

  19. Measurement of background translocation frequencies in individuals with clones

    Energy Technology Data Exchange (ETDEWEB)

    Wade, M.J.

    1996-08-01

    In the leukemia case the unseparated B and T lymphocytes had a high translocation frequency even after 0.0014, respectively. After purging all clones from the data, the translocation frequencies for Bio 8 and Bio 23 were 0.00750.0014 and 0.0073 metaphases were scored for chromosomal aberrations,, specifically reciprocal translocations, using fluorescence in situ hybridization (FISH). Metaphase spreads were used from two healthy, unexposed individuals (not exposed to radiation, chemotherapy or radiotherapy) and one early B- precursor acute lymphocytic leukemia (ALL) patient (metaphase spreads from both separated T lymphocytes and unseparated B and T lymphocytes were scored). All three individuals had an abnormally high translocation frequency. The high translocation frequencies resulted from clonal expansion of specific translocated chromosomes. I show in this thesis that by purging (discounting or removing) clones from the data of unexposed individuals, one can obtain true background translocation frequencies. In two cases, Bio 8 and Bio 23, the measured translocation frequency for chromosomes 1, 2 and 4 was 0.0124 purging all of the clones from the data. This high translocation frequency may be due to a low frequency of some clones and may not be recognized. The separated T lymphocytes had a higher translocation frequency than expected.

  20. 普通小麦-大赖草-簇毛麦异附加、易位系的选育和鉴定%Development of Wheat-alien Lines with Added Leymus racemosus Chromosomes and 6VS/6AL Translocation Chromosomes

    Institute of Scientific and Technical Information of China (English)

    陈发棣; 陈佩度; 王苏玲

    2001-01-01

    By chromosome C-banding and bi-color fluorescence in situhybridization (FISH) using digoxigenin-labelled total genomic DNA of Leymus racemosus (Lam.) Tzvel. and biotinylated total genomic DNA of Haynaldia villosa (L.) Schur as probes, three wheat-alien lines with L. racemosus Lr.7 addition and H. villosa 6VS/6AL translocated chromosomes, and eight lines with L. racemosus Lr.14 addition and H. villosa 6VS/6AL translocated chromosomes were respectively identified from DALr.7×T6VS/6AL (93G51-4×P64) and DALr.14×T6VS/6AL (94G15×P64) F2 or F3 hybrids. Fluorescein-isothiocyanate-conjugated avidin and rhodamine-conjugated sheep anti-digoxigenin Fab fragment were used in bi-color FISH detection. The chromosomes of L.racemosus and 6VS fragment of H. villosa were simultaneously detected by their red and green fluorescence. Powdery mildew and scab resistance were also evaluated. The result showed that the obtained plants had high resistance to these two diseases. The potential usage of bi-color FISH in identifying chromatin of L.racemosus and H.villosa was discussed.%利用根尖细胞(RTC)有丝分裂中期染色体和花粉母细胞减数分裂中期Ⅰ(PMCMⅠ)染色体C分带和以生物素标记的簇毛麦基因组DNA及以地高辛标记的大赖草基因组DNA为探针的双色荧光原位杂交(bi-colorFISH),从DALr.7×T6VS/6AL(93G51-4×P64)F2和F3群体中筛选出3株普通小麦(Triticum aestivum L.)-大赖草(Leymus racemosus (Lam.) Tzvel.)Lr.7二体附加、普通小麦-簇毛麦(Haynaldia villosa (L.)Schur)6VS/6AL易位系;从DALr.14×T6VS/6AL(94G15×P64)F2和F3群体中选出8株普通小麦-大赖草Lr.14二体附加、普通小麦-簇毛麦6VS/6AL易位系。通过温室白粉病抗性鉴定和单花滴注赤霉病抗性鉴定,结果表明:所选育的普通小麦-大赖草-簇毛麦异附加、易位系对白粉病表现免疫,对赤霉病有较高抗性。还对利用双色FISH鉴定大赖草和簇毛麦染色质的

  1. Fragility in the 14q21q translocation region

    OpenAIRE

    Stacy R. Denison; Multani, Asha S.; Sen Pathak; Ira F. Greenbaum

    2002-01-01

    Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q). Fluorescence in situ hybridization (FISH) analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of beta-satellite signal at the translocation region. Per-individual analysis of metaphases from APC-treated peripheral blood lymphocyte cultures identified significantly nonrandom c...

  2. Meiotic behaviour of two human reciprocal translocations.

    OpenAIRE

    Egozcue, J; S Marina; Templado, C

    1981-01-01

    The meiotic behaviour of two male human reciprocal translocations is described. One patient had an unbalanced son and a chain configuration. The second had a stillborn child and a ring corresponding to an adjacent I segregation. The meiotic behaviour of chromosomal rearrangements must be investigated for proper genetic counselling.

  3. Familial cryptic translocation in Angelman syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Weyerts, L.K.; Wiley, J.E.; Loud, K.M. [ECU School of Medicine, Greenville, NC (United States)] [and others

    1994-09-01

    The majority of patients with Angelman syndrome have been shown to have a cytogenetic or molecular deletion on the maternally derived chromosome 15. We report on a case of Angelman syndrome in which this deletion occurs as an unbalanced cryptic translocation involving chromosomes 14 and 15. The proband was diagnosed clinically as having Angelman syndrome. Multiple cytogenetic studies were done without detecting any deletion. When DNA probes (Oncor) specific for the Prader Willi/Angelman locus became available, the patient was restudied and found to be deleted for {open_quotes}region A{close_quotes} (D15S11) but not for {open_quotes}region B{close_quotes} (GABRB3). No other abnormality was detected. The proband`s mother was then studied. The chromosome 15 marker probe and D15S11 were detected on different chromosomes. Using alpha-satellite probes, a cryptic 14;15 translocation was uncovered. This balanced translocation was also found to be carried by the sister of the proband. This case, along with a case presented at the 1993 ASHG meeting, illustrates the need for using acrocentric probes when studying Angelman syndrome patients. The proband was studied using additional probes specific for this region and found to be deleted for SNRPN but not for D15S10. The breakpoint of the translocation in this patient delineates the smallest deletion of the Angelman syndrome region reported to date and therefore may represent the specific gene involved.

  4. Efficient induction of Wheat-agropyron cristatum 6P translocation lines and GISH detection.

    Directory of Open Access Journals (Sweden)

    Liqiang Song

    Full Text Available The narrow genetic background restricts wheat yield and quality improvement. The wild relatives of wheat are the huge gene pools for wheat improvement and can broaden its genetic basis. Production of wheat-alien translocation lines can transfer alien genes to wheat. So it is important to develop an efficient method to induce wheat-alien chromosome translocation. Agropyroncristatum (P genome carries many potential genes beneficial to disease resistance, stress tolerance and high yield. Chromosome 6P possesses the desirable genes exhibiting good agronomic traits, such as high grain number per spike, powdery mildew resistance and stress tolerance. In this study, the wheat-A. cristatum disomic addition was used as bridge material to produce wheat-A. cristatum translocation lines induced by (60Co-γirradiation. The results of genomic in situ hybridization showed that 216 plants contained alien chromosome translocation among 571 self-pollinated progenies. The frequency of translocation was 37.83%, much higher than previous reports. Moreover, various alien translocation types were identified. The analysis of M2 showed that 62.5% of intergeneric translocation lines grew normally without losing the translocated chromosomes. The paper reported a high efficient technical method for inducing alien translocation between wheat and Agropyroncristatum. Additionally, these translocation lines will be valuable for not only basic research on genetic balance, interaction and expression of different chromosome segments of wheat and alien species, but also wheat breeding programs to utilize superior agronomic traits and good compensation effect from alien chromosomes.

  5. Breeding of Chromosome Translocation Line and F1 Hybrid with Reduced Seed in the Fruit of Watermelon%诱变选育西瓜染色体易位系的步骤及其杂交1代少籽组合的选配

    Institute of Scientific and Technical Information of China (English)

    吴进义; 吴逸华; 谢锡林

    2013-01-01

    用60Coγ射线辐照干种子诱变培育西瓜染色体易位系,并用其进行选配少籽杂交子1代研究,对克服三倍体无籽西瓜种子发芽率低、成苗率低、制种成本高、育苗技术较复杂的缺陷具有重要的意义;易位系杂交子1代西瓜保持了二倍体杂交1代的优良特性,减少了单瓜籽粒数,提高了果实可溶性固形物含量,从而提高了西瓜品质和商品价值.详细介绍了诱变选育西瓜易位系的步骤和技术、易位系的特征特性和优良的西瓜染色体易位杂交1代组合,并针对选育的科丰黑美人、红牡丹等易位系杂交1代分析阐述了染色体易位系杂交一代的优点和应用前景.%The hybrids of watermelon chromosome translocation lines induced by 60Coγ radiation can produce fruit with few seed. This is a favorable option over the triploid seedless watermelon with the challenges of low germination, poor seedling establishment,high cost of seed production,and high technical requirement of transplant production. The F1 hybrid of chromosome translocation lines,in addition to the benefits of regular diploids hybrids,produce fruits with significantly reduced number of seed but increased soluble solid contents,therefore better fruit quality and commercial value. We here describe the procedure and techniques of chromosome translocation induction and selection. We use the examples of Kefeng Heimeiren and Hong Mudan to illustrate the benefits and application of hybrid watermelon with chromosome translocation.

  6. X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Aline Lourenço da Silva

    2006-01-01

    Full Text Available We describe a case of X monosomy associated with a maternally inherited t(13;14 Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.

  7. Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome.

    OpenAIRE

    Wilson, W G; Kennaugh, J M; Kugler, J P; Wyandt, H E

    1983-01-01

    A patient with the Brachmann-de Lange syndrome was found to have an apparently balanced de novo translocation 14q; 21q. The relationship between this uncommon translocation and the patient's phenotype is unclear. Although most patients with the Brachmann-de Lange syndrome have normal chromosomes, the possibility of aetiological heterogeneity, including some rare chromosomal abnormalities, cannot be dismissed.

  8. Two cases of Y; autosome translocations: A 45,X male and a clinically trisomy 18 patient

    Energy Technology Data Exchange (ETDEWEB)

    Farah, S.B.; Ramos, C.F.; Mello, M.P. de; Sartorato, E.L.; Lopes, V.L.G.S.; Cavalcanti, D.P.; Hackel, C. [Universidade Estadual de Campinas, SP (Brazil); Horeilli-Kuitunen, N. [Univ. of Helsinki (Finland)

    1994-02-15

    The authors report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time. 32 refs., 2 figs., 1 tab.

  9. Telomere dysfunction and chromosome instability

    Energy Technology Data Exchange (ETDEWEB)

    Murnane, John P., E-mail: jmurnane@radonc.ucsf.edu [Department of Radiation Oncology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143-1331 (United States)

    2012-02-01

    The ends of chromosomes are composed of a short repeat sequence and associated proteins that together form a cap, called a telomere, that keeps the ends from appearing as double-strand breaks (DSBs) and prevents chromosome fusion. The loss of telomeric repeat sequences or deficiencies in telomeric proteins can result in chromosome fusion and lead to chromosome instability. The similarity between chromosome rearrangements resulting from telomere loss and those found in cancer cells implicates telomere loss as an important mechanism for the chromosome instability contributing to human cancer. Telomere loss in cancer cells can occur through gradual shortening due to insufficient telomerase, the protein that maintains telomeres. However, cancer cells often have a high rate of spontaneous telomere loss despite the expression of telomerase, which has been proposed to result from a combination of oncogene-mediated replication stress and a deficiency in DSB repair in telomeric regions. Chromosome fusion in mammalian cells primarily involves nonhomologous end joining (NHEJ), which is the major form of DSB repair. Chromosome fusion initiates chromosome instability involving breakage-fusion-bridge (B/F/B) cycles, in which dicentric chromosomes form bridges and break as the cell attempts to divide, repeating the process in subsequent cell cycles. Fusion between sister chromatids results in large inverted repeats on the end of the chromosome, which amplify further following additional B/F/B cycles. B/F/B cycles continue until the chromosome acquires a new telomere, most often by translocation of the end of another chromosome. The instability is not confined to a chromosome that loses its telomere, because the instability is transferred to the chromosome donating a translocation. Moreover, the amplified regions are unstable and form extrachromosomal DNA that can reintegrate at new locations. Knowledge concerning the factors promoting telomere loss and its consequences is

  10. 8-14 translocation in a Japanese Burkitt's lymphoma.

    Directory of Open Access Journals (Sweden)

    Miyamoto,Kanji

    1980-04-01

    Full Text Available Chromosome analysis was performed on cells obtained from the pleural effusion of a Japanese patient with Burkitt's lymphoma. Two modal chromosomal numbers were found: 45 and 46. Five different karyotypes were present, all having a t (8q-;14q+ translocation. This case illustrates that Burkitt's lymphomas of Japanese are no exception to the frequent association of this chromosomal abnormality with Burkitt's lymphomas.

  11. 小麦易位系1BL/1RS×7DL.7Ag的F2分子检测及其农艺和品质性状分析%F2 Molecular Detection and the Agronomic and Quality Traits of Chromosome Translocations 1BL/1RS× 7DL.7Ag in Common Wheat

    Institute of Scientific and Technical Information of China (English)

    李佳彬; 胡阳杰; 王宇娟; 宋全昊; 田芳慧; 李法计; 孙道杰

    2012-01-01

    The 1BL/1RS translocation and 7DL. 7Ag translocation have been widely used by wheat breeders to enhance agronomic performance and disease resistance. In the past decades,the introduction and application of 1BL/1RS translocation significantly increased yield potentials and adaptability in China;now it still plays an important role in wheat breeding and production. Currently,the positive effects of 7DL. 7Ag translocation in terms of increasing the yield have caused attention of wheat breeders over the world. The objective of this study was to analysis the effects of 1BL/1RS and 7DL. 7Ag chromosome translocations on the main agronomic,yield and quality traits in wheat. A total of 900 F2 population and F2:3 family derived from the cross 'Yunong 982'(1BL/1RS translocation)/wheatear(7DL. 7Ag translocation) were planted in Yan-gling of Shaanxi Province during 2009-2011. This study identified the chromosome translocation types of F2 population using SSR and STS. In addition,a total of 15 traits of the two parents,F2 population and F2:3 family, such as plant height, spike length, grain number per spike, thousand-grain weight, grain weight per spike and days from emerge to maturity,were investigated (this study took the agronomic traits of F2 population as a reference, the main agronomic traits of F2:3 family were this study's key point). The F-test and multiple comparisons of the agronomic traits of no-translocation lines,homozygous 1BL/1RS translocation lines,homozygous 7DL. 7Ag translocation lines and Double Translocation Lines (1BL/1RS, 7DL. 7Ag) in F2:3 family were done using the SAS8. 2 System. At the same time, the effects of 1BL/1RS translocation and 7DL. 7Ag translocation on wheat quality were tested. The results showed that;STS Lrl9130 maker and Xgwm428 marker were identified,which could effectively distinguish the heterozygous 7DL. 7Ag translocation from homozygous 7DL. 7Ag translocation when they were used together. In terms of agronomic traits and yield traits

  12. Fluorescence in situ hybridization detection of chromosome translocations induced by 60Co γ-rays in human lymphocytes dose-response curve and persistence%用荧光原位杂交技术建立60Coγ射线诱发人外周血淋巴细胞染色体易位率剂量效应曲线及易位的持续性研究

    Institute of Scientific and Technical Information of China (English)

    王晓琳; 李进; 王知权

    2001-01-01

    Objective To study dose-response relationship for chromosome translocation and its persistence measured in human lymphocytes exposed to 60Co γ-rays.Methods The chromosome translocations in human peripheral lymphocytes were detected by fluorescence in situ hybridization using 4# and 7# combination of composite whole chromosome-specific DNA probes and Giemsa stain.Results The dose-response relationship for chromosome translocation induced by 60Co γ-rays in vitro could be described by the function:Y=0.0030+0.0134D+0.0165D2.The frequencies of chromosome translocations induced by 0.5 and 2 Gy γ-irradiation did not diminish over time,so it exhibited excellent persistence.Conclusions The results indicate that retrospective dose-reconstruction can be accomplished using chromosome translocation frequency.%目的研究不同剂量60Coγ射线诱发人外周血淋巴细胞染色体易位率和辐射剂量间的剂量效应关系以及观察易位率在同一剂量、不同时相点的变化。方法采用荧光原位杂交技术和连续Giemsa法,用4号和7号全染色体探针分析0、0.25、0.5、0.75、1和2 Gy 60Coγ射线离体照射诱发人外周血淋巴细胞染色体易位率,同时对两个剂量点进行52和72 h培养,比较其易位率。结果易位率和辐射剂量间的量效关系可以用一个二次多项式方程Y=0.0030+0.0134D+0.0165D2来描述;易位率在52和72 h培养时差异无显著性。结论易位率和辐射剂量间存在良好的量效关系,可作为进行早先照射剂量重建的理论依据。

  13. Meiotic behaviour of evolutionary sex-autosome translocations in Bovidae.

    Science.gov (United States)

    Vozdova, Miluse; Ruiz-Herrera, Aurora; Fernandez, Jonathan; Cernohorska, Halina; Frohlich, Jan; Sebestova, Hana; Kubickova, Svatava; Rubes, Jiri

    2016-09-01

    The recurrent occurrence of sex-autosome translocations during mammalian evolution suggests common mechanisms enabling a precise control of meiotic synapsis, recombination and inactivation of sex chromosomes. We used immunofluorescence and FISH to study the meiotic behaviour of sex chromosomes in six species of Bovidae with evolutionary sex-autosome translocations (Tragelaphus strepsiceros, Taurotragus oryx, Tragelaphus imberbis, Tragelaphus spekii, Gazella leptoceros and Nanger dama ruficollis). The autosomal regions of fused sex chromosomes showed normal synapsis with their homologous counterparts. Synapsis in the pseudoautosomal region (PAR) leads to the formation of characteristic bivalent (in T. imberbis and T. spekii with X;BTA13/Y;BTA13), trivalent (in T. strepsiceros and T. oryx with X/Y;BTA13 and G. leptoceros with X;BTA5/Y) and quadrivalent (in N. dama ruficollis with X;BTA5/Y;BTA16) structures at pachynema. However, when compared with other mammals, the number of pachynema lacking MLH1 foci in the PAR was relatively high, especially in T. imberbis and T. spekii, species with both sex chromosomes involved in sex autosome translocations. Meiotic transcriptional inactivation of the sex-autosome translocations assessed by γH2AX staining was restricted to their gonosomal regions. Despite intraspecies differences, the evolutionary fixation of sex-autosome translocations among bovids appears to involve general mechanisms ensuring sex chromosome pairing, synapsis, recombination and inactivation.

  14. Novel t(1;3)(q21,p21) translocation in a basal cell adenocarcinoma of the parotid gland: potential association with tumorigenesis.

    Science.gov (United States)

    Saluja, Karan; Rao, Pulivarthi H; Myers, Jeffery N; El-Naggar, Adel K

    2016-08-01

    We report a rare translocation involving chromosomes 1q23 and 3p21 regions in a basaloid salivary carcinoma. Our case together with a previously reported instance of translocation involving chromosome 1q 21-24 region defines a specific chromosomal segment that may house a gene associated with the development of a subset of basaloid salivary tumors.

  15. Dominant-lethal mutations and heritable translocations in mice

    Energy Technology Data Exchange (ETDEWEB)

    Generoso, W.M.

    1983-01-01

    Chromosome aberrations are a major component of radiation or chemically induced genetic damage in mammalian germ cells. The types of aberration produced are dependent upon the mutagen used and the germ-cell stage treated. For example, in male meiotic and postmeiotic germ cells certain alkylating chemicals induce both dominant-lethal mutations and heritable translocations while others induce primarily dominant-lethal mutations. Production of these two endpoints appears to be determined by the stability of alkylation products with the chromosomes. If the reaction products are intact in the male chromosomes at the time of sperm entry, they may be repaired in fertilized eggs. If repair is not effected and the alkylation products persist to the time of pronuclear chromosome replication, they lead to chromatid-type aberrations and eventually to dominant-lethality. The production of heritable translocations, on the other hand, requires a transformation of unstable alkylation products into suitable intermediate lesions. The process by which these lesions are converted into chromosome exchange within the male genome takes place after sperm enters the egg but prior to the time of pronuclear chromosome replication (i.e., chromosome-type). Thus, dominant-lethal mutations result from both chromatid- and chromosome-type aberrations while heritable translocations result primarily from the latter type. DNA target sites associated with the production of these two endpoints are discussed.

  16. Dominant-lethal mutations and heritable translocations in mice

    International Nuclear Information System (INIS)

    Chromosome aberrations are a major component of radiation or chemically induced genetic damage in mammalian germ cells. The types of aberration produced are dependent upon the mutagen used and the germ-cell stage treated. For example, in male meiotic and postmeiotic germ cells certain alkylating chemicals induce both dominant-lethal mutations and heritable translocations while others induce primarily dominant-lethal mutations. Production of these two endpoints appears to be determined by the stability of alkylation products with the chromosomes. If the reaction products are intact in the male chromosomes at the time of sperm entry, they may be repaired in fertilized eggs. If repair is not effected and the alkylation products persist to the time of pronuclear chromosome replication, they lead to chromatid-type aberrations and eventually to dominant-lethality. The production of heritable translocations, on the other hand, requires a transformation of unstable alkylation products into suitable intermediate lesions. The process by which these lesions are converted into chromosome exchange within the male genome takes place after sperm enters the egg but prior to the time of pronuclear chromosome replication (i.e., chromosome-type). Thus, dominant-lethal mutations result from both chromatid- and chromosome-type aberrations while heritable translocations result primarily from the latter type. DNA target sites associated with the production of these two endpoints are discussed

  17. 小麦1BL/1RS和7DL·7Ag易位对小麦主要农艺性状的遗传效应%Genetic Effects of Chromosome Translocations 1BL/1RS and 7DL · 7Ag on the Main Agronomic Traits of Common Wheat

    Institute of Scientific and Technical Information of China (English)

    胡阳杰; 田芳慧; 宋全昊; 李法计; 孙道杰

    2012-01-01

    为了解染色体易位对小麦农艺性状的影响,以豫农982(1BL/1RS易位系)和wheatear(7DL.7Ag易位系)杂交后代的900个F2群体及其F2∶3家系为实验材料,对F2群体进行1BL/1RS易位和7DL.7Ag易位类型的分子检测,并对F2群体及F2∶3家系的主要农艺性状进行田间调查(F2群体的农艺性状仅作参考,重点分析F2∶3家系的农艺性状)。结果表明,(1)STS标记Lr19130与SSR引物Xgwm428联合使用可作为共显性标记鉴定纯合与杂合的7DL.7Ag易位,完善了7DL.7Ag易位的分子检测方法;(2)1BL/1RS易位可显著降低株高,提高穗粒数与小穗数;(3)7DL.7Ag易位在籽粒千粒重和饱满度上有显著的正向作用,但7DL.7Ag易位的穗粒数显著低于非7DL.7Ag易位,且有延迟小麦成熟和增加株高的趋势;(4)1BL/1RS和7DL.7Ag双重易位可同时提升小穗数和千粒重,但穗粒数减少。%The 1BL/1RS translocation and 7DL ·7Ag translocation have been widely used by wheat breeders to enhance agronomic performance and disease resistance. The objective of this study was to analyze the genetic effects of 1BL/1RS and 7DL ·7Ag chromosome translocations on the main agro- nomic traits of wheat. A total of 900 F2 population and F2.3 family derived from the cross Yunong 982 (1BL/1RS translocation) / wheatear (TDL · 7Ag translocation) were planted in Yangling of Shaanxi Province during 2009--2011. The chromosome translocation types of F2 population were identified u- sing SSR and STS. In addition, a total of 15 traits of the two parents, F2 population and F2. a family, such as plant height, spike length, grain number per spike, thousand-grain weight, grain weight per spike and days from emergeto maturity, were investigated (this study took the agronomic traits of F2 population as a reference, the main agronomic traits of F2.3 family were the key point of this study). The F-test and multiple comparisons of the agronomic traits of no-translocation

  18. The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements

    OpenAIRE

    Kurahashi, H; Inagaki, H; Ohye, T; Kogo, H.; Tsutsumi, M.; Kato, T.; Tong, M.; Emanuel, BS

    2010-01-01

    The constitutional t(11;22)(q23;q11) is the most common recurrent non-Robertsonian translocation in humans. The breakpoint sequences of both chromosomes are characterized by several hundred base pairs of palindromic AT-rich repeats (PATRRs). Similar PATRRs have also been identified at the breakpoints of other nonrecurrent translocations, suggesting that PATRR-mediated chromosomal translocation represents one of the universal pathways for gross chromosomal rearrangement in the human genome. We...

  19. The recurrent chromosomal translocation t(12;18) (q14~15;q12~21) causes the fusion gene HMGA2-SETBP1 and HMGA2 expression in lipoma and osteochondrolipoma

    OpenAIRE

    PANAGOPOULOS, IOANNIS; Gorunova, Ludmila; Bjerkehagen, Bodil; LOBMAIER, INGVILD; Heim, Sverre

    2015-01-01

    Lipomas are the most common soft tissue tumors in adults. They often carry chromosome aberrations involving 12q13~15 leading to rearrangements of the HMGA2 gene in 12q14.3, with breakpoints occurring within or outside of the gene. Here, we present eleven lipomas and one osteochondrolipoma with a novel recurrent chromosome aberration, t(12;18) (q14~15;q12~21). Molecular studies on eight of the tumors showed that full-length HMGA2 transcript was expressed in three and a chimeric HMGA2 transcrip...

  20. A recurrent translocation is mediated by homologous recombination between HERV-H elements

    Directory of Open Access Journals (Sweden)

    Hermetz Karen E

    2012-01-01

    Full Text Available Abstract Background Chromosome rearrangements are caused by many mutational mechanisms; of these, recurrent rearrangements can be particularly informative for teasing apart DNA sequence-specific factors. Some recurrent translocations are mediated by homologous recombination between large blocks of segmental duplications on different chromosomes. Here we describe a recurrent unbalanced translocation casued by recombination between shorter homologous regions on chromosomes 4 and 18 in two unrelated children with intellectual disability. Results Array CGH resolved the breakpoints of the 6.97-Megabase (Mb loss of 18q and the 7.30-Mb gain of 4q. Sequencing across the translocation breakpoints revealed that both translocations occurred between 92%-identical human endogenous retrovirus (HERV elements in the same orientation on chromosomes 4 and 18. In addition, we find sequence variation in the chromosome 4 HERV that makes one allele more like the chromosome 18 HERV. Conclusions Homologous recombination between HERVs on the same chromosome is known to cause chromosome deletions, but this is the first report of interchromosomal HERV-HERV recombination leading to a translocation. It is possible that normal sequence variation in substrates of non-allelic homologous recombination (NAHR affects the alignment of recombining segments and influences the propensity to chromosome rearrangement.

  1. Irradiation-Induced Wheat-Alien Translocation Lines and their Application in Wheat Breeding

    International Nuclear Information System (INIS)

    Wild relatives are rich gene resources for wheat improvement. Transfer of useful alien genes to wheat through development of wheat-alien translocations, especially small alien segment translocations, is important for wheat breeding. Wheat-alien genetic stocks such as amphiploid, addition or substitution lines were irradiated for translocation induction. Mature male or female gametes before flowering on the spikes were irradiated by 60Co-Gamma-rays at doses ranging from 800 to 2240 rad. Chromosome C-banding and genomic in situ hybridization (GISH) was used to identify chromosome translocation. Backcross of M1 plants using normal fresh pollen of common wheat was employed to enhance the transmission rate of various structural changes in their progenies. The results showed that a dose of 800∼1200 rad was suitable for pollen irradiation while 1500∼2000 rad was suitable for female-gamete irradiation. Irradiation treatment just before gamete maturation is advantageous to acquire more M1 hybrids with a high frequency of chromosome structural variation. The frequency of plants with at least one translocation chromosome in M1 could be increased up to 70% through pollen irradiation of Triticum durum-Haynaldia villosa amphiploid. More than 100 translocated chromosomes have been identified in the BC1 and BC2. Translocations with small alien chromosome segments, 57 terminal and 80 intercalary, were induced through female gamete irradiation conducted on T.aestivum-H.villosa 6VS/6AL translocation line. For the 2240 Rad dosage treatment, the induction frequencies of interstitial translocation, terminal translocation and deletion were 21.02%, 14.01%, and 14.65%, respectively, which were much higher than those previously reported. The T.aestivum-H.villosa 6VS/6AL translocation has been used in wheat breeding and many elite cultivars, such as Nannong 9918, Neimai 9, Shimai 14, etc. have been developed and released. (author)

  2. Mapping of human chromosomal regions related to neoplasia: evidence from chromosomes 1 and 17

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.

    1977-12-01

    In clonal aberrations leading to an excess or partial excess of chromosome I, trisomy for bands 1q25-1q32 was noted in the myeloid cells from all of 34 patients who had various disorders such as acute leukemia, polycythemia vera, and myelofibrosis. This was not the result of a particularly fragile site in that region of the chromosome because the break points in reciprocal translocations that involve it occurred almost exclusively in the short arm. Two consistent rearrangements that have been observed in chromosome 17 produced either duplication of the entire long arm or a translocation of the distal portion of the long arm to chromosome 15. The nonrandom chromosomal changes found in hematologic disorders can now be correlated with the gene loci on these chromosomes or chromosomal segments. Seventy-five genes related to various metabolic enzymes have been mapped; it may be significant that chromosomes carrying gene loci related to nucleic acid metabolism are more frequently involved in hematologic disorders (and other malignancies as well) than are gene loci related to intermediary or carbohydrate metabolism. Furthermore, the known virus-human chromosome associations are closely correlated with the chromosomes affected in hematologic disorders. If one of the effects of carcinogens (including viruses) is to activate genes that regulate host cell DNA synthesis, and if translocations or duplications of specific chromosomal segments produce the same effect, then either of these mechanisms might provide the affected cell with a proliferative advantage.

  3. Genes and translocations involved in POF.

    Science.gov (United States)

    Schlessinger, David; Herrera, Luisa; Crisponi, Laura; Mumm, Steven; Percesepe, Antonio; Pellegrini, Massimo; Pilia, Giuseppe; Forabosco, Antonino

    2002-08-15

    Changes at a single autosomal locus and many X-linked loci have been implicated in women with gonadal dysgenesis [premature ovarian failure (POF) with deficits in ovarian follicles]. For the chromosome 3 locus, a forkhead transcription factor gene (FOXL2) has been identified, in which lesions result in decreased follicles by haploinsufficiency. In contrast, sporadic X; autosomal translocations are distributed at many points on the X, but concentrate in a critical region on Xq. The association of the breakpoints with genes involved in ovarian function is thus far weak (in four analyzed cases) and has not been related to pathology in other POF patients. While many more translocations can be analyzed in detail as the human genome sequence is refined, it remains possible that translocations like X monosomy (Turner syndrome) lead to POF not by interrupting specific genes important in ovarian development, but by causing aberrations in pairing or X-inactivation during folliculogenesis. It is noted that the critical region has unusual features, neighboring the X-inactivation center and including an 18 Mb region of very low recombination. These suggest that chromosome dynamics in the region may be sensitive to structural changes, and when modified by translocations might provoke apoptosis at meiotic checkpoints. Choices among models for the etiology of POF should be feasible based on studies of ovarian follicle development and attrition in mouse models. Studies would prominently include gene expression profiling of developmental-specific pathways in nascent ovaries with controlled levels of Foxl2 and interacting proteins, or with defined changes in the X chromosome.

  4. A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation

    OpenAIRE

    Edelmann, L.; Spiteri, E.; McCain, N.; Goldberg, R.; Pandita, R. K.; Duong, S; Fox, J; Blumenthal, D; Lalani, S. R.; Shaffer, L. G.; Morrow, B E

    1999-01-01

    Structural chromosomal rearrangements occur commonly in the general population. Individuals that carry a balanced translocation are at risk of having unbalanced offspring; therefore, the frequency of translocations in couples with recurrent spontaneous abortions is higher than that in the general population. The constitutional t(11;22) translocation is the most common recurrent non-Robertsonian translocation in humans and may serve as a model to determine the mechanism...

  5. Identification of Wheat-Agropyron cristatum 6P Chromosome Intercalary Translocation Lines%普通小麦-冰草6P染色体中间插入易位系的鉴定

    Institute of Scientific and Technical Information of China (English)

    黄琛; 张锦鹏; 刘伟华; 杨欣明; 李秀全; 鲁玉清; 李立会; 高爱农

    2013-01-01

    Distant hybridization is a practical way to introduce the chromatins carrying agronomically desirable genes of the wheat related species into the common wheat in order to enhance the diversity of the wheat genetic pool.The aim of this study was to identify the homozygous small segmental translocation lines with excellent agronomic performances among the progenies of the hybridization between wheat and alien species by using genomic in situ hybridization(GISH).In this study,the translocation progenies of the hybridization between the wheat-Agropyrum cristatum disomic substitution line 4844-8 and common wheat,and the disomic addition line 4844-12 and common wheat,were studied.Two intercalary translocation lines with a pair of small homozygous A.cristatum chromatin segments were identified with GISH respectively.The intercalary translocation line 104-3,with high thousand grain weight(TGW) was resistant to powdery mildew.The intercalary translocation line 19-2 was excellent for its high grain number per spike (GNPS) and high TGW.The excellent agronomic performances of these two lines indicated that they were elite genetic resources,and could be used to broaden the wheat genetic basis in the future.%远缘杂交技术是将小麦野生近缘植物的染色体片段导入小麦的有效途径.通过这种方法可以拓宽小麦的遗传基础,导入控制优异性状的基因,从而达到改良小麦的目的.为了获得在小麦遗传育种中具有较高研究利用价值的纯合小麦-冰草小片段异源染色体易位系,利用细胞学手段对普通小麦-冰草的远缘杂交后代进行鉴定.本研究以小麦-冰草二体代换系4844-8、二体附加系4844-12与普通小麦杂交后辐照产生的易位系为材料,利用基因组原位杂交(GISH)技术从中鉴定出2个具有冰草染色体小片段的纯合中间插入易位系,其中易位系104-3高抗小麦白粉病、高千粒重;易位系19-2具有较高的穗粒数和较

  6. Translocation detection in lymphoma diagnosis by split-signal FISH: A standardised approach

    NARCIS (Netherlands)

    A. van Rijk (Anke); D. Mason (David); M. Jones (Marta); J. Cabeçadas (José); E. Crespo; J.C. Cigudosa (Juan Cruz); J.F. Garcia (Juan Fernando); L. Leoncini (Lorenzo); M. Cocco (Mario); M.-L. Hansmann (Martin-Leo); A. Mottok (Anja); C.C. Bergman (Christiane Copie); M. Baia (Maryse); D. Anagnostou (Dimitra); E. Pouliou (Evi); N. Dutoit (Nadia); M.H. Christiansen (Mette Hjøllund); T.S. Poulsen (T.); S.H. Matthiesen (Steen Hauge); J.J.M. van Dongen (Jacques); J.H.J.M. van Krieken (Han)

    2008-01-01

    textabstractLymphomas originating from the lymphatic system comprise about 30 entities classified according to the World Health Organization (WHO). The histopathological diagnosis is generally considered difficult and prone to mistakes. Since non-random chromosomal translocations are specifically in

  7. Features of Turner's and DiGeorge's syndromes in a child with an X;22 translocation.

    OpenAIRE

    Pinto, M. R.; Leite, R P; Areias, A.

    1989-01-01

    We describe the clinical and cytogenetic findings in an infant who presented with the features of both Turner's and DiGeorge's syndromes associated with a unique translocation between chromosomes X and 22.

  8. Differential staining of interspecific chromosomes in somatic cell hybrids by alkaline Giemsa stain.

    Science.gov (United States)

    Friend, K K; Chen, S; Ruddle, F H

    1976-03-01

    Staining of chromosome preparations of Chinese hamster-human hybrid cells and mouse-chimpanzee hybrids with alkaline Giemsa has yielded color differentiation of the interspecific chromosomes. Bicolor chromosomes, indicating apparent translocations also are observed for each of these hybrids. The specific color differences observed provide a rapid means of recognizing and aiding in the identification of the interspecific chromosomes and apparent translocations in these somatic cell hybrids. PMID:1028166

  9. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10

    NARCIS (Netherlands)

    Arts, W F M; Hofstee, Y; Drejer, G F; Beverstock, G C; Oosterwijk, J C

    1995-01-01

    A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and mate

  10. Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations

    OpenAIRE

    Liu, Hong Yan; Huang, Jia; Li, Tao; Wu, Dong; Wang, Hong Dan; Wang, Yue; WANG, Tao; Guo, Liang Jie; Guo, Qian Nan; Huang, Fei Fei; Wang, Rui Li; Wang, Ying Tai

    2016-01-01

    Background Chromosomal abnormalities that result in genomic imbalances are main causes of congenital and developmental anomalies including intellectual disability and multiple congenital malformations. In this report we describe four patients from three families with imbalanced translocations. Only a small percentage of imbalanced translocation individuals can be born to live, most of them were aborted in embryonic period. It is of great significances to precisely analysis the chromosome vari...

  11. Application of Micro-Array Comparative Genomic Hybridization on Preimplantation Genetic Diagnosis for Chromosome Translocation%微阵列比较基因组杂交技术在染色体易位胚胎植入前遗传学诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    沈鉴东; 吴畏; 蔡令波; 谢佳孜; 马龙; 孙雪萍; 高超; 崔毓桂; 刘嘉茵

    2014-01-01

    Objective:To estimate the efficiency of preimplantation genetic diagnosis for reciprocal and Robertsonian translocations using the array comparative genomic hybridization (aCGH) technology. Methods:Cell biopsy was carried out on the cleavage-stage embryos (Day3). Single cell was firstly lysed and DNA amplified by whole genome amplification (WGA). WGA product was then processed by aCGH. Embryos with normal and balanced chromosomes were transferred. Results:Total of 90 cases of clinical PGD oocyte retrieval cycles included 58 cases of reciprocal balanced translocation and 32 cases of Robertsonian translocation. Total of 528 embryos were biopsied, of which 518(98.1%) embryos got the confirmed diagnoses. Single embryo transfer was adopted with the clinical ongoing pregnancy rate of 46.8%. The ongoing pregnancy rate of the reciprocal balanced translocation in fresh cycles was 38.7%, and that in freezed cycles 45.0%. The Robertsonian translocation pregnancy rate in freezed cycles was 61.5%. Conclusions:Application of aCGH in the reciprocal and Robertsonian translocation PGD can obviously improve clinical outcomes.%目的:评估微阵列比较基因组杂交(aCGH)技术在染色体相互平衡易位和罗氏易位胚胎植入前遗传学诊断(PGD)中的应用效果。方法:卵裂期胚胎活检单个卵裂球,用于全基因组扩增后,利用aCGH技术进行染色体组拷贝数变异检测,选择染色体平衡的胚胎移植,随访跟踪临床结局。结果:90例临床PGD取卵周期中,相互平衡易位58例,罗氏易位32例,共活检卵裂期胚胎528枚,明确诊断518枚(98.1%),总体单胚胎移植临床持续妊娠率46.8%。其中,相互平衡易位新鲜周期移植持续妊娠率38.7%,冷冻周期持续妊娠率45.0%;罗氏易位冷冻周期持续妊娠率61.5%。结论:aCGH技术在染色体易位PGD中应用能够获得理想的临床妊娠结局。

  12. Translocation junctions in TCF3-PBX1 acute lymphoblastic leukemia/lymphoma cluster near transposable elements

    OpenAIRE

    Rodić, Nemanja; Zampella, John G; Toby C Cornish; Sarah J Wheelan; Burns, Kathleen H.

    2013-01-01

    Background Hematolymphoid neoplasms frequently harbor recurrent genetic abnormalities. Some of the most well recognized lesions are chromosomal translocations, and many of these are known to play pivotal roles in pathogenesis. In lymphoid malignancies, some translocations result from erroneous V(D)J-type events. However, other translocation junctions appear randomly positioned and their underlying mechanisms are not understood. Results We tested the hypothesis that genomic repeats, including ...

  13. Meiotic behaviour and spermatogenesis in male mice heterozygous for translocation types also occurring in man

    International Nuclear Information System (INIS)

    In this thesis a start was made with meiotic observations of mouse translocation types - a Robertsonian translocation and a translocation between a metacentric and an acrocentric chromosome - which also occur in man. As an exogeneous factor of possible influence, the meiotic effects of two types of radiation (fission neutrons and X-rays) administered at relatively low doses 2 and 3 hours before prometaphase-metaphase II (probably during metaphase-anaphase I), were determined in Rb4Bnr/+-males. (Auth.)

  14. Balanced translocation (14;20) in a mentally handicapped child with cystinuria.

    OpenAIRE

    Sharland, M.; Jones, M.; Bain, M.; Chalmers, R; Hammond, J; Patton, M A

    1992-01-01

    A mentally handicapped 3 year old child with cystinuria is presented. Routine chromosomal analysis showed an apparently balanced de novo translocation in the child with breakpoints 14q22 and 20p13. Family studies suggested that the child is a type I/type II compound heterozygote for cystinuria. This translocation may indicate a possible locus for the gene for cystinuria.

  15. Molecular characterization of translocation (6;9) in acute nonlymphocytic leukemia

    NARCIS (Netherlands)

    M.M. von Lindern (Marieke)

    1992-01-01

    textabstractSpecific chromosomal translocations are one of the defects associated with leukemia. Isolation and characterization of genes affected by these translocations may give insight into the processes of both leukemogenesis and normal hematopoiesis. When the experiments described in this thesis

  16. 染色体平衡易位46,XY,t(4;7)(q21;p15)致生长激素缺乏症的临床综合分析%Aggregate clinical analysis of growth hormone deficiency caused by balanced chromosomal translocation of 46, XY, t (4; 7) (q21; p15)

    Institute of Scientific and Technical Information of China (English)

    田莉; 李黎; 杜艳; 陈萍; 沈长新; 张建武

    2012-01-01

    目的 探讨平衡易位携带者对子代的影响.方法 患者及家系成员外周血淋巴细胞常规培养制备染色体,进行核型分析.对患者进行复合刺激试验,采用化学发光法检测生长激素(GH)、促卵泡生成素( FSH)和促黄体生成激素(LH)水平,同时检测其他代谢相关生化指标及相关影象检查.结果 患者核型为46,XY,t(4; 7) (q21; p15),患者母亲核型为46,XX,t(4;7) (q21; p15),其他成员核型正常.患者复合刺激试验示GH分泌反应低下,FSH、LH反应 正常,血清胰岛素样生长因子-Ⅰ (IGF-1)、胰岛素样生长因子结合蛋白-3(IGFBP -3)、促肾上腺皮质激素(ACTH)、硫酸去氢表雄酮( DHEA -S)、总睾酮(T)低于参考范围的下限.骨龄11岁,垂体MRI排除脑组织异常.结论 患者的异常表型是由于生长激素缺乏所致,常染色体平衡易位可致子代生长激素缺乏症.%Objective: To investigate the influence of Balanced Chromosomal Translocation Carriers to the filial generation. Methods: The Chromosome was extracted from the peripheral blood lymphocyte of the patient and the family members, karyotype analysis were performed. Compound stimulation experiment was performed on the patient, the expression level of GH, FSH, and LF were detected using chemiluminescence, the expression of some other metabolism related biochemical indicators and image analysis were also performed. Results-. The karyotype of the patient and his mother is 46, XY, t (4;7) (q21;p15) and46, XX, t (4; 7) (q21; pl5) respectively, whereas the karyotypes are normal in the other family members. Compound stimulation experiment showed that in the patient, GH secretion respond is lower, whereas the level of FSH, LH are normal. IGF - 1, IGFBP - 3, ACTH, andrusol, DHEA - S and testosterone are lower than the low limit of reference scope. Bone age is eleven. Brain abnomal was excluded by hypophysis MRI. Conclusion: the abnormal phenotype was due to growth hormone deficiency. We

  17. Dynamics of forced biopolymer translocation

    CERN Document Server

    Lehtola, V V; Kaski, K; 10.1209/0295-5075/85/58006

    2009-01-01

    We present results from our simulations of biopolymer translocation in a solvent which explain the main experimental findings. The forced translocation can be described by simple force balance arguments for the relevant range of pore potentials in experiments and biological systems. Scaling of translocation time with polymer length varies with pore force and friction. Hydrodynamics affects this scaling and significantly reduces translocation times.

  18. The role of the Philadelphia translocation in chronic myeloid leukemia

    NARCIS (Netherlands)

    A.H.M. Geurts van Kessel (Ad)

    1983-01-01

    textabstractDuring the last two decades evidence for a close association between the presence of specific chromosomal abnormalities and the occurrence of several types of cancers and leukemias has accumulated. The Philadelphia (Ph 1) translocation, present in about 90% of the patients with chronic m

  19. Cytological, genetic and agronomic characterization of a barley reciprocal translocation

    NARCIS (Netherlands)

    Farré Martinez, A.

    2012-01-01

    Reciprocal translocations (RT) are one of the most common structural chromosomal rearrangements occurring in plant species. Spontaneous RT are extremely uncommon in cultivated barley. In fact, ‘Albacete’ is the only extensively cultivated barley variety known to carry a RT without any ma

  20. Genetic counseling in carriers of reciprocal translocations involving two autosomes

    Directory of Open Access Journals (Sweden)

    Bahareh Pourjafari

    2012-01-01

    Couples in which one partner is the carrier of such balanced translocation have increased risks of infertility, recurrent abortion, and delivery of chromosomally abnormal offspring. Genetic counseling of such couples, therefore, presents a unique challenge and should be considered in dealing with such families.

  1. Balanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report

    OpenAIRE

    Zarifian, Ahmadreza; Farhoodi, Zeinab; Amel, Roya; Mirzaee, Salmeh; Hassanzadeh-Nazarabadi, Mohammad

    2012-01-01

    One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16; 6) (p12; q26) and 46, XY, t (16; 6) (p12; q26) in both partners, which induced such pregnancy complications. Chromosomal ...

  2. Familial C/G Translocation in Three Relatives Associated with Severe Mental Retardation, Short Stature, Unusual Dermatoglyphics and Other Malformations

    Science.gov (United States)

    Yanagisawa, S.; Hiraoka, K.

    1971-01-01

    Three case studies of patients (relatives) suffering from a chromosomal aberration (translocation between one of the C group chromosomes and one of the G group chromosomes) resulting in severe mental retardation and skin malformations are reported. It was suggested that the anomaly is hereditary in nature (CD)

  3. Clinicopathology and Immunohistochemistry Comparative Study between Chromosomal Translocation-Associated and Nontranslocation-Associated Soft Tissue Sarcomas%染色体易位相关与非相关软组织肉瘤临床病理与免疫组化的研究

    Institute of Scientific and Technical Information of China (English)

    刘春霞; 李锋; 陈云昭; 李新霞; 胡文浩; 常彬; 庞丽娟; 齐妍; 李洪安; 蒋金芳

    2010-01-01

    对染色体易位相关软组织肉瘤(chromosomal translocation-associated sarcomas,CTASs)与染色体易位非相关软组织肉瘤(chromosomal translocation-nonassociated sarcomas,CTNASs)在临床病理组织学和免疫组织化学方面的不同特点进行初步观察和比较.回顾性分析108例CTASs与CTNASs的临床病理组织与细胞形态学特点,同时采用免疫组织化学Envision法检测EGFR、HER-2、CD117、P53、MDM2蛋白的表达和分布.结果显示,本组108例软组织肉瘤中,CTASs患者发病年龄(平均约29.2岁)较CTNASs患者发病年龄(平均约44.7岁)小.形态学上,CTASs多以小圆形细胞为主型(53.8%)和梭形细胞为主型(46.2%)居多,而CTNASs则以多型性细胞为主(51.2%).免疫组织化学染色显示,CTASs与CTNASs中P53、MDM2、HER-2、CD117、EGFR蛋白的阳性表达率分别为75.4%和72.1%、16.9%和41.9%、12.3%和9.3%、4.6%和0、23.1%和11.6%.经卡方检验,MDM2在CTASs与CTNASs中的表达差异有显著性,提示MDM2可能在CTNASs发病机制中扮演重要的角色.

  4. Trisomy greatly enhances interstitial crossing over in a translocation heterozygote of Secale

    NARCIS (Netherlands)

    Sybenga, J.; Verhaar, H.M.; Botje, D.G.A.

    2012-01-01

    Chromosomal rearrangements, including reciprocal translocations, may prevent recombinational transfer of genes from a donor genotype to a recipient, especially when the gene is located in an interstitial segment. The effect of trisomy of chromosome arm 1RS on recombination was studied in translocati

  5. Tourette syndrome in a pedigree with a 7;18 translocation: Identification of a YAC spanning the translocation breakpoint at 18q22.3

    Energy Technology Data Exchange (ETDEWEB)

    Boghosian-Sell, L.; Overhauser, J. [Thomas Jefferson Univ., Philadelphia, PA (United States); Comings, D.E. [City of Hope Medical Center, Duarte, CA (United States)

    1996-11-01

    Tourette syndrome is a neuropsychiatric disorder characterized by the presence of multiple, involuntary motor and vocal tics. Associated pathologies include attention deficit disorder and obsessive-compulsive disorder (OCD). Extensive linkage analysis based on an autosomal dominant mode of transmission with reduced penetrance has failed to show linkage with polymorphic markers, suggesting either locus heterogeneity or a polygenic origin for Tourette syndrome. An individual diagnosed with Tourette syndrome has been described carrying a constitutional chromosome translocation. Other family members carrying the translocation exhibit features seen in Tourette syndrome including motor tics, vocal tics, and OCD. Since the disruption of specific genes by a chromosomal rearrangement can elicit a particular phenotype, we have undertaken the physical mapping of the 7;18 translocation such that genes mapping at the site of the breakpoint can be identified and evaluated for a possible involvement in Tourette syndrome. Using somatic cell hybrids retaining either the der(7) or the der(18), a more precise localization of the breakpoints on chromosomes 7 and 18 have been determined. Furthermore, physical mapping has identified two YAC clones that span the translocation breakpoint on chromosome 18 as determined by FISH. These YAC clones will be useful for the eventual identification of genes that map to chromosomes 7 and 18 at the site of the translocation. 41 refs., 3 figs., 1 tab.

  6. Insertional translocations: report of two new families and review of the literature.

    Science.gov (United States)

    Abuelo, D N; Barsel-Bowers, G; Richardson, A

    1988-10-01

    We describe two families with insertional translocations. In the first, a large family ascertained because of repeated pregnancy loss, the insertional translocation, ins(1;3)(q32;p13pter), was found to be segregating through three generations. In the second family, ascertained through a proposita with congenital malformations, multiple spontaneous abortions also occurred. The father had an insertional translocation, inv 4(p14,q21.1)ins(7,4)(q32;q21.1 q23). These cases illustrate that recurrent fetal wastage may be caused by insertional translocations and in fact may be the only clinical manifestation of this unusual type of chromosome rearrangement.

  7. Chromosome painting in biological dosimetry: Semi-automatic system to score stable chromosome aberrations

    International Nuclear Information System (INIS)

    From the beginning of the description of the procedure of chromosome painting by fluorescence in situ hybridization (FISH), it was thought its possible application to score induced chromosomal aberrations in radiation exposition. With chromosome painting it is possible to detect changes between chromosomes that has been validated in radiation exposition. Translocation scoring by FISH, contrarily to the unstable dicentrics, mainly detect stable chromosome aberrations that do not disappear, it allows the capability of quantify delayed acute expositions or chronic cumulative expositions. The large number of cells that have to be analyzed for high accuracy, specially when dealing with low radiation doses, makes it almost imperative to use an automatic analysis system. After validate translocation scoring by FISH in our, we have evaluated the ability and sensitivity to detect chromosomal aberrations by chromosome using different paint probes used, showing that any combination of paint probes can be used to score induced chromosomal aberrations. Our group has developed a FISH analysis that is currently being adapted for translocation scoring analysis. It includes systematic error correction and internal control probes. The performance tests carried out show that 9,000 cells can be analyzed in 10 hr. using a Sparc 4/370. Although with a faster computer, a higher throughput is expected, for large population screening or very low radiation doses, this performance still has to be improved. (author)

  8. A clinical study of chromosome translocations in extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue in Chinese patients%中国人黏膜相关淋巴组织结外边缘区淋巴瘤染色体易位的临床研究

    Institute of Scientific and Technical Information of China (English)

    董格红; 冯振博; 高子芬; 叶洪涛; 王桂秋; 宫丽平; 王晋芬; 莫祥兰; 刘红刚; 董丽娜; 周英琼; 张雪梅

    2009-01-01

    Objective To investigate the genetic aberrations in extranodal marginal zone lymphoma of mueosa-associated lymphoid tissue (MALT) lymphomas from different sites of the body in Chinese patients. Methods Two hundred and seventeen paraffin-embedded MALT lymphoma specimens from 11 major sites were studied with interphase fluorescence in situ hybridization (FISH) to detect t(11; 18) (q21;q21)/API2-MALT1, t(1; 14) (p22; q32)/IGH-BCL10, (14; 18) (q32; q21)/IGH-MALT1 and BCL6 gene involved chromosome translocations. Results These translocations were mutually exclusive and detected in 21% (46/217) of the cases, including t(11;18) (q21;q21) API2-MALT1 13% (29/217), t (1;14)(p22 ;q32) IGH-BCLIO in 1% (3/217), t(14;18) (q32;q21) IGH-MALT1 1% (2/217), BCL6 involved translocation in 2% (4/217) and IGH-unknown translocation partner in 4% (8/217). t(11; 18) (q21;q21)API2-MALT1 was found with the highest frequency in MALT lymphoma from lungs (47% , 8/17) and small intestine (29%, 4/14), followed by salivary gland (17%, 1/6), stomach (14%, 12/84) and ocular adnexae (6% , 4/68). t(1 ;14) (p22;q32) was only detected in lungs (12%, 2/17) and stomach (1%, 1/84). t(14;18) (q32;q21) was mainly detected in lungs (6%, 1/17) and ocular adnexae (2%, 1/68). BCL6 gene involved translocation was detected in salivary gland (17% , 1/6) and stomach (4%, 3/84). Conclusions It is demonstrated that the four translocatidns occur with markedly variable frequencies in MALT lymphoma of different sites in Chinese patients. The distributions of these chromosome translocations in Chinese patients are slightly different from those reported in western patients.%目的 探讨中国人不同部位黏膜相关淋巴组织结外边缘区淋巴瘤(MALTL)中分子遗传学异常的发生情况.方法 应用间期荧光原位杂交(FISH)方法,检测217例不同部位MALTL的t(11;18)(q21;q21)/API2-MALT1、t(1;14)(p22;q32)/IGH-BCL10、t(14;18)(q32;q21)/IGH-MALT1和涉及BCL6基因的染色体易位.结果 染色

  9. Acute myeloid leukemia with the 8q22;21q22 translocation: secondary mutational events and alternative t(8;21) transcripts

    OpenAIRE

    Peterson, Luke F.; Boyapati, Anita; Ahn, Eun-Young; Biggs, Joseph R.; Okumura, Akiko Joo; Lo, Miao-Chia; Yan, Ming; Zhang, Dong-Er

    2007-01-01

    Nonrandom and somatically acquired chromosomal translocations can be identified in nearly 50% of human acute myeloid leukemias. One common chromosomal translocation in this disease is the 8q22;21q22 translocation. It involves the AML1 (RUNX1) gene on chromosome 21 and the ETO (MTG8, RUNX1T1) gene on chromosome 8 generating the AML1-ETO fusion proteins. In this review, we survey recent advances made involving secondary mutational events and alternative t(8;21) transcripts in relation to unders...

  10. Sequence-specific assembly of FtsK hexamers establishes directional translocation on DNA

    OpenAIRE

    Graham, James E.; Sherratt, David J.; Szczelkun, Mark D.

    2010-01-01

    FtsK is a homohexameric, RecA-like dsDNA translocase that plays a key role in bacterial chromosome segregation. The FtsK regulatory γ-subdomain determines directionality of translocation through its interaction with specific 8 base pair chromosomal sequences [(KOPS); FtsK Orienting / Polarizing Sequence(s)] that are cooriented with the direction of replication in the chromosome. We use millisecond-resolution ensemble translocation and ATPase assays to analyze the assembly, initiation, and tra...

  11. Oncogene Translocations and NHL

    Science.gov (United States)

    A colloboration with several large population-based cohorts to determine whether the prevalence or level of t14;18 is associated with risk of NHL and to investigate the clonal relationship between translocation-bearing cells and subsequent tumors

  12. Genetic effects of wheat-Haynaldia villosa chromosome T6VS.6AL translo-cation based on advanced sib-line groups%基于高代姊妹系组群研究小麦-簇毛麦染色体 T6 VS .6 AL易位的遗传效应

    Institute of Scientific and Technical Information of China (English)

    别同德; 高德荣; 张晓; 庄丽芳; 赵仁慧; 陈甜甜; 张伯桥

    2015-01-01

    In order to elucidate the genetic effects of wheat⁃Haynaldia villosa chromosome T6VS.6AL translocation for its application in wheat breeding, advanced sib⁃lines derived from the primitive seeds of Yangmai18 for variety regional test, were grouped according to powdery mildew resistance. Comparison between the resistant and susceptible groups was performed on major agronomic and quality traits. The results showed that T6VS.6AL has significantly positive effects on kernel weight, plant height, and spike length at the 0�01 level. It has significantly positive effect on spikelet number per spike and negative effect on spikelet density, at the 0.05 and 0.01 levels, respectively. It has no significant effect on kernel number per plant, kernel number per spike, tiller number per plant, and yield. Furthermore, T6VS.6AL has no effect on wheat quality general⁃ly. Based on the above results, it is concluded that sib line groups are valuable materials for precisely evaluating genetic effects of a certain chromosomal segment. Dwanf or medium⁃height stem, high⁃yielding and widely adaptable wheat varieties carrying translocated chromosome T6VS. 6AL are suggested to be used as the last recurrent parent during roll⁃ing convergent backcross.%为了解小麦⁃簇毛麦抗白粉病易位染色体T6VS.6AL的遗传效应以更好地将其用于小麦品种选育,对扬麦18原始区域试验种子衍生的抗白粉病姊妹系、感白粉病姊妹系组群进行主要农艺和品质性状的比较。结果表明:T6VS.6AL易位对小麦的千粒质量、株高和穗长有极显著正向效应,对每穗小穗数呈显著正向效应,对小穗密度呈极显著负向效应,对单株总粒数、每穗粒数、单株穗数、株系产量没有显著影响;T6VS.6AL易位总体上对小麦品质没有影响。综上所述,高代姊妹系组群是准确评价特定染色体区段遗传效应的宝贵材料,在利用T6VS.6AL易位系进行滚

  13. Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles?

    Directory of Open Access Journals (Sweden)

    Elsbeth Dul

    2014-04-01

    Full Text Available Translocation carriers have an increased risk of miscarriage or the birth of a child with congenital anomalies. Preimplantation genetic diagnosis (PGD is performed in translocation carriers to select for balanced embryos and, thus, increase the chance of an ongoing pregnancy. However, a common experience is that reciprocal translocation carriers produce a high percentage of unbalanced embryos, which cannot be transferred. Therefore, the pregnancy rates in PGD in this patient group are low. In a cohort of 85 reciprocal translocation carriers undergoing PGD we have searched for cytogenetic characteristics of the translocations that can predict the percentage of balanced embryos. Using shape algorithms, the most likely segregation mode per translocation was determined. Shape algorithm, breakpoint location, and relative chromosome segment sizes proved not to be independent predictors of the percentage of balanced embryos. The ratio of the relative sizes of the translocated segments of both translocation chromosomes can give some insight into the chance of transferable embryos: Very asymmetrical translocations have a higher risk of unbalanced products (p = 0.048. Counseling of the couples on the pros and cons of all their reproductive options remains very important.

  14. Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days

    OpenAIRE

    Mei Wang; Adolf Baumgartner; Weier, Jingly F.; Johnson Kwan; Chun-Mei Lu; Tomas Escudero; Santiago MunnĂŠ; Weier, Heinz-Ulrich G.

    2009-01-01

    Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or disease, impaired chromosome homologue pairing in meiosis and karyokinesis errors lead to over-representation of translocations carriers in the infertile population and in recurrent pregnancy loss patients. At present, clinicians have no means to sele...

  15. Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy.

    Science.gov (United States)

    Tuysuz, B; Yavuz, A; Ozdil, M; Caferler, J; Ozon, H

    2010-01-01

    We describe a girl with microcephaly, short stature, coarse face, severe growth and developmental delay, seizures, hypertonia, bilateral flexion contractures of the knees, and a de novo 21;21 translocation trisomy 21 in peripheral blood lymphocytes. Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation using whole chromosome painting probe 21 (WCP21). Chromosome analysis which was also performed on skin fibroblasts and revealed mosaicism for a translocation trisomy 21 cell line (22.3%) as well as a second cell line consisting of one normal chromosome 21 and a small ring chromosome 21 derived from the translocation 21q21q (61%) and a third line consisting of monosomy 21 (16.7%). FISH analyses by LS121 probe for the critical (21q22.2-22.3) region of Down syndrome (DS) on interphase blood cells resulted with 30% two signals and 70% three signals, skin fibroblasts showed 84% single signal, 9% two signals and 7% three signals. The size of ring chromosome 21 in skin fibroblasts was very small and probably there was a large, more proximally located deletion including chromosome 21q22 band. We consider that the atypical DS phenotype of the patient originated from the small ring chromosome 21 and the monosomy 21 in the skin fibroblasts and other tissues not available for analysis. Therefore, the clinical findings of the patient were most similar to monosomy 21 mosaicism syndrome. PMID:20420031

  16. Filament depolymerization can pull a chromosome during bacterial mitosis

    Science.gov (United States)

    Banigan, Edward; Gelbart, Michael; Gitai, Zemer; Liu, Andrea; Wingreen, Ned

    2011-03-01

    Chromosome segregation is fundamental to all cells, but the force-generating mechanisms underlying chromosome translocation in bacteria remain mysterious. Caulobacter crescentus utilizes a depolymerization-driven process in which a ParA protein structure elongates from the new cell pole and binds to a ParB-decorated chromosome, and then retracts via disassembly, thus pulling the chromosome across the cell. This poses the question of how a depolymerizing structure can robustly pull the chromosome that is disassembling it. We perform Brownian dynamics simulations with a simple and physically consistent model of the ParABS system. The simulations suggest that the mechanism of translocation is ``self-diffusiophoretic'': by disassembling ParA, ParB generates a ParA concentration gradient so that the concentration of ParA is higher in front of the chromosome than behind it. Since the chromosome is attracted to ParA via ParB, it moves up the ParA gradient and across the cell. We find that translocation is controlled by the product of an effective relaxation time for the chromosome and the rate of ParA disassembly. Our results provide a physical explanation of the mechanism of depolymerization-driven translocation and suggest physical explanations for recent experimental observations.

  17. Visualizing how cancer chromosome abnormalities form in living cells

    Science.gov (United States)

    For the first time, scientists have directly observed events that lead to the formation of a chromosome abnormality that is often found in cancer cells. The abnormality, called a translocation, occurs when part of a chromosome breaks off and becomes attac

  18. Irradiation induced wheat-alien translocation lines and their application in wheat breeding

    International Nuclear Information System (INIS)

    Wild relatives are rich gene resources for wheat improvement. Transfer of alien useful genes to wheat through development of wheat-alien translocations, especially small alien segment translocations, is important for wheat breeding. Wheat-alien genetic stocks such as amphiploid, addition or substitution lines were irradiated for translocation induction. Mature male or female gametes before flowering on the spikes were irradiated by 60Co-γ-rays at doses ranged from 8 to 22.4Gy. Chromosome C-banding and genomic in situ hybridization (GISH) were used to identify chromosome translocation. Backcross of M1 plants using normal fresh pollen of common wheat was employed to enhance the transmission rate of various structural changes in their progenies. The results showed that the dose of 8∼12Gy was suitable for pollen irradiation while 15∼20Gy was suitable for female-gamete irradiation. Irradiation treatment just before gamete maturation is advantageous to acquisition of more M1 hybrids with high frequency of chromosome structural variation. The frequency of plants with at least one translocation chromosome in M1 could be increased up to 70% through pollen irradiation of Triticum durum-Haynaldia villosa amphiploid. More than one hundred translocated chromosomes have been identified in the BC1 and BC2. 57 terminal and 80 intercalary translocations with small alien chromosome segments were induced through female-gamete irradiation conducted on T.aestivum-H.villosa 6VS/6AL translocation line. For the 22.4Gy dosage treatment, the induction frequencies of interstitial translocation, terminal translocation and deletion were 21.02%, 14.01%, and 14.65%, respectively, which were much higher than that previously reported. These genetic stocks will be useful for physical mapping of alien genes such as Pm21. Some compensate translocations conveying useful agronomic traits would be useful in wheat breeding. The T.aestivum-H.villosa 6VS/6AL translocation has been used in wheat

  19. Three way translocation in a new variant of t(8;21 acute myeloid leukemia involving Xp22

    Directory of Open Access Journals (Sweden)

    Vundinti B

    2008-01-01

    Full Text Available The t(8;21(q22;q22 is one of the most frequent chromosomal abnormality associated with acute myeloid leukemia (AML M2 sub type. The additional chromosomal abnormalities including structural and numerical are frequently reported with the translocation, t (8;21(q22;q22. We report a case of AML-M2 with t(X;8;21(p22;q22;q22 associated with loss of Y chromosome. Using a dual color fluorescence in situ hybridization (FISH analysis with ETO and AML1 probes, we demonstrated an ETO/AML1 fusion signal on the derivative chromosome 8 and one ETO signal on derivative Chromosome Xp22. The patient did not respond to therapy and follow-up of cytogenetics revealed same chromosome abnormality. Hence, this three way translocation involving X chromosome might be associated with poor prognosis.

  20. Filament depolymerization can explain chromosome pulling during bacterial mitosis.

    Directory of Open Access Journals (Sweden)

    Edward J Banigan

    2011-09-01

    Full Text Available Chromosome segregation is fundamental to all cells, but the force-generating mechanisms underlying chromosome translocation in bacteria remain mysterious. Caulobacter crescentus utilizes a depolymerization-driven process in which a ParA protein structure elongates from the new cell pole, binds to a ParB-decorated chromosome, and then retracts via disassembly, pulling the chromosome across the cell. This poses the question of how a depolymerizing structure can robustly pull the chromosome that disassembles it. We perform Brownian dynamics simulations with a simple, physically consistent model of the ParABS system. The simulations suggest that the mechanism of translocation is "self-diffusiophoretic": by disassembling ParA, ParB generates a ParA concentration gradient so that the ParA concentration is higher in front of the chromosome than behind it. Since the chromosome is attracted to ParA via ParB, it moves up the ParA gradient and across the cell. We find that translocation is most robust when ParB binds side-on to ParA filaments. In this case, robust translocation occurs over a wide parameter range and is controlled by a single dimensionless quantity: the product of the rate of ParA disassembly and a characteristic relaxation time of the chromosome. This time scale measures the time it takes for the chromosome to recover its average shape after it is has been pulled. Our results suggest explanations for observed phenomena such as segregation failure, filament-length-dependent translocation velocity, and chromosomal compaction.

  1. Numerical and structural chromosome aberrations in cauliflower (Brassica oleracea var. botrytis) and Arabidopsis thaliana

    OpenAIRE

    Ji, X.

    2014-01-01

    Numerical and structural chromosome aberrations in cauliflower (Brassica oleracea var. botrytis) and Arabidopsis thaliana. I studied numerical and structural chromosome aberrations in cauliflower (Brassica oleracea var. botrytis) and Arabidopsis thaliana. The large genomic changes are important for gene balance control, gene expression and regulation, and may affect the plant’s phenotype. Moreover, chromosome changes, in particular polyploidy, inversions and translocations play a signif...

  2. Patterns of replication in the neo-sex chromosomes of Drosophila nasuta albomicans

    Indian Academy of Sciences (India)

    G Mahesh; N B Ramachandra; H A Ranganath

    2000-09-01

    Drosophila nasuta albomicans (with 2n = 6), contains a pair of metacentric neo-sex chromosomes. Phylogenetically these are products of centric fusion between ancestral sex (X, Y) chromosomes and an autosome (chromosome 3). The polytene chromosome complement of males with a neo-X- and neo-Y-chromosomes has revealed asynchrony in replication between the two arms of the neo-sex chromosomes. The arm which represents the ancestral X-chromosome is faster replicating than the arm which represents ancestral autosome. The latter arm of the neo-sex chromosome is synchronous with other autosomes of the complement. We conclude that one arm of the neo-X/Y is still mimicking the features of an autosome while the other arm has the features of a classical X/Y-chromosome. This X-autosome translocation differs from the other evolutionary X-autosome translocations known in certain species of Drosophila.

  3. Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Arn, P.H.; Younie, L.; Russo, S. [Nemours Children`s Clinic, Jacksonville, FL (United States)] [and others

    1995-07-03

    We describe 3 families segregating for a translocation of the nucleolus organizer region (NOR) onto chromosome 4. Review of previously reported cases of translocations involving NOR and chromosome 4 shows that these translocations may be associated with variable reproductive outcomes. We provide evidence that imprinting is not the mechanism responsible for the variable reproductive outcomes in the case of satellited 4p chromosomes; this may offer indirect support for a ribosomal gene position effect. Translocated ribosomal genes may influence the expression of neighboring genes and could explain the variable phenotypes in individuals with satellited nonacrocentric chromosomes. We recommend that prenatal counseling of individuals with satellited nonacrocentric chromosomes should be cautious. 23 refs., 2 figs., 1 tab.

  4. Evaluating Translocation Gene Fusions by SNP Array Data

    OpenAIRE

    Hong Liu; Asher Zilberstein; Pascal Pannier; Frederic Fleche; Christopher Arendt; Christoph Lengauer; Chang S Hahn

    2011-01-01

    Somatic cell genetic alterations are a hallmark of tumor development and progression. Although various technologies have been developed and utilized to identify genetic aberrations, identifying genetic translocations at the chromosomal level is still a challenging task. High density SNP microarrays are useful to measure DNA copy number variation (CNV) across the genome. Utilizing SNP array data of cancer cell lines and patient samples, we evaluated the CNV and copy number breakpoints for seve...

  5. Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation

    Directory of Open Access Journals (Sweden)

    Usha R Dutta

    2012-01-01

    Full Text Available Aim: To report two patients with recurrent miscarriages and unique reciprocal X-autosomal translocation. Materials and Methods: Cytogenetic analysis was performed using G-banding and Molecular cytogenetic analysis by Fluorescence in situ hybridization to confirm the breakpoint regions. Results: The chromosomal analysis of the two cases revealed a karyotype of 46,X,t(X;22(p11.21;q13.3 in the first patient and 46,X,t(X;2(q22;q13 in second patient. Both the cases were confirmed by using whole chromosome paint probes. Conclusions: This is the rare report of X-autosomal translocations with unique breakpoint regions and their association with recurrent miscarriages. The translocation breakpoint in case 2 on Xq22 and on Xp11.21 in case 1 might be a risk factor for recurrent miscarriages. Here the impact of the X-autosomal translocations is discussed.

  6. Wnt signaling induces transcription, spatial proximity, and translocation of fusion gene partners in human hematopoietic cells.

    Science.gov (United States)

    Ugarte, Giorgia D; Vargas, Macarena F; Medina, Matías A; León, Pablo; Necuñir, David; Elorza, Alvaro A; Gutiérrez, Soraya E; Moon, Randall T; Loyola, Alejandra; De Ferrari, Giancarlo V

    2015-10-01

    Chromosomal translocations are frequently associated with a wide variety of cancers, particularly hematologic malignancies. A recurrent chromosomal abnormality in acute myeloid leukemia is the reciprocal translocation t(8;21) that fuses RUNX1 and ETO genes. We report here that Wnt/β-catenin signaling increases the expression of ETO and RUNX1 genes in human hematopoietic progenitors. We found that β-catenin is rapidly recruited into RNA polymerase II transcription factories (RNAPII-Ser5) and that ETO and RUNX1 genes are brought into close spatial proximity upon Wnt3a induction. Notably, long-term treatment of cells with Wnt3a induces the generation a frequent RUNX1-ETO translocation event. Thus, Wnt/β-catenin signaling induces transcription and translocation of RUNX1 and ETO fusion gene partners, opening a novel window to understand the onset/development of leukemia. PMID:26333776

  7. Correlation of chromosome patterns in human leukemic cells with exposure to chemicals and/or radiation

    International Nuclear Information System (INIS)

    This project seeks to defining the chromosome segments associated with radiation induced leukemogenesis (treatment-related acute myeloid leukemia, or t-AML). Towards these goals genetic analysis of human chromosomes 5 and 7 continues to investigate correlation of treatment with balanced and unbalanced chromosomal translocations. Progress is being made in cloning the breakpoints in balanced translocations in t-AML, that is to clone the t(9;11) and t(11;19) breakpoints, to clone the t(3;21)(q26;q22) breakpoints and to determine the relationship of these translocations to prior exposure to topoisomerase II inhibitors. 11 figs. 3 figs

  8. Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature.

    Science.gov (United States)

    Orrico, Alfredo; Marseglia, Giuseppina; Pescucci, Chiara; Cortesi, Ambra; Piomboni, Paola; Giansanti, Andrea; Gerundino, Francesca; Ponchietti, Roberto

    2016-01-01

    Chromosomal defects are relatively frequent in infertile men however, translocations between the Y chromosome and autosomes are rare and less than 40 cases of Y-autosome translocation have been reported. In particular, only three individuals has been described with a Y;21 translocation, up to now. We report on an additional case of an infertile man in whom a Y;21 translocation was associated with the deletion of a large part of the Y chromosome long arm. Applying various techniques, including conventional cytogenetic procedures, fluorescence in situ hybridisation (FISH) analysis and array comparative genomic hybridization (array-CGH) studies, we identified a derivative chromosome originating from a fragment of the short arm of the chromosome Y translocated on the short arm of the 21 chromosome. The Y chromosome structural rearrangement resulted in the intactness of the entire short arm, including the sex-determining region Y (SRY) and the short stature homeobox (SHOX) loci, although translocated on the 21 chromosome, and the loss of a large part of the long arm of the Y chromosome, including azoospermia factor-a (AZFa), AZFb, AZFc and Yq heterochromatin regions. This is the first case in which a (Yp;21p) translocation has been ascertained using an array-CGH approach, thus reporting details of such a rearrangement at higher resolution.

  9. Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21

    DEFF Research Database (Denmark)

    McGinniss, M J; Kazazian, H H; Stetten, G;

    1992-01-01

    ), resulting in deletion of varying amounts of 21q22.1 to 21qter. The data from one individual who had a Down syndrome phenotype were consistent with asymmetric breakage and reunion of 21q sequences from an intermediate isochromosome or Robertsonian translocation chromosome as reported by Wong et al. Another...

  10. Chromosome abnormalities in Japanese Burkitt lymphoma cell lines.

    Directory of Open Access Journals (Sweden)

    Hamasaki,Kazuhide

    1982-02-01

    Full Text Available Six established Japanese Burkitt lymphoma (BL cell lines including one case with null cell type were studied by chromosomal banding techniques. The modal chromosome number was diploid or nearly diploid in five cases and hyperdiploid in one case. The marker chromosome 14q+ was observed in four of the six cases; the origin of the extra band was a chromosome 8 in three including the null cell case but could not be identified in the other. The two cases lacking the 14q+ marker had variant translocations involving the long arm of chromosome 8, one of which carried a translocation, t(8;22 (q24;q13 and the other a translocation, t(2;8 (p12;q24. Although structural and/or numerical aberrations were found in all six cell lines, chromosome 8 was the one most consistently involved. This frequent involvement of chromosome 8 in aberrations; therefore, may be an important event in the development of BL rather than the presence of a 14q+ marker chromosome.

  11. Exceptional Complex Chromosomal Rearrangements in Three Generations

    Directory of Open Access Journals (Sweden)

    Hannie Kartapradja

    2015-01-01

    Full Text Available We report an exceptional complex chromosomal rearrangement (CCR found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

  12. Premature ovarian failure in a woman with a balanced 15;21 translocation: a case report

    Directory of Open Access Journals (Sweden)

    Asgari Zahra

    2011-06-01

    Full Text Available Abstract Introduction A case of premature ovarian failure with concomitant findings of Robertsonian translocation between 15 and 21 chromosomes is reported here. The aforementioned karyotypic aberration has not been reported in the context of premature ovarian failure to date. Case presentation We present a case of premature ovarian failure in a 27-year-old infertile Kurdish Iranian woman with a Robertsonian 15;21 translocation. Conclusions The diagnosis of premature ovarian failure of unknown etiology, but with karyotypic evidence of a balanced autosomal translocation, suggests the possible role of autosomal genes in the pathogenesis of ovarian follicular attrition.

  13. Insertional events as well as translocations may arise during aberrant immunoglobulin switch recombination in a patient with multiple myeloma.

    Science.gov (United States)

    Pratt, G; Fenton, J A; Davies, F E; Rawstron, A C; Richards, S J; Collins, J E; Owen, R G; Jack, A S; Smith, G M; Morgan, G J

    2001-02-01

    The majority of patients with multiple myeloma have translocations involving the immunoglobulin heavy chain switch regions on chromosome 14q32 and a promiscuous range of partner chromosomes. We describe a patient with an insertion of 132 bp of chromosome 22q12 sequence into the 5' region flanking S(mu) on chromosome 14q32. The 132 bp region from chromosome 22q12 contains the whole of exon 3 from a novel gene of unknown function in man. The significance of such insertional events remains unclear. The description of insertional events occurring as a result of abnormal switch recombination suggests that, in myeloma, dysregulation of oncogenes may occur by a mechanism other than chromosomal translocation.

  14. Detection of the deletion of chromosome 13 and the translocation of immunoglobulin heavy chain gene by interphase fluorescence in situ hybridization in patients with multiple myeloma%荧光原位杂交检测多发性骨髓瘤患者13号染色体缺失和IgH基因易位

    Institute of Scientific and Technical Information of China (English)

    赵文杰; 岑岭

    2011-01-01

    Objective To investigate the relationship of the deletion of the long arm of chromosome 13 [ del( 13q) ] and the translocation of immunoglobulin heavy chain ( IgH) gene [t(14q)]in multiple myeloma ( MM) patients with related clinical factors. Methods The interphase fluorescence in situ hybridization ( FISH) was performed in 25 primarily-diagnosed MM patients to detect del(13q)and t(14q) with probe D13S319 and IgH. Results The positive rates of del ( 13q) and t ( 14q) were 32. 0% and 16. 0% in 25 MM patients. Two patients ( 8. 0% ) had both 2 abnormalities of them. The patients with the 2 abnormalities had higher beta2 -microglobin ( β2 -MG) level and bone marrow plasma cell percentage. Conclusions Interphase FISH is a sensitive method to detect the mutation of MM. The del( 13q) and t( 14q) can be used to predict treatment response and prognosis.%目的 分析多发性骨髓瘤(MM)患者13号染色体长臂缺失[ del(13q)]和免疫球蛋白重链(IgH)基因易位[t(14q)]与临床相关因素的关系.方法 采用间期荧光原位杂交(FISH)技术对25例初诊MM患者应用探针D13S319、IgH分别进行del(13q)和t(14q)的检测.结果 25例患者中del( 13 q)8例(32.0%)、IgH易位4例(16.0%),同时存在上述2种异常2例(8.0%).伴del( 13 q)及IgH易位的患者具有较高的血清B2-微球蛋白(β2-MG)水平及较高的骨髓浆细胞百分比.结论 间期FISH是一种检测MM患者骨髓瘤细胞突变的敏感方法,具有临床应用价值.del(13q)、t(14q)对判断临床疗效和预后具有指导作用.

  15. 小麦-黑麦染色体代换易位系创新材料的选育及抗病性研究%Development and Disease Resistance Survey of New Wheat-rye Chromosomal Substitution-translocation Lines

    Institute of Scientific and Technical Information of China (English)

    舒焕麟; 杨家秀; 杨足君; 李光蓉

    2000-01-01

    Under the condition of wheat stripe rust epidemic induced by spreader lines. 5 wheat-rye substitutiontranslocation lines including NR98117- 9S are developed from the accession of “Currency/Xiaoyan 6//Chuanyu 12/3/A302” through the treatment of wheat-alien direct hybridization backcrossing together with open-pollination These lines exhibited not only the better agronomical traits than their wheat parents Xiaoyan 6 and Chuanyu 12, but also high resistance to wheat stripe rust mixed races and race CYR - 31. Therefore, the above lines can be utilized as important parents to Sichuan wheat breeding for stripe rust resistance. In addition, the reliability of indirect selection in the process of wheat breeding for the development of wheat - rye chromosomal substitution-translocation lines is also discussed in the present paper.%利用小麦-异源直接杂交法回交结合开放授粉处理,在诱发材料制造的条锈病流行条件下,从组合Curren-cy/小偃6号//川育12号/3/A302中选育出小麦-黑麦染色体代换易位系NR98117-9S等5个小麦材料。这些材料大都具有与亲本小麦品种小偃6号及川育12号不相上下的农艺性状,对条锈生理小种条中31和混合菌种表现高抗,可作为四川小麦抗条锈病育种的亲本加以利用。文中还讨论了小麦育种中的间接选择在创制小麦黑麦染色体代换易位系上的可行性。

  16. Breeding of T. aestivum-Ag. intermedium translocation lines with T. timopheevii cytoplasm and characterization by GISH

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    A male-sterile T. aestivum-Ag. intermedium partial amphiploid with cytoplasm of T. timopheevii as a female parent was crossed to common wheat. The hybrid was backcrossed to the male parent several times continually and self-crossed at last. Two stable lines with common wheat phenotype, H96269-2 and H96278, have been obtained. The chromosome numbers of the two lines are all 2n = 42 in somatic cells. By inoculation test, the two lines show a high level of resistance to yellow rust. Through genomic in situ hybridization (GISH) with Ag. intermedium total genomic DNA as a probe, it is demonstrated that the two stable lines are all small segmental translocation lines, and the translocated chromosome segments from Ag. intermedium are located on the short arm terminals of wheat chromosomes. Genetics analysis suggests that the yellow rust resistance gene(s) are probably located on the translocated chromosome segments of Ag. intermedium.

  17. De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder

    OpenAIRE

    Nadia Bayou; Ridha M'rad; Ahlem Belhaj; Hussein Daoud; Lamia Ben Jemaa; Ramzi Zemni; Sylvain Briault; M. Bechir Helayem; Habiba Chaabouni

    2008-01-01

    The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as wel...

  18. 18,X,Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

    Institute of Scientific and Technical Information of China (English)

    Elena Moretti; Nicola Antonio Pascarelli; Valentina Giannerini; Michela Geminiani; Cecilia Anichini; Oiulia Collodel

    2009-01-01

    We analysed ejaculated spermatozoa from five infertile men with different balanced reciprocal translocations to contribute to the study of meiotic segregation of chromosomes 18, X and Y and also to evaluate sperm morphology by transmission electron microscopy (TEM) analysis. Conventional lymphocyte karyotype analyses highlighted dif-ferent reciprocal balanced translocations: t(12; 13), t(4;9), t(X;8), t(8; 10) and t(3; 16). Semen analysis was performed by light and TEM. Fluorescence in situ hybridization was performed directly on sperm nuclei using centromeric probes for chromosomes 18, X and Y. The carriers of the balanced reciprocal translocations considered in the pres-ent study showed a very similar pattern of sperm pathologies: diffused presence of apoptosis and immaturity. All patients showed meiotic segregation derangements, highlighted by the presence of sperm diploidies and sex chro-mosome disomies particularly related to the failure of the first meiotic division. However, an increased incidence of chromosome 18 aneuploidy was detected in spermatozoa from t(X;8) and t(8;10) carriers. We have also reported values from sex chromosomes such as t(X;8), although the X chromosome was involved in translocation. Since pa-tients with reciprocal translocations and spermatogenetic impairment are candidates for intracytoplasmic sperm in-jection cycles, the study of sperm parameters, and particularly of the level of aneuploidy rates, would provide better information for couples at risk and would contribute to the data in the literature for a better understanding of the ef-fects of chromosomal rearrangement on the whole meiotic process and, in particular, on chromosomes not involved in translocation.

  19. Meiotic chromosomal variation resulting from irradiation of pollen in maize

    International Nuclear Information System (INIS)

    The objective of this study was to standardize an induction strategy of chromosome aberrations in maize inbred line L-869. Pollen grains irradiated with 0, 36 and 72 Gy were used for fertilization. Resulting seeds were planted in a greenhouse to assess the number of abnormal meiotic cells. Germination, height, sterility and mortality were verified. Cells with delayed separation of chromosomes, translocation, deficiency, abnormal pairing, later condensation and anaphase bridges were observed. The number of abnormalities increased as the dosage increased but chromosome aberration types were the same regardless of the dosages used. Various chromosome-altered plants were obtained without viability loss. (author)

  20. Use of chromosome aberrations for predicting genetic hazards to man

    International Nuclear Information System (INIS)

    The question of the use of chromosome aberrations for predicting genetic hazards to man is discussed under the following headings: interspecific comparisons of dicentric and deletion production in peripheral leukocytes; comparison of dicentric yields in leukocytes to reciprocal translocation yield in spermatogonia; recovery of spermatogonia induced translocations in the sons of irradiated males; cytologically and genetically detected deletions; and current gaps in our knowledge and problems of future interest

  1. Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report.

    Science.gov (United States)

    Brisset, S; Izard, V; Misrahi, M; Aboura, A; Madoux, S; Ferlicot, S; Schoevaert, D; Soufir, J C; Frydman, R; Tachdjian, G

    2005-08-01

    (Y;autosome) translocations have been reported in association with male infertility. Different mechanisms have been suggested to explain the male infertility, such as deletion of the azoospermic factor (AZF) on the long arm of the Y chromosome, or meiosis impairment. We describe a new case with a de novo unbalanced translocation t(Y;22) and discuss the genotype-phenotype correlation. A 36 year old male with azoospermia was found to have a mosaic 45,X/46,X, + mar karyotype. Fluorescence in situ hybridization (FISH) showed the presence of a derivative Y chromosome containing the short arm, the centromere and a small proximal part of the long-arm euchromatin of the Y chromosome and the long arm of chromosome 22. The unstable small marker chromosome included the short arm and the centromere of chromosome 22. This unbalanced translocation t(Y;22)(q11.2;q11.1) generated the loss of the long arm of the Y chromosome involving a large part of AZFb, AZFc and Yq heterochromatin regions. Testicular tissue analyses showed sperm in the wet preparation. Our case shows the importance of documenting (Y;autosome) translocations with molecular and testicular tissue analyses.

  2. Molecular Characterization of a New Wheat-Thinopyrum intermedium Translocation Line with Resistance to Powdery Mildew and Stripe Rust

    Directory of Open Access Journals (Sweden)

    Haixian Zhan

    2015-01-01

    Full Text Available A new wheat-Thinopyrum translocation line CH13-21 was selected from the progenies derived from a cross between wheat-Th. intermedium partial amphiploid TAI7047 and wheat line Mianyang11. CH13-21 was characterized by using genomic in situ hybridization (GISH, multicolor-GISH (mc-GISH, multicolor-fluorescence in situ hybridization (mc-FISH and chromosome-specific molecular markers. When inoculated with stripe rust and powdery mildew isolates, CH13-21 displayed novel resistance to powdery mildew and stripe rust which inherited from its Thinopyrum parent. The chromosomal counting analyses indicated that CH13-21 has 42 chromosomes, with normal bivalent pairing at metaphase I of meiosis. GISH probed by Th. intermedium genomic DNA showed that CH13-21 contained a pair of wheat-Th. intermedium translocated chromosomes. Sequential mc-FISH analyses probed by pSc119.2 and pAs1 clearly revealed that chromosome arm 6BS of CH13-21 was replaced by Thinopyrum chromatin in the translocation chromosome. The molecular markers analysis further confirmed that the introduced Th. intermedium chromatin in CH13-21 belonged to the long arm of homoeologous group 6 chromosome. Therefore, CH13-21 was a new T6BS.6Ai#1L compensating Robertsonian translocation line. It concludes that CH13-21 is a new genetic resource for wheat breeding programs providing novel variation for disease resistances.

  3. Genomic Comparison of Translocating and Non-Translocating Escherichia coli.

    Directory of Open Access Journals (Sweden)

    Nathan L Bachmann

    Full Text Available Translocation of E. coli across the gut epithelium can result in fatal sepsis in post-surgical patients. In vitro and in vivo experiments have identified the existence of a novel pathotype of translocating E. coli (TEC that employs an unknown mechanism for translocating across epithelial cells to the mesenteric lymph nodes and the blood stream in both humans and animal models. In this study the genomes of four TEC strains isolated from the mesenteric lymph nodes of a fatal case of hospitalised patient (HMLN-1, blood of pigs after experimental shock (PC-1 and after non-lethal haemorrhage in rats (KIC-1 and KIC-2 were sequenced in order to identify the genes associated with their adhesion and/or translocation. To facilitate the comparison, the genomes of a non-adhering, non-translocating E. coli (46-4 and adhering but non-translocating E. coli (73-89 were also sequenced and compared. Whole genome comparison revealed that three (HMLN-1, PC-1 and KIC-2 of the four TEC strains carried a genomic island that encodes a Type 6 Secretion System that may contribute to adhesion of the bacteria to gut epithelial cells. The human TEC strain HMLN-1 also carried the invasion ibeA gene, which was absent in the animal TEC strains and is likely to be associated with host-specific translocation. Phylogenetic analysis revealed that the four TEC strains were distributed amongst three distinct E. coli phylogroups, which was supported by the presence of phylogroup specific fimbriae gene clusters. The genomic comparison has identified potential genes that can be targeted with knock-out experiments to further characterise the mechanisms of E. coli translocation.

  4. Compositions for chromosome-specific staining

    Science.gov (United States)

    Gray, Joe W.; Pinkel, Daniel

    1998-01-01

    Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods are provided to disable the hybridization capacity of shared, high copy repetitive sequences and/or remove such sequences to provide for useful contrast. Still further methods are provided to produce chromosome-specific staining reagents which are made specific to the targeted chromosomal material, which can be one or more whole chromosomes, one or more regions on one or more chromosomes, subsets of chromosomes and/or the entire genome. Probes and test kits are provided for use in tumor cytogenetics, in the detection of disease related loci, in analysis of structural abnormalities, such as translocations, and for biological dosimetry. Further, methods and prenatal test kits are provided to stain targeted chromosomal material of fetal cells, including fetal cells obtained from maternal blood. Still further, the invention provides for automated means to detect and analyse chromosomal abnormalities.

  5. A jumping Robertsonian translocation; a molecular and cytogenetic study

    Energy Technology Data Exchange (ETDEWEB)

    Park, V.M.; Gross, S.J.; Tharapel, A.T. [Univ. of Tennessee, Memphis, TN (United States)] [and others

    1994-09-01

    Lejeune et al. were the first to use the term {open_quotes}translocation sauteuse{close_quotes} or jumping translocation to describe mosaicism due to the presence of multiple structural rearrangements. In this study, we report the cytogenetic and molecular analyses of a patient with mosaicism for two different Robertsonian translocations, both involving chromosome 21. The proband`s karyotype based on lymphocyte cultures is 45,XX,t(21q22q)/46,XX,-21,+i(21q21q) (98%/2%). Chromosome analysis of skin fibroblasts showed 100% of cells with a 45,XX,t(21q22q) complement. A high level of mosaicism was seen in an ovarian biopsy, where 1/3 of cells exhibited the unbalanced cell line with the 21/21 rearrangement. The proband`s pregnancy history is consistent with the high proportion of the 21/21 rearrangement in her ovary. She has had spontaneous abortions and two livebirths, both of whom are affected with Down syndrome [46,XX,-21,+i(21q21q) and 46,XY,-21,+i(21q21q)]. Analysis of cord blood cultures showed that the second child exhibits low level mosaicism for a normal cell line, which further suggests instability of the 21/21 rearrangement. FISH with alphoid probes showed that the 21/21 and 21/22 rearrangements are dicentric and that each long arm segment retains its appropriate centromere. Segregation studies using microsatellite polymorphisms indicated that the 21/21 rearrangement is an isochromosome. The same technique was used to establish that the proband`s rearrangements formed de novo from her mother`s chromosome 21. An uncommon chromosome 22p polymorphism is maternally derived and is present in the proband`s unbalanced cell line. However, this 22 is absent in the balanced 45,XX,t(21q22q) cell line of the proband because it is involved in the translocation. Therefore, we propose a model in which the i(21q) was the progenitor rearrangement and participated in subsequent nonreciprocal rearrangements characteristic of a jumping translocation.

  6. Structural chromosomal mosaicism and prenatal diagnosis.

    Science.gov (United States)

    Pipiras, E; Dupont, C; Chantot-Bastaraud, S; Siffroi, J P; Bucourt, M; Batallan, A; Largillière, C; Uzan, M; Wolf, J P; Benzacken, B

    2004-02-01

    True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. PMID:14974115

  7. Molecular Mechanisms and Diagnosis of Chromosome 22q11.2 Rearrangements

    Science.gov (United States)

    Emanuel, Beverly S.

    2008-01-01

    Several recurrent, constitutional genomic disorders are present on chromosome 22q. These include the translocations and deletions associated with DiGeorge and velocardiofacial syndrome and the translocations that give rise to the recurrent t(11;22) supernumerary der(22) syndrome (Emanuel syndrome). The rearrangement breakpoints on 22q cluster…

  8. Development and Use of Radiation-induced Chromosomal Translocations and Primary Monosomics of Cotton (G. hirsutum L. )%利用诱变技术培育和利用棉花染色体易位系和初级单体

    Institute of Scientific and Technical Information of China (English)

    M. F. SANAMYAN; J. E. PETLYAKOVA; E. M. RAKHMATULLINA; E. A. SHARIPOVA

    2002-01-01

    @@ Over 200 disomie plants with translocations of cotton were recovered as heterozygotes following used by four types of treatments: combined treatment of seeds with colchicines and γ-rays,irradiation of seeds by fast and thermal neutrons and γ-irradiation of pollen. Numbers of translocations obtained were differed in M1, M2and M3 generation after irradiation and after treatment by different doses of irradiation.

  9. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.

    OpenAIRE

    Villard, Laurent; Cacciagli, Pierre; Haddad, Marie-Reine; Mignon-Ravix, Cécile; El-Waly, Bilal; Moncla, Anne; Missirian, Chantal; Chabrol, Brigitte

    2010-01-01

    Abstract Mental retardation is a frequent condition that is clinically and genetically highly heterogeneous. One of the strategies used to identify new causative genes is to take advantage of balanced chromosomal rearrangements in affected patients. We characterized a de novo t(10;13) balanced translocation in a patient with severe mental retardation and major hypotonia. We found that the balanced translocation is molecularly balanced. The translocation breakpoint disrupt the codin...

  10. Sequencing and Analyzing the "t" (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-Onset Schizophrenia/Autistic Disorder

    Science.gov (United States)

    Idol, Jacquelyn R.; Addington, Anjene M.; Long, Robert T.; Rapoport, Judith L.; Green, Eric D.

    2008-01-01

    We characterized a "t"(1;7)(p22;q21) reciprocal translocation in a patient with childhood-onset schizophrenia (COS) and autism using genome mapping and sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring the translocation breakpoint to a…

  11. Structural insights into ribosome translocation.

    Science.gov (United States)

    Ling, Clarence; Ermolenko, Dmitri N

    2016-09-01

    During protein synthesis, tRNA and mRNA are translocated from the A to P to E sites of the ribosome thus enabling the ribosome to translate one codon of mRNA after the other. Ribosome translocation along mRNA is induced by the universally conserved ribosome GTPase, elongation factor G (EF-G) in bacteria and elongation factor 2 (EF-2) in eukaryotes. Recent structural and single-molecule studies revealed that tRNA and mRNA translocation within the ribosome is accompanied by cyclic forward and reverse rotations between the large and small ribosomal subunits parallel to the plane of the intersubunit interface. In addition, during ribosome translocation, the 'head' domain of small ribosomal subunit undergoes forward- and back-swiveling motions relative to the rest of the small ribosomal subunit around the axis that is orthogonal to the axis of intersubunit rotation. tRNA/mRNA translocation is also coupled to the docking of domain IV of EF-G into the A site of the small ribosomal subunit that converts the thermally driven motions of the ribosome and tRNA into the forward translocation of tRNA/mRNA inside the ribosome. Despite recent and enormous progress made in the understanding of the molecular mechanism of ribosome translocation, the sequence of structural rearrangements of the ribosome, EF-G and tRNA during translocation is still not fully established and awaits further investigation. WIREs RNA 2016, 7:620-636. doi: 10.1002/wrna.1354 For further resources related to this article, please visit the WIREs website. PMID:27117863

  12. Chromosome painting defines genomic rearrangements between red howler monkey subspecies.

    Science.gov (United States)

    Consigliere, S; Stanyon, R; Koehler, U; Agoramoorthy, G; Wienberg, J

    1996-06-01

    We hybridized whole human chromosome-specific DNA libraries to chromosomes of two supposed subspecies of Alouatta seniculus: Alouatta seniculus sara and Alouatta seniculus arctoides. The number of hybridization signals per haploid set is 42 in A. s. sara and 43 in A. s. arctoidea; the two karyotypes differ by at least 16 chromosomal rearrangements, including numerous translocations. An unusual sex chromosome system is shared by both taxa. The sex chromosome system results from a Y translocation with a chromosome homologous to parts of human chromosome 3/15 and can be described as X1X2Y1Y2/X1X1X2X2 (male/female). Both red howlers also have microchromosomes, a highly unusual karyological trait not found in other higher primates. These microchromosomes are not hybridized by any human chromosome paint and therefore are probably composed of repetitive DNA. It is well known that New World monkeys have high karyological variability. It is probable that molecular cytogenetic analyses including chromosome painting will permit an accurate reconstruction of the phylogeny of these monkeys and help establish the ancestral karyotype for higher primates. PMID:8817065

  13. Retrospective biodosimetry using translocation frequency in a stable cell of occupationally exposed to ionizing radiation

    International Nuclear Information System (INIS)

    Two cases of hematological malignancies were reported in an industrial radiography company over a year, which were reasonably suspected of being consequences of prolonged exposure to ionizing radiation because of the higher incidence than expected in the general population. We analyzed chromosomal aberrations in the peripheral blood lymphocytes from the other workers who had been working under similar circumstances as the patients in the company. Among the subjects tested, 10 workers who belonged to the highest band were followed up periodically for 1.5 years since the first analysis. The aim of this study was to clarify pertinence of translocation analysis to an industrial set-up where chronic exposure was commonly expected. To be a useful tool for a retrospective biodosimetry, the aberrations need to be persistent for a decade or longer. Therefore we calculated the decline rates and half-lives of frequency for both a reciprocal translocation and a dicentric chromosome and compared them. In this study, while the frequency of reciprocal translocations was maintained at the initial level, dicentric chromosomes were decreased to 46.9% (31.0–76.5) of the initial frequency over the follow-up period. Our results support the long-term stability of reciprocal translocation through the cell cycle and validate the usefulness of translocation analysis as a retrospective biodosimetry for cases of occupational exposure. (author)

  14. Detection of a complex translocation using fluorescent in situ hybridization (FISH)

    Energy Technology Data Exchange (ETDEWEB)

    Rosen, B.A. [Brandeis Univ., Waltham, MA (United States); Abuelo, D.N. [Rhode Island Hospital, Providence, RI (United States); Mark, H.F. [Brown Univ. School of Medicine, Providence, RI (United States)

    1994-09-01

    The use of fluorescent in situ hybridization (FISH) allowed the detection of a complex 3-way translocation in a patient with multiple congenital malformations and mental retardation. The patient was a 10-year-old girl with mental retardation, seizures, repaired cleft palate, esotropia, epicanthal folds, broad nasal bridge, upward slanting palpebral fissures, single transverse palmar crease, brachydactyly, hypoplastic nails, ectrodactyly between the third and fourth right toes, and hypoplasia of the left third toe. Chromosome analysis performed at birth was reported as normal. We performed high resolution banding analysis which revealed an apparently balanced translocation between chromosomes 2 and 9. However, because of her multiple abnormalities, further studies were ordered. Fluorescent in situ hybridization (FISH) using chromosome painting probes revealed a karyotype of 46,XX,t(2;8;9) (2pter{yields}q31::8q21.2{yields}8qter; 8pter{yields}q21.2::2q31{yields}q34::9q34{yields}qter; 9pter{yields}q34::2q34{yields}qter). The 3-way translocation appears to be de novo, as neither parent is a translocation carrier. This case illustrates the importance of using FISH to further investigate cases of apparently balanced translocations in the presence of phenotypic abnormalities and/or mental retardation.

  15. Survey of human chromosomal abnormalities in Iceland

    Energy Technology Data Exchange (ETDEWEB)

    Jensson, O.; Hauksdottir, H.; Bjarnason, O.; Tulinius, H.

    1976-06-01

    The work of the Chromosome Laboratory of the Genetical Committee of the University of Iceland is reviewed. Initially, the main aim was to carry out cytogenetic typing of all individuals in Iceland with Down's syndrome available for study in institutions and homes, including individuals born in maternity clinics and homes during the eight years of investigation. The results of the chromosome investigation are summarized in Table 1. Lymphocyte cultures were made from a total of 932 individuals from September 1967 to 1975 and 152 individuals with Down's syndrome were cytogenetically typed. Unusual karyotype leading to Down's syndrome was found in 10 cases. Of these six were found to be mosaic, two had D/G and two G/G translocation. By cytogenetic family survey 13 D/G translocation carriers were detected in the family. A separate paper on the cytogenetic survey of Down's syndrome in Iceland is under way.

  16. Ionizing Radiation Induces HMGB1 Cytoplasmic Translocation and Extracellular Release

    Institute of Scientific and Technical Information of China (English)

    Lili Wang; Li He; Guoqiang Bao; Xin He; Saijun Fan; Haichao Wang

    2016-01-01

    Objective A nucleosomal protein,HMGBI,can be secreted by activated immune cells or passively released by dying cells,thereby amplifying rigorous inflammatory responses.In this study we aimed to test the possibility that radiation similarly induces cytoplasmic HMGB1 translocation and release.Methods Human skin fibroblast (GM0639) and bronchial epithelial (16HBE) cells and rats were exposed to X-ray radiation,and HMGB1 translocation and release were then assessed by immunocytochemistry and immunoassay,respectively.Results At a wide dose range(4.0-12.0 Gy),X-ray radiation induced a dramatic cytoplasmic HMGB1 translocation,and triggered a time-and dose-dependent HMGB1 release both in vitro and in vivo.The radiation-mediated HMGB1 release was also associated with noticeable chromosomal DNA damage and loss of cell viability.Conclusions Radiation induces HMGB1 cytoplasmic translocation and extracellular release through active secretion and passive leakage processes.

  17. Effect of oil of nutmeg on the fertility and induction of meiotic chromosome rearrangements in mice and their first generation.

    Science.gov (United States)

    Pecevski, J; Savković, D; Radivojević, D; Vuksanović, L

    1981-01-01

    The dose-dependent effects of oil of nutmeg on the fertility and induction of chromosomal translocations in treated mice and their F1 males were examined. C3H male mice were treated with oil of nutmeg for 8 successive weeks at 60, 80, 100 and 400 mg/kg body weight. The greatest reduction of fertility occurred in the group treated with 400 mg/kg; chromosomal translocation in directly treated animals was not found. The chromosomal translocations in F1 males, derived from males treated with oil of nutmeg at dose levels of 60, 80 and 100 mg/kg. PMID:7194525

  18. Lymphoma-associated translocation t(14;18) in blood B cells of normal individuals

    NARCIS (Netherlands)

    Limpens, J; Stad, R; Vos, C; de Vlaam, C; de Jong, D; van Ommen, G J; Schuuring, E; Kluin, P M

    1995-01-01

    Successive oncogenic steps are necessary to generate cancer. In many B-cell lymphomas, chromosomal translocations are considered to be an early oncogenic hit. We investigated whether the lymphoma-associated t(14;18) involving the BCL2 oncogene can occur outside the context of malignancy. To this end

  19. A Rare t(9;22;16(q34;q11;q24 Translocation in Chronic Myeloid Leukemia for Which Imatinib Mesylate Was Effective: A Case Report

    Directory of Open Access Journals (Sweden)

    Masahiro Manabe

    2011-01-01

    Full Text Available The t(9;22(q34;q11 translocation is found in about 90% of chronic myeloid leukemia (CML patients. About 5–10% of CML patients have complex variant translocations involving a third chromosome in addition to chromosomes 9 and 22. Herein, we describe a CML-chronic phase male with a complex translocation involving chromosome 16, t(9;22;16(q34;q11;q24. First, he was treated with interferon-alpha and intermittent hydroxyurea, but only a partial cytogenetic response was attained. Subsequently, the patient was treated with imatinib mesylate because of an additional chromosome abnormality, trisomy 8. A major molecular response was obtained after one year's imatinib therapy, and the follow-up chromosomal analysis performed 4 years and 3 months after the initiation of imatinib therapy displayed a normal karyotype of 46,XY.

  20. Banding studies of chromosomes in a patient with mycosis fungoides

    Energy Technology Data Exchange (ETDEWEB)

    Fukuhara, S.; Rowley, J.D.; Variakojis, D.

    1978-11-01

    Chromosomes from a patient with mycosis fungoides were examined in detail with banding techniques. Hyperdiploid cells from a lymph node had common anomalies of certain chromosomes which formed three similar clones. The abnormalities involved chromosomes Nos. 1, 2, 5, 8, 9, 10, 14, and 18, in addition to an unknown small metacentric marker (M3). Although there were a number of mitotic cells in peripheral blood cultured both with and without PHA, none of the few cells with abnormal karyotypes was similar to the clonal cells of the lymph node. One of the abnormalities in the lymph node was a 14q rearrangement, which could be the result of a translocation of Nos. 8 and 14 involving a third chromosome, No. 2. An abnormality in the blood resulted from a translocation between the long arms of Nos. 1 and 14. These findings could be useful for studies in which mycosis fungoides is compared with the Sezary syndrome and other lymphoid malignancies.

  1. A rare Robertsonian translocation rob(14;22) carrier with azoospermia, meiotic defects, and testicular sperm aneuploidy.

    Science.gov (United States)

    Sobotka, Vladimir; Vozdova, Miluse; Heracek, Jiri; Rubes, Jiri

    2015-01-01

    Male infertility is a serious problem in an increasing number of couples. We report an infertile man with non-obstructive azoospermia and karyotype 45,XY,rob(14;22). The immunofluorescence analysis of his testicular tissue using antibodies to SYCP1, SYCP3, HORMAD2, MLH1, and centromeres showed delayed synapsis of the chromosomes involved in the translocation, a varying extent of trivalent asynapsis and its association with sex chromosomes. The mean frequency of meiotic recombination per cell was within the range of normal values. Fluorescence in situ hybridization (FISH) with probes for chromosomes 14 and 22 revealed 5.83% of chromosomally abnormal testicular spermatozoa. FISH with probes for chromosomes X, Y, and 21 showed frequencies of disomic and diploid testicular spermatozoa increased when compared to ejaculated sperm of healthy donors, but comparable with published results for azoospermic patients. PGD by FISH for the translocation and aneuploidy of chromosomes X, Y, 13, 18, and 21 showed a normal chromosomal complement in one out of three analyzed embryos. A healthy carrier girl was born after the embryo transfer. This study shows the benefits of preimplantation genetic diagnosis in a case of a rare Robertsonian translocation carrier with azoospermia and a relatively low frequency of chromosomally unbalanced testicular spermatozoa.

  2. The study of the mechanisms of the different phenotypical manifestations in patients with reciprocal translocations

    Science.gov (United States)

    Lozynskyi, Rostyslav; Lozynska, Maria

    2006-04-01

    Cytogenetical study of lymphocytes using the light microscopy could reveal a large amount of chromosomal abnormalities, which determine corresponding hereditary disorders. However, geneticists sometimes observe the cases where the same chromosomal rearrangements seen in light microscope cause quite different phenotype (from normal to abnormal) in relatives. The aim of the study was to explain the mechanisms of the different phenotype appearance in family members carrying the same reciprocal translocations. It was carried out the standard chromosome analysis in 12 families, where some relatives had reciprocal translocations. Chromosomes were differentially stained using G-method. The samples were analysed in optical microscope (x1000). Using OMIM gene map, UCSC Genome Browser, eGenome Release v2.3 and Unigene databases it was revealed transposons and transposon derivates in chromosome regions involved in translocations. We suppose that the variability of clinical manifestations in translocation-bearing patient is caused by the influence of the transposons, such as Hsmar2, Alu-elements or some others. We propose the following mechanisms of transposone action in these patients. The first may lie on recombination between the 2 specific DNA-transposon containing sites on different chromosomes resulting in balanced reciprocal translocation with no significant influence on the most genes' activity in corresponding regions. The weakening of transposase repression, which may follow in gametes, increases the transposase activity, and hereby, the probability of transposon dislocation. Dislocation can change the activity of groups of genes, because transposons often carry the regulatory sequences. This can induce multiply innate disorders in the progeny of the phenotypically healthy parents, carrying the translocation. According to the second mechanism, the reciprocal translocation is caused by recombination between 2 Alu repeats. These repeats can undergo reverse

  3. Stable chromosome aberrations in the reconstruction of radiation doses

    International Nuclear Information System (INIS)

    Chromosome-type aberrations, such as dicentric and translocation chromosomes, are biomarkers of exposure to ionizing radiation. So far, analysis of dicentric chromosomes in peripheral blood lymphocytes has been the only method routinely used in biological dose assessment. During division of T cell precursors, proliferative death of cells containing dicentric chromosomes reduces the number of such lymphocytes in peripheral blood. Dicentrics are thus suitable for dose calculations during a reasonably short period after exposure to radiation. Unlike dicentrics, translocations persist in cell division and enable dose estimation over long time periods following exposure. A recent development in molecular biology, the FISH (fluorescence in situ hybridization) chromosome-painting technique, has opened the possibility for accurate recognition of translocations and thus retrospective determination of dose. The purpose of the present study was to evaluate the applicability of translocation analysis by means of FISH chromosome painting for retrospective dosimetry. In the construction of acute dose-effect curves for 60Co g-ray-induced chromosomal aberrations using FISH chromosome painting, translocations showed a linear-quadratic relationship to dose, similar to that seen in dicentrics. Donor-dependent translocation frequencies at control level and at low doses were observed. The linear part of the calibration curve for two way translocations, i.e. both translocation chromosomes present, proved to be more reliable than the comparable low-dose response for total translocations, which include both two- and one-way translocations. The results indicate that the linear part of the curve requires precise determination, particularly since application of the technique will probably cover mainly chronically exposed subjects. An opportunity to gain direct information on translocation persistence over time was opened by obtaining repeated samples from subjects accidentally exposed to

  4. 普通小麦-簇毛麦T5VS·5DL易位染色体对小麦主要农艺性状、品质和白粉病抗性的遗传效应分析%The Genetic Effect of Wheat-H.villosa T5VS·5DL Translocated Chromosome on Agronomic Characteristics, Quality and Powdery Mildew Resistance of Common Wheat

    Institute of Scientific and Technical Information of China (English)

    张瑞奇; 冯祎高; 侯富; 陈树林; 别同德; 陈佩度

    2015-01-01

    Objective]The objective of this study is to understand the genetic effect of wheat-H.villosa T5VS·5DL translocated chromosome on yield traits, powdery mildew resistance,grain quality of common wheat and transmission of T5VS·5DL chromosome through male and female Gametes, and further learn more about its utilization value in wheat breeding improvement.[Method]Based on the identification of T5VS·5DL translocated chromosome by GISH and five 5VS specific molecular markers, the advanced-generation backcrossing lines with T5VS·5DL translocated chromosome and their F2, F2:3 separation populations of which recurrent parents are Yangmai 15 and Yangmai 13, respectively, were used to investigate the yield traits, powdery mildew resistance and grain quality. The backcrossing lines were planted in greenhouse and field in 2013-2014, while the separation populations were only planted in greenhouse. Also, the mixed races ofBlumeria graminis (DC.) E.O.Speer f. sp.tritici (Bgt) were used to infect the materials at seeding stage and adult plant stage.[Result]The results showed that there were no significant differences between T5VS·5DL lines and their recurrent parents in agronomic traits,including plant height,spike length, spike/spikelets, grains/spike and 1000-kernal weight which might be due to the better compensation of 5VS instead of 5DS. Compared to Yangmai15 and Yangmai13, the advanced-generation backcrossing T5VS·5DL translocation lines appeared lower in SKCS values, water solvent retention capacities and Na2CO3 solvent retention capacities, and similar in sucrose solvent retention capacities, lactic acid solvent retention capacities and protein content, which might be due to the different genotypes of softness genes located on 5VS and 5DS. Therefore, T5VS·5DL might have a positive effect on soft wheat quality. In addition, the results of powdery mildew resistance investigated at seedling stage and adult plant stage indicated that T5VS·5DL lines were susceptible at

  5. A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

    OpenAIRE

    Faezeh Azizi; Soraya Saleh Gargari; Mir Davood Omrani

    2013-01-01

    Premature ovarian failure (POF) causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a girl with a de novo reciprocal translocation between chromosomes X and 9. The proband was a 17 years old girl with a history of irregular menstruation and high level of follicle-stimulating hormone (FSH) (151 m...

  6. Chromosome Microarray.

    Science.gov (United States)

    Anderson, Sharon

    2016-01-01

    Over the last half century, knowledge about genetics, genetic testing, and its complexity has flourished. Completion of the Human Genome Project provided a foundation upon which the accuracy of genetics, genomics, and integration of bioinformatics knowledge and testing has grown exponentially. What is lagging, however, are efforts to reach and engage nurses about this rapidly changing field. The purpose of this article is to familiarize nurses with several frequently ordered genetic tests including chromosomes and fluorescence in situ hybridization followed by a comprehensive review of chromosome microarray. It shares the complexity of microarray including how testing is performed and results analyzed. A case report demonstrates how this technology is applied in clinical practice and reveals benefits and limitations of this scientific and bioinformatics genetic technology. Clinical implications for maternal-child nurses across practice levels are discussed. PMID:27276104

  7. Nonrandom chromosomal changes in human malignant cells

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J D

    1977-01-01

    The role of chromosomal changes in human malignant cells has been the subject of much debate. The observation of nonrandom chromosomal changes has become well recognized in chronic myelogenous leukemia, and more recently in acute myelogenous leukemia. In the present report, data are presented on the sites of duplication of chromosome No. 1 in hematologic disorders. Trisomy for region lq25 to lq32 was observed in every one of 34 patients whose cells showed duplication of some part of chromosome No. 1. Adjacent regions lq21 to lq25, and lq32 to lqter, also were trisomic in the majority of patients. Two patients had deletions, one of lq32 to qter, and the other, of lp32 to pter. The sites of chromosomal breaks leading to trisomy differ from those involved in balanced reciprocal translocations. Some of these sites are sometimes, but not always, vulnerable in constitutional chromosomal abnormalities. The nature of the proliferative advantage conferred on myeloid cells by these chromosomal changes is unknown.

  8. Dynamics of response to asynapsis and meiotic silencing in spermatocytes from Robertsonian translocation carriers.

    Directory of Open Access Journals (Sweden)

    Anna K Naumova

    Full Text Available Failure of homologous synapsis during meiotic prophase triggers transcriptional repression. Asynapsis of the X and Y chromosomes and their consequent silencing is essential for spermatogenesis. However, asynapsis of portions of autosomes in heterozygous translocation carriers may be detrimental for meiotic progression. In fact, a wide range of phenotypic outcomes from meiotic arrest to normal spermatogenesis have been described and the causes of such a variation remain elusive. To better understand the consequences of asynapsis in male carriers of Robertsonian translocations, we focused on the dynamics of recruitment of markers of asynapsis and meiotic silencing at unsynapsed autosomal trivalents in the spermatocytes of Robertsonian translocation carrier mice. Here we report that the enrichment of breast cancer 1 (BRCA1 and histone γH2AX at unsynapsed trivalents declines during the pachytene stage of meiosis and differs from that observed in the sex body. Furthermore, histone variant H3.3S31, which associates with the sex chromosomes in metaphase I/anaphase I spermatocytes, localizes to autosomes in 12% and 31% of nuclei from carriers of one and three translocations, respectively. These data suggest that the proportion of spermatocytes with markers of meiotic silencing of unsynapsed chromatin (MSUC at trivalents depends on both, the stage of meiosis and the number of translocations. This may explain some of the variability in phenotypic outcomes associated with Robertsonian translocations. In addition our data suggest that the dynamics of response to asynapsis in Robertsonian translocations differs from the response to sex chromosomal asynapsis in the male germ line.

  9. The study of chromosomal abnormalities and heteromorphism in couples with 2 or 3 recurrent abortions in Shahid Beheshti Hospital of Hamedan

    OpenAIRE

    Atefeh Asgari; Safieh Ghahremani; Solmaz Saeedi; Ebrahim Kamrani

    2013-01-01

    Background: Different studies show that chromosomal balance translocation in the parents can cause recurrent spontaneous abortions. Incidence of chromosomal translocation abnormalities in couples with repeated abortions is from 0% to 31%. Objective: The purpose of this research was studying the presence or absence of chromosomal abnormalities and heteromorphism in couples with recurrent abortions and also the role of this anomaly in the abortions. Materials and Methods: This study is a cross ...

  10. Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan.

    Science.gov (United States)

    Liao, Hsiao-Mei; Gau, Susan Shur-Fen; Tsai, Wen-Che; Fang, Jye-Siung; Su, Ying-Cheng; Chou, Miao-Chun; Liu, Shih-Kai; Chou, Wen-Jiun; Wu, Yu-Yu; Chen, Chia-Hsiang

    2013-10-01

    Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA.

  11. Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan.

    Science.gov (United States)

    Liao, Hsiao-Mei; Gau, Susan Shur-Fen; Tsai, Wen-Che; Fang, Jye-Siung; Su, Ying-Cheng; Chou, Miao-Chun; Liu, Shih-Kai; Chou, Wen-Jiun; Wu, Yu-Yu; Chen, Chia-Hsiang

    2013-10-01

    Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA. PMID:24132905

  12. The Meiotic Behavior of an Alien Chromosome in Triticum aestivum-Haynaldia villosa Monosomic Addition Lines

    Institute of Scientific and Technical Information of China (English)

    LI Rui-fen; LIANG Hong-xia; ZHAO Mao-lin

    2002-01-01

    By the combination of cytological analysis and using genomic in situ hybridization technique to identify an alien chromosome in wheat-Haynaldia villosa monosomic addition lines, we studied the meiotic behavior of the alien chromosome. The results indicated that the frequency of bivalent pairing was lower than the value expected in PMCs of two monosomic addition lines, the frequency of wheat chromosomes unpairing increased, and the wheat homologous chromosome pairing was interfered with by the added chromosome 6V at metaphase I. The chromosome 6V lagged in 20.3% -29.3% of PMCs, sister chromatids 6V early divided in 29.0% - 34.1% of PMCs, the single chromosome 6V in 18.2% - 26.1% of PMCs went to a pole randomly,the breakage frequency of chromosome 6V was 1.2% - 2.9%. Meanwhile, it was also found that several wheat chromosomes showed earlier division, lagging and breakage in a few PMCs. It revealed that the added chromosome 6V influenced the behavior of wheat chromosomes at anaphase. It was also found that the translocation was produced between 6V and wheat chromosomes in 1.2% of PMCs. It offered evidence for translocation between wheat and Haynaldia villosa 6V chromosomes.

  13. Usefulness of long-distance inverse polymerase chain reaction for molecular detection of 14q32 translocation in a clinical setting.

    OpenAIRE

    Ishizaki, Akiko; Sugahara, Kazuyuki; Tsuruda, Kazuto; Hasegawa, Hiroo; Yanagihara, Katsunori; Tsukasaki, Kunihiro; Yamada, Yasuaki; Kamihira, Shimeru

    2008-01-01

    All mature B-cell leukaemias and lymphomas have a clonal Ig gene recombination, and half of them have a reciprocal chromosomal translocation involving the 14q32 locus. The 14q32 translocation partners are variable, such as BCL-2, BCL-1 and BCL-6, thus accounting for the difficulty in molecular detection by the current genomic polymerase chain reaction (PCR) method. To identify B-cell clones efficiently with an Ig gene rearrangement and reciprocal inter-chromosomal translocation, we verified t...

  14. AN INTEGRATED MAP OF HUMAN-CHROMOSOME-13 ALLOWING REGIONAL LOCALIZATION OF GENETIC-MARKERS

    NARCIS (Netherlands)

    KOOY, RF; WIJNGAARD, A; VERLIND, E; SCHEFFER, H; BUYS, CHCM

    1995-01-01

    37 CA repeats, 5 STSs, 9 ESTs, and 4 genes were mapped to 19 different intervals of chromosome 13 determined by the cytogenetic breakpoints of 19 different cell lines with interstitial deletions or translocations involving various parts of chromosome 13. A framework genetic linkage map was construct

  15. The fragile Y hypothesis: Y chromosome aneuploidy as a selective pressure in sex chromosome and meiotic mechanism evolution.

    Science.gov (United States)

    Blackmon, Heath; Demuth, Jeffery P

    2015-09-01

    Loss of the Y-chromosome is a common feature of species with chromosomal sex determination. However, our understanding of why some lineages frequently lose Y-chromosomes while others do not is limited. The fragile Y hypothesis proposes that in species with chiasmatic meiosis the rate of Y-chromosome aneuploidy and the size of the recombining region have a negative correlation. The fragile Y hypothesis provides a number of novel insights not possible under traditional models. Specifically, increased rates of Y aneuploidy may impose positive selection for (i) gene movement off the Y; (ii) translocations and fusions which expand the recombining region; and (iii) alternative meiotic segregation mechanisms (achiasmatic or asynaptic). These insights as well as existing evidence for the frequency of Y-chromosome aneuploidy raise doubt about the prospects for long-term retention of the human Y-chromosome despite recent evidence for stable gene content in older non-recombining regions.

  16. High-resolution mapping of YACs and the single-copy gene Hs1(pro-1) on Beta vulgaris chromosomes by multi-colour fluorescence in situ hybridization.

    Science.gov (United States)

    Desel, C; Jung, C; Cai, D; Kleine, M; Schmidt, T

    2001-01-01

    Fluorescence in situ hybridization (FISH) is a powerful approach for physical mapping of DNA sequences along plant chromosomes. Nematode-resistant sugar beets (Beta vulgaris) carrying a Beta procumbens translocation were investigated by FISH with two differentially labelled YACs originating from the translocation. At mitotic metaphases, the translocation was identified with both YACs in the terminal region on a pair of chromosomes. Meiotic chromosomes, representing a far more extended hybridization target, were used to determine the orientation of YACs with respect to chromosomal domains in combination with chromosomal landmark probes for telomeres and centromeres. The in situ detection of plant single-copy sequences is technically difficult, and the wild beet translocation was used to explore the potential resolution of the FISH approach and to introduce the chromosomal mapping of single-copy genes into genome analysis of Beta species. An internal fragment of the nematode resistance gene Hs1(pro-1), 684 bp long, was detected on both chromatids of different Beta chromosomes and represents one of the shortest unique DNA sequences localized on mitotic plant chromosomes so far. Comparative chromosomal mapping of the 684 bp Hs1(pro-1) probe in the translocation line, a monosomic addition line and in B. procumbens revealed the origin of the wild beet translocation leading to nematode-resistant sugar beets.

  17. Y-chromosome polymorphism: Possible largest Y chromosome in man?

    Energy Technology Data Exchange (ETDEWEB)

    Murthy, D.S.K.; Al-Awadi, S.A.; Bastaki, L. [Kuwait Medical Genetics Centre, Sulaibikat (Kuwait)] [and others

    1994-09-01

    The role of variations (inversions/deletion or duplication) in the heterochromatin in gonadal development and function, reproductive fitness, and malignant disease has been extensively studied. However, the causal-relationship of large Y (Yqh+) and repeated fetal loss has not been established unequivocally. An Arab couple (?Bedouin origin) with a history of repeated abortions were investigated. Karyotype analysis of the husband showed a very large Y chromosome, confirmed by GTG-, QFQ- and CBG-banding techniques. C-banding showed discontinuous distribution of the heterochromatin blocks separated by pale bands. The origin of the large heterochromatin segment could be due to tandem duplication of the Yq region or translocation (Yq:Yq). No other relatives (males) of the propositus have been available for investigation. Polymorphism of the Y chromosome could be attributed to evolutionary changes from an ancestral type, either by deletion or duplication of the heterochromatin segment. More detailed studies on isolated, aboriginal/tribal human populations will enable us to better understand the significance of the Y chromosome polymorphism.

  18. The cryptic Y-autosome translocation in the small Indian mongoose, Herpestes auropunctatus, revealed by molecular cytogenetic approaches.

    Science.gov (United States)

    Murata, Chie; Sawaya, Hirohito; Nakata, Katsushi; Yamada, Fumio; Imoto, Issei; Kuroiwa, Asato

    2016-09-01

    In initial studies of the eutherian small Indian mongoose (Herpestes auropunctatus), the Y chromosome could not be identified in somatic cells. The male chromosome number is uniquely odd, 2n = 35, whereas that of females is 2n = 36. Previous reports indicated that this unique karyotype resulted from a translocation of the ancestral Y chromosome to an autosome. However, it has been difficult to identify the chromosomes that harbor the translocated Y chromosomal segment because it is an extremely small euchromatic region. Using a Southern blot analysis, we detected four conserved Y-linked genes, SRY, EIF2S3Y, KDM5D, and ZFY, in the male genome. We cloned homologues of these genes and determined their sequences, which showed high homology to genes in two carnivore species, cat and dog. To unambiguously identify the Y-bearing autosome, we performed immunostaining of pachytene spermatocytes using antibodies against SYCP3, γH2AX, and the centromere. We observed trivalent chromosomes, and the associations between the distal ends of the chromosomes were consistent with those of Y and X1 chromosomes. The centromere of the Y chromosome was located on the ancestral Y chromosomal segment. We mapped the complementary DNA (cDNA) clones of these genes to the male chromosomes using fluorescence in situ hybridization (FISH), and the linear localization of all genes was confirmed by two-colored FISH. These Y-linked genes were localized to the proximal region of the long arm of a single telomeric chromosome, and we successfully identified the chromosome harboring the ancestral Y chromosomal segment.

  19. Structural variation of chromosomes in autism spectrum disorder

    NARCIS (Netherlands)

    Marshall, Christian R.; Noor, Abdul; Vincent, John B.; Lionel, Anath C.; Feuk, Lars; Skaug, Jennifer; Shago, Mary; Moessner, Rainald; Pinto, Dalila; Ren, Yan; Thiruvahindrapduram, Bhoorna; Fiebig, Andreas; Schreiber, Stefan; Friedman, Jan; Ketelaars, Cees E. J.; Vos, Yvonne J.; Ficicioglu, Can; Kirkpatrick, Susan; Nicolson, Rob; Sloman, Leon; Surnmers, Anne; Gibbons, Clare A.; Teebi, Ahmad; Chitayat, David; Weksberg, Rosanna; Thompson, Ann; Vardy, Cathy; Crosbie, Vicki; Luscombe, Sandra; Baatjes, Rebecca; Zwaigenbaum, Lonnie; Roberts, Wendy; Fernandez, Bridget; Szatmari, Peter; Scherer, Stephen W.

    2008-01-01

    Structural variation (copy number variation [CNV] including deletion and duplication, translocation, inversion) of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is unknown. We performed genome-wide assessment for structural abnor

  20. A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1

    DEFF Research Database (Denmark)

    Buonincontri, Roberta; Bache, Iben; Silahtaroglu, Asli;

    2011-01-01

    Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re......-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region--at 15q21...... (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint....

  1. Molecular mapping of chromosomes 17 and X

    Energy Technology Data Exchange (ETDEWEB)

    Barker, D.F.

    1989-01-01

    The basic aims of this project are the construction of high density genetic maps of chromosomes 17 and X and the utilization of these maps for the subsequent isolation of a set of physically overlapping DNA segment clones. The strategy depends on the utilization of chromosome specific libraries of small (1--15 kb) segments from each of the two chromosomes. Since the time of submission of our previous progress report, we have refined the genetic map of markers which we had previously isolated for chromosome 17. We have completed our genetic mapping in CEPH reference and NF1 families of 15 markers in the pericentric region of chromosome 17. Physical mapping results with three probes, were shown be in very close genetic proximity to the NF1 gene, with respect to two translocation breakpoints which disrupt the activity of the gene. All three of the probes were found to lie between the centromere and the most proximal translocation breakpoint, providing important genetic markers proximal to the NF1 gene. Our primary focus has shifted to the X chromosome. We have isolated an additional 30 polymorphic markers, bringing the total number we have isolated to over 80. We have invested substantial effort in characterizing the polymorphisms at each of these loci and constructed plasmid subclones which reveal the polymorphisms for nearly all of the loci. These subclones are of practical value in that they produce simpler and stronger patterns on human genomic Southern blots, thus improving the efficiency of the genetic mapping experiments. These subclones may also be of value for deriving DNA sequence information at each locus, necessary for establishing polymerase chain reaction primers specific for each locus. Such information would allow the use of each locus as a sequence tagged site.

  2. Molecular cytogenetic studies in structural abnormalities of chromosome 13

    Energy Technology Data Exchange (ETDEWEB)

    Lozzio, C.B.; Bamberger, E.; Anderson, I. [Univ. of Tennessee, Knoxville, TN (United States)] [and others

    1994-09-01

    A partial trisomy 13 was detected prenatally in an amniocentesis performed due to the following ultrasound abnormalities: open sacral neural tube defect (NTD), a flattened cerebellum, and lumbar/thoracic hemivertebrae. Elevated AFP and positive acetylcholinesterase in amniotic fluid confirmed the open NTD. Chromosome analysis showed an extra acrocentric chromosome marker. FISH analysis with the painting probe 13 showed that most of the marker was derived from this chromosome. Chromosomes on the parents revealed that the mother had a balanced reciprocal translocation t(2;13)(q23;q21). Dual labeling with painting chromosomes 2 and 13 on cells from the mother and from the amniotic fluid identified the marker as a der(13)t(2;13)(p23;q21). Thus, the fetus had a partial trisomy 13 and a small partial trisomy 2p. The maternal grandfather was found to be a carrier for this translocation. Fetal demise occurred a 29 weeks of gestation. The fetus had open lumbar NTD and showed dysmorphic features, overlapping fingers and imperforate anus. This woman had a subsequent pregnancy and chorionic villi sample showed that this fetus was normal. Another case with an abnormal chromosome 13 was a newborn with partial monosomy 13 due to the presence of a ring chromosome 13. This infant had severe intrauterine growth retardation, oligohydramnios, dysmorphic features and multiple congenital microphthalmia, congenital heart disease, absent thumbs and toes and cervical vertebral anomalies. Chromosome studies in blood and skin fibroblast cultures showed that one chromosome 3 was replaced by a ring chromosome of various sizes. This ring was confirmed to be derived from chromosome 13 using the centromeric 21/13 probe.

  3. Cryptic t(4;11) encoding MLL-AF4 due to insertion of 5' MLL sequences in chromosome 4

    NARCIS (Netherlands)

    von Bergh, A; Gargallo, P; De Prijck, B; Vranckx, H; Marschalek, R; Larripa, I; Kluin, P; Schuuring, E; Hagemeijer, A

    2001-01-01

    The t(4;11) translocation is the cytogenetic hallmark of a subset of acute lymphoblastic leukemias characterized by pro-B immunophenotype and a dismal prognosis. This translocation fuses the MLL gene on chromosome band 11q23 and the AF4 gene on 4q21, resulting in the expression of fusion transcripts

  4. Chromosomal abnormalities in patients with sperm disorders

    Directory of Open Access Journals (Sweden)

    L. Y. Pylyp

    2013-02-01

    Full Text Available Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6% patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19, followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9. The frequency of inversions was 0.6% (n = 4. Gonosomal abnormalities included 14 cases

  5. Partial trisomy 11q involving chromosome 1 detected by fluorescence in situ hybridization

    Energy Technology Data Exchange (ETDEWEB)

    McCorquodale, M.; Bereziouk, O.; McCorquodale, D.J. [Univ. of Illinois College of Medicine, Chicago, IL (United States)] [and others

    1994-09-01

    Partial trisomy 11q was detected in an infant delivered 3-4 weeks prematurely. The phenotype included slanted palpebral fissures, high arched palate, developmental delay, microcephaly, and cardiac defects, all of which occur in the majority of cases with this syndrome. Other features included a column-shaped skull, preauricular pit, single palmar crease, short, broad great toes, flat occiput, unilateral kidney agenesis, and strabismus. Chromosomes obtained from peripheral blood cells revealed the presence of extra material on the long arm of chromosome 1. The G-banding pattern of this extra material indicated that it might be derived from chromosome 1 or 11. Chromosomal {open_quotes}paints{close_quotes} showed that it was not chromosome 1 material, but was chromosome 11 material extending from band q21 to qter. Partial trisomy 11q arising from translocation of the 11q material to chromosome 2, 3, 4, 5, 6, 9, 10, 13, 17, 21, 22, and X has been reported previously, whereas translocation to chromosome 1 has not. The chromosome to which the 11q material is translocated does not alter the most frequent features of the partial trisomy 11q syndrome, but may influence other less common features.

  6. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

    Directory of Open Access Journals (Sweden)

    Frenny J Sheth

    2013-01-01

    Full Text Available Background: Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages. Purpose: The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes. Materials and Methods: A retrospective cytogenetic study was carried out on 4859 individuals having a history of recurrent miscarriages. The cases were analyzed using G-banding and fluorescence in situ hybridization wherever necessary. Results: Chromosomal rearrangements were found in 170 individuals (3.5%. Translocations were seen in 72 (42.35% cases. Of these, reciprocal translocations constituted 42 (24.70% cases while Robertsonian translocations were detected in 30 (17.64% cases. 7 (4.11% cases were mosaic, 8 (4.70% had small supernumerary marker chromosomes and 1 (0.6% had an interstitial microdeletion. Nearly, 78 (1.61% cases with heteromorphic variants were seen of which inversion of Y chromosome (57.70% and chromosome 9 pericentromeric variants (32.05% were predominantly involved. Conclusions: Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options.

  7. Chromosome 12;15 rearrangements in patients with recurrent miscarriage

    Directory of Open Access Journals (Sweden)

    Nair S

    2006-01-01

    Full Text Available Background: An abnormal karyotype in either partner, especially featuring a translocation and/or inversion is considered to be a cause of recurrent miscarriages. It is generally assumed that recurrent miscarriage might be due to recurrent chromosomal abnormalities in the fetus due to a balanced aberration in one of the parents being inherited by the offspring in an unbalanced form. Aim: Evaluation of chromosomal rearrangements in couples with recurrent miscarriages. Materials and Methods: Peripheral blood was collected and lymphocyte cultures were set up. Slides prepared from the cell suspension were stained and screened for metaphases followed by karyotyping. Result: Balanced translocation was observed in the male partner in one case and in the female partners in the three other cases. Conclusion: Couples with recurrent miscarriage should be investigated for chromosomal rearrangements, thus helping in genetic counseling and providing the options for future pregnancies.

  8. Fast, DNA-sequence independent translocation by FtsK in a single-molecule experiment

    OpenAIRE

    Saleh, Omar A; Pérals, Corine; Barre, François-Xavier; Allemand, Jean-François

    2004-01-01

    Escherichia coli FtsK is an essential cell division protein, which is thought to pump chromosomal DNA through the closing septum in an oriented manner by following DNA sequence polarity. Here, we perform single-molecule measurements of translocation by FtsK50C, a derivative that functions as a DNA translocase in vitro. FtsK50C translocation follows Michaelis–Menten kinetics, with a maximum speed of ∼6.7 kbp/s. We present results on the effect of applied force on the speed, distance translocat...

  9. [Chromosome composition of wheat-rye lines and the influence of rye chromosomes on disease resistance and agronomic traits].

    Science.gov (United States)

    Chumanova, E V; Efremova, T T; Trubacheeva, N V; Arbuzova, V S; Rosseeva, L P

    2014-11-01

    Identification of the chromosomal composition of common wheat lines with rye chromosomes was carried out using genomic in situ hybridization and 1RS- and 5P-specific PCR markers. It was demonstrated that wheat chromosomes 5A or 5D were substituted by rye chromosome 5R in the wheat-rye lines. It was established that one of the lines with complex disease resistance contained rye chromosome 5R and T1RS.1BL, while another line was found to contain, in addition to T1RS.1BL, a new Robertsonian translocation, T5AS.5RL. Substitution of the wheat chromosome 5A with the dominant Vrn-A1 gene for the Onokhoiskaya rye chromosome 5R led to lengthening of the germination-heading period or to a change in the type of development. A negative influence of T1RS.1BL on SDS sedimentation volume and grain hardness was demonstrated, along with a positive effect of the combination of T1RS. BL and 5R(5D) substitution on grain protein content. Quantitative traits of the 5R(5A) and 5R(5D) substitution lines were at the level of recipient cultivars. A line with two translocations, T1RS.1BL + T5AS.5R1, appeared to be more productive as compared to the line carrying T1RS.1BL in combination with the 5R(5D) substitution.

  10. DNA Translocation through Graphene Nanopores

    CERN Document Server

    Schneider, Grégory F; Calado, Victor E; Pandraud, Grégory; Zandbergen, Henny W; Vandersypen, Lieven M K; Dekker, Cees

    2010-01-01

    Nanopores -- nanosized holes that can transport ions and molecules -- are very promising devices for genomic screening, in particular DNA sequencing. Both solid-state and biological pores suffer from the drawback, however, that the channel constituting the pore is long, viz. 10-100 times the distance between two bases in a DNA molecule (0.5 nm for single-stranded DNA). Here, we demonstrate that it is possible to realize and use ultrathin nanopores fabricated in graphene monolayers for single-molecule DNA translocation. The pores are obtained by placing a graphene flake over a microsize hole in a silicon nitride membrane and drilling a nanosize hole in the graphene using an electron beam. As individual DNA molecules translocate through the pore, characteristic temporary conductance changes are observed in the ionic current through the nanopore, setting the stage for future genomic screening.

  11. Suitability of amphibians and reptiles for translocation.

    Science.gov (United States)

    Germano, Jennifer M; Bishop, Phillip J

    2009-02-01

    Translocations are important tools in the field of conservation. Despite increased use over the last few decades, the appropriateness of translocations for amphibians and reptiles has been debated widely over the past 20 years. To provide a comprehensive evaluation of the suitability of amphibians and reptiles for translocation, we reviewed the results of amphibian and reptile translocation projects published between 1991 and 2006. The success rate of amphibian and reptile translocations reported over this period was twice that reported in an earlier review in 1991. Success and failure rates were independent of the taxonomic class (Amphibia or Reptilia) released. Reptile translocations driven by human-wildlife conflict mitigation had a higher failure rate than those motivated by conservation, and more recent projects of reptile translocations had unknown outcomes. The outcomes of amphibian translocations were significantly related to the number of animals released, with projects releasing over 1000 individuals being most successful. The most common reported causes of translocation failure were homing and migration of introduced individuals out of release sites and poor habitat. The increased success of amphibian and reptile translocations reviewed in this study compared with the 1991 review is encouraging for future conservation projects. Nevertheless, more preparation, monitoring, reporting of results, and experimental testing of techniques and reintroduction questions need to occur to improve translocations of amphibians and reptiles as a whole. PMID:19143783

  12. Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

    OpenAIRE

    Plomp, A.S.; Engelen, J.J.; Albrechts, J C; de Die-Smulders, C E; Hamers, A J

    1998-01-01

    We report on two mentally retarded adults with an unbalanced karyotype resulting from a familial balanced translocation between chromosomes 8 and 21, t(8;21)(p21.1;q22.3). This translocation has not been reported before. Both patients had partial trisomy 8p and partial monosomy 21q. Fluorescence in situ hybridisation (FISH) was used to determine the chromosomal breakpoints more precisely. The first patient showed mild mental retardation and facial dysmorphism, slightly resembling the earlier ...

  13. Myeloid cell differentiation arrest by miR-125b-1 in myelodysplasic syndrome and acute myeloid leukemia with the t(2;11)(p21;q23) translocation

    NARCIS (Netherlands)

    M. Bousquet (Marina); C. Quelen (Cathy); R. Rosati (Roberto); V.M.D. Mas; R.L. Starza (Roberta); C. Bastard (Christian); E. Lippert (Eric); P. Talmant (Pascaline); M. Lafage-Pochitaloff (Marina); D. Leroux (Dominique); C. Gervais (Carine); F. Viguié (Franck); J.L. Lai; C. Terre (Christine); H.B. Beverloo (Berna); C. Sambani (Costantina); A. Hagemeijer (Anne); P. Marynen (Peter); G. Delsol (Georges); N. Dastugue (Nicole); C. Mecucci (Cristina); P. Brousset (Pierre)

    2008-01-01

    textabstractMost chromosomal translocations in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) involve oncogenes that are either up-regulated or form part of new chimeric genes. The t(2;11)(p21;q23) translocation has been cloned in 19 cases of MDS and AML. In addition to this, we ha

  14. Chromosomal rearrangements and the pathogenesis of differentiated thyroid cancer

    Directory of Open Access Journals (Sweden)

    Stefan K.G. Grebe

    2011-12-01

    Full Text Available The majority of thyroid cancers arise from the follicular cells of the thyroid gland, which yield a wide variety of distinct morphotypes, ranging from relatively indolent lesions to the most malignant forms of cancer known. The remaining primary thyroid cancers arise from C cells within the gland and result primarily from mutations of the RET protooncogene, germ line mutations of which give rise to the various forms of multiple endocrine neoplasia. The most common of the follicular cell-derived cancers are papillary carcinomas, (PTC, followed by follicular carcinomas (FTC and its Hurthle cell variant (HCC and finally anaplastic carcinomas (ATC. The pathogenesis of many thyroid cancers, of both PTC and FTC morphotype, involves chromosomal translocations. Rearrangements of the RET protoconcogene are known to be involved in the pathogenesis of ca. 50% of PTC. A similar proportion of FTC have been associated with a t(2;3(q13;p25 translocation, fusing the thyroid-specific transcription factor PAX8 with the peroxisome proliferator-activated receptor gamma (PPARγ nuclear receptor, a ubiquitously expressed transcription factor. These rearrangements have analogy with translocations in erythropoetic cells, which form the only other known group of human malignancies that are largely the result of chromosomal translocation events. In this review we compare and contrast the oncogenic properties of thyroid and erythroid chromosomal transformations and speculate on mechanisms leading to their formation.

  15. Chromosome painting and prematurely condensed chromosomes (PCC) - new methods of biological dosimetry

    International Nuclear Information System (INIS)

    Classic methods of biological dosimetry - micronucleus and dicentric assay pose several problems. In the case of micronucleus there is a wide range of spontaneous frequencies and smoking and age are powerfull contributing factors. In the case of dicentrics - low mitotic index in some individuals especially in the elderly or accidentally exposed to high radiation doses. So, there are 2 quite new molecular techniques which at least in part solve these problems: chromosome painting and PCC. Chromosome painting by employing chromosome-specific DNA probes allow easy identification and quantification of translocations. recently, it was shown that calyculin A or okadaic acid, inhibitors of 1 and 2A protein phosphatases, induce PCC in peripheral blood cells. This is an easy biodosimetric method with a high PCC index and independent of the ability of cells to divide e.g. after high (20 Gy) doses when the mitotic index is extremely low. (author)

  16. Determinants of the t(14;18) translocation and their role in t(14;18)-positive follicular lymphoma

    NARCIS (Netherlands)

    Kelly, Rachel S.; Roulland, Sandrine; Morgado, Ester; Sungalee, Stéphanie; Jouve, Nathalie; Tumino, Rosario; Krogh, Vittorio; Panico, Salvatore; Polidoro, Silvia; Masala, Giovanna; Sánchez, María José; Chirlaque, Maria Dolores; Sala, Núria; Gurrea, Aurelio Barricarte; Dorronsoro, Miren; Travis, Ruth C.; Riboli, Elio; Gunter, Marc; Murphy, Neil; Vermeulen, Roel; Bueno-de-Mesquita, H. B.; Peeters, Petra H.; Trichopoulou, Antonia; Trichopoulos, Dimitrios; Lagiou, Pagona; Nieters, Alexandra; Canzian, Federico; Kaaks, Rudolf; Boeing, Heiner; Weiderpass, Elisabete; Stocks, Tanja; Melin, Beatrice; Overvad, Kim; Tjønneland, Anne; Olsen, Anja; Brennan, Paul; Johansson, Mattias; Nadel, Bertrand; Vineis, Paolo

    2015-01-01

    Purpose: The strong association between t(14;18) translocation and follicular lymphoma (FL) is well known. However, the determinants of this chromosomal aberration and their role in t(14;18) associated FL remain to be established. Methods: t(14;18) frequency within the B cell lymphoma 2 major breakp

  17. Determinants of the t(14;18) translocation and their role in t(14;18)-positive follicular lymphoma

    NARCIS (Netherlands)

    Kelly, Rachel S; Roulland, Sandrine; Morgado, Ester; Sungalee, Stéphanie; Jouve, Nathalie; Tumino, Rosario; Krogh, Vittorio; Panico, Salvatore; Polidoro, Silvia; Masala, Giovanna; Sánchez, María-José; Chirlaque, Maria-Dolores; Sala, Núria; Gurrea, Aurelio Barricarte; Dorronsoro, Miren; Travis, Ruth C; Riboli, Elio; Gunter, Marc; Murphy, Neil; Vermeulen, Roel; Bueno-de-Mesquita, H B; Peeters, Petra H; Trichopoulou, Antonia; Trichopoulos, Dimitrios; Lagiou, Pagona; Nieters, Alexandra; Canzian, Federico; Kaaks, Rudolf; Boeing, Heiner; Weiderpass, Elisabete; Stocks, Tanja; Melin, Beatrice; Overvad, Kim; Tjønneland, Anne; Olsen, Anja; Brennan, Paul; Johansson, Mattias; Nadel, Bertrand; Vineis, Paolo

    2015-01-01

    PURPOSE: The strong association between t(14;18) translocation and follicular lymphoma (FL) is well known. However, the determinants of this chromosomal aberration and their role in t(14;18) associated FL remain to be established. METHODS: t(14;18) frequency within the B cell lymphoma 2 major breakp

  18. Interstitial deletion 1p as a result of a de novo reciprocal 1p;2p translocation

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Jensen, P H

    1985-01-01

    A 5-month-old female patient with psychomotor retardation and minor dysmorphisms is described. Cytogenetic analysis using high-resolution banding technique revealed an interstitial deletion of the short arm of one chromosome 1 (p21----p22.2) resulting from a de novo translocation t(1;2)(p22;p25)....

  19. Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A

    DEFF Research Database (Denmark)

    Møller, Rikke S; Schneider, Lizette M; Hansen, Christian P;

    2008-01-01

    In a patient with severe myoclonic epilepsy of infancy (SMEI), we identified a de novo balanced translocation, t(2;5)(q24.3,q34). The breakpoint on chromosome 2q24.3 truncated the SCN1A gene and the 5q34 breakpoint was within a highly conserved genomic region. Point mutations or microdeletions of...

  20. Detection by the fluorescence in situ hybridization technique of MYC translocations in paraffin-embedded lymphoma biopsy samples

    NARCIS (Netherlands)

    Haralambieva, E; Banham, AH; Bastard, C; Delsol, G; Gaulard, P; Ott, G; Pileri, S; Fletcher, JA; Mason, DY

    2003-01-01

    The detection of chromosomal translocations by fluorescence in situ hybridization (FISH) is widely performed, but very few studies have attempted to apply this technique to paraffin-embedded routine biopsy samples. We report the analysis of paraffin sections from 36 B-cell lymphoma biopsies for MYC

  1. Chromosomal imbalances revealed in primary rhabdomyosarcomas by comparative genomic hybridization

    Institute of Scientific and Technical Information of China (English)

    LI Qiao-xin; LIU Chun-xia; CHUN Cai-pu; QI Yan; CHANG Bin; LI Xin-xia; CHEN Yun-zhao; NONG Wei-xia; LI Hong-an; LI Feng

    2009-01-01

    Background Previous cytogenetic studies revealed aberrations varied among the throe subtypes of rhabdomyosarcoma. We profiled chromosomal imbalances in the different subtypes and investigated the relationships between clinical parameters and genomic aberrations.Methods Comparative genomic hybridization was used to investigate genomic imbalances in 25 cases of primary rhabdomyosarcomas and two rhabdomyosarcoma cell lines. Specimens were reviewed to determine histological type, pathological grading and clinical staging.Results Changes involving one or more regions of the genome were seen in all rhabdomyosarcomal patients. For rhabdomyosarcoma, DNA sequence gains were most frequently (>30%) seen in chromosomes 2p, 12q, 6p, 9q, 10q, 1p,2q, 6q, 8q, 15q and 18q; losses from 3p, 11p and 6p. In aggressive alveolar rhabdomyosarcoma, frequent gains were seen on chromosomes 12q, 2p, 6p, 2q, 4q, 10q and 15q; losses from 3p, 6p, 1q and 5q. For embryonic rhabdomyosarcoma, frequent gains were on 7p, 9q, 2p, 18q, 1p and 8q; losses only from 11p. Frequently gained chromosome arms of translocation associated with rhabdomyosarcoma were 12q, 2, 6, 10q, 4q and 15q; losses from 3p,6p and 5q. The frequently gained chromosome arms of nontranslocation associated with rhabdomyosarcoma were 2p,9q and 18q, while 11p and 14q were the frequently lost chromosome arms. Gains on chromosome 12q were significantly correlated with translocation type. Gains on chromosome 9q were significantly correlated with clinical staging. Conclusions Gains on chromosomes 2p, 12q, 6p, 9q, 10q, 1p, 2q, 6q, 8q, 15q and 18q and losses on chromosomes 3p, 11p and 6p may be related to rhabdomyosarcomal carcinogenesis. Furthermore, gains on chromosome 12q may be correlated with translocation and gains on chromosome 9q with the early stages of rhabdomyosarcoma.

  2. Karyotype evolution in apomictic Boechera and the origin of the aberrant chromosomes.

    Science.gov (United States)

    Mandáková, Terezie; Schranz, M Eric; Sharbel, Timothy F; de Jong, Hans; Lysak, Martin A

    2015-06-01

    Chromosome rearrangements may result in both decrease and increase of chromosome numbers. Here we have used comparative chromosome painting (CCP) to reconstruct the pathways of descending and ascending dysploidy in the genus Boechera (tribe Boechereae, Brassicaceae). We describe the origin and structure of three Boechera genomes and establish the origin of the previously described aberrant Het and Del chromosomes found in Boechera apomicts with euploid (2n = 14) and aneuploid (2n = 15) chromosome number. CCP analysis allowed us to reconstruct the origin of seven chromosomes in sexual B. stricta and apomictic B. divaricarpa from the ancestral karyotype (n = 8) of Brassicaceae lineage I. Whereas three chromosomes (BS4, BS6, and BS7) retained their ancestral structure, five chromosomes were reshuffled by reciprocal translocations to form chromosomes BS1-BS3 and BS5. The reduction of the chromosome number (from x = 8 to x = 7) was accomplished through the inactivation of a paleocentromere on chromosome BS5. In apomictic 2n = 14 plants, CCP identifies the largely heterochromatic chromosome (Het) being one of the BS1 homologues with the expansion of pericentromeric heterochromatin. In apomictic B. polyantha (2n = 15), the Het has undergone a centric fission resulting in two smaller chromosomes - the submetacentric Het' and telocentric Del. Here we show that new chromosomes can be formed by a centric fission and can be fixed in populations due to the apomictic mode of reproduction.

  3. Robertsonian (15q;15q) translocation in a child with Angelman syndrome: Evidence of uniparental disomy

    Energy Technology Data Exchange (ETDEWEB)

    Tonk, V.; Schultz, R.A.; Wilson, G.N.; Schultz, R.A. [Univ. of Texas Southwestern Medical Center, Dallas, TX (United States)] [and others

    1996-12-30

    A balanced Robertsonian translocation 45,XY,t(15q15q) was detected in a patient with mental retardation, microcephaly, and hypertonia. Deletion of the 15q11q13 region was unlikely based on fluorescence in situ hybridization studies that revealed hybridization of appropriate DNA probes to both arms of the Robertsonian chromosome. Inheritance of alleles from 13 highly polymorphic DNA markers on chromosome 15 showed paternal uniparental isodisomy. The clinical, cytogenetic, and molecular results are consistent with a diagnosis of Angelman syndrome. 8 refs., 3 figs.

  4. Problems with mitigation translocation of herpetofauna.

    Science.gov (United States)

    Sullivan, Brian K; Nowak, Erika M; Kwiatkowski, Matthew A

    2015-02-01

    Mitigation translocation of nuisance animals is a commonly used management practice aimed at resolution of human-animal conflict by removal and release of an individual animal. Long considered a reasonable undertaking, especially by the general public, it is now known that translocated subjects are negatively affected by the practice. Mitigation translocation is typically undertaken with individual adult organisms and has a much lower success rate than the more widely practiced conservation translocation of threatened and endangered species. Nonetheless, the public and many conservation practitioners believe that because population-level conservation translocations have been successful that mitigation translocation can be satisfactorily applied to a wide variety of human-wildlife conflict situations. We reviewed mitigation translocations of reptiles, including our own work with 3 long-lived species (Gila monsters [Heloderma suspectum], Sonoran desert tortoises [Gopherus morafkai], and western diamond-backed rattlesnakes [Crotalus atrox]). Overall, mitigation translocation had a low success rate when judged either by effects on individuals (in all studies reviewed they exhibited increased movement or increased mortality) or by the success of the resolution of the human-animal conflict (translocated individuals often returned to the capture site). Careful planning and identification of knowledge gaps are critical to increasing success rates in mitigation translocations in the face of increasing pressure to find solutions for species threatened by diverse anthropogenic factors, including climate change and exurban and energy development. PMID:25040040

  5. Close proximity to Igh is a contributing factor to AID-mediated translocations.

    Science.gov (United States)

    Rocha, Pedro P; Micsinai, Mariann; Kim, JungHyun Rachel; Hewitt, Susannah L; Souza, Patricia P; Trimarchi, Thomas; Strino, Francesco; Parisi, Fabio; Kluger, Yuval; Skok, Jane A

    2012-09-28

    Class switch recombination (CSR) has the potential to generate genomic instability in B cells as activation-induced cytidine deaminase (AID), which mediates this process, is known to target many sites outside Igh. Nonetheless we do not fully understand what factors influence AID targeting genome-wide. Given that errors in CSR can lead to dangerous, oncogenic chromosomal translocations it is important to identify the elements that determine which genes are at risk of being "hit" and could be involved in aberrant rearrangements. Here we have investigated the influence of nuclear organization in determining "off-target" activity and the choice of fusion partners. Our studies indicate that the vast majority of known AID-mediated Igh translocation partners are found in chromosomal domains that contact this locus during class switching. Further, these interaction domains can be used to identify other genes that are hit by AID.

  6. The Philadelphia chromosome in leukemogenesis

    Institute of Scientific and Technical Information of China (English)

    ZhiJieKang; JinSongYan; QuentinLiu; YuFeiLiu; LingZhiXu; ZiJieLong; DanHuang; YaYang; BingLiu; JiuXingFeng; YuJiaPan

    2016-01-01

    The truncated chromosome 22 that results from the reciprocal translocation t(9;22)(q34;q11) is known as the Phila‑delphia chromosome (Ph) and is a hallmark of chronic myeloid leukemia (CML). In leukemia cells, Ph not only impairs the physiological signaling pathways but also disrupts genomic stability. This aberrant fusion gene encodes the breakpoint cluster region‑proto‑oncogene tyrosine‑protein kinase (BCR‑ABL1) oncogenic protein with persistently enhanced tyrosine kinase activity. The kinase activity is responsible for maintaining proliferation, inhibiting differentia‑tion, and conferring resistance to cell death. During the progression of CML from the chronic phase to the accelerated phase and then to the blast phase, the expression patterns of different BCR‑ABL1 transcripts vary. Each BCR‑ABL1 transcript is present in a distinct leukemia phenotype, which predicts both response to therapy and clinical outcome. Besides CML, the Ph is found in acute lymphoblastic leukemia, acute myeloid leukemia, and mixed‑phenotype acute leukemia. Here, we provide an overview of the clinical presentation and cellular biology of different phenotypes of Ph‑positive leukemia and highlight key ifndings regarding leukemogenesis.

  7. Chromosome synapsis and recombination in simple and complex chromosomal heterozygotes of tuco-tuco (Ctenomys talarum: Rodentia: Ctenomyidae).

    Science.gov (United States)

    Basheva, Ekaterina A; Torgasheva, Anna A; Gomez Fernandez, Maria Jimena; Boston, Emma; Mirol, Patricia; Borodin, Pavel M

    2014-09-01

    The chromosomal speciation hypothesis suggests that irregularities in synapsis, recombination, and segregation in heterozygotes for chromosome rearrangements may restrict gene flow between karyotypically distinct populations and promote speciation. Ctenomys talarum is a South American subterranean rodent inhabiting the coastal regions of Argentina, whose populations polymorphic for Robertsonian and tandem translocations seem to have a very restricted gene flow. To test if chromosomal differences are involved in isolation among its populations, we examined chromosome pairing, recombination, and meiotic silencing of unsynapsed chromatin in male meiosis of simple and complex translocation heterozygotes using immunolocalization of the MLH1 marking mature recombination nodules and phosphorylated histone γH2A.X marking unrepaired double-strand breaks. We observed small asynaptic areas labeled by γH2A.X in pericentromeric regions of the chromosomes involved in the trivalents and quadrivalents. We also observed a decrease of recombination frequency and a distalization of the crossover distribution in the heterozygotes and metacentric homozygotes compared to acrocentric homozygotes. We suggest that the asynapsis of the pericentromeric regions are unlikely to induce germ cell death and decrease fertility of the heterozygotes; however, suppressed recombination in pericentromeric areas of the multivalents may reduce gene flow between chromosomally different populations of the Talas tuco-tuco. PMID:24924853

  8. Rapid chromosome evolution in recently formed polyploids in Tragopogon (Asteraceae.

    Directory of Open Access Journals (Sweden)

    K Yoong Lim

    Full Text Available BACKGROUND: Polyploidy, frequently termed "whole genome duplication", is a major force in the evolution of many eukaryotes. Indeed, most angiosperm species have undergone at least one round of polyploidy in their evolutionary history. Despite enormous progress in our understanding of many aspects of polyploidy, we essentially have no information about the role of chromosome divergence in the establishment of young polyploid populations. Here we investigate synthetic lines and natural populations of two recently and recurrently formed allotetraploids Tragopogon mirus and T. miscellus (formed within the past 80 years to assess the role of aberrant meiosis in generating chromosomal/genomic diversity. That diversity is likely important in the formation, establishment and survival of polyploid populations and species. METHODOLOGY/PRINCIPAL FINDINGS: Applications of fluorescence in situ hybridisation (FISH to natural populations of T. mirus and T. miscellus suggest that chromosomal rearrangements and other chromosomal changes are common in both allotetraploids. We detected extensive chromosomal polymorphism between individuals and populations, including (i plants monosomic and trisomic for particular chromosomes (perhaps indicating compensatory trisomy, (ii intergenomic translocations and (iii variable sizes and expression patterns of individual ribosomal DNA (rDNA loci. We even observed karyotypic variation among sibling plants. Significantly, translocations, chromosome loss, and meiotic irregularities, including quadrivalent formation, were observed in synthetic (S(0 and S(1 generations polyploid lines. Our results not only provide a mechanism for chromosomal variation in natural populations, but also indicate that chromosomal changes occur rapidly following polyploidisation. CONCLUSIONS/SIGNIFICANCE: These data shed new light on previous analyses of genome and transcriptome structures in de novo and establishing polyploid species. Crucially our

  9. Dynamics of Response to Asynapsis and Meiotic Silencing in Spermatocytes from Robertsonian Translocation Carriers

    OpenAIRE

    Naumova, Anna K.; Shawn Fayer; Jacky Leung; Boateng, Kingsley A.; R Daniel Camerini-Otero; Teruko Taketo

    2013-01-01

    Failure of homologous synapsis during meiotic prophase triggers transcriptional repression. Asynapsis of the X and Y chromosomes and their consequent silencing is essential for spermatogenesis. However, asynapsis of portions of autosomes in heterozygous translocation carriers may be detrimental for meiotic progression. In fact, a wide range of phenotypic outcomes from meiotic arrest to normal spermatogenesis have been described and the causes of such a variation remain elusive. To better unde...

  10. Klinefelter syndrome and other sex chromosomal aneuploidies

    Directory of Open Access Journals (Sweden)

    Graham John M

    2006-10-01

    Full Text Available Abstract The term Klinefelter syndrome (KS describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH, and luteinizing hormone (LH. The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ decrease of approximately 15–16 points, with language most affected

  11. Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs.

    OpenAIRE

    Nakamura, T.(International Center for Elementary Particle Physics and Department of Physics, The University of Tokyo, Tokyo, Japan); Alder, H; Y. Gu; R. Prasad; Canaani, O; Kamada, N; Gale, R P; Lange, B; Crist, W M; Nowell, P C

    1993-01-01

    Chromosome translocations involving band 11q23 are associated with human acute leukemias. These translocations fuse the ALL-1 gene, homolog of Drosophila trithorax and located at chromosome band 11q23, to genes from a variety of chromosomes. We cloned and sequenced cDNAs derived from transcripts of the AF-4 and AF-9 genes involved in the most common chromosome abnormalities, t(4:11)(q21:q23) and t(9:11)(p22:q23), respectively. Sequence analysis indicates high homology between the AF-9 gene pr...

  12. Undetected sex chromosome aneuploidy by chromosomal microarray.

    Science.gov (United States)

    Markus-Bustani, Keren; Yaron, Yuval; Goldstein, Myriam; Orr-Urtreger, Avi; Ben-Shachar, Shay

    2012-11-01

    We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations. Such a possibility should be taken into consideration in similar cases where CMA is used in a clinical setting.

  13. Correlation of chromosome patterns in human leukemic cells with exposure to chemicals and/or radiation

    International Nuclear Information System (INIS)

    This document lists the major accomplishments funded by DOE in the period of January 1989 through June 1991. Specific topics covered include: studies of chromosome translocations in patients with Acute Myeloid Leukemia (AML) de novo; correlation of karyotype and therapeutic response; the relationship of specific chromosomal abnormalities to a patient's occupational history; definition of regions on chromosome 5 involved in leukemogenesis; the influence of pervious chemotherapy on leukemogenesis; identification of genes at or near breakpoints involved in leukemia and lymphoma; identification of the critical rearrangement in the 9;11 translocation; molecular analysis of translocations involving 11q23; identification of other genes (like RAS) involved in leukemogenesis; development of fluorescence in situ hybridization as a cytogenetic tool; and examination of an unequivocal case of radiation induced preleukemia. 26 refs., 8 figs., 6 tabs

  14. Plummer Vinson syndrome in a male and his chromosomal study – A case report

    Directory of Open Access Journals (Sweden)

    Santosh K. Swain

    2015-07-01

    Full Text Available Plummer Vinson syndrome (PVS is a triad of iron deficiency anemia, esophageal web and dysphagia. The exact etiology of PVS remains controversial but it has been associated with nutritional deficiency, autoimmune disorders, hereditary factors and remarkable high female predominance. This paper reports an atypical presentation of PVS in a 38 year old Indian male with special emphasis given on chromosomal analysis. Chromosomal assessment is done as it is a good predictor of the possibility of development of post-cricoid carcinoma (PCC in patients with PVS. Chromosomal aberrations like translocation, gain, loss, breakpoints and duplications are studied and they revealed normal male chromosomal pairing.

  15. Translocations affecting human immunoglobulin heavy chain locus

    Directory of Open Access Journals (Sweden)

    Sklyar I. V.

    2014-03-01

    Full Text Available Translocations involving human immunoglobulin heavy chain (IGH locus are implicated in different leukaemias and lymphomas, including multiple myeloma, mantle cell lymphoma, Burkitt’s lymphoma and diffuse large B cell lymphoma. We have analysed published data and identified eleven breakpoint cluster regions (bcr related to these cancers within the IgH locus. These ~1 kbp bcrs are specific for one or several types of blood cancer. Our findings could help devise PCR-based assays to detect cancer-related translocations, to identify the mechanisms of translocations and to help in the research of potential translocation partners of the immunoglobulin locus at different stages of B-cell differentiation.

  16. Trisomy 8p (p11.2-pter due to maternal translocation t(8;13(p11;p12 in a child with dysmorphic features

    Directory of Open Access Journals (Sweden)

    Mahjoubi F

    2005-01-01

    Full Text Available Here we present a phenotypic description of a male child with trisomy 8p resulting from a maternal balanced reciprocal translocation. The patient presented with dysmorphic face, aplasia of the corpus callosum, and atrophy of cortex, congenital heart defect and marked hypotonia. The father had a normal karyotype. The mother had an apparently balanced translocation involving chromosomes 8 and 13 [46, XX, t(8;13(p11.2;p12]. The karyotype of the child was ascertained as 46, XY, der(13t(8;13(p11.2;p12. This is the second reported case of trisomy 8p resulting from a translocation between chromosomes 8 and 13. The chromosomal breakpoints in the two cases differed.

  17. A correlative study on the frequencies of radiation-induced chromosome aberrations in somatic and germ cells of mammals

    International Nuclear Information System (INIS)

    A series of investigations on the correlation between the frequencies of radiation-induced chromosome aberrations in somatic and germ cells of mouse and rhesus monkey is described. In the mouse the induction of reciprocal translocations in bone-marrow cells was compared with that in spermatogonia (as scored in the descending spermatocytes). In the rhesus monkey frequencies of radiation-induced chromosome aberrations in spermatogonia and peripheral blood lymphocytes were studied. Furthermore the effect of multigeneration irradiation (69 generations with 200 rads X-rays) on the sensitivity for translocation induction in spermatogonia of male mice was studied. Frequencies of dicentric chromosomes and chromosomal deletions in cultured peripheral blood lymphocytes of 5 different types of mice were determined following in vitro irradiation with doses of 100 and/or 200 rad X-rays. To obtain more insight into the processes underlying translocation induction in spermatogonia of the mouse, fractionation experiments were conducted

  18. Changes in metal levels and chromosome aberrations in the peripheral blood of patients after metal-on-metal hip arthroplasty.

    Science.gov (United States)

    Ladon, Dariusz; Doherty, Ann; Newson, Roger; Turner, Justine; Bhamra, Manjit; Case, C Patrick

    2004-12-01

    A prospective study was performed to investigate changes in metal levels and chromosome aberrations in patients within 2 years of receiving metal-on-metal hip arthroplasties. There was a statistically significant increase of cobalt and chromium concentrations, with a small increase in molybdenum, in whole blood at 6, 12, and 24 months after surgery. There was also a statistically significant increase of both chromosome translocations and aneuploidy in peripheral blood lymphocytes at 6, 12, and 24 months after surgery. The changes were generally progressive with time, but the change in aneuploidy was much greater than in chromosome translocations. No statistically significant correlations were found in secondary analyses between chromosome translocation indices and cobalt or chromium concentration in whole blood. Although the clinical consequences of these changes, if any, are unknown, future epidemiological studies could usefully include direct comparisons of patients with implants of different composition.

  19. Preimplantation Genetic Diagnosis and Natural Conception: A Comparison of Live Birth Rates in Patients with Recurrent Pregnancy Loss Associated with Translocation

    OpenAIRE

    Shinichiro Ikuma; Takeshi Sato; Mayumi Sugiura-Ogasawara; Motoi Nagayoshi; Atsushi Tanaka; Satoru Takeda

    2015-01-01

    Background Established causes of recurrent pregnancy loss (RPL) include antiphospholipid syndrome, uterine anomalies, parental chromosomal abnormalities, particularly translocations, and abnormal embryonic karyotypes. The number of centers performing preimplantation genetic diagnosis (PGD) for patients with translocations has steadily increased worldwide. The live birth rate with PGD was reported to be 27-54%. The live birth rate with natural conception was reported to be 37-63% on the first ...

  20. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype

    OpenAIRE

    Vervoort, V; Viljoen, D; Smart, R.; Suthers, G; Dupont, B.; Abbott, A.; Schwartz, C.

    2002-01-01

    A patient with microcephaly, microphthalmia, ectrodactyly, and prognathism (MMEP) and mental retardation was previously reported to carry a de novo reciprocal t(6;13)(q21;q12) translocation. In an attempt to identify the presumed causative gene, we mapped the translocation breakpoints using fluorescence in situ hybridisation (FISH). Two overlapping genomic clones crossed the breakpoint on the der(6) chromosome, locating the breakpoint region between D6S1594 and D6S1250. Southern blot analysis...

  1. Methods of biological dosimetry employing chromosome-specific staining

    Science.gov (United States)

    Gray, Joe W.; Pinkel, Daniel

    2000-01-01

    Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods are provided to disable the hybridization capacity of shared, high copy repetitive sequences and/or remove such sequences to provide for useful contrast. Still further methods are provided to produce chromosome-specific staining reagents which are made specific to the targeted chromosomal material, which can be one or more whole chromosomes, one or more regions on one or more chromosomes, subsets of chromosomes and/or the entire genome. Probes and test kits are provided for use in tumor cytogenetics, in the detection of disease related loci, in analysis of structural abnormalities, such as translocations, and for biological dosimetry. Further, methods and prenatal test kits are provided to stain targeted chromosomal material of fetal cells, including fetal cells obtained from maternal blood. Still further, the invention provides for automated means to detect and analyse chromosomal abnormalities.

  2. Abnormalities of chromosome No. 1: significance in malignant transformation

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.

    1978-01-01

    Studies of human hematologic malignancies have provided sufficient data not only for the identification of nonrandom abnormalities of whole chromosomes, but also for determination of the specific chromosome regions involved. In clonal aberrations leading to an excess of chromosome No. 1, or a partial excess of No. 1, trisomy for bands 1q25 to 1q32 was noted in the myeloid cells obtained from every one of 35 patients who had various disorders, such as acute leukemia, polycythemia vera, or myelofibrosis. Similar chromosome changes were a consistent finding in various solid tumors as well. This rearrangement was not the result of a particularly fragile site in that region of the chromosome, since the break points in reciprocal translocations that involve No. 1 occurred almost exclusively in the short arm. The nonrandom chromosome changes found in neoplastic cells can now be correlated with the gene loci on these chromosomes or chromosome segments as an attempt is made to identify specific genes that might be related to malignancy.

  3. Haloarchaeal Protein Translocation via the Twin Arginine Translocation Pathway

    Energy Technology Data Exchange (ETDEWEB)

    Pohlschroder Mechthild

    2009-02-03

    Protein transport across hydrophobic membranes that partition cellular compartments is essential in all cells. The twin arginine translocation (Tat) pathway transports proteins across the prokaryotic cytoplasmic membranes. Distinct from the universally conserved Sec pathway, which secretes unfolded proteins, the Tat machinery is unique in that it secretes proteins in a folded conformation, making it an attractive pathway for the transport and secretion of heterologously expressed proteins that are Sec-incompatible. During the past 7 years, the DOE-supported project has focused on the characterization of the diversity of bacterial and archaeal Tat substrates as well as on the characterization of the Tat pathway of a model archaeon, Haloferax volcanii, a member of the haloarchaea. We have demonstrated that H. volcanii uses this pathway to transport most of its secretome.

  4. Chromosomal Analysis of Couples with Repeated Spontaneous Abortions in Northeastern Iran

    Directory of Open Access Journals (Sweden)

    Saeedeh Ghazaey

    2015-04-01

    Full Text Available Background: Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs. The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously. Materials and Methods: In this retrospective study, the pattern of chromosomal aberrations was evaluated during a six-year period from 2005 to 2011. The population under study was 728 couples who attended genetic counseling services for their RSAs at Pardis Clinical and Genetics Laboratory, Mashhad, Iran. Results: In this study, about 11.7% of couples were carriers of chromosomal aberrations. The majority of abnormalities were found in couples with history of abortion, without stillbirth or livebirth. Balanced reciprocal translocations, Robertsonian translocations, inversions and sex chromosome aneuploidy were seen in these cases. Balanced reciprocal translocations were the most frequent chromosomal anomalies (62.7% detected in current study. Conclusion: These findings suggest that chromosomal abnormalities can be one of the important causes of RSAs. In addition, cytogenetic study of families who experienced RSAs may prevent unnecessary treatment if RSA are caused by chromosomal abnormalities. The results of cytogenetic studies of RSA cases will provide a standard protocol for the genetic counselors in order to follow up and to help these families.

  5. Cytogenetic and molecular characterization of eight new reciprocal translocations in the pig species. Estimation of their incidence in French populations

    Directory of Open Access Journals (Sweden)

    Darré Roland

    2002-05-01

    Full Text Available Abstract Eight new cases of reciprocal translocation in the domestic pig are described. All the rearrangements were highlighted using GTG banding techniques. Chromosome painting experiments were also carried out to confirm the proposed hypotheses and to accurately locate the breakpoints. Three translocations, rcp(4;6(q21;p14, rcp(2;6(p17;q27 and rcp(5;17(p12;q13 were found in boars siring small litters (8.3 and 7.4 piglets born alive per litter, on average, for translocations 2/6 and 5/17, respectively. The remaining five, rcp(5;8(p12;q21, rcp(15;17(q24;q21, rcp(7;8(q24;p21, rcp(5;8(p11;p23 and rcp(3;15(q27;q13 were identified in young boars controlled before entering reproduction. A decrease in prolificacy of 22% was estimated for the 3/15 translocation after reproduction of the boar carrier. A parental origin by inheritance of the translocation was established for the (5;8(p11;p23 translocation. The overall incidence of reciprocal translocations in the French pig populations over the 2000/2001 period was estimated (0.34%.

  6. An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

    NARCIS (Netherlands)

    H.J.F.M.M. Eussen (Bert); S. Verhoef; A. Fois; D.J.J. Halley (Dicky); G. Bartalini (Gabriella); L. Bakker (Lida); P. Balestri (Paolo); C. di Lucca; J.O. van Hemel; H. Dauwerse; A.M.W. van den Ouweland (Ans); C. Ris-Stalpers (Carolyn)

    2000-01-01

    textabstractWe report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had alpha th

  7. Assignment of genes encoding metallothioneins I and II to Chinese hamster chromosomes 3. Evidence for the role of chromosome rearrangement in gene amplification

    Energy Technology Data Exchange (ETDEWEB)

    Stallings, R.L.; Munk, A.C.; Longmire, J.L.; Hildebrand, C.E.; Crawford, B.D.

    1984-12-01

    Cadmium resistant (Cd/sup r/) variants with coordinately amplified metallothionein I and II (MTI and MTII) genes have been derived from both Chinese hamster ovary and near-euploid Chinese hamster cell lines. Cytogenetic analyses of Cd/sup r/ variants consistently revealed breakage and rearrangement involving chromosome 3p. In situ hybridization with Chinese hamster MT-encoding cDNA probe localized amplified MT gene sequences near the translocation breakpoint involving chromosome 3p. These observations suggested that both functionally related, isometallothionein loci are linked on Chinese hamster chromosome 3. Southern blot analyses of DNAs isolated from a panel of Chinese hamster x mouse somatic cell hybrids which segregate hamster chromosomes confirmed that both MTI and MTII are located on chromosome 3. The authors speculate that rearrangement of chromosome 3p could be causally involved with the amplification of MT genes in Cd/sup r/ hamster cell lines. 34 references, 3 figures, 1 table.

  8. De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15s.

    Directory of Open Access Journals (Sweden)

    Elena Rossi

    Full Text Available The 15q11-q13 region is characterized by high instability, caused by the presence of several paralogous segmental duplications. Although most mechanisms dealing with cryptic deletions and amplifications have been at least partly characterized, little is known about the rare translocations involving this region. We characterized at the molecular level five unbalanced translocations, including a jumping one, having most of 15q transposed to the end of another chromosome, whereas the der(15(pter->q11-q13 was missing. Imbalances were associated either with Prader-Willi or Angelman syndrome. Array-CGH demonstrated the absence of any copy number changes in the recipient chromosome in three cases, while one carried a cryptic terminal deletion and another a large terminal deletion, already diagnosed by classical cytogenetics. We cloned the breakpoint junctions in two cases, whereas cloning was impaired by complex regional genomic architecture and mosaicism in the others. Our results strongly indicate that some of our translocations originated through a prezygotic/postzygotic two-hit mechanism starting with the formation of an acentric 15qter->q1::q1->qter representing the reciprocal product of the inv dup(15 supernumerary marker chromosome. An embryo with such an acentric chromosome plus a normal chromosome 15 inherited from the other parent could survive only if partial trisomy 15 rescue would occur through elimination of part of the acentric chromosome, stabilization of the remaining portion with telomere capture, and formation of a derivative chromosome. All these events likely do not happen concurrently in a single cell but are rather the result of successive stabilization attempts occurring in different cells of which only the fittest will finally survive. Accordingly, jumping translocations might represent successful rescue attempts in different cells rather than transfer of the same 15q portion to different chromosomes. We also hypothesize that

  9. Chromosome Disorder Outreach

    Science.gov (United States)

    ... BLOG Join Us Donate You are not alone. Chromosome Disorder Outreach, Inc. is a non-profit organization, ... Support For all those diagnosed with any rare chromosome disorder. Since 1992, CDO has supported the parents ...

  10. Formation of a G-quadruplex at the BCL2 major breakpoint region of the t(14;18) translocation in follicular lymphoma

    OpenAIRE

    Nambiar, Mridula; Goldsmith, G.; Moorthy, Balaji T.; Lieber, Michael R.; Joshi, Mamata V.; Choudhary, Bibha; Hosur, Ramakrishna V.; Sathees C Raghavan

    2010-01-01

    The t(14;18) translocation in follicular lymphoma is one of the most common chromosomal translocations. Most breaks on chromosome 18 are located at the 3′-UTR of the BCL2 gene and are mainly clustered in the major breakpoint region (MBR). Recently, we found that the BCL2 MBR has a non-B DNA character in genomic DNA. Here, we show that single-stranded DNA modeled from the template strand of the BCL2 MBR, forms secondary structures that migrate faster on native PAGE in the presence of potassium...

  11. Chromosomal phylogeny and evolution of gibbons (Hylobatidae).

    Science.gov (United States)

    Müller, Stefan; Hollatz, Melanie; Wienberg, Johannes

    2003-11-01

    Although human and gibbons are classified in the same primate superfamily (Hominoidae), their karyotypes differ by extensive chromosome reshuffling. To date, there is still limited understanding of the events that shaped extant gibbon karyotypes. Further, the phylogeny and evolution of the twelve or more extant gibbon species (lesser apes, Hylobatidae) is poorly understood, and conflicting phylogenies have been published. We present a comprehensive analysis of gibbon chromosome rearrangements and a phylogenetic reconstruction of the four recognized subgenera based on molecular cytogenetics data. We have used two different approaches to interpret our data: (1) a cladistic reconstruction based on the identification of ancestral versus derived chromosome forms observed in extant gibbon species; (2) an approach in which adjacent homologous segments that have been changed by translocations and intra-chromosomal rearrangements are treated as discrete characters in a parsimony analysis (PAUP). The orangutan serves as an "outgroup", since it has a karyotype that is supposed to be most similar to the ancestral form of all humans and apes. Both approaches place the subgenus Bunopithecus as the most basal group of the Hylobatidae, followed by Hylobates, with Symphalangus and Nomascus as the last to diverge. Since most chromosome rearrangements observed in gibbons are either ancestral to all four subgenera or specific for individual species and only a few common derived rearrangements at subsequent branching points have been recorded, all extant gibbons may have diverged within relatively short evolutionary time. In general, chromosomal rearrangements produce changes that should be considered as unique landmarks at the divergence nodes. Thus, molecular cytogenetics could be an important tool to elucidate phylogenies in other species in which speciation may have occurred over very short evolutionary time with not enough genetic (DNA sequence) and other biological divergence to

  12. Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss

    OpenAIRE

    Vona, B; Neuner, C.; El Hajj, N.; Schneider, E.; Farcas, R.; Beyer, V; Zechner, U; Keilmann, A; Poot, M.; Bartsch, O.; Nanda, I; Haaf, T

    2013-01-01

    We report on a boy with non-syndromic hearing loss and an apparently balanced translocation t(10;15)(q26.13;q21.1). The same translocation was found in the normally hearing brother, father and paternal grandfather; however, this does not exclude its involvement in disease pathogenesis, for example, by unmasking a second mutation. Breakpoint analysis via FISH with BAC clones and long-range PCR products revealed a disruption of the arginyltransferase 1 (ATE1) gene on translocation chromosome 10...

  13. ZEBRAFISH CHROMOSOME-BANDING

    NARCIS (Netherlands)

    PIJNACKER, LP; FERWERDA, MA

    1995-01-01

    Banding techniques were carried out on metaphase chromosomes of zebrafish (Danio rerio) embryos. The karyotypes with the longest chromosomes consist of 12 metacentrics, 26 submetacentrics, and 12 subtelocentrics (2n = 50). All centromeres are C-band positive. Eight chromosomes have a pericentric C-b

  14. Chromosome painting in plants.

    NARCIS (Netherlands)

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.

    2001-01-01

    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in si

  15. Habitat drives dispersal and survival of translocated juvenile desert tortoises

    Science.gov (United States)

    Nafus, Melia G.; Esque, Todd; Averill-Murray, Roy C.; Nussear, Kenneth E.; Swaisgood, Ronald R.

    2016-01-01

    1.In spite of growing reliance on translocations in wildlife conservation, translocation efficacy remains inconsistent. One factor that can contribute to failed translocations is releasing animals into poor quality or otherwise inadequate habitat.

  16. Recurrent chromosomal rearrangements at bands 8q24 and 11q13 in gastric cancer as detected by multicolor spectral karyotyping

    Institute of Scientific and Technical Information of China (English)

    Yasuhide Yamashita; Akio Hagiwara; Hisakazu Yamagishi; Masafumi Taniwaki; Kazuhiro Nishida; Takashi Okuda; Kenichi Nomura; Yosuke Matsumoto; Shoji Mitsufuji; Shigeo Horiike; Hiroyuki Hata; Chohei Sakakura

    2005-01-01

    AIM: To identify chromosomal translocations specific to gastric cancer (GC), spectral karyotyping (SKY) analysis was performed on established cell lines and cancerous ascitic fluids.METHODS: SKY analysis of 10 established cell lines and seven cancerous ascitic fluid samples identified recurrent chromosomal breakpoints and translocations in GC,several of which involved chromosomal loci of oncogenes or tumor suppressor genes.RESULTS: A total of 630 chromosomal breaks were identified. Chromosome no.8 was the most frequently involved in rearrangements (65 breaks), followed by chromosomes no. 11 (53), no. 1 (49), no. 7 (46), no. 13 (37), no. 3 (36), no. 17 (33), and no. 20 (29). Frequent breakpoints were detected in 8q24.1 (30 breaks), 11q13 (29), 13q14 (16), 20q11.2 (14), 7q32 (13), 17q11.2 (13),18q21 (12), 17q23 (9), 18q11.2 (9). SKY analysis identified a total of 242 chromosomal rearrangements including 190 reciprocal and non-reciprocal translocations. The recurrent combinations of chromosomal bands involved in translocations were 8q24.1 and 13q14 (3 cases), 8q24.1 and 11q13 (3), 11q13 and 17q11.2 (2), and 18q11.2 and 20q11.2 (2). Our study validated the ability of SKY to characterize in detail the chromosomal rearrangements in solid tumors and derived cell lines. Moreover,fluorescence in situ hybridization helped to identify the insertions, translocations, and homogeneously staining regions of MYCand CCND1 gene loci.CONCLUSION: The non-random co-localization of certain cytogenetic bands suggests the importance of chromosomal translocations in gastric carcinogenesis, by serving as landmarks for the cloning of GC causing genes.

  17. A boy with 9p+ resulting from maternal t(4;9) translocation: a case report

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Increasing cases of 9p syndrome have been reported since the first description in 1970.In the present case, a extra segment of the end of chromosome 9p resulting from a maternally inherited translocation t(4;9)(q31;p24) was described in a liveborn boy with mental retardation and multiple congenital anomalies. The extra part of chromosome 9p includes segment of the chromosome region 4q31→qter of his mother but deletes a small segment 9p24→pter. To our knowledge, this is the first case described in a liveborn child. This paper also includes a review and tabulation of clinical features seen in the 34 reported cases. The new case had most characteristics reported cases besides worried-face, fat and abnormal lower digestion tract, which is a modification and double expansion of the previous summarization on 9p syndrome.

  18. 普通小麦-簇毛麦易位系T6BS·6BL-2VS的选育%Identification of Triticum aestivum-Haynaldia villosa Translocation Line T6BS·6BL-2VS

    Institute of Scientific and Technical Information of China (English)

    陈全战; 张边江; 周峰; 吴梅; 李华春

    2008-01-01

    [Objective] The aim of experiment was to provide a new germplasm for wheat breeding by further using desirable genes in 2V chromosome of Haynaldia villosa.[Method] Through hybridization between common wheat(Triticum aestivum)-Haynaldia villosa disomic substitution line and common wheat Nonglin26-3C chromosome of Aegilops triuncialis disomic addition line, the analysis methods such as chromosome C-banding, genomic in situ hybridization and molecular marker technique were comprehensively applied and combined characters investigation.[Result] The wheat-Haynaldia villosa translocation line(T6BS·6BL-2VS) was selected from hybrid progenies to conduct characters investigation,which found some bristles on glume ridge of T6BS·6BL-2VS.[Conclusion] The translocation line induced by gametocidal chromosome was a small segment translocation line and the gene of bristle on glume ridge of Haynaldia villosa was located between the middle and the terminal of 2VS.

  19. Effects of the Triticum aestivum-Haynaldia villosa T4DL·4VS Translocation Chromosome on the Agronomic Important Traits in Different Backgrounds%小麦-簇毛麦T4DL·4VS易位染色体对小麦农艺性状的影响

    Institute of Scientific and Technical Information of China (English)

    王海燕; 赵仁慧; 袁春霞; 张守忠; 肖进; 王秀娥

    2012-01-01

    It has been found that the T4DL·4VS translocation can be used in wheat breeding programs as a donor of resistance to wheat yellow mosaic bymovirus and take-all disease and can be used in wheat breeding for disease resistance.In order to further elucidate the potential application of this translocation line,five F2 population derived from crosses of the T4DL·4VS with 5 wheat varieties from different ecological wheat grown areas were used to assess the effects of the T4DL·4VS translocation on agronomic characters in different genetic backgrounds.It was found for all the used cross combinations,there was no significant difference between T4DL·4VS lines and non-T4DL·4VS lines on the number of effective spikes,the total spikelets per spike and the number of grains per spike.Positive effect of the T4DL·4VS lines on plant height was found in the background of Zheng 9023,Zhou 9823 and Mianyang 26,while negative effects were found on thousand-kernel weight in the background of Zhou 9823,Shi 4185 and Yangmai 15,on spike length in the background of Zheng 9023,Zhou 9823,and Yangmai 15,on the flag leaf area in the background of Yangmai 15.These results showed that significant variation occurred for some traits among different crosses,indicating that parent selection could lead to further improvements.%为了进一步探究小麦-簇毛麦T4DL·4VS易位系的育种利用价值,选用以T4DL·4VS易位系为亲本组配的5个F2群体为试验材料,研究了T4DL·4VS易位染色体在不同遗传背景中对小麦农艺性状的影响。结果表明,在所有组合中,T4DL·4VS易位染色体对有效穗数、每穗小穗数和穗粒数无明显影响;在与郑麦9023、周9823和绵阳26配置的3个组合中,T4DL·4VS易位染色体对株高表现出一定的正向效应;在与周9823、石4185和扬麦15配置的3个组合中,T4DL·4VS易位染色体对千粒重表现出负向效应;在与郑麦9023、周9823和扬麦15配置的3个组合中,T4DL·4VS易位染色体

  20. Obtaining and Genetic Stability of Chinese Cabbage-Cabbage Translocation Lines with Fragment of Cabbage Chromosome 8%添加甘蓝8号染色体片段的大白菜易位系的获得及其遗传稳定性分析

    Institute of Scientific and Technical Information of China (English)

    闫珍臣; 王彦华; 轩淑欣; 赵建军; 申书兴

    2015-01-01

    Chinese Cabbage-Cabbage alien addition line AC8 was radiated to obtain M1 plants.Doubled haploid lines were further obtained by microcspores culture for backcross descendants of M1.Two hundred and eighty-six specific InDel molecular markers linked to cabbage linkage group were used for detecting the DH lines.Combining with cytology observation,the translocation line AT8-1 of Chinese cabbage was identified.AT8-1 was selfed,backcrossed and hydridized,then their offsprings were identified by the specific makers.Results showed that the translocation fragment form cabbage was instability,the ratio of keeping entire exogenous fragment in selfing progenies,one backcross progeny and two hybridization progenies were 61.1%,26.3%,24.2% and 30.0%,respectively.In all progeny individuals,none translocation plant was found with smaller fragments than in AT8-1.%为创建大白菜—结球甘蓝易位系,以大白菜—结球甘蓝8号单体异附加系(ACs)为材料,对其摘去已开放花朵的花枝进行60Co-γ辐射,然后取新开放花朵花粉授与AC8,获得M1植株,再将M1与AC8亲本大白菜‘85-1’进行回交,对其回交后代进行小孢子离体培养获得DH系.利用286个结球甘蓝相对于大白菜特异的InDel分子标记对DH系植株进行鉴定,结合细胞学观察获得添加甘蓝8号染色体片段的大白菜易位系‘AT8-1’.对易位系‘AT8-1’进行自交,与‘85-1’回交,与大白菜高代自交系‘14-28’和‘14-36’杂交,对其后代进行InDel分子标记鉴定,结果表明该易位系中甘蓝染色体片段不稳定,该片段完整保留率在自交后代群体为61.1%,回交后代群体为26.3%,两个杂交后代群体分别为24.2%与30.0%.后代群体中均未见易位片段变小的植株.

  1. Clinicopathologic Study of Chromosomal Aberrations in Ocular Adnexal Lymphomas of Korean Patients

    OpenAIRE

    Choung, Hokyung; Kim, Young A; Kim, Namju; Lee, Min Joung; Khwarg, Sang In

    2015-01-01

    Purpose The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported. We investigated the incidence and clinicopathologic relationship of these chromosomal aberrations in ocular adnexal MALT lymphomas in a Korean population. Methods Thirty ocular adnexal MALT lymphomas were investigated for the t(11;18) API2-MALT1, t(14;18) IgH-MALT1 transl...

  2. Simultaneous localization of MLL, AF4 and ENL genes in interphase nuclei by 3D-FISH: MLL translocation revisited

    Directory of Open Access Journals (Sweden)

    Sun Jian-Sheng

    2006-01-01

    Full Text Available Abstract Background Haematological cancer is characterised by chromosomal translocation (e.g. MLL translocation in acute leukaemia and two models have been proposed to explain the origins of recurrent reciprocal translocation. The first, established from pairs of translocated genes (such as BCR and ABL, considers the spatial proximity of loci in interphase nuclei (static "contact first" model. The second model is based on the dynamics of double strand break ends during repair processes (dynamic "breakage first" model. Since the MLL gene involved in 11q23 translocation has more than 40 partners, the study of the relative positions of the MLL gene with both the most frequent partner gene (AF4 and a less frequent partner gene (ENL, should elucidate the MLL translocation mechanism. Methods Using triple labeling 3D FISH experiments, we have determined the relative positions of MLL, AF4 and ENL genes, in two lymphoblastic and two myeloid human cell lines. Results In all cell lines, the ENL gene is significantly closer to the MLL gene than the AF4 gene (with P value loci would indicate a greater probability of the occurrence of t(11;19(q23;p13.3 compared to t(4;11(q21;q23. However this is in contradiction to the epidemiology of 11q23 translocation. Conclusion The simultaneous multi-probe hybridization in 3D-FISH is a new approach in addressing the correlation between spatial proximity and occurrence of translocation. Our observations are not consistent with the static "contact first" model of translocation. The recently proposed dynamic "breakage first" model offers an attractive alternative explanation.

  3. Chromosome analysis of nuclear power plant workers using fluorescence in situ hybridization and Giemsa assay

    Science.gov (United States)

    Hristova, Rositsa; Hadjidekova, Valeria; Grigorova, Mira; Nikolova, Teodora; Bulanova, Minka; Popova, Ljubomira; Staynova, Albena; Benova, Donka

    2013-01-01

    The aim of this study was to evaluate the genotoxic effects of ionizing radiation in vivo in exposed Bulgarian nuclear power plant workers by using classical cytogenetic and molecular cytogenetic analyses of peripheral lymphocytes. Chromosome analysis using fluorescence in situ hybrydization (FISH) and Giemsa techniques was undertaken on 63 workers and 45 administrative staff controls from the Bulgarian Nuclear Power Plant. Using the Giemsa method, the frequencies of cells studied with chromosome aberrations, dicentrics plus rings and chromosome fragments in the radiation workers were significantly higher compared with the control group (P = 0.044, P = 0.014, and P = 0.033, respectively). A significant association between frequencies of dicentrics plus rings and accumulated doses was registered (P < 0.01). In the present study, a FISH cocktail of whole chromosome paints for chromosomes 1, 4 and 11 was used. A significant association between frequency of translocations and accumulated doses was also observed (P < 0.001). Within the control group, a correlation was found between age and the spontaneous frequency of translocations. No correlation was found between smoking status and frequency of translocations. When compared with the control group, workers with accumulated doses up to 100 mSv showed no increase in genome translocation frequency, whereas workers with accumulated doses from 101 to 200 mSv showed a statistically significant doubling of genome translocation frequency (P = 0.009). Thus, in cases of chronic exposure and for purposes of retrospective dosimetry, the genome frequency of translocations is a more useful marker for evaluation of genotoxic effects than dicentric frequency. PMID:23536543

  4. Chromosomal mechanisms in murine radiation acute myeloid leukemogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Bouffler, S.D.; Breckon, G.; Cox, R. [National Radiological Protection Board, Chilton (United Kingdom)

    1996-04-01

    Chromosome 2 abnormalities, particularly interstitial deletions, characterize murine radiation-induced acute myeloid leukaemias (AMLs). Here, G-band analyses in CBA/H mice of early (1-6 month) post 3 Gy X-radiation events in bone marrow cells in vivo and karyotype evolution in one unusual AML are presented. The early event analysis showed that all irradiated animals carry chromosome 2 abnormalities, that chromosome 2 abnormalities are more frequent than expected and that interstitial deletions are more common in chromosome 2 than in the remainder of the genome. On presentation AML case N122 carried a t(2; 11) terminal translocation which, with passaging, evolved into a del2(C3F3). Therefore two pathways in leukaemogenesis might exist, one deletion-driven, the other terminal tranlocation-driven involving interstitial genes and terminal genes respectively of chromosome 2. As all irradiated individuals carried chromosome 2 abnormalities, the formation of these aberrations does not determine individual leukaemogenic sensitivity as only 20-25% of animals would be expected to develop AML. Similar lines of argument suggest that chromosome 2 abnormalities are necessary but not sufficient for radiation leukaemogenesis in CBA/H nor are they rate limiting in leukaemogenesis. (Author).

  5. TA3 - Dosimetry and instrumentation supply of the M-Fish technique to the Fish-3 painting technique for analysing translocations: A radiotherapy-treated patient study

    Energy Technology Data Exchange (ETDEWEB)

    Pouzoulet, F.; Roch-Lefevre, S.; Giraudet, A.L.; Vaurijoux, A.; Voisin, P.A.; Buard, V.; Delbos, M.; Voisin, Ph.; Roy, L. [Institut de Radioprotection et de Surete Nucleaire, Lab. de Dosimetrie Biologique, 92 - Fontenay aux Roses (France); Bourhis, J. [Laboratoire UPRES EA 27-10, Radiosensibilite des Tumeurs et Tissus sains, PR1, 94 - Villejuif (France)

    2006-07-01

    Purpose: Currently, the chromosome translocation study is the best method to estimate the dose of an old radiation exposure. Fluorescent In Situ Hybridization (F.I.S.H.) technique allows an easy detection of this kind of aberrations. However, as only a few number of chromosomes is usually painted, some bias could skew the result. To evaluate the advantage of using full genome staining (M-F.I.S.H. technique) compared with three chromosomes labelling (F.I.S.H.-3 painting), we compared translocation yields in radiotherapy treated patients. Methods: Chromosome aberration analyses were performed on peripheral blood lymphocyte cultures of two patients treated for a throat cancer by radiotherapy. Blood samples were obtained, before, along the treatment and six or four months later. For each sample, a dicentrics analysis was performed together with translocation analysis either with F.I.S.H.-3 painting or M-F.I.S.H.. Results: By confronting results from the F.I.S.H.-3 painting technique and the M-F.I.S.H. technique, significant differences were revealed. The translocations yield seemed to be stable with the F.I.S.H.-3 painting technique whereas it is not the case with the M-F.I.S.H. technique. This difference in results was explained by the bias induced by F.I.S.H.-3 Painting technique in the visualisation of complex aberrations. Furthermore, we found the presence of a clone bearing a translocation involving a painted chromosome. Conclusions: According to the potential bias of F.I.S.H.-3 painting on translocations study, the M-F.I.S.H. technique should provide more precise and reproducible results. Because of its more difficult implement, it seems hardly applicable to retrospective dosimetry instead of F.I.S.H.-3 painting technique. (authors)

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

    Science.gov (United States)

    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. PMID:17899409

  7. Chimpanzee chromosome 12 is homologous to human chromosome 2q

    Energy Technology Data Exchange (ETDEWEB)

    Sun, N. C.; Sun, C. R.Y.; Ho, T.

    1977-01-01

    Most of the 46 human chromosomes find their counterparts in the 48 chimpanzee chromosomes except for chromosome 2 which has been hypothesized to have been derived from a centric fusion of two chimpanzee acrocentric chromosomes. These two chromosomes correspond to the human chromosomes 2p and 2g. This conclusion is based primarily on chromosome banding techniques, and the somatic cell hybridization technique has also been used. (HLW)

  8. Structural Changes of 2V Chromosome of Haynaldia villosa Induced by Gametocidal Chromosome 3C of Aegilops triuncialis

    Institute of Scientific and Technical Information of China (English)

    CHEN Quan-zhan; CAO Ai-zhong; QI Zeng-jun; ZHANG Wei; CHEN Pei-du

    2008-01-01

    Haynaldia villosa (2n =2X = 14, VV), a relative of wheat, plays important roles in wheat improvement mainly owing to its disease resistance. Powdery mildew resistance gene Pm21 has been successfully transferred into wheat by Cytogenetie Institute, Nanjing Agricultural University, China, and is widely used in the current wheat breeding programs. In this research, our objective is to further transfer and utilize the beneficial genes such as eye-spot resistance, yellow rust resistance, and gene of the tufted bristles on the glume ridge (a remarkable morphology) mapped on 2V of Haynaldia villosa. A disomic addition line with gametocidal chromosome 3C ofAegilops triuncialis added in Norin-26 was crossed to the wheat-H, villosa disomic substitution 2V(2D) and the hybrid F1 was then self-crossed. Chromosome C-banding, genomie in situ hybridization (GISH), and meiotic analysis in combination with molecular markers were applied to detect the chromosome variations derived from hybrids F2 and F3. To date, four translocations including one small segmental translocation T6BS.6BL-2VS, two whole arm translocations (preliminarily designed as T3DS·2VL and T2VS·7DL) and one intercalary translocation T2VS·2VL-W-2VL, one deletion Del. 2VS·2VL-, one monotelosomic Mt2VS, and one iso- chromosome 2VS·2VS line have been developed and characterized. One wheat SSR marker Xwmc25-120 tagging 2VS and one wheat STS marker NAU/STSBCD135-1 (2BL) tagging 2VL were successfully used to confirm the alien chromosome segments involved in the seven lines. The tufted bristles on the glume ridge appeared in lines T2VS·7DL, Mt2VS, 2VS·2VS as well as the parent DS2V(2D), whereas in T3DS·2VL, this trait did not appear. The gene controlling the tufted bristles was located on 2VS. Gametocidal chromosome 3C of Aegilops triuncialis could successfully induce chromosome 2V structural changes.

  9. Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpoint

    NARCIS (Netherlands)

    de Leeuw, B; Berger, W; Sinke, R J; Suijkerbuijk, R F; Gilgenkrantz, S; Geraghty, M T; Valle, D; Monaco, A P; Lehrach, H; Ropers, H H

    1993-01-01

    A somatic cell hybrid containing the synovial sarcoma-associated t(X;18)(p11.2;q11.2) derivative (der(X)) chromosome was used to characterize the translocation breakpoint region on the X chromosome. By using Southern hybridization of DNA from this der(X) hybrid in conjunction with Xp-region specific

  10. Changes in Nuclear Orientation Patterns of Chromosome 11 during Mouse Plasmacytoma Development

    Directory of Open Access Journals (Sweden)

    Ann-Kristin Schmälter

    2015-10-01

    Full Text Available Studying changes in nuclear architecture is a unique approach toward the understanding of nuclear remodeling during tumor development. One aspect of nuclear architecture is the orientation of chromosomes in the three-dimensional nuclear space. We studied mouse chromosome 11 in lymphocytes of [T38HxBALB/c]N mice with a reciprocal translocation between chromosome X and 11 (T38HT(X;11 exhibiting a long chromosome T(11;X and a short chromosome T(X;11 and in fast-onset plasmacytomas (PCTs induced in the same strain. We determined the three-dimensional orientation of chromosome 11 using a mouse chromosome 11 specific multicolor banding probe. We also examined the nuclear position of the small translocation chromosome T(X;11 which contains cytoband 11E2 and parts of E1. Chromosomes can point either with their centromeric or with their telomeric end toward the nuclear center or periphery, or their position is found in parallel to the nuclear border. In T38HT(X;11 nuclei, the most frequently observed orientation pattern was with both chromosomes 11 in parallel to the nuclear border (“PP”. PCT cells showed nuclei with two or more copies of chromosome 11. In PCTs, the most frequent orientation pattern was with one chromosome in parallel and the other pointing with its centromeric end toward the nuclear periphery (“CP”. There is a significant difference between the orientation patterns observed in T38HT(X;11 and in PCT nuclei (P < .0001.

  11. FtsK-dependent dimer resolution on multiple chromosomes in the pathogen Vibrio cholerae.

    Directory of Open Access Journals (Sweden)

    Marie-Eve Val

    Full Text Available Unlike most bacteria, Vibrio cholerae harbors two distinct, nonhomologous circular chromosomes (chromosome I and II. Many features of chromosome II are plasmid-like, which raised questions concerning its chromosomal nature. Plasmid replication and segregation are generally not coordinated with the bacterial cell cycle, further calling into question the mechanisms ensuring the synchronous management of chromosome I and II. Maintenance of circular replicons requires the resolution of dimers created by homologous recombination events. In Escherichia coli, chromosome dimers are resolved by the addition of a crossover at a specific site, dif, by two tyrosine recombinases, XerC and XerD. The process is coordinated with cell division through the activity of a DNA translocase, FtsK. Many E. coli plasmids also use XerCD for dimer resolution. However, the process is FtsK-independent. The two chromosomes of the V. cholerae N16961 strain carry divergent dimer resolution sites, dif1 and dif2. Here, we show that V. cholerae FtsK controls the addition of a crossover at dif1 and dif2 by a common pair of Xer recombinases. In addition, we show that specific DNA motifs dictate its orientation of translocation, the distribution of these motifs on chromosome I and chromosome II supporting the idea that FtsK translocation serves to bring together the resolution sites carried by a dimer at the time of cell division. Taken together, these results suggest that the same FtsK-dependent mechanism coordinates dimer resolution with cell division for each of the two V. cholerae chromosomes. Chromosome II dimer resolution thus stands as a bona fide chromosomal process.

  12. DNA Repair Defects and Chromosomal Aberrations

    Science.gov (United States)

    Hada, Megumi; George, K. A.; Huff, J. L.; Pluth, J. M.; Cucinotta, F. A.

    2009-01-01

    Yields of chromosome aberrations were assessed in cells deficient in DNA doublestrand break (DSB) repair, after exposure to acute or to low-dose-rate (0.018 Gy/hr) gamma rays or acute high LET iron nuclei. We studied several cell lines including fibroblasts deficient in ATM (ataxia telangiectasia mutated; product of the gene that is mutated in ataxia telangiectasia patients) or NBS (nibrin; product of the gene mutated in the Nijmegen breakage syndrome), and gliomablastoma cells that are proficient or lacking in DNA-dependent protein kinase (DNA-PK) activity. Chromosomes were analyzed using the fluorescence in situ hybridization (FISH) chromosome painting method in cells at the first division post irradiation, and chromosome aberrations were identified as either simple exchanges (translocations and dicentrics) or complex exchanges (involving >2 breaks in 2 or more chromosomes). Gamma irradiation induced greater yields of both simple and complex exchanges in the DSB repair-defective cells than in the normal cells. The quadratic dose-response terms for both simple and complex chromosome exchanges were significantly higher for the ATM- and NBS-deficient lines than for normal fibroblasts. However, in the NBS cells the linear dose-response term was significantly higher only for simple exchanges. The large increases in the quadratic dose-response terms in these repair-defective cell lines points the importance of the functions of ATM and NBS in chromatin modifications to facilitate correct DSB repair and minimize the formation of aberrations. The differences found between ATM- and NBS-deficient cells at low doses suggest that important questions should with regard to applying observations of radiation sensitivity at high dose to low-dose exposures. For aberrations induced by iron nuclei, regression models preferred purely linear dose responses for simple exchanges and quadratic dose responses for complex exchanges. Relative biological effectiveness (RBE) factors of all of

  13. QTL dissection of Lag phase in wine fermentation reveals a new translocation responsible for Saccharomyces cerevisiae adaptation to sulfite.

    Directory of Open Access Journals (Sweden)

    Adrien Zimmer

    Full Text Available Quantitative genetics and QTL mapping are efficient strategies for deciphering the genetic polymorphisms that explain the phenotypic differences of individuals within the same species. Since a decade, this approach has been applied to eukaryotic microbes such as Saccharomyces cerevisiae in order to find natural genetic variations conferring adaptation of individuals to their environment. In this work, a QTL responsible for lag phase duration in the alcoholic fermentation of grape juice was dissected by reciprocal hemizygosity analysis. After invalidating the effect of some candidate genes, a chromosomal translocation affecting the lag phase was brought to light using de novo assembly of parental genomes. This newly described translocation (XV-t-XVI involves the promoter region of ADH1 and the gene SSU1 and confers an increased expression of the sulfite pump during the first hours of alcoholic fermentation. This translocation constitutes another adaptation route of wine yeast to sulfites in addition to the translocation VIII-t-XVI previously described. A population survey of both translocation forms in a panel of domesticated yeast strains suggests that the translocation XV-t-XVI has been empirically selected by human activity.

  14. Verification by the FISH translocation assay of historic doses to Mayak workers from external gamma radiation.

    Science.gov (United States)

    Sotnik, Natalia V; Azizova, Tamara V; Darroudi, Firouz; Ainsbury, Elizabeth A; Moquet, Jayne E; Fomina, Janna; Lloyd, David C; Hone, Pat A; Edwards, Alan A

    2015-11-01

    The aim of this study was to apply the fluorescence in situ hybridization (FISH) translocation assay in combination with chromosome painting of peripheral blood lymphocytes for retrospective biological dosimetry of Mayak nuclear power plant workers exposed chronically to external gamma radiation. These data were compared with physical dose estimates based on monitoring with badge dosimeters throughout each person's working life. Chromosome translocation yields for 94 workers of the Mayak production association were measured in three laboratories: Southern Urals Biophysics Institute, Leiden University Medical Center and the former Health Protection Agency of the UK (hereinafter Public Health England). The results of the study demonstrated that the FISH-based translocation assay in workers with prolonged (chronic) occupational gamma-ray exposure was a reliable biological dosimeter even many years after radiation exposure. Cytogenetic estimates of red bone marrow doses from external gamma rays were reasonably consistent with dose measurements based on film badge readings successfully validated in dosimetry system "Doses-2005" by FISH, within the bounds of the associated uncertainties. PMID:26319788

  15. Dudleya Variegata Translocation - San Diego [ds654

    Data.gov (United States)

    California Department of Resources — At Mission Trails Regional Park, a translocation project of Dudleya variegata was conducted in efforts to save the population from a private property undergoing...

  16. Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart.

    Science.gov (United States)

    Bacino, C A; Lee, B; Spikes, A S; Shaffer, L G

    1999-01-15

    We report a case of a newborn female with minor dysmorphic features and hypoplastic left heart. Chromosome studies showed that she was the carrier of an unbalanced translocation between the X-chromosome and chromosome 16, resulting in monosomy for Xp and trisomy for 16q. Only a handful of partial trisomy 16q cases have been reported in the literature among liveborns. The great majority of these cases have had significant anomalies in contrast to what has been seen in our patient. The absence of dysmorphic features and other significant abnormalities in this case (with the exception to the hypoplastic left heart), suggested that the inactivation of the derivative X chromosome might have played a role in the mild phenotype of this patient. Conventional cytogenetic studies were conducted in this patient in conjunction with fluorescent in situ hybridization studies, which were used to characterize the X inactivation pattern. The studies revealed that the X chromosome material in the derivative chromosome was inactive while the chromosome 16 derived material in the derivative chromosome was early replicating and active in all cells studied.

  17. The Precarious Prokaryotic Chromosome

    OpenAIRE

    Kuzminov, Andrei

    2014-01-01

    Evolutionary selection for optimal genome preservation, replication, and expression should yield similar chromosome organizations in any type of cells. And yet, the chromosome organization is surprisingly different between eukaryotes and prokaryotes. The nuclear versus cytoplasmic accommodation of genetic material accounts for the distinct eukaryotic and prokaryotic modes of genome evolution, but it falls short of explaining the differences in the chromosome organization. I propose that the t...

  18. De Novo Balanced Translocation t (7;16 (p22.1; p11.2 Associated with Autistic Disorder

    Directory of Open Access Journals (Sweden)

    Nadia Bayou

    2008-01-01

    Full Text Available The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16(p22.1;p16.2 translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH were used to examine the patient's karyotype as well as his parents'. FISH with specific RP11-BAC clones mapping near 7p22.1 and 16p11.2 was used to refine the location of the breakpoints. This is, in the best of our knowledge, the first report of an individual with autism and this specific chromosomal aberration.

  19. Ring chromosome 13

    DEFF Research Database (Denmark)

    Brandt, C A; Hertz, Jens Michael; Petersen, M B;

    1992-01-01

    A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation...... with the probe L1.26 confirmed the derivation from chromosome 13 and DNA polymorphism analysis showed maternal origin of the ring chromosome. Our results, together with a review of previous reports of cases with ring chromosome 13 with identified breakpoints, could neither support the theory of distinct clinical...

  20. Did sex chromosome turnover promote divergence of the major mammal groups?: De novo sex chromosomes and drastic rearrangements may have posed reproductive barriers between monotremes, marsupials and placental mammals.

    Science.gov (United States)

    Graves, Jennifer A M

    2016-08-01

    Comparative mapping and sequencing show that turnover of sex determining genes and chromosomes, and sex chromosome rearrangements, accompany speciation in many vertebrates. Here I review the evidence and propose that the evolution of therian mammals was precipitated by evolution of the male-determining SRY gene, defining a novel XY sex chromosome pair, and interposing a reproductive barrier with the ancestral population of synapsid reptiles 190 million years ago (MYA). Divergence was reinforced by multiple translocations in monotreme sex chromosomes, the first of which supplied a novel sex determining gene. A sex chromosome-autosome fusion may have separated eutherians (placental mammals) from marsupials 160 MYA. Another burst of sex chromosome change and speciation is occurring in rodents, precipitated by the degradation of the Y. And although primates have a more stable Y chromosome, it may be just a matter of time before the same fate overtakes our own lineage. Also watch the video abstract.

  1. Did sex chromosome turnover promote divergence of the major mammal groups?: De novo sex chromosomes and drastic rearrangements may have posed reproductive barriers between monotremes, marsupials and placental mammals.

    Science.gov (United States)

    Graves, Jennifer A M

    2016-08-01

    Comparative mapping and sequencing show that turnover of sex determining genes and chromosomes, and sex chromosome rearrangements, accompany speciation in many vertebrates. Here I review the evidence and propose that the evolution of therian mammals was precipitated by evolution of the male-determining SRY gene, defining a novel XY sex chromosome pair, and interposing a reproductive barrier with the ancestral population of synapsid reptiles 190 million years ago (MYA). Divergence was reinforced by multiple translocations in monotreme sex chromosomes, the first of which supplied a novel sex determining gene. A sex chromosome-autosome fusion may have separated eutherians (placental mammals) from marsupials 160 MYA. Another burst of sex chromosome change and speciation is occurring in rodents, precipitated by the degradation of the Y. And although primates have a more stable Y chromosome, it may be just a matter of time before the same fate overtakes our own lineage. Also watch the video abstract. PMID:27334831

  2. A complete physical map of a wild beet (Beta procumbens) translocation in sugar beet.

    Science.gov (United States)

    Schulte, Daniela; Cai, Daguang; Kleine, Michael; Fan, Longjiang; Wang, Sheng; Jung, Christian

    2006-05-01

    Two sugar beet lines carry homologous translocations of the wild beet Beta procumbens. Long-range restriction mapping with rare cutting enzymes revealed that both translocations are different in size, however, an overlapping region of about 350 kb could be identified. Both lines are resistant to the beet cyst nematode but only TR520 carries the previously cloned resistance gene Hs1pro-1. Hence, a second gene for nematode resistance (Hs1-1) must be located within this region. A bacterial artificial chromosome (BAC) library was constructed from line TR520. The library was screened with a number of B. procumbens specific probes and 61 BAC clones were identified. Five BAC clones formed a minimal tiling path of 580 kb to cover the overlapping region between both translocations including the translocation breakpoint. The five BACs from the overlapping region and one additional BAC distal from that contig were sequenced. The total sequence length from the five BACs of the overlapping region amounted to 524 kb which is 74.35% of the total insert size of these BACs. The frequency of retrotransposon sequences ranged between 14.7 and 43.3%. A total of 133 ORFs were identified, none of these showed similarity to known disease resistance genes. Of these, 12 ORFs showed homology to genes involved in biotic stress resistance reactions or to transcription factors. This paper demonstrates how genome specific probes can be employed for cloning an alien gene introgression into a cultivated species.

  3. Activation of proto-oncogenes by disruption of chromosome neighborhoods.

    Science.gov (United States)

    Hnisz, Denes; Weintraub, Abraham S; Day, Daniel S; Valton, Anne-Laure; Bak, Rasmus O; Li, Charles H; Goldmann, Johanna; Lajoie, Bryan R; Fan, Zi Peng; Sigova, Alla A; Reddy, Jessica; Borges-Rivera, Diego; Lee, Tong Ihn; Jaenisch, Rudolf; Porteus, Matthew H; Dekker, Job; Young, Richard A

    2016-03-25

    Oncogenes are activated through well-known chromosomal alterations such as gene fusion, translocation, and focal amplification. In light of recent evidence that the control of key genes depends on chromosome structures called insulated neighborhoods, we investigated whether proto-oncogenes occur within these structures and whether oncogene activation can occur via disruption of insulated neighborhood boundaries in cancer cells. We mapped insulated neighborhoods in T cell acute lymphoblastic leukemia (T-ALL) and found that tumor cell genomes contain recurrent microdeletions that eliminate the boundary sites of insulated neighborhoods containing prominent T-ALL proto-oncogenes. Perturbation of such boundaries in nonmalignant cells was sufficient to activate proto-oncogenes. Mutations affecting chromosome neighborhood boundaries were found in many types of cancer. Thus, oncogene activation can occur via genetic alterations that disrupt insulated neighborhoods in malignant cells.

  4. LYMPHOMAS WITH TESTICULAR LOCALIZATION SHOW A CONSISTENT BCL-2 EXPRESSION WITHOUT A TRANSLOCATION(14-18) - A MOLECULAR AND IMMUNOHISTOCHEMICAL STUDY

    NARCIS (Netherlands)

    LAMBRECHTS, AC; LOOIJENGA, LHJ; VANTVEER, MB; VANECHTEN, J; TIMENS, W; OOSTERHUIS, JW

    1995-01-01

    The presence of the BCL-2 protein was studied in nine non-Hodgkin's lymphomas with testicular localisation. A consistent presence of the BCL-2 protein was found. The chromosomal translocation (14;18) was seen neither by cytogenetic analysis (n = 4) nor by polymerase chain reaction amplification and

  5. Detection of three common translocation breakpoints in non-Hodgkin's lymphomas by fluorescence in situ hybridization on routine paraffin-embedded tissue sections

    NARCIS (Netherlands)

    Haralambieva, E; Kleiverda, K; Mason, DY; Schuuring, E; Kluin, PM

    2002-01-01

    Non-random chromosomal translocations are specifically involved in the pathogenesis of many non-Hodgkin's lymphomas and have clinical implications as diagnostic and/or prognostic markers. Their detection is often impaired by technical problems, including the distribution of the breakpoints over larg

  6. Physical mapping and cloning of a translocation in sugar beet (Beta vulgaris L) carrying a gene for nematode (Heterodera schachtii) resistance from B. procumbens.

    Science.gov (United States)

    Kleine, M; Cai, D; Elbl, C; Herrmann, R G; Jung, C

    1995-03-01

    Two diploid (2n=18) sugar beet (Beta vulgaris L.) lines which carry monogenic traits for nematode (Heterodera schachtii Schm.) resistance located on translocations from the wild beet species Beta procumbens were investigated. Short interspersed repetitive DNA elements exclusively hybridizing with wild beet DNA were found to be dispersed around the translocations. The banding pattern as revealed by genomic Southern hybridization was highly conserved among translocation lines of different origins indicating that the translocations are not affected by recombination events with sugar beet chromosomes. Physical mapping revealed that the entire translocation is represented by a single Sal I fragment 300 kb in size. A representative YAC (yeast artifical chromosome) library consisting of approximately 13,000 recombinant clones (2.2 genome equivalents) with insert sizes ranging between 50 and 450 kb and an average of 130kb has been constructed from the resistant line A906001. Three recombinant YACs were isolated from this library using the wild beet-specific repetitive elements as probes for screening. Colinearity between YAC inserts and donor DNA was confirmed by DNA fingerprinting utilizing these repetitive probes. The YACs were arranged into two contigs with a total size of 215 kb; these represent a minimum of 72% of the translocation.

  7. Translocation analysis by the FISH-painting method for retrospective dose reconstruction in individuals exposed to ionizing radiation 10 years after exposure

    International Nuclear Information System (INIS)

    Fluorescence in situ hybridization (FISH) is a powerful method largely used for detecting chromosomal rearrangements, translocations in particular, which are important biomarkers for dose assessment in case of human exposure to ionizing radiation. To test the possibility of using the translocation analysis by FISH-painting method in retrospective dose assessment, we carried out in vitro experiments in irradiated human lymphocytes, in parallel with the analysis of translocations in lymphocytes from 10 individuals, who were exposed to 137cesium in the Goiania (Brazil) accident (samples collected 10 years after exposure). The in vitro dose-response curve for the genomic translocation frequencies (FGs) fits a linear quadratic model, according to the equation: Y=0.0243X2+0.0556X. The FG values were also calculated for the individuals exposed to 137cesium, ranging from 0.58 to 5.91 per 100 cells, and the doses were estimated and compared with the results obtained by dicentric analysis soon after the accident, taking the opportunity to test the validity of translocation analysis in retrospective biodosimetry. A tentative of retrospective dosimetry was performed, indicating that the method is feasible only for low level exposure (below 0.5 Gy), while for higher doses there is a need to apply appropriate correction factors, which take into consideration mainly the persistence of chromosomal translocations along with time, and the influence of endogenous and exogenous factors determining the inter-individual variability in the cellular responses to radiation

  8. Occurrence of differential meiotic associations and additional chromosomes in the embryo-sac mother cells of Allium roylei Stearn

    Indian Academy of Sciences (India)

    Geeta Sharma; Ravinder N. Gohil

    2011-04-01

    A small population of complex translocation heterozygote plants of Allium roylei from the Bani region of Jammu Province was studied for meiosis in the female track. This study resulted in identification of two variants, having embryo-sac mother cells (EMCs) with more than 16 chromosomes. EMCs of the remaining plants invariably had diploid $(2n = 16)$ chromosome complement. Female meiosis, in general, was found to be abnormal, with nearly 23% and 11% chromosomes associating as quadrivalents or trivalents at prophase I and at metaphase I, respectively. This was followed by irregular segregation of chromosomes at anaphase I. Amongst the variants; one had 38% EMCs with eight bivalents plus two small sized chromosomes. Their small size, dispensable nature and tendency to affect the pairing behaviour of normal complement are some of the features that latter chromosomes share with the B chromosomes. Seventeen to nineteen chromosomes were observed in 35% EMCs of other variant; the remaining cells had 16 chromosomes. Chromosomal behaviour in both kind of cells (euploid and aneuploid) was more or less similar. Unlike female meiocytes, male meiocytes analysed earlier of this strain always had 16 chromosomes which paired to form extremely complex associations involving 3–16 chromosomes. The most likely cause of this asynchrony with regards to number of chromosomes involved in multivalent formation seems to be interaction of genes controlling chiasma formation with the different physiological conditions of male and female meiocytes.

  9. Development and Identification of Wheat Haynaldia villosa 6DL/6VS Translocation Lines with Powdery Mildew Resistance

    Institute of Scientific and Technical Information of China (English)

    Li Hui; Chen Xiao; Xin Zhiyong; Ma Youzhi; Xu Huijun

    2000-01-01

    Wheat-H. villosa 6DL/6VS translocation lines, Pm97033, Pm97034 and Pm97035 developed by(TH3/4 ×Wan7107)F1 young embryo and anther culture, were evaluated by powdery mildew resistance test, cytogenetic analysis, biochemical analysis, and in situ hybridization respectively. Pm97033 and its hybrids crossing with susceptible cultivar Wan7107, 6D/6V substitution line and double ditelocentric lines (DDT) of Chinese Spring(C S)6A, 6B and 6D were all immune to powdery mildew through the growing period. It was with the somatic chromosome number of 42 and twenty-one bivalents at M I in pollen mother cells (PMCs M I ). The configurations at pMCs M I in hybrids F1 of Pm97033 with either susceptible cultivar or 6D/6V substitution line were 21 biva lents. In hybrids F1 between Pm97033 and C S 6A, 6B DDT, twenty bivalents and one allo-trivalent (t I t)composing of one univalent and two telocentric chromosomes were observed at PMCs M I . The configuration between Pm97033 and C S 6D DDT was twenty bivalents, one allo-bivalent (I t)and one telocentric chromosome. The results of cytogenetic analysis showed that Pm97033 was a translocation line , and the translocation was related to chromosome 6D. The results of in situ hybridization between probe labeled with biotin of H. villosa total DNA and the chromosomes showed that the three lines were all Robertsonian translocation lines. Glutamate oxaloacetate transaminase (GOT)isozyrme analyses showed that the translocation lines expressed the same pattern with C S,and without the specific band of 6VL of H. villas compared with substitution line and addition line. In α-zone of gliadin-2 pattern, all lines resistant to powdery mildew expressed an identical specific band encoded by the gene located on 6VS of H. villosa. All the cytogenetic and biochemical analysis confirmed that Pm97033, etc. were 6DL/6VS translocation lines with the substitution of 6VS for 6DS.

  10. Chromosomal abnormalities and environmental exposures in acute nonlymphocytic leukemia

    International Nuclear Information System (INIS)

    Chromosomal abnormalities are present in bone marrow of approximately 50% of newly diagnostic acute nonlymphatic leukemia (ANLL) patients, but their etiologic significance, if any, is unclear. The frequency of environmental exposures, gathered by questionnaire from patients or relatives, was compared in 127 newly diagnosed ANLL patients with marrow abnormalities (AA) and 109 ANLL patients with cytogenetically normal marrow. These represented 73% of de novo patients treated at M. D. Anderson Hospital between 1976 and 1983. AA patients were more likely than NN patients to: report cytotoxic treatment for prior medical conditions, smoke cigarettes, drink alcoholic beverages, and work at occupations with possible exposure to mutagens. No statistically significant associations between aneuploidy and use of other tobacco, avocational exposure to chemicals or exposure to animals were present. Associations between specific abnormalities and prior cytotoxic therapy (deletion of chromosome 7), smoking (extra chromosome 8, inversion chromosome 16), and occupation at the time of diagnosis (translocation between chromosomes 8 and 21) were noted. No association between occupational exposure to benzene or ionizing radiation and the 6 most common chromosomal abnormalities in ANLL patients were noted, although these agents are known to be leukemogenic. Problems with interpreting the above associations, including the high nonresponse rate, a high proportion of surrogate respondents, and the large number of significance tests that were performed, are discussed. These results are consistent with those from previously reported series, and suggest that tumor-specific markers may be present for some exposures in this disease

  11. Molecular mapping of chromosomes 17 and X. Progress report

    Energy Technology Data Exchange (ETDEWEB)

    Barker, D.F.

    1989-12-31

    The basic aims of this project are the construction of high density genetic maps of chromosomes 17 and X and the utilization of these maps for the subsequent isolation of a set of physically overlapping DNA segment clones. The strategy depends on the utilization of chromosome specific libraries of small (1--15 kb) segments from each of the two chromosomes. Since the time of submission of our previous progress report, we have refined the genetic map of markers which we had previously isolated for chromosome 17. We have completed our genetic mapping in CEPH reference and NF1 families of 15 markers in the pericentric region of chromosome 17. Physical mapping results with three probes, were shown be in very close genetic proximity to the NF1 gene, with respect to two translocation breakpoints which disrupt the activity of the gene. All three of the probes were found to lie between the centromere and the most proximal translocation breakpoint, providing important genetic markers proximal to the NF1 gene. Our primary focus has shifted to the X chromosome. We have isolated an additional 30 polymorphic markers, bringing the total number we have isolated to over 80. We have invested substantial effort in characterizing the polymorphisms at each of these loci and constructed plasmid subclones which reveal the polymorphisms for nearly all of the loci. These subclones are of practical value in that they produce simpler and stronger patterns on human genomic Southern blots, thus improving the efficiency of the genetic mapping experiments. These subclones may also be of value for deriving DNA sequence information at each locus, necessary for establishing polymerase chain reaction primers specific for each locus. Such information would allow the use of each locus as a sequence tagged site.

  12. A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

    Directory of Open Access Journals (Sweden)

    Faezeh Azizi

    2013-01-01

    Full Text Available Premature ovarian failure (POF causes hypergonadotrophic amenorrhea in 1-3%of females, occurring before the age of 40 among women with chromosomal rearrangementsin the long arm of the X chromosome 'critical region'. In this article,we report a case of POF and primary amenorrheain a girl with a de novo reciprocaltranslocation between chromosomes X and 9. The proband was a 17 years oldgirl with a history of irregular menstruation and high level of follicle-stimulatinghormone (FSH (151 mlU/mL and luteinizing hormone (LH (56 mlU/mL. In ultrasoundexamination, left ovarian gonad was atrophic without any follicles. Rightovarian gonad was not seen. Cytogenetical analysis was performed on the patientand her parents. Her karyotype results was 46, X, rcp (X; 9 (q24; q13 dn. Herparents had normal karyotype. This reciprocal translocation between chromosomeX and 9 and observed POF in the patient suggest either the disruption of a criticalgene expression due to 'position effect' or deletion of one or more POF-related genesin the disrupted long arm of the affected X chromosome.

  13. Interstitial telomeric sites and Robertsonian translocations in species of Ipheion and Nothoscordum (Amaryllidaceae).

    Science.gov (United States)

    Souza, Gustavo; Vanzela, Andre L L; Crosa, Orfeo; Guerra, Marcelo

    2016-04-01

    The genera Nothoscordum and Ipheion (Allioideae, Amaryllidaceae) are cytologically characterized by a dysploid series with variable numbers of metacentric and acrocentric chromosomes typical of karyotypes rearranged by Robertsonian translocations (RT). Since they have large chromosomes, low diploid numbers, and possess two telomeric motifs [the vertebrate-type (TTAGGG) n and the Arabidopsis-type (TTTAGGG) n ] they are suitable for investigating the occurrence and possible role of interstitial telomeric sites (ITS) associated with RT. We analyzed the distributions of telomeric sites in 12 species of Nothoscordum and Ipheion and found that both telomeric probes colocalized in all chromosome termini. Cloning and sequencing PCR products obtained using both telomeric primers simultaneously revealed long stretches of (TTAGGG) n and (TTTAGGG) n sequences together with degenerated telomeric sequences. Most acrocentric chromosomes have a 45S rDNA site at the terminal region of the short arms adjacent to the most distal telomeric sites. Telomeric signals were found at all chromosome ends, but ITS were also detected in a few proximal and subterminal regions in some Nothoscordum species. Although RT are common in this group of plants, our findings suggest that proximal positioning of telomeric motifs are not necessarily related to that kind of rearrangement. Rather, transposition of telomeric sequences followed by amplification, could better explain the presence of (TTAGGG) n and (TTTAGGG) n repeats at those sites. Furthermore, a few small interstitial sites found in some Nothoscordum species indicate that dispersion of these sequences was not restricted to the proximal region.

  14. Xp11 Translocation Renal Cell Carcinoma: Unusual Variant Masquerading as Upper Tract Urothelial Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Arash Akhavein

    2014-05-01

    Full Text Available Xp11 translocation renal cell carcinoma (TRCC is a rare subtype of renal cell carcinoma characterized by chromosomal translocations involving the TFE3 gene located at the Xp11.2 locus. Initial cases were more common in children, but cases in older adults have begun to accrue and suggest a relatively more aggressive course. We report a case of Xp11 TRCC in a 63-year-old female patient with initial presentation mimicking upper urinary tract urothelial cell carcinoma, with biopsy proving TRCC. She underwent a radical nephrectomy and paracaval lymph node dissection and is followed up with the intent to initiate vascular endothelial growth factor–targeted therapy in case of recurrence.

  15. High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA

    OpenAIRE

    Benjamin Powers; Diane Persons; Deepthi Rao; Janet Woodroof; Lin, Tara L.

    2015-01-01

    Acute promyelocytic leukemia (APL) is classically characterized by chromosomal translocation (15;17), resulting in the PML-RARA fusion protein leading to disease. Here, we present a case of a 50-year-old man who presented with signs and symptoms of acute leukemia with concern for APL. Therapy was immediately initiated with all-trans retinoic acid. The morphology of his leukemic blasts was consistent with the hypogranular variant of APL. Subsequent FISH and cytogenetic analysis revealed a uniq...

  16. Chromosomal abnormalities and polymorphic variants in couples with repeated miscarriage in Mexico.

    Science.gov (United States)

    De la Fuente-Cortés, Beatriz E; Cerda-Flores, Ricardo M; Dávila-Rodríguez, Martha I; García-Vielma, Catalina; De la Rosa Alvarado, Rosa M; Cortés-Gutiérrez, Elva I

    2009-04-01

    Cytogenetic studies have an important role in the evaluation of couples with repeated miscarriages and poor obstetric history. To estimate the prevalence of chromosomal abnormalities and polymorphic variants in 158 couples with repeated miscarriages, a cross-sectional study was conducted in Monterrey, Mexico from 1995 to 2003. Peripheral blood lymphocytes were cultured for chromosomal studies using standard methods. Twelve couples showed chromosomal abnormalities (7.60%), two Robertsonian translocations (1.27%), two balanced translocations (1.27%), one inversion (0.63%), and one a novel insertion (0.63%). This insertion [46, XX, ins (15;8) (q26;p11p23)] is unique, and is the third reported in association with repeated abortion. Mosaicism was observed in six couples (3.80%, three with structural abnormalities and three with numerical abnormalities). A female to male ratio of 1.4:1 was observed. In addition to these chromosomal abnormalities, polymorphic variants in constitutive heterochromatin of the 1qh+, 9qh+, and 16qh+ chromosomes were observed in 25 couples (15.82%), of the Yqh+ chromosome in 21 couples (13.29%), and of satellite in 35 couples (22.15%). In conclusion, chromosome analysis is necessary for appropriate clinical management of these patients.

  17. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult

    Energy Technology Data Exchange (ETDEWEB)

    Papenhausen, P.R.; Mueller, O.T.; Sutcliffe, M.; Diamond, T.M.; Kousseff, B.G. [Univ. of South Florida College of Medicine, Tampa, FL (United States); Johnson, V.P. [Univ. of South Dakota, Sioux Falls, SD (United States)

    1995-11-20

    Uniparental disomy (UPD) of a number of different chromosomes has been found in association with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UPD of chromosome 14 studied in late gestation due to polyhydramnios and a ventral wall hernia. A prenatal karyotype documented a balanced Robertsonian 14:14 translocation. The baby was born prematurely with hairy forehead, retrognathia, mild puckering of the lips and finger contractures. Hypotonia has persisted since birth and at age one year, a tracheostomy for laryngomalacia and gastrostomy for feeding remain necessary. Absence of maternal VNTR polymorphisms and homozygosity of paternal polymorphisms using chromosome 14 specific probes at D14S22 and D14S13 loci indicated paternal uniparental isodisomy (pUPID). Parental chromosomes were normal. We also report on a case of maternal LTPD in a normal patient with a balanced Robertsonian 14:14 translocation and a history of multiple miscarriages. Five previous reports of chromosome 14 UPD suggest that an adverse developmental effect may be more severe whenever the UPD is paternal in origin. This is the second reported patient with paternal UPD and the fifth reported with maternal UPD, and only few phenotypic similarities are apparent. Examination of these chromosome 14 UPD cases of maternal and paternal origin suggests that there are syndromic imprinting effects. 30 refs., 3 figs.

  18. Chromosomal manipulation by site-specific recombinases and fluorescent protein-based vectors.

    Directory of Open Access Journals (Sweden)

    Munehiro Uemura

    Full Text Available Feasibility of chromosomal manipulation in mammalian cells was first reported 15 years ago. Although this technique is useful for precise understanding of gene regulation in the chromosomal context, a limited number of laboratories have used it in actual practice because of associated technical difficulties. To overcome the practical hurdles, we developed a Cre-mediated chromosomal recombination system using fluorescent proteins and various site-specific recombinases. These techniques enabled quick construction of targeting vectors, easy identification of chromosome-rearranged cells, and rearrangement leaving minimum artificial elements at junctions. Applying this system to a human cell line, we successfully recapitulated two types of pathogenic chromosomal translocations in human diseases: MYC/IgH and BCR/ABL1. By inducing recombination between two loxP sites targeted into the same chromosome, we could mark cells harboring deletion or duplication of the inter-loxP segments with different colors of fluorescence. In addition, we demonstrated that the intrachromosomal recombination frequency is inversely proportional to the distance between two recombination sites, implicating a future application of this frequency as a proximity sensor. Our method of chromosomal manipulation can be employed for particular cell types in which gene targeting is possible (e.g. embryonic stem cells. Experimental use of this system would open up new horizons in genome biology, including the establishment of cellular and animal models of diseases caused by translocations and copy-number variations.

  19. Mechanisms of induction of chromosomal aberrations and their detection by fluorescence in situ hybridization

    International Nuclear Information System (INIS)

    Recently introduced fluorescence in situ hybridization (FISH) technique employing chromosome specific DNA libraries as well as region specific DNA probes (e.g., centromere, telomere) have helped to analyse chromosomal aberrations in great detail and thus have given some new insights into the mechanisms of induction of chromosomal aberrations. The relative proportion of induction of translocations and dicentrics by ionising radiation was studied in human, mice and Chinese hamster cells. Many of the studies point to the differences between the mechanisms of induction of dicentrics and translocations. Preliminary results obtained in our laboratory using arm specific probes for human chromosomes 1 and 3 indicate that the aberrations between the arms appear to be more than expected on a random basis. By employing telomeric probes the frequencies of interstitial deletions were found to be high and similar to the frequencies of dicentrics both in human and mouse lymphocytes. A recent study with human chromosome specific probes clearly shows variation of sensitivity of chromosomes for the induction of exchange aberrations. Radiation response studies with Chinese hamster cells using telomeric probes, suggest that telomeric sequences, especially interstitial ones appear to be an important factor in the origin of both spontaneous and induced chromosomal aberrations

  20. Familial cryptic translocation resulting in Angelman syndrome: Implications for imprinting or location of the Angelman gene?

    Energy Technology Data Exchange (ETDEWEB)

    Burke, L.W.; Wiley, J.E.; Smith, A.J.W.; Kushnick, T. [East Carolina Univ. School of Medicine, Greenville, NC (United States)] [and others

    1996-04-01

    Angelman syndrome (AS) is associated with a loss of maternal genetic information, which typically occurs as a result of a deletion at 15q11-q13 or paternal uniparental disomy of chromosome 15. We report a patient with AS as a result of an unbalanced cryptic translocation whose breakpoint, at 15q11.2, falls within this region. The proband was diagnosed clinically as having Angelman syndrome, but without a detectable cytogenetic deletion, by using high-resolution G-banding. FISH detected a deletion of D15S11 (IR4-3R), with an intact GABRB3 locus. Subsequent studies of the proband`s mother and sister detected a cryptic reciprocal translocation between chromosomes 14 and 15 with the breakpoint being between SNRPN and D15S10. The proband was found to have inherited an unbalanced form, being monosomic from 15pter through SNRPN and trisomic for 14pter to 14q11.2. DNA methylation studies showed that the proband had a paternal-only DNA methylation pattern at SNRPN, D15S63 (PW71), and ZNF127. The mother and unaffected sister, both having the balanced translocation, demonstrated normal DNA methylation patterns at all three loci. These data suggest that the gene for AS most likely lies proximal to D15S10, in contrast to the previously published position, although a less likely possibility is that the maternally inherited imprinting center acts in trans in the unaffected balanced translocation carrier sister. 27 refs., 6 figs.

  1. Chromosomal mosaicism in mouse two-cell embryos after paternal exposure to acrylamide

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, Francesco; Bishop, Jack; Lowe, Xiu; Wyrobek, Andrew J

    2008-10-14

    Chromosomal mosaicism in human preimplantation embryos is a common cause ofspontaneous abortions, however, our knowledge of its etiology is limited. We used multicolor fluorescence in situ hybridization (FISH) painting to investigate whether paternally-transmitted chromosomal aberrations result in mosaicism in mouse 2-cell embryos. Paternal exposure to acrylamide, an important industrial chemical also found in tobacco smoke and generated during the cooking process of starchy foods, produced significant increases in chromosomally defective 2-cell embryos, however, the effects were transient primarily affecting the postmeiotic stages of spermatogenesis. Comparisons with our previous study of zygotes demonstrated similar frequencies of chromosomally abnormal zygotes and 2-cell embryos suggesting that there was no apparent selection against numerical or structural chromosomal aberrations. However, the majority of affected 2-cell embryos were mosaics showing different chromosomal abnormalities in the two blastomeric metaphases. Analyses of chromosomal aberrations in zygotes and 2-cell embryos showed a tendency for loss of acentric fragments during the first mitotic division ofembryogenesis, while both dicentrics and translocations apparently underwent propersegregation. These results suggest that embryonic development can proceed up to the end of the second cell cycle of development in the presence of abnormal paternal chromosomes and that even dicentrics can persist through cell division. The high incidence of chromosomally mosaic 2-cell embryos suggests that the first mitotic division of embryogenesis is prone to missegregation errors and that paternally-transmitted chromosomal abnromalities increase the risk of missegregation leading to embryonic mosaicism.

  2. Stacked thin layers of metaphase chromatin explain the geometry of chromosome rearrangements and banding.

    Science.gov (United States)

    Daban, Joan-Ramon

    2015-10-08

    The three-dimensional organization of tightly condensed chromatin within metaphase chromosomes has been one of the most challenging problems in structural biology since the discovery of the nucleosome. This study shows that chromosome images obtained from typical banded karyotypes and from different multicolour cytogenetic analyses can be used to gain information about the internal structure of chromosomes. Chromatin bands and the connection surfaces in sister chromatid exchanges and in cancer translocations are planar and orthogonal to the chromosome axis. Chromosome stretching produces band splitting and even the thinnest bands are orthogonal and well defined, indicating that short stretches of DNA can occupy completely the chromosome cross-section. These observations impose strong physical constraints on models that attempt to explain chromatin folding in chromosomes. The thin-plate model, which consists of many stacked layers of planar chromatin perpendicular to the chromosome axis, is compatible with the observed orientation of bands, with the existence of thin bands, and with band splitting; it is also compatible with the orthogonal orientation and planar geometry of the connection surfaces in chromosome rearrangements. The results obtained provide a consistent interpretation of the chromosome structural properties that are used in clinical cytogenetics for the diagnosis of hereditary diseases and cancers.

  3. A sex chromosomal restriction-fragment-length marker linked to melanoma-determining Tu loci in Xiphophorus.

    Science.gov (United States)

    Schartl, M

    1988-07-01

    In Xiphophorus, the causative genetic information for melanoma formation has been assigned by classical genetics to chromosomal loci, which are located on the sex chromosomes. In our attempts to molecularly clone these melanoma-determining loci, named Tu, we have looked for restriction-fragment-length markers (RFLMs) linked to the Tu loci. These RFLMs should be useful in obtaining a physical map of a Tu locus, which will aid in the cloning of the corresponding sequences. DNA samples from various Xiphophorus strains and hybrids including those bearing different Tu wild-type, deletion and translocation chromosomes, were screened for the presence of random RFLMs using homologous or heterologous sequences as hybridization probes. We find an EcoRI restriction fragment which shows limited crosshybridization to the v-erb B gene--but not representing the authentic c-erb B gene of Xiphophorus--to be polymorphic with respect to different sex chromosomes. Linkage analysis revealed that a 5-kb fragment is linked to the Tu-Sd locus on the X chromosome, a 7-kb fragment is linked to the Tu-Sr locus on the Y chromosome, both of Xiphophorus maculatus, and that a 12-kb fragment is linked to the Tu-Li locus on the X chromosome of Xiphophorus variatus. Using different chromosomal mutants this RFLM has been mapped to a frequent deletion/translocation breakpoint of the X chromosome, less than 0.3 cM apart from the Tu locus. PMID:2841190

  4. Translocation pathways for inhaled asbestos fibers

    Directory of Open Access Journals (Sweden)

    Mantegazza F

    2008-01-01

    Full Text Available Abstract We discuss the translocation of inhaled asbestos fibers based on pulmonary and pleuro-pulmonary interstitial fluid dynamics. Fibers can pass the alveolar barrier and reach the lung interstitium via the paracellular route down a mass water flow due to combined osmotic (active Na+ absorption and hydraulic (interstitial pressure is subatmospheric pressure gradient. Fibers can be dragged from the lung interstitium by pulmonary lymph flow (primary translocation wherefrom they can reach the blood stream and subsequently distribute to the whole body (secondary translocation. Primary translocation across the visceral pleura and towards pulmonary capillaries may also occur if the asbestos-induced lung inflammation increases pulmonary interstitial pressure so as to reverse the trans-mesothelial and trans-endothelial pressure gradients. Secondary translocation to the pleural space may occur via the physiological route of pleural fluid formation across the parietal pleura; fibers accumulation in parietal pleura stomata (black spots reflects the role of parietal lymphatics in draining pleural fluid. Asbestos fibers are found in all organs of subjects either occupationally exposed or not exposed to asbestos. Fibers concentration correlates with specific conditions of interstitial fluid dynamics, in line with the notion that in all organs microvascular filtration occurs from capillaries to the extravascular spaces. Concentration is high in the kidney (reflecting high perfusion pressure and flow and in the liver (reflecting high microvascular permeability while it is relatively low in the brain (due to low permeability of blood-brain barrier. Ultrafine fibers (length

  5. Stochastic resonance during a polymer translocation process.

    Science.gov (United States)

    Mondal, Debasish; Muthukumar, M

    2016-04-14

    We have studied the occurrence of stochastic resonance when a flexible polymer chain undergoes a single-file translocation through a nano-pore separating two spherical cavities, under a time-periodic external driving force. The translocation of the chain is controlled by a free energy barrier determined by chain length, pore length, pore-polymer interaction, and confinement inside the donor and receiver cavities. The external driving force is characterized by a frequency and amplitude. By combining the Fokker-Planck formalism for polymer translocation and a two-state model for stochastic resonance, we have derived analytical formulas for criteria for emergence of stochastic resonance during polymer translocation. We show that no stochastic resonance is possible if the free energy barrier for polymer translocation is purely entropic in nature. The polymer chain exhibits stochastic resonance only in the presence of an energy threshold in terms of polymer-pore interactions. Once stochastic resonance is feasible, the chain entropy controls the optimal synchronization conditions significantly. PMID:27083746

  6. DNA Probe Pooling for Rapid Delineation of Chromosomal Breakpoints

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Chun-Mei; Kwan, Johnson; Baumgartner, Adolf; Weier, Jingly F.; Wang, Mei; Escudero, Tomas; Munne' , Santiago; Zitzelsberger, Horst F.; Weier, Heinz-Ulrich

    2009-01-30

    Structural chromosome aberrations are hallmarks of many human genetic diseases. The precise mapping of translocation breakpoints in tumors is important for identification of genes with altered levels of expression, prediction of tumor progression, therapy response, or length of disease-free survival as well as the preparation of probes for detection of tumor cells in peripheral blood. Similarly, in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) for carriers of balanced, reciprocal translocations benefit from accurate breakpoint maps in the preparation of patient-specific DNA probes followed by a selection of normal or balanced oocytes or embryos. We expedited the process of breakpoint mapping and preparation of case-specific probes by utilizing physically mapped bacterial artificial chromosome (BAC) clones. Historically, breakpoint mapping is based on the definition of the smallest interval between proximal and distal probes. Thus, many of the DNA probes prepared for multi-clone and multi-color mapping experiments do not generate additional information. Our pooling protocol described here with examples from thyroid cancer research and PGD accelerates the delineation of translocation breakpoints without sacrificing resolution. The turnaround time from clone selection to mapping results using tumor or IVF patient samples can be as short as three to four days.

  7. Searching for Electrical Properties, Phenomena and Mechanisms in the Construction and Function of Chromosomes

    Directory of Open Access Journals (Sweden)

    Ivan Kanev

    2013-03-01

    Full Text Available Our studies reveal previously unidentified electrical properties of chromosomes: (1 chromosomes are amazingly similar in construction and function to electrical transformers; (2 chromosomes possess in their construction and function, components similar to those of electric generators, conductors, condensers, switches, and other components of electrical circuits; (3 chromosomes demonstrate in nano-scale level electromagnetic interactions, resonance, fusion and other phenomena similar to those described by equations in classical physics. These electrical properties and phenomena provide a possible explanation for unclear and poorly understood mechanisms in clinical genetics including: (a electrically based mechanisms responsible for breaks, translocations, fusions, and other chromosomal abnormalities associated with cancer, intellectual disability, infertility, pregnancy loss, Down syndrome, and other genetic disorders; (b electrically based mechanisms involved in crossing over, non-disjunction and other events during meiosis and mitosis; (c mechanisms demonstrating heterochromatin to be electrically active and genetically important.

  8. Post-induction residual disease in translocation t(12;21)-positive childhood ALL

    DEFF Research Database (Denmark)

    Seyfarth, Jeanette; Madsen, Hans O; Nyvold, Charlotte;

    2003-01-01

    BACKGROUND: t(12;21)(p1 3;q22), the most frequent chromosomal translocation found in childhood acute lymphoblastic leukemia (ALL), occurs in approximately 25% of B-lineage ALL cases and has been claimed to carry a good prognosis. PROCEDURE: As part of the Nordic Society of Pediatric Hematology...... and Oncology (NOPHO) ALL-MRD 95 study, which includes children from Iceland, Norway, and Denmark diagnose d with ALL, patients were screened for the presence of t(12; 21) by reverse transcriptase-polymerase chain reaction (RT-PCR) at diagnosis, and their residual disease was quantified after 4 weeks...

  9. Mutations, kataegis, and translocations in B lymphocytes: towards a mechanistic understanding of AID promiscuous activity

    Science.gov (United States)

    Casellas, Rafael; Basu, Uttiya; Yewdell, William T.; Chaudhuri, Jayanta; Robbiani, Davide F.; Di Noia, Javier M.

    2016-01-01

    As B cells engage in the immune response they express the deaminase AID to initiate the hypermutation and recombination of immunoglobulin genes, which are crucial processes for the efficient recognition and disposal of pathogens, However, AID must be tightly controlled in B cells to minimize off-targeting mutations, which can drive chromosomal translocations and the development of B cell malignancies, such as lymphomas. Recent genomic and biochemical analyses have begun to unravel the crucial question of how AID-mediated deamination is targeted outside immunoglobulin genes. Here, we discuss the transcriptional and topological features that are emerging as key drivers of AID promiscuous activity. PMID:26898111

  10. Nuclear translocation and retention of growth hormone

    DEFF Research Database (Denmark)

    Mertani, Hichem C; Raccurt, Mireille; Abbate, Aude;

    2003-01-01

    We have previously demonstrated that GH is subject to rapid receptor-dependent nuclear translocation. Here, we examine the importance of ligand activation of the GH-receptor (GHR)-associated Janus kinase (JAK) 2 and receptor dimerization for hormone internalization and nuclear translocation by use...... of cells stably transfected with cDNA for the GHR. Staurosporine and herbimycin A treatment of cells did not affect the ability of GH to internalize but resulted in increased nuclear accumulation of hormone. Similarly, receptor mutations, which prevent the association and activation of JAK2, did not affect...... the ability of the hormone to internalize or translocate to the nucleus but resulted in increased nuclear accumulation of GH. These results were observed both by nuclear isolation and confocal laser scanning microscopy. Staurosporine treatment of cells in which human GH (hGH) was targeted to the cytoplasm...

  11. Liver Cirrhosis and Intestinal Bacterial Translocation

    Institute of Scientific and Technical Information of China (English)

    2014-01-01

    Intestinal barrier dysfunction, facilitating translocation of bacteria and bacterial products, plays an important role in the pathophysiology of liver cirrhosis and its complications. Intestinal defense system including microbial barrier, immunologic barrier, mechanical barrier, chemical barrier, plays an important role in the maintenance of intestinal function. Under normal circumstances, the intestinal barrier can prevent intestinal bacteria through the intestinal wall from spreading to the body. Severe infection, trauma, shock, cirrhosis, malnutrition, immune suppression conditions, intestinal bacteria and endotoxin translocation, can lead to multiple organ dysfunction. The intestinal microlfora is not only involved in the digestion of nutrients, but also in local immunity, forming a barrier against pathogenic microorganisms. The derangement of the gut microlfora may lead to microbial translocation, deifned as the passage of viable microorganisms or bacterial products from the intestinal lumen to the mesenteric lymph nodes and other extraintestinal sites. In patients with cirrhosis, primary and intestinal lfora imbalance, intestinal bacterial overgrowth, intestinal mucosal barrier dysfunction, endotoxemia is associated with weakened immunity.

  12. Rank Modulation for Translocation Error Correction

    CERN Document Server

    Farnoud, Farzad; Milenkovic, Olgica

    2012-01-01

    We consider rank modulation codes for flash memories that allow for handling arbitrary charge drop errors. Unlike classical rank modulation codes used for correcting errors that manifest themselves as swaps of two adjacently ranked elements, the proposed \\emph{translocation rank codes} account for more general forms of errors that arise in storage systems. Translocations represent a natural extension of the notion of adjacent transpositions and as such may be analyzed using related concepts in combinatorics and rank modulation coding. Our results include tight bounds on the capacity of translocation rank codes, construction techniques for asymptotically good codes, as well as simple decoding methods for one class of structured codes. As part of our exposition, we also highlight the close connections between the new code family and permutations with short common subsequences, deletion and insertion error-correcting codes for permutations and permutation arrays.

  13. Sequential cloning of chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Lacks, S.A.

    1991-12-31

    A method for sequential cloning of chromosomal DNA and chromosomal DNA cloned by this method are disclosed. The method includes the selection of a target organism having a segment of chromosomal DNA to be sequentially cloned. A first DNA segment, having a first restriction enzyme site on either side. homologous to the chromosomal DNA to be sequentially cloned is isolated. A first vector product is formed by ligating the homologous segment into a suitably designed vector. The first vector product is circularly integrated into the target organism`s chromosomal DNA. The resulting integrated chromosomal DNA segment includes the homologous DNA segment at either end of the integrated vector segment. The integrated chromosomal DNA is cleaved with a second restriction enzyme and ligated to form a vector-containing plasmid, which is replicated in a host organism. The replicated plasmid is then cleaved with the first restriction enzyme. Next, a DNA segment containing the vector and a segment of DNA homologous to a distal portion of the previously isolated DNA segment is isolated. This segment is then ligated to form a plasmid which is replicated within a suitable host. This plasmid is then circularly integrated into the target chromosomal DNA. The chromosomal DNA containing the circularly integrated vector is treated with a third, retrorestriction enzyme. The cleaved DNA is ligated to give a plasmid that is used to transform a host permissive for replication of its vector. The sequential cloning process continues by repeated cycles of circular integration and excision. The excision is carried out alternately with the second and third enzymes.

  14. Screening and chromosome localization of two cotton BAC clones.

    Science.gov (United States)

    Cui, Xinglei; Liu, Fang; Liu, Yuling; Zhou, Zhongli; Wang, Chunying; Yanyan Zhao; Meng, Fei; Wang, Xingxing; Cai, Xiaoyan; Wang, Yuhong; Peng, Renhai; Wang, Kunbo

    2016-01-01

    Two bacterial artificial chromosome (BAC) clones (350B21 and 299N22) of Pima 90-53 cotton [Gossypium barbadense Linnaeus, 1753 (2n=4x=52)] were screened from a BAC library using SSR markers. Strong hybridization signals were detected at terminal regions of all A genome (sub-genome) chromosomes, but were almost absent in D genome (sub-genome) chromosomes with BAC clone 350B21 as the probe. The results indicate that specific sequences, which only exist at the terminal parts of A genome (sub-genome) chromosomes with a huge repeat number, may be contained in BAC clone 350B21. When utilizing FISH with the BAC clone 299N22 as probe, a pair of obvious signals was detected on chromosome 13 of D genome (sub-genome), while strong dispersed signals were detected on all A genome (sub-genome) chromosomes. The results showed that peculiar repetitive sequence, which was distributed throughout all A genome (sub-genome) chromosomes, may exist in BAC clone 299N22. The absence of the repetitive sequences, which exist in the two BAC clones, in D genome may account for the genome-size variation between A and D genomes. In addition, the microcolinearity analysis of the clone 299N22 and its homologous region on Gossypium raimondii Ulbrich, 1932 chromosome 13 (D513) indicated that the clone 299N22 might come from A sub-genome of sea island cotton (Gossypium barbadense), and a huge number of small deletions, illegitimate recombination, translocation and rearrangements may have occurred during the genus evolution. The two BAC clones studied here can be used as cytological markers but will be also be helpful to research in cotton genome evolution and comparative genomics. PMID:27186333

  15. CHROMOSOMES OF AMERICAN MARSUPIALS.

    Science.gov (United States)

    BIGGERS, J D; FRITZ, H I; HARE, W C; MCFEELY, R A

    1965-06-18

    Studies of the chromosomes of four American marsupials demonstrated that Caluromys derbianus and Marmosa mexicana have a diploid number of 14 chromosomes, and that Philander opossum and Didelphis marsupialis have a diploid number of 22. The karyotypes of C. derbianus and M. mexicana are similar, whereas those of P. opossum and D. marsupialis are dissimilar. If the 14-chromosome karyotype represents a reduction from a primitive number of 22, these observations suggest that the change has occurred independently in the American and Australasian forms.

  16. A high incidence of meiotic silencing of unsynapsed chromatin is not associated with substantial pachytene loss in heterozygous male mice carrying multiple simple robertsonian translocations.

    Directory of Open Access Journals (Sweden)

    Marcia Manterola

    2009-08-01

    Full Text Available Meiosis is a complex type of cell division that involves homologous chromosome pairing, synapsis, recombination, and segregation. When any of these processes is altered, cellular checkpoints arrest meiosis progression and induce cell elimination. Meiotic impairment is particularly frequent in organisms bearing chromosomal translocations. When chromosomal translocations appear in heterozygosis, the chromosomes involved may not correctly complete synapsis, recombination, and/or segregation, thus promoting the activation of checkpoints that lead to the death of the meiocytes. In mammals and other organisms, the unsynapsed chromosomal regions are subject to a process called meiotic silencing of unsynapsed chromatin (MSUC. Different degrees of asynapsis could contribute to disturb the normal loading of MSUC proteins, interfering with autosome and sex chromosome gene expression and triggering a massive pachytene cell death. We report that in mice that are heterozygous for eight multiple simple Robertsonian translocations, most pachytene spermatocytes bear trivalents with unsynapsed regions that incorporate, in a stage-dependent manner, proteins involved in MSUC (e.g., gammaH2AX, ATR, ubiquitinated-H2A, SUMO-1, and XMR. These spermatocytes have a correct MSUC response and are not eliminated during pachytene and most of them proceed into diplotene. However, we found a high incidence of apoptotic spermatocytes at the metaphase stage. These results suggest that in Robertsonian heterozygous mice synapsis defects on most pachytene cells do not trigger a prophase-I checkpoint. Instead, meiotic impairment seems to mainly rely on the action of a checkpoint acting at the metaphase stage. We propose that a low stringency of the pachytene checkpoint could help to increase the chances that spermatocytes with synaptic defects will complete meiotic divisions and differentiate into viable gametes. This scenario, despite a reduction of fertility, allows the spreading

  17. A High Incidence of Meiotic Silencing of Unsynapsed Chromatin Is Not Associated with Substantial Pachytene Loss in Heterozygous Male Mice Carrying Multiple Simple Robertsonian Translocations

    Science.gov (United States)

    Vasco, Chiara; Berríos, Soledad; Parra, María Teresa; Viera, Alberto; Rufas, Julio S.; Zuccotti, Maurizio; Garagna, Silvia; Fernández-Donoso, Raúl

    2009-01-01

    Meiosis is a complex type of cell division that involves homologous chromosome pairing, synapsis, recombination, and segregation. When any of these processes is altered, cellular checkpoints arrest meiosis progression and induce cell elimination. Meiotic impairment is particularly frequent in organisms bearing chromosomal translocations. When chromosomal translocations appear in heterozygosis, the chromosomes involved may not correctly complete synapsis, recombination, and/or segregation, thus promoting the activation of checkpoints that lead to the death of the meiocytes. In mammals and other organisms, the unsynapsed chromosomal regions are subject to a process called meiotic silencing of unsynapsed chromatin (MSUC). Different degrees of asynapsis could contribute to disturb the normal loading of MSUC proteins, interfering with autosome and sex chromosome gene expression and triggering a massive pachytene cell death. We report that in mice that are heterozygous for eight multiple simple Robertsonian translocations, most pachytene spermatocytes bear trivalents with unsynapsed regions that incorporate, in a stage-dependent manner, proteins involved in MSUC (e.g., γH2AX, ATR, ubiquitinated-H2A, SUMO-1, and XMR). These spermatocytes have a correct MSUC response and are not eliminated during pachytene and most of them proceed into diplotene. However, we found a high incidence of apoptotic spermatocytes at the metaphase stage. These results suggest that in Robertsonian heterozygous mice synapsis defects on most pachytene cells do not trigger a prophase-I checkpoint. Instead, meiotic impairment seems to mainly rely on the action of a checkpoint acting at the metaphase stage. We propose that a low stringency of the pachytene checkpoint could help to increase the chances that spermatocytes with synaptic defects will complete meiotic divisions and differentiate into viable gametes. This scenario, despite a reduction of fertility, allows the spreading of Robertsonian

  18. Transcription-associated processes cause DNA double-strand breaks and translocations in neural stem/progenitor cells.

    Science.gov (United States)

    Schwer, Bjoern; Wei, Pei-Chi; Chang, Amelia N; Kao, Jennifer; Du, Zhou; Meyers, Robin M; Alt, Frederick W

    2016-02-23

    High-throughput, genome-wide translocation sequencing (HTGTS) studies of activated B cells have revealed that DNA double-strand breaks (DSBs) capable of translocating to defined bait DSBs are enriched around the transcription start sites (TSSs) of active genes. We used the HTGTS approach to investigate whether a similar phenomenon occurs in primary neural stem/progenitor cells (NSPCs). We report that breakpoint junctions indeed are enriched around TSSs that were determined to be active by global run-on sequencing analyses of NSPCs. Comparative analyses of transcription profiles in NSPCs and B cells revealed that the great majority of TSS-proximal junctions occurred in genes commonly expressed in both cell types, possibly because this common set has higher transcription levels on average than genes transcribed in only one or the other cell type. In the latter context, among all actively transcribed genes containing translocation junctions in NSPCs, those with junctions located within 2 kb of the TSS show a significantly higher transcription rate on average than genes with junctions in the gene body located at distances greater than 2 kb from the TSS. Finally, analysis of repair junction signatures of TSS-associated translocations in wild-type versus classical nonhomologous end-joining (C-NHEJ)-deficient NSPCs reveals that both C-NHEJ and alternative end-joining pathways can generate translocations by joining TSS-proximal DSBs to DSBs on other chromosomes. Our studies show that the generation of transcription-associated DSBs is conserved across divergent cell types.

  19. Unbalanced interchromosomal insertion diagnosed prenatally by FISH, with carrier mother, previously misdiagnosed as having a balanced reciprocal translocation

    Energy Technology Data Exchange (ETDEWEB)

    Yu, M.T.; Leiber, E.; Qazi, Q. [and others

    1994-09-01

    Insertion translocations are rare. A carrier with a balanced insertion translocation is most likely to be detected through offspring with an unbalanced translocation. We with to report a case where a correct diagnosis, made prenatally with FISH, corrected the initial misdiagnosis of the mother in another institute. PDL received an amniotic fluid sample from a 28 y.o. woman (G5P2Sab1TOP1) at 19 wks gestation. The indications were a reported balanced translocation, t(6;13), in the mother and a previous daughter with an unbalanced translocation. Chromosome analysis of the amniocytes showed a female karyotype with an abnormal chr. 13. Since the mother was diagnosed as having t(6;13)(q21;q34), the der(13) in the amniocytes was initially assumed to result from an adjacent segregation of the t(6;13). However, the banding patterns of this abnormal chr. 13 did not fit into the above defined translocation. With FISH and a chr. 13 painting probe, this der(13) was painted in the proximal and the distal thirds, but NOT in the middle region. This indicates that the middle section of the der(13) must have originated from 6q. The banding pattern is compatible with a direct insertion of 6q15 to 6q23.3 into 13q21.2. Thus, the fetus has partial trisomy 6q. After counseling, the mother elected to terminate the pregnancy but later changed her mind. An 8 lb 12 oz baby girl was born at 36 wks. (mother diabetic). Chromosome analysis of the newborn blood confirmed the dx. The mother was studied, using multicolor painting probes for chromosomes 13 and 6, a balanced direct insertion of 6q15 to 6q23.3 into chr. 13q21.2 was clearly shown. The previous affected daughter with a 13q+ is now 4 y.o. (a restudy is planned). She has microcephaly, severe developmental delay and other dysmorphic features. This case illustrates the advantage of using FISH to arrive at a definitive diagnosis of an insertion translocation.

  20. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  1. Chromosome condensation and segmentation

    International Nuclear Information System (INIS)

    Some aspects of chromosome condensation in mammalians -humans especially- were studied by means of cytogenetic techniques of chromosome banding. Two further approaches were adopted: a study of normal condensation as early as prophase, and an analysis of chromosome segmentation induced by physical (temperature and γ-rays) or chemical agents (base analogues, antibiotics, ...) in order to show out the factors liable to affect condensation. Here 'segmentation' means an abnormal chromosome condensation appearing systematically and being reproducible. The study of normal condensation was made possible by the development of a technique based on cell synchronization by thymidine and giving prophasic and prometaphasic cells. Besides, the possibility of inducing R-banding segmentations on these cells by BrdU (5-bromodeoxyuridine) allowed a much finer analysis of karyotypes. Another technique was developed using 5-ACR (5-azacytidine), it allowed to induce a segmentation similar to the one obtained using BrdU and identify heterochromatic areas rich in G-C bases pairs

  2. Chromosomal Abnormalties with Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-02-01

    Full Text Available The correlation between specific chromosome abnormalties and various epilepsies was investigated by a study of 76 patients’ records obtained by questionnaires distributed to members of Kyoto Multi-institutional Study Group of Pediatric Neurology.

  3. Use of radiation to transfer alien chromosome segments to wheat

    International Nuclear Information System (INIS)

    Ionizing radiation can accomplish the transfer of genetic information from species so distantly related to wheat (Triticum aestivum L. em Thell.) that their chromosomes pair very little, if at all, with those of wheat, even in the absence of the homoeologous-pairing suppressor Ph1. In a successful transfer, the alien segment must almost always replace a homoeologous wheat segment, but radiation induces translocations largely at random; therefore automatic selection in favor of desirable translocations must be provided if the size of the project is to be kept within reasonable limits. Pollen selection will occur if seeds or plants monosomic for both an alien chromosome and one of its wheat homoeologues are irradiated. Making the plants also deficient for Ph1 may increase the number of suitable transfers. High-frequency occurrence of the desired alien character in M2 head-rows from plants grown from irradiated seed can identify favorable transfers with little cytological work. Irradiation of plants shortly before meiosis, using them to pollinate ditelosomics or double ditelosomics for the wheat arm or chromosome concerned, and cytologically examining offspring which have the alien character can not only identify the desirable transfers, but also reveal the lengths of the alien segments involved

  4. Chimpanzee chromosome 13 is homologous to human chromosome 2p

    Energy Technology Data Exchange (ETDEWEB)

    Sun, N. C.; Sun, C. R.Y.; Ho, T.

    1977-01-01

    Similarities between human and chimpanzee chromosomes are shown by chromosome banding techniques and somatic cell hybridization techniques. Cell hybrids were obtained from the chimpanzee lymphocyte LE-7, and the Chinese hamster mutant cell, Gal-2. Experiments showed that the ACPL, MDHs, and Gal-Act genes could be assigned to chimpanzee chromosome 13, and since these genes have been assigned to human chromosme 2p, it is suggested that chimpanzee chromosome 13 is homologous to human chromosome 2p. (HLW)

  5. Chromosome doubling method

    Science.gov (United States)

    Kato, Akio

    2006-11-14

    The invention provides methods for chromosome doubling in plants. The technique overcomes the low yields of doubled progeny associated with the use of prior techniques for doubling chromosomes in plants such as grasses. The technique can be used in large scale applications and has been demonstrated to be highly effective in maize. Following treatment in accordance with the invention, plants remain amenable to self fertilization, thereby allowing the efficient isolation of doubled progeny plants.

  6. A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype.

    Science.gov (United States)

    Estabrooks, L L; Lamb, A N; Kirkman, H N; Callanan, N P; Rao, K W

    1992-11-01

    We report two families with a satellited chromosome 4 short arm (4ps). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited nonacrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is the first report of 4ps chromosomes. Our families are remarkable in that both unaffected and affected individuals carry the 4ps chromosome. The phenotypes observed in affected individuals, although dissimilar, were sufficient to encourage a search for a deletion of chromosome 4p. By Southern blot analysis and fluorescence in situ hybridization, a deletion of material mapping approximately 150 kb from chromosome 4pter was discovered. This deletion is notable because it does not result in the Wolf-Hirschhorn syndrome and can result in an apparently normal phenotype. We speculate that homology between subterminal repeat sequences on 4p and sequences on the acrocentric short arms may explain the origin of the rearrangement and that position effect may play a role in the expression of the abnormal phenotype.

  7. Tissue Nitrogen and Fructan Translocation in Bread Wheat

    Institute of Scientific and Technical Information of China (English)

    HOU You-liang; L.O'Brien; ZHONG Gai-rong

    2002-01-01

    Translocation of previously accumulated nitrogen and carbohydrates from vegetative tissue of the wheat plant is a major assimilate source for grain filling. This study was conducted to examine genotype differences in nitrogen and fructan translocation and their relationships to grain yield and protein content. Effects indicated that significant genotype differences existed for nitrogen accumulation at anthesis and fructan at milk stage and their translocation. Two high protein genotypes, Cunningham and PST90-19, accumulated more nitrogen before anthesis and had greater nitrogen translocation, but lower post-anthesis nitrogen uptake,than two low protein genotypes, SUN109A and TM56. Among plant parts, leaves were the major storage for tissue nitrogen and provided the overwhelming proportion of the total nitrogen translocation, whereas for fructan accumulation and translocation it was the stems. The two high protein genotypes had a higher percentage of their grain nitrogen derived from nitrogen translocation, while for the two low protein ones, it was from postanthesis nitrogen uptake and assimilation. Increasing nitrogen application increased nitrogen accumulation and translocation, but decreased fructan accumulation and translocation. High grain protein content was associated with high nitrogen translocation from leaves, stems and the total plant, while high grain yield was related to high fructan translocation from stems and the total plant. Fructan translocation was negatively correlated to grain protein content. Nitrogen and fructan translocation were not correlated with each other.

  8. Chromosomal aberrations as etiological factors of intrauterine growth retardation

    Directory of Open Access Journals (Sweden)

    Petrović Bojana

    2008-01-01

    Full Text Available Background/Aim. Intrauterine growth retardation (IUGR is a pathological condition of pregnancy characterised by birth weight below the 10th centile. A number of fetal, placental and maternal causes can lead to IUGR; although, in most cases no specific causes can be identified. The aim of this study was to determine the part of chromosomal abnormalities in IUGR etiology. Methods. Fetal blood karyotype taken by cordocentesis from 168 fetuses with diagnosed IUGR was analyzed. Results. Chromosomal rearrangements both numerical and structural were detected in 14 cases (12.2%. Two cases were triploid. Patau syndrome, Edwards syndrome and Down syndrome were found in two cases each. There was one case of trisomy 7 (47, XY, +7 and one case of trisomy 16 (47, XX, +16; one translocation, 46, XY, t (2; 14(q23; q32 and a deletion 46, XYdel (12 (p12 as well as two cases of sex chromosomes abnormalities, 45, X (Turner syndrome and 47, XYY. Conclusion. These findings suggest that a consistent number of symmetrical IUGR cases (about 12% can be associated with chromosomal rearrangements. Chromosomal aberrations that cause IUGR are heterogeneous, aberration of autosomes, mostly autosomal trisomies, being the most common.

  9. Nitrogen uptake and translocation by Chara

    NARCIS (Netherlands)

    Vermeer, C.P.; Escher, M.; Portielje, R.; Klein, de J.J.M.

    2003-01-01

    The potential for above-ground and below-ground uptake and subsequent internal translocation of ammonium (NH4+) and nitrate (NO3-) by the macroalga Chara spp. was investigated. In a two compartment experimental set-up separating above-ground and below-ground algal parts, the charophytes were exposed

  10. Micromechanics of human mitotic chromosomes

    International Nuclear Information System (INIS)

    Eukaryote cells dramatically reorganize their long chromosomal DNAs to facilitate their physical segregation during mitosis. The internal organization of folded mitotic chromosomes remains a basic mystery of cell biology; its understanding would likely shed light on how chromosomes are separated from one another as well as into chromosome structure between cell divisions. We report biophysical experiments on single mitotic chromosomes from human cells, where we combine micromanipulation, nano-Newton-scale force measurement and biochemical treatments to study chromosome connectivity and topology. Results are in accord with previous experiments on amphibian chromosomes and support the 'chromatin network' model of mitotic chromosome structure. Prospects for studies of chromosome-organizing proteins using siRNA expression knockdowns, as well as for differential studies of chromosomes with and without mutations associated with genetic diseases, are also discussed

  11. Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days.

    Directory of Open Access Journals (Sweden)

    Mei Wang

    2010-02-01

    Full Text Available Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or disease, impaired chromosome homologue pairing in meiosis and karyokinesis errors lead to over-representation of translocations carriers in the infertile population and in recurrent pregnancy loss patients. At present, clinicians have no means to select healthy germ cells or balanced zygotes in vivo, but in vitro fertilization (IVF followed by preimplantation genetic diagnosis (PGD offers translocation carriers a chance to select balanced or normal embryos for transfer. Although a combination of telomeric and centromeric probes can differentiate embryos that are unbalanced from normal or unbalanced ones, a seemingly random position of breakpoints in these IVF-patients poses a serious obstacle to differentiating between normal and balanced embryos, which for most translocation couples, is desirable. Using a carrier with reciprocal translocation t(4;13 as an example, we describe our state-of-the-art approach to the preparation of patient-specific DNA probes that span or 'extent' the breakpoints. With the techniques and resources described here, most breakpoints can be accurately mapped in a matter of days using carrier lymphocytes, and a few extra days are allowed for PGD-probe optimization. The optimized probes will then be suitable for interphase cell analysis, a prerequisite for PGD since blastomeres are biopsied from normally growing day 3--embryos regardless of their position in the mitotic cell cycle. Furthermore, routine application of these rapid methods should make PGD even more affordable for translocation carriers enrolled in IVF programs.

  12. Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days.

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Chun-Mei; Kwan, Johnson; Weier, Jingly F.; Baumgartner, Aldof; Wang, Mei; Escudero, Tomas; Munne, Santiago; Weier, Heinz-Ulrich

    2009-02-25

    Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or disease, impaired chromosome homologue pairing in meiosis and karyokinesis errors lead to over-representation of translocations carriers in the infertile population and in recurrent pregnancy loss patients. At present, clinicians have no means to select healthy germ cells or balanced zygotes in vivo, but in vitro fertilization (IVF) followed by preimplantation genetic diagnosis (PGD) offers translocation carriers a chance to select balanced or normal embryos for transfer. Although a combination of telomeric and centromeric probes can differentiate embryos that are unbalanced from normal or unbalanced ones, a seemingly random position of breakpoints in these IVF-patients poses a serious obstacle to differentiating between normal and balanced embryos, which for most translocation couples, is desirable. Using a carrier with reciprocal translocation t(4;13) as an example, we describe our state-of-the-art approach to the preparation of patient-specific DNA probes that span or 'extent' the breakpoints. With the techniques and resources described here, most breakpoints can be accurately mapped in a matter of days using carrier lymphocytes, and a few extra days are allowed for PGD-probe optimization. The optimized probes will then be suitable for interphase cell analysis, a prerequisite for PGD since blastomeres are biopsied from normally growing day 3 - embryos regardless of their position in the mitotic cell cycle. Furthermore, routine application of these rapid methods should make PGD even more affordable for translocation carriers enrolled in IVF programs.

  13. Impact of various parameters in detecting chromosomal aberrations by FISH to describe radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Keller, U.; Mueller, E.; Grabenbauer, G.; Sauer, R.; Distel, L. [Div. of Radiobiology, Dept. of Radiotherapy, Erlangen (Germany); Kuechler, A. [Div. of Radiotherapy, Dept. of Radiology, Jena (Germany); Inst. for Human Genetics and Anthropology, Jena (Germany); Liehr, T. [Inst. for Human Genetics and Anthropology, Jena (Germany)

    2004-05-01

    Background and purpose: analysis of radiation-induced chromosomal aberrations is regarded as the ''gold standard'' for classifying individual radiosensitivity. A variety of different parameters can be used. The crucial question, however, is to explore which parameter is suited best to describe the differences between patients with increased radiosensitivity and healthy individuals. Patients and methods: in this study, five patients with severe radiation-induced late effects of at least grade 3, classified according to the Radiation Therapy Oncology Group (RTOG), and eleven healthy individuals were examined retrospectively. Peripheral blood lymphocytes were irradiated in vitro with 0.7 Gy and 2.0 Gy prior to cultivation and stained by means of three-color fluorescence in situ hybridization (FISH). The detailed analysis was focused on the number of breaks per metaphase, on breaks from complex chromosomal rearrangements per metaphase, as well as on the percentage of translocations, dicentric chromosomes, breaks, and excess acentric fragments - each in comparison with the total number of mitoses analyzed. Results: using the number of breaks from complex chromosomal rearrangements after 2.0 Gy, radiosensitive patients as endpoint were clearly to be distinguished (p = 0.001) from healthy individuals. Translocations (p = 0.001) as well as breaks per metaphase (p = 0.002) were also suitable indicators for detecting differences between patients and healthy individuals. The parameters ''percentage of dicentric chromosomes'', ''breaks'', and ''excess acentric fragments'' in comparison to the total number of mitoses analyzed could neither serve as meaningful nor as significant criteria, since they showed a strong interindividual variability. Conclusion: to detect a difference in chromosomal aberrations between healthy and radiosensitive individuals, the parameters ''frequency of breaks

  14. Unbalanced der(5)t(5;20) translocation associated with Megalencephaly, perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

    Science.gov (United States)

    Verkerk, Annemieke J.M.H.; Schot, Rachel; van Waterschoot, Laura; Douben, Hannie; Poddighe, Pino J.; Lequin, Maarten H.; de Vries, Linda S.; Terhal, Paulien; Hahnemann, Johanne M.D.; de Coo, Irenaeus F.M.; de Wit, Marie-Claire Y.; Wafelman, Leontien S.; Garavelli, Livia; Dobyns, William B.; Van der Spek, Peter J.; de Klein, Annelies; Mancini, Grazia M.S.

    2010-01-01

    The combination of megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus. We describe the phenotype and the deletion breakpoints of the two MPPH-like patients and compare these with five unrelated MPPH and Sotos patients harboring a 5q35 microdeletion. Mapping of the breakpoints in the two cousins was performed by MLPA, FISH, high density SNP-arrays and Q-PCR for the 5q35 deletion and 20q13 duplication. The 5q35 deletion area of the two cousins almost completely overlaps with earlier described patients with an atypical Sotos microdeletion, except for the DRD1 gene. The five unrelated MPPH patients neither showed submicroscopic chromosomal aberrations nor DRD1 mutations. We reviewed the brain MRI of 10 Sotos patients and did not detect polymicrogyria in any of them. In our two cousins, the MPPH-like phenotype is probably caused by the contribution of genes on both chromosome 5q35 and 20q13. Some patients with MPPH may harbor a submicroscopic chromosomal aberration and therefore high-resolution array analysis should be part of the diagnostic workup. PMID:20503325

  15. Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.

    Science.gov (United States)

    Trippe, Heike; Wieczorek, Stefan; Kötting, Judith; Kress, Wolfram; Schara, Ulrike

    2014-10-01

    Clinically manifesting carriers of Duchenne muscular dystrophy (DMD) are rare among the pediatric population. A standardized diagnostic procedure in supposed DMD carriers entails performing a Multiplex Ligation-dependent Probe Amplification analysis of the DMD gene first, then taking a muscle biopsy to confirm reduced dystrophin levels and/or finally a complete sequencing of the DMD gene. We describe a girl with high-elevated creatine kinase, myalgia, and cardiomyopathy. Muscle biopsy showed a dystrophic pattern and nearly absent expression of dystrophin. Diagnosis could not be confirmed by molecular genetic procedures. Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with breakpoint on the X-chromosome within an intron of the DMD gene. The inactivation of the nonderivative X-chromosome was found to be in a nonrandom pattern, resulting in a functionally balanced karyotype and thus leading to a manifesting DMD carrier in this case. Chromosome analysis should be recommended in cases of genetically unsolved DMD carriers as a part of the standard genetic procedures.

  16. A rare prenatal case with two de novo inversions and a translocation: 48, XX,t(9;12)(q32;p24.3), inv(11)(p15.1q25), inv(13)(q12.q22)

    Energy Technology Data Exchange (ETDEWEB)

    Harrison, B.; Balaban, L.; Eldred, C. [Albany Medical College, Albany, NY (United States)] [and others

    1994-09-01

    Ultrasound examination of a para 1, gravida 2, 26 y.o. showed severe hydrocephalus and polyhydramnios. Amniocentesis was performed at 27 weeks. High resolution chromosome analysis revealed a karyotype with a 9;12 translocation, a pericentric inversion of chromosome 11, and a paracentric inversion of chromosome 13. Parental chromosome studies were normal. The mother was not on medication prior to her pregnancy and there was no known exposure to radiation. Delivery was at 34 weeks gestation. The phenotype consisted of micrognathia, low set ears, hypertelorism, and hydrodcephaly. Review of the literature revealed a single report with multiple de novo aberrations consisting of a 6;14 translocation and a deleted 7. This was diagnosed in the child of a woman with systemic lupus erythematous treated with azathioprine. These types of abnormalities have been known to be induced by chemical and radiation exposure. High resolution banding combined with molecular studies presently improve our ability to detect subtle structural aberrations.

  17. A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

    Directory of Open Access Journals (Sweden)

    İkbal Atli E

    2016-04-01

    Full Text Available Emanuel syndrome (ES is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22 translocation carriers. Carriers of this balanced translocation usually have no clinical symptoms and are often identified after the birth of offspring with an unbalanced form of the translocation, the supernumerary der(22 t(11;22 syndrome. We report a 3-year-old boy with the t(11;22(q23;q11 chromosome, transmitted in an unbalanced fashion from his mother. He has several developmental delays; he is not independently ambulatory and language is significantly impaired. Using his peripheral blood, karyotyping was performed to define his multiple congenital anomalies, revealing the following chromosomal abnormality: 47, XY, +der(22t(11;22(q23.3;q11.2. To ascertain the origin and trait of this supernumerary marker chromosome [der(22t(11;22(q23.3;q11.2], karyotyping of his parents was performed. The mother was found to be a balanced carrier: 46, XX, t(11;22 (q23.3; q11.2.

  18. Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort

    DEFF Research Database (Denmark)

    Christiansen, Marianne; Ekelund, Charlotte K; Petersen, Olav Bjørn;

    2016-01-01

    translocations was shifted towards larger NTs. The distributions for the balanced translocations, the uncommon trisomies and the triploidies more closely resembled that of the normal/no karyotype population. CONCLUSION: Fetuses with aneuploidies have NT distributions visually different from normal fetuses......OBJECTIVE: To describe the distribution of the fetal nuchal translucency thickness (NT) according to type of chromosomal aberration in a large unselected population. METHODS: Data on pregnancies with an NT measurement performed at gestational age 11 + 3 - 13 + 6 weeks from 2008 to 2011 were...

  19. A panel of sequence tagged sites for chromosome band 11q23

    Energy Technology Data Exchange (ETDEWEB)

    Tunnacliffe, A.; Perry, H. (Univ. of Cambridge (United Kingdom)); Radice, P. (Univ. of Cambridge (United Kingdom) Istituto Nazionale Tumori, Milan (Italy)); Budarf, M.L.; Emanuel, B.S. (Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States))

    1993-09-01

    A panel of sequence tagged sites (STSs) representing 30 markers previously assigned to human chromosome band 11q23 has been assembled. Eleven STSs represent cloned genes, and the remainder are from anonymous DNA segments. The STSs have been used in PCR experiments to localize their cognate sequences further with respect to five translocation breakpoints that define three intervals in 11q23. Two of these translocation breakpoints have been mapped more precisely by the STS assignments. The STS panel will form a useful starting point for the generation of a genomic contig of band 11q23. 32 refs., 1 fig., 1 tab.

  20. Novel Bread Wheat Lines Enriched in Carotenoids Carrying Hordeum chilense Chromosome Arms in the ph1b Background

    Science.gov (United States)

    Rey, María-Dolores; Calderón, María-Carmen; Rodrigo, María Jesús; Zacarías, Lorenzo; Alós, Enriqueta; Prieto, Pilar

    2015-01-01

    The use of crop wild relative species to improve major crops performance is well established. Hordeum chilense has a high potential as a genetic donor to increase the carotenoid content of wheat. Crosses between the 7Hch H. chilense substitution lines in wheat and the wheat pairing homoeologous1b (ph1b) mutant allowed the development of wheat-H. chilense translocation lines for both 7Hchα and 7Hchβ chromosome arms in the wheat background. These translocation lines were characterized by in situ hybridization and using molecular markers. In addition, reverse phase chromatography (HPLC) analysis was carried out to evaluate the carotenoid content and both 7Hchα∙7AL and 7AS∙7Hchβ disomic translocation lines. The carotenoid content in 7Hchα∙7AL and 7AS∙7Hchβ disomic translocation lines was higher than the wheat-7Hch addition line and double amount of carotenoids than the wheat itself. A proteomic analysis confirmed that the presence of chromosome 7Hch introgressions in wheat scarcely altered the proteomic profile of the wheat flour. The Psy1 (Phytoene Synthase1) gene, which is the first committed step in the carotenoid biosynthetic pathway, was also cytogenetically mapped on the 7Hchα chromosome arm. These new wheat-H. chilense translocation lines can be used as a powerful tool in wheat breeding programs to enrich the diet in bioactive compounds. PMID:26241856

  1. Novel Bread Wheat Lines Enriched in Carotenoids Carrying Hordeum chilense Chromosome Arms in the ph1b Background.

    Directory of Open Access Journals (Sweden)

    María-Dolores Rey

    Full Text Available The use of crop wild relative species to improve major crops performance is well established. Hordeum chilense has a high potential as a genetic donor to increase the carotenoid content of wheat. Crosses between the 7Hch H. chilense substitution lines in wheat and the wheat pairing homoeologous1b (ph1b mutant allowed the development of wheat-H. chilense translocation lines for both 7Hchα and 7Hchβ chromosome arms in the wheat background. These translocation lines were characterized by in situ hybridization and using molecular markers. In addition, reverse phase chromatography (HPLC analysis was carried out to evaluate the carotenoid content and both 7Hchα∙7AL and 7AS∙7Hchβ disomic translocation lines. The carotenoid content in 7Hchα∙7AL and 7AS∙7Hchβ disomic translocation lines was higher than the wheat-7Hch addition line and double amount of carotenoids than the wheat itself. A proteomic analysis confirmed that the presence of chromosome 7Hch introgressions in wheat scarcely altered the proteomic profile of the wheat flour. The Psy1 (Phytoene Synthase1 gene, which is the first committed step in the carotenoid biosynthetic pathway, was also cytogenetically mapped on the 7Hchα chromosome arm. These new wheat-H. chilense translocation lines can be used as a powerful tool in wheat breeding programs to enrich the diet in bioactive compounds.

  2. Identification of a centromeric exchange of acrocentric chromosomes by fluorescence in situ hybridization

    Energy Technology Data Exchange (ETDEWEB)

    Yu, C.W.; Immken, L.; Curry, C.J.R. [UCSF, Fresno, CA (United States)] [and others

    1994-09-01

    Exchanges of the peri-centromeric area of acrocentric chromosomes are difficult to identify using the conventional cytogenetic techniques. Fluorescence in situ hybridization (FISH) provides a new way for precisely identifying such rearrangements. Here we report a case of centromeric rearrangement in an amniotic fluid specimen with an extra marker chromosome. M.G., a 41-year-old G1, was referred for advanced maternal age. Chromosome studies revealed a 47,XX +mar karyotype. The marker appeared to be bi-satallited with a single C band. Chromosome studies from the parents were normal. The parents elected to terminate the pregnancy. Anatomical examination of the abortus revealed a very short neck, posteriorly rotated ears, high set cecum, absent hepatic lobation and low abdominal kidneys with short ureters. FISH studies with alpha-satellite probes of 13/21, 14/22, and 15, and the DiGeorge probe, indicated that there is a translocation of 21 alpha-satellite to the 22, and that the marker chromosome probably consists of 14/22 alpha-satellite material. FISH analysis of the parents chromosome revealed that father had the translocation of 21 alpha-satellite to the 22 as well. Exchanges of centromeric material among the acrocentric chromosomes may not be an uncommon event in humans. Although it probably has no clinical significance, it may result in non-disjunction or marker chromosome formation from an uncommon satellite association. With the use of FISH techniques, exchanges involving the centromeric regions of acrocentric chromosomes can be identified.

  3. Severe hemophilia A in a female by cryptic translocation: Order and orientation of factor VIII within Xq28

    Energy Technology Data Exchange (ETDEWEB)

    Migeon, B.R.; McGinniss, M.J.; Antonarakis, S.E.; Axelman, J.; Stasiowski, B.A.; Youssoufian, H.; Kearns, W.G.; Chung, A.; Pearson, P.L.; Kazazian, H.H. Jr. (Johns Hopkins Univ., Baltimore, MD (United States)); Muneer, R.S. (Univ. of Oklahoma, Norman (United States))

    1993-04-01

    The authors report studies of a female with severe hemophilia A resulting from a complex de novo translocation of chromosomes X and 17 (46,X,t(X; 17)). Somatic cell hybrids containing the normal X, the der(X), or the der(17) were analyzed for coagulation factor VIII (F8C) sequences using Southern blots and polymerase chain reaction. The normal X, always late replicating, contains a normal F8C gene, whereas the der(X) has no F8C sequences. The der(17) chromosome containing Xq24-Xq28 carries a functional G6PD locus and a deleted F8C allele that lacks exons 1--15. Also, it lacks the DXYS64-X locus, situated between the F8C locus and the Xq telomere. These results indicate that a cryptic breakpoint within Xq28 deleted the 5[prime] end of F8C, but left the more proximal G6PD locus intact on the der(17)chromosome. As the deleted segment includes the 5[prime] half of F8C as well as the subtelomeric DXYS64 locus, F8C must be oriented on the chromosome with its 5[prime] region closest to the telomere. Therefore, the order of these loci is Xcen-G6PD-3[prime]F8C-5[prime]F8C-DXYS64-Xqtel. The analysis of somatic cell hybrids has elucidated the true nature of the F8C mutation in the pro-band, revealing a more complex rearrangement (three chromosomes involved) than that expected from cytogenetic analysis, chromosome painting, and Southern blots. A 900-kb segment within Xq28 has been translocated to another autosome. Hemophilia A in this heterozygous female is due to the decapitation of the F8C gene on the der(17) and inactivation of the intact allele on the normal X. 27 refs., 5 figs., 1 tab.

  4. Hereditary pancreatitis associated with a balanced translocation (5q;11p)

    Energy Technology Data Exchange (ETDEWEB)

    Dasouki, J.J.; Summar, M.L.; Mixon, C. [Vanderbilt Univ. Medical Center and Cytogenetics Lab Inc., Nashville, TN (United States)

    1994-09-01

    Dominantly inherited pancreatitis was first described by Comfort and Steinberg in 1952. It is estimated to account for <1% of all childhood pancreatitis cases. Patients as young as 17 months of age were reported. Presentation varies from acute abdominal pain mimicking familial Mediterranean fever to more chronic steatorrhea causing malabsorption. Urinary excretion of cystine in both affected and unaffected family members is an unexplained feature. Our 37 year old, G{sub 1}P{sub 0{minus}1} proband is known to have familial pancreatitis which complicated her current pregnancy. Family history was also positive in her mother and a sister who has a 12 year old daughter with recurrent abdominal pain. The proband sought genetic counselling because her amniocentesis showed a male fetus with an apparently balanced reciprocal translocation: t(5;11)(q13;p15). A detailed fetal ultrasound examination failed to show any abnormality. On chromosomal analysis, the proband was found to have a similar translocation. Her plasma aminogram was normal, however the spot and 24 hour urine aminograms demonstrated generalized aminoaciduria. This is the first report of hereditary pancreatitis with a segregating balanced autosomal translocation which may be etiologically important. In addition, unlike what was described previously, the aminoaciduria was generalized and nonspecific. Molecular analysis of the genes located in the breakpoint region may prove to be helpful in identifying the responsible gene and the delineation of the pathogenesis of this developmental disorder.

  5. Distinct phenotype in maternal uniparental disomy of chromosome 14

    Energy Technology Data Exchange (ETDEWEB)

    Healey, S.; Chenevix-Trench, G. [Queensland Institute of Medical Research, Brisbane (Australia); McGill, J. [Univ. of Queensland, Brisbane (Australia); Battersby, M.

    1994-06-01

    We report on the occurrence of maternal uniparental disomy for chromosome 14 (mUPD14) in a 4-year-old girl with a de novo Robertsonian translocation, 45,XX,t (13q,14q). The child has arrested hydrocephalus, short stature, minor anomalies, small hands with hyperextensible joints, and mild to moderate developmental delay. Comparison of her phenotype with those of three previously described individuals show some common distinct traits which suggest a mUPD14 syndrome. 5 refs., 3 figs., 2 tabs.

  6. Clinical, cytogenetic and dual-color FISH studies on five cases of myelodysplastic syndrome or acute myeloid leukemia patients with 1;7 translocation

    Institute of Scientific and Technical Information of China (English)

    申咏梅; 薛永权; 李建勇; 潘金兰; 吴亚芳

    2003-01-01

    Objective To study the clinical and cytogenetic characteristics of four patients with myel odysplastic syndrome (MDS) and one with acute myeloid leukemia experiencing t(1; 7).Methods Five patients seen in our hospital from 1992 to 2001 were diagnosed as MDS and acute myelocytic leukemia (AML) according to the French-American-British (FAB) criteria. Chromosomes were prepared using the direct method as well as 24-hou r unstimulated cultures of fresh heparinized bone marrow for each subject, while R-banding was used to analyze karyotypes. Dual-color fluorescence in situ hy bridization (FISH) using SpectrumRed and SpectrumGreen directly labeled chromoso me 1-specific α-satellite DNA probe (red) and chromosome 7- specific α-sat ellite DNA probe (green) was performed for three cases. Results Of the five patients, three had 1;7 translocation due to along history of expos ure to benzene. In three cases, dual-color FISH resulted in three red signals and two green ones, in which one red signal adjoining one green signal in 27.6% , 84% and 18.5% metaphases, respectively. Conclusions Exposure to benzene may be the cause for Chinese MDS and AML patients with t(1;7 ) translocation. The result of dual-color FISH convincingly confirmed that the centromere of the derivative chromosome 7p/1q resulting from 1;7 translocation was made up of centromeres from both chromosomes 1 and 7.

  7. Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

    DEFF Research Database (Denmark)

    Bache, Iben; Hjorth, Mads; Bugge, Merete;

    2006-01-01

    Balanced reciprocal translocations associated with genetic disorders have facilitated the identification of a variety of genes for early-onset monogenic disorders, but only rarely the genes associated with common and complex disorders. To assess the potential of chromosomal breakpoints associated...... with common/ complex disorders, we investigated the full spectrum of diseases in 731 carriers of balanced reciprocal translocations without known early-onset disorders in a nation-wide questionnaire-based re-examination. In 42 families, one of the breakpoints at the cytogenetic level concurred with known...

  8. Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart

    OpenAIRE

    Gill, Harinder K; Parsons, Sian R; Spalluto, Cosma; Davies, Angela F; Knorz, Victoria J.; Burlinson, Clare EG; Ng, Bee Ling; Carter, Nigel P; Ogilvie, Caroline Mackie; David I Wilson; Roland G. Roberts

    2009-01-01

    Hypoplastic left heart (HLH) occurs in at least 1 in 10 000 live births but may be more common in utero. Its causes are poorly understood but a number of affected cases are associated with chromosomal abnormalities. We set out to localize the breakpoints in a patient with sporadic HLH and a de novo translocation. Initial studies showed that the apparently simple 1q41;3q27.1 translocation was actually combined with a 4-Mb inversion, also de novo, of material within 1q41. We therefore localized...

  9. Multicolor-FISH applied to resolve complex chromosomal changes in a case of T-ALL (FAB L2)

    NARCIS (Netherlands)

    Mkrtchyan, H.; Glaser, M.; Gross, M.; Wedding, U.; Hoeffken, K.; Liehr, T.; Aroutiounian, R.

    2006-01-01

    We report on a patient with a clinically diagnosed acute lymphoblastic leukemia (ALL) with partial unrecorded complex translocation events especially involving chromosomes 5,9 and 18. At the GTG-band level the karyotype was abnormal in 20% of the analyzed cells. The complex karyotype was studied in

  10. The rad52-Y66A allele alters the choice of donor template during spontaneous chromosomal recombination

    DEFF Research Database (Denmark)

    de Mayolo, A.A.; Sunjevaric, I.; Reid, R.;

    2010-01-01

    Spontaneous mitotic recombination is a potential source of genetic changes Such as loss of heterozygosity and chromosome translocations, which may lead to genetic disease. In this study we have used a rad52 hyper-recombination mutant, rad52-Y66A, to investigate the process of spontaneous heteroal...

  11. Directed Synthesis of a Segmental Chromosomal Transposition: An Approach to the Study of Chromosomes Lethal to the Gametophyte Generation of Maize

    OpenAIRE

    Birchler, J A; Levin, D. M.

    1991-01-01

    Because of the haploid nature of the gametophyte generation of plants, most mutations that are lethal or detrimental to the gametophytes cannot be recovered. Our laboratory is currently developing several techniques to overcome this situation. In this paper, a procedure is described to generate directed segmental chromosomal transpositions. The method involves recovery of recombinants between reciprocal translocation overlaps such that one region of the genome is inserted into a nonhomologous...

  12. Development of T. aestivum L.-H. californicum alien chromosome lines and assignment of homoeologous groups of Hordeum californicum chromosomes.

    Science.gov (United States)

    Fang, Yuhui; Yuan, Jingya; Wang, Zhangjun; Wang, Haiyan; Xiao, Jin; Yang, Zhixi; Zhang, Ruiqi; Qi, Zengjun; Xu, Weigang; Hu, Lin; Wang, Xiu-E

    2014-08-20

    Hordeum californicum (2n = 2x = 14, HH) is resistant to several wheat diseases and tolerant to lower nitrogen. In this study, a molecular karyotype of H. californicum chromosomes in the Triticum aestivum L. cv. Chinese Spring (CS)-H. californicum amphidiploid (2n = 6x = 56, AABBDDHH) was established. By genomic in situ hybridization (GISH) and multicolor fluorescent in situ hybridization (FISH) using repetitive DNA clones (pTa71, pTa794 and pSc119.2) as probes, the H. californicum chromosomes could be differentiated from each other and from the wheat chromosomes unequivocally. Based on molecular karyotype and marker analyses, 12 wheat-alien chromosome lines, including four disomic addition lines (DAH1, DAH3, DAH5 and DAH6), five telosomic addition lines (MtH7L, MtH1S, MtH1L, DtH6S and DtH6L), one multiple addition line involving H. californicum chromosome H2, one disomic substitution line (DSH4) and one translocation line (TH7S/1BL), were identified from the progenies derived from the crosses of CS-H. californicum amphidiploid with common wheat varieties. A total of 482 EST (expressed sequence tag) or SSR (simple sequence repeat) markers specific for individual H. californicum chromosomes were identified, and 47, 50, 45, 49, 21, 51 and 40 markers were assigned to chromosomes H1, H2, H3, H4, H5, H6 and H7, respectively. According to the chromosome allocation of these markers, chromosomes H2, H3, H4, H5, and H7 of H. californicum have relationship with wheat homoeologous groups 5, 2, 6, 3, and 1, and hence could be designated as 5H(c), 2H(c), 6H(c), 3H(c) and 1H(c), respectively. The chromosomes H1 and H6 were designated as 7H(c) and 4H(c), respectively, by referring to SSR markers located on rye chromosomes.

  13. Characterization of Quantitative Loci for Morphological and Anatomical Root Traits on the Short Arm of Chromosome 1 of Rye in Bread Wheat

    OpenAIRE

    Sharma, Sundrish

    2009-01-01

    Bread wheat (Triticum aestivum L.) is the second most cultivated cereal crop after rice. Many present day bread wheats carry a centric rye-wheat translocation 1RS.1BL in place of chromosome 1B. The increased grain yield of translocation lines is positively associated with root biomass. To map loci controlling root characteristics, homoeologous recombinants of 1RS with 1BS were used to generate an integrated genetic map comprised of 20 phenotypic and molecular markers, with an average spacing ...

  14. Translocation strategies for multiple species depend on interspecific interaction type.

    Science.gov (United States)

    Plein, Michaela; Bode, Michael; Moir, Melinda L; Vesk, Peter A

    2016-06-01

    Conservation translocations, anthropogenic movements of species to prevent their extinction, have increased substantially over the last few decades. Although multiple species are frequently moved to the same location, current translocation guidelines consider species in isolation. This practice ignores important interspecific interactions and thereby risks translocation failure. We model three different two-species systems to illustrate the inherent complexity of multispecies translocations and to assess the influence of different interaction types (consumer-resource, mutualism, and competition) on translocation strategies. We focus on how these different interaction types influence the optimal founder population sizes for successful translocations and the order in which the species are moved (simultaneous or sequential). Further, we assess the effect of interaction strength in simultaneous translocations and the time delay between translocations when moving two species sequentially. Our results show that translocation decisions need to reflect the type of interaction. While all translocations of interacting species require a minimum founder population size, which is demarked by an extinction boundary, consumer-resource translocations also have a maximum founder population limit. Above the minimum founder size, increasing the number of translocated individuals leads to a substantial increase in the extinction boundary of competitors and consumers, but not of mutualists. Competitive and consumer-resource systems benefit from sequential translocations, but the order of translocations does not change the outcomes for mutualistic interaction partners noticeably. Interspecific interactions are important processes that shape population dynamics and should therefore be incorporated into the quantitative planning of multispecies translocations. Our findings apply whenever interacting species are moved, for example, in reintroductions, conservation introductions, biological

  15. Chromosomal and Genetic Analysis of a Human Lung Adenocarcinoma Cell Line OM

    Institute of Scientific and Technical Information of China (English)

    Yong-Wu Li; Lin Bai; Lyu-Xia Dai; Xu He; Xian-Ping Zhou

    2016-01-01

    Background: Lung cancer has become the leading cause of death in many regions.Carcinogenesis is caused by the stepwise accumulation of genetic and chromosomal changes.The aim of this study was to investigate the chromosome and gene alterations in the human lung adenocarcinoma cell line OM.Methods: We used Giemsa banding and multiplex fluorescence in situ hybridization focusing on the human lung adenocarcinoma cell line OM to analyze its chromosome alterations.In addition, the gains and losses in the specific chromosome regions were identified by comparative genomic hybridization (CGH) and the amplifications of cancer-related genes were also detected by polymerase chain reaction (PCR).Results: We identified a large number of chromosomal numerical alterations on all chromosomes except chromosome X and 19.Chromosome 10 is the most frequently involved in translocations with six different interchromosomal translocations.CGH revealed the gains on chromosome regions of 3q25.3-28, 5p13, 12q22-23.24, and the losses on 3p25-26, 6p25, 6q26-27, 7q34-36, 8p22-23, 9p21-24, 10q25-26.3, 12p 13.31-13.33 and 17p 13.1-13.3.And PCR showed the amplification of genes: Membrane metalloendopeptidase (MME), sucrase-isomaltase (SI), butyrylcholinesterase (BCHE), and kininogen (KNG).Conclusions: The lung adenocarcinoma cell line OM exhibited multiple complex karyotypes, and chromosome 10 was frequently involved in chromosomal translocation, which may play key roles in tumorigenesis.We speculated that the oncogenes may be located at 3q25.3-28, 5p13, 12q22-23.24, while tumor suppressor genes may exist in 3p25-26, 6p25, 6q26-27, 7q34-36, 8p22-23, 9p21-24, 10q25-26.3, 12p 13.31-13.33, and 17p 13.1-13.3.Moreover, at least four genes (MME, SI, BCHE, and KNG) may be involved in the human lung adenocarcinoma cell line OM.

  16. Chromosome numbers in Bromeliaceae

    Directory of Open Access Journals (Sweden)

    Cotias-de-Oliveira Ana Lúcia Pires

    2000-01-01

    Full Text Available The present study reports chromosome numbers of 17 species of Bromeliaceae, belonging to the genera Encholirium, Bromelia, Orthophytum, Hohenbergia, Billbergia, Neoglaziovia, Aechmea, Cryptanthus and Ananas. Most species present 2n = 50, however, Bromelia laciniosa, Orthophytum burle-marxii and O. maracasense are polyploids with 2n = 150, 2n = 100 and 2n = 150, respectively, while for Cryptanthus bahianus, 2n = 34 + 1-4B. B chromosomes were observed in Bromelia plumieri and Hohenbergia aff. utriculosa. The chromosome number of all species was determined for the first time, except for Billbergia chlorosticta and Cryptanthus bahianus. Our data supports the hypothesis of a basic number of x = 25 for the Bromeliaceae family and decreasing aneuploidy in the genus Cryptanthus.

  17. Those amazing dinoflagellate chromosomes

    Institute of Scientific and Technical Information of China (English)

    PETER J RIZZO

    2003-01-01

    Dinoflagellates are a very large and diverse group of eukaryotic algae that play a major role in aquatic food webs of both fresh water and marine habitats. Moreover, the toxic members of this group pose a health threat in the form of red tides. Finally, dinoflagellates are of great evolutionary importance,because of their taxonomic position, and their unusual chromosome structure and composition. While the cytoplasm of dinoflagellates is typically eukaryotic, the nucleus is unique when compared to the nucleus of other eukaryotes. More specifically, while the chromosomes of all other eukaryotes contain histones,dinoflagellate chromosomes lack histones completely. There are no known exceptions to this observation: all dinoflagellates lack histones, and all other eukaryotes contain histones. Nevertheless, dinoflagellates remain a relatively unstudied group of eukaryotes.

  18. Fluorescent In Situ Hybridization as a Genetic Technology to Analyzing Chromosomal Organization of Alien Wheat Recombinant Lines

    International Nuclear Information System (INIS)

    Fluorescent in situ hybridization is a valuable method for physical mapping of DNA sequence to chromosomes and genomes and to analyzing their organization, diversity, evolution and function. Using genomic DNA the origin of chromatin in hybrids and alien introgression lines can be identified and followed through breeding programmes. We have applied this technology to study the chromosome composition of new recombinants and genomes derived from spontaneous and induced translocations in particular involving rye and the goat grass Thinoyrum intermedium that transfer disease and stress resistance to wheat. We have established flow diagrammes for easy identification of the alien chromosome material. (author)

  19. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.

    Science.gov (United States)

    Liu, Pengfei; Erez, Ayelet; Nagamani, Sandesh C Sreenath; Dhar, Shweta U; Kołodziejska, Katarzyna E; Dharmadhikari, Avinash V; Cooper, M Lance; Wiszniewska, Joanna; Zhang, Feng; Withers, Marjorie A; Bacino, Carlos A; Campos-Acevedo, Luis Daniel; Delgado, Mauricio R; Freedenberg, Debra; Garnica, Adolfo; Grebe, Theresa A; Hernández-Almaguer, Dolores; Immken, LaDonna; Lalani, Seema R; McLean, Scott D; Northrup, Hope; Scaglia, Fernando; Strathearn, Lane; Trapane, Pamela; Kang, Sung-Hae L; Patel, Ankita; Cheung, Sau Wai; Hastings, P J; Stankiewicz, Paweł; Lupski, James R; Bi, Weimin

    2011-09-16

    Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions have been observed in genomic disorders. Recently, a chromosome catastrophe phenomenon termed chromothripsis, in which numerous genomic rearrangements are apparently acquired in one single catastrophic event, was described in multiple cancers. Here, we show that constitutionally acquired CGRs share similarities with cancer chromothripsis. In the 17 CGR cases investigated, we observed localization and multiple copy number changes including deletions, duplications, and/or triplications, as well as extensive translocations and inversions. Genomic rearrangements involved varied in size and complexities; in one case, array comparative genomic hybridization revealed 18 copy number changes. Breakpoint sequencing identified characteristic features, including small templated insertions at breakpoints and microhomology at breakpoint junctions, which have been attributed to replicative processes. The resemblance between CGR and chromothripsis suggests similar mechanistic underpinnings. Such chromosome catastrophic events appear to reflect basic DNA metabolism operative throughout an organism's life cycle.

  20. Quantized biopolymer translocation through nanopores: departure from simple scaling

    CERN Document Server

    Melchionna, Simone; Fyta, Maria; Kaxiras, Efthimios; Succi, Sauro

    2009-01-01

    We discuss multiscale simulations of long biopolymer translocation through wide nanopores that can accommodate multiple polymer strands. The simulations provide clear evidence of folding quantization, namely, the translocation proceeds through multi-folded configurations characterized by a well-defined integer number of folds. As a consequence, the translocation time acquires a dependence on the average folding number, which results in a deviation from the single-exponent power-law characterizing single-file translocation through narrow pores. The mechanism of folding quantization allows polymers above a threshold length (approximately $1,000$ persistence lengths for double-stranded DNA) to exhibit cooperative behavior and as a result to translocate noticeably faster.

  1. M-BAND Study of Radiation-Induced Chromosome Aberrations in Human Epithelial Cells: Radiation Quality and Dose Rate Effects

    Science.gov (United States)

    Hada, Megumi; Cucinotta, Francis; Wu, Honglu

    2009-01-01

    The advantage of the multicolor banding in situ hybridization (mBAND) technique is its ability to identify both inter- (translocation to unpainted chromosomes) and intra- (inversions and deletions within a single painted chromosome) chromosome aberrations simultaneously. To study the detailed rearrangement of low- and high-LET radiation induced chromosome aberrations in human epithelial cells (CH184B5F5/M10) in vitro, we performed a series of experiments with Cs-137 gamma rays of both low and high dose rates, neutrons of low dose rate and 600 MeV/u Fe ions of high dose rate, with chromosome 3 painted with multi-binding colors. We also compared the chromosome aberrations in both 2- and 3-dimensional cell cultures. Results of these experiments revealed the highest chromosome aberration frequencies after low dose rate neutron exposures. However, detailed analysis of the radiation induced inversions revealed that all three radiation types induced a low incidence of simple inversions. Most of the inversions in gamma-ray irradiated samples were accompanied by other types of intra-chromosomal aberrations but few inversions were accompanied by inter-chromosomal aberrations. In contrast, neutrons and Fe ions induced a significant fraction of inversions that involved complex rearrangements of both inter- and intrachromosomal exchanges. The location of the breaks involved in chromosome exchanges was analyzed along the painted chromosome. The breakpoint distribution was found to be randomly localized on chromosome 3 after neutron or Fe ion exposure, whereas non-random distribution with clustering breakpoints was observed after -ray exposure. Our comparison of chromosome aberration yields between 2- and 3-dimensional cell cultures indicated a significant difference for gamma exposures, but not for Fe ion exposures. These experimental results indicated that the track structure of the radiation and the cellular/chromosome structure can both affect radiation-induced chromosome

  2. Two phase picture in driven polymer translocation

    OpenAIRE

    Saito, Takuya; Sakaue, Takahiro

    2012-01-01

    Two phase picture is a simple and effective methodology to capture the nonequilibrium dynamics of polymer associated with tension propagation. When applying it to the driven translocation process, there is a point to be noted, as briefly discussed in our recent article [Phys. Rev. E 85, 061803 (2012)]. In this article, we address this issue in detail and modify our previous prediction [Euro. Phys. J. E 34, 135 (2011)] by adopting an alternative steady-state ansatz. The modified scaling predic...

  3. Alternative lengthening of telomeres: recurrent cytogenetic aberrations and chromosome stability under extreme telomere dysfunction.

    Science.gov (United States)

    Sakellariou, Despoina; Chiourea, Maria; Raftopoulou, Christina; Gagos, Sarantis

    2013-11-01

    Human tumors using the alternative lengthening of telomeres (ALT) exert high rates of telomere dysfunction. Numerical chromosomal aberrations are very frequent, and structural rearrangements are widely scattered among the genome. This challenging context allows the study of telomere dysfunction-driven chromosomal instability in neoplasia (CIN) in a massive scale. We used molecular cytogenetics to achieve detailed karyotyping in 10 human ALT neoplastic cell lines. We identified 518 clonal recombinant chromosomes affected by 649 structural rearrangements. While all human chromosomes were involved in random or clonal, terminal, or pericentromeric rearrangements and were capable to undergo telomere healing at broken ends, a differential recombinatorial propensity of specific genomic regions was noted. We show that ALT cells undergo epigenetic modifications rendering polycentric chromosomes functionally monocentric, and because of increased terminal recombinogenicity, they generate clonal recombinant chromosomes with interstitial telomeric repeats. Losses of chromosomes 13, X, and 22, gains of 2, 3, 5, and 20, and translocation/deletion events involving several common chromosomal fragile sites (CFSs) were recurrent. Long-term reconstitution of telomerase activity in ALT cells reduced significantly the rates of random ongoing telomeric and pericentromeric CIN. However, the contribution of CFS in overall CIN remained unaffected, suggesting that in ALT cells whole-genome replication stress is not suppressed by telomerase activation. Our results provide novel insights into ALT-driven CIN, unveiling in parallel specific genomic sites that may harbor genes critical for ALT cancerous cell growth. PMID:24339742

  4. Alternative Lengthening of Telomeres: Recurrent Cytogenetic Aberrations and Chromosome Stability under Extreme Telomere Dysfunction

    Directory of Open Access Journals (Sweden)

    Despoina Sakellariou

    2013-11-01

    Full Text Available Human tumors using the alternative lengthening of telomeres (ALT exert high rates of telomere dysfunction. Numerical chromosomal aberrations are very frequent, and structural rearrangements are widely scattered among the genome. This challenging context allows the study of telomere dysfunction-driven chromosomal instability in neoplasia (CIN in a massive scale. We used molecular cytogenetics to achieve detailed karyotyping in 10 human ALT neoplastic cell lines.We identified 518 clonal recombinant chromosomes affected by 649 structural rearrangements. While all human chromosomes were involved in random or clonal, terminal, or pericentromeric rearrangements and were capable to undergo telomere healing at broken ends, a differential recombinatorial propensity of specific genomic regions was noted.We show that ALT cells undergo epigenetic modifications rendering polycentric chromosomes functionally monocentric, and because of increased terminal recombinogenicity, they generate clonal recombinant chromosomes with interstitial telomeric repeats. Losses of chromosomes 13, X, and 22, gains of 2, 3, 5, and 20, and translocation/deletion events involving several common chromosomal fragile sites (CFSs were recurrent. Long-term reconstitution of telomerase activity in ALT cells reduced significantly the rates of random ongoing telomeric and pericentromeric CIN. However, the contribution of CFS in overall CIN remained unaffected, suggesting that in ALT cells whole-genome replication stress is not suppressed by telomerase activation. Our results provide novel insights into ALT-driven CIN, unveiling in parallel specific genomic sites that may harbor genes critical for ALT cancerous cell growth.

  5. Unforced polymer translocation compared to the forced case.

    Science.gov (United States)

    Lehtola, V V; Linna, R P; Kaski, K

    2010-03-01

    We present results for unforced polymer translocation from simulations using Langevin dynamics in two dimensions (2D) to four dimensions and stochastic rotation dynamics supporting hydrodynamic modes in three dimensions (3D). We compare our results to forced translocation and a simplified model where the polymer escapes from an infinite pore. The simple model shows that the scaling behavior of unforced translocation is independent of the dimension of the side to which the polymer is translocating. We find that, unlike its forced counterpart, unforced translocation dynamics is insensitive to pore design. Hydrodynamics is seen to markedly speed up the unforced translocation process but not to affect the scaling relations. Average mean-squared displacement shows scaling with average transition time in unforced but not in forced translocation. The waiting-time distribution in unforced translocation follows closely Poissonian distribution. Our measured transfer probabilities align well with those obtained from an equilibrium theory in 3D, but somewhat worse in 2D, where a polymer's relaxation toward equilibrium with respect to its translocation time is slower. Consequently, in stark contrast to forced translocation, unforced translocation is seen to remain close to equilibrium and shows clear universality. PMID:20365761

  6. Chromosome sites play dual roles to establish homologous synapsisduring meiosis in C. elegans

    Energy Technology Data Exchange (ETDEWEB)

    MacQueen, Amy J.; Phillips, Carolyn M.; Bhalla, Needhi; Weiser,Pinky; Villeneuve, Anne M.; Dernburg, Abby F.

    2005-06-05

    required for accurate segregation of homologous chromosomesduring meiosisin C. elegans. We find that these sites play two distinctroles that contribute to proper segregation. Chromosomes lacking PCsusually fail to synapse and also lack a synapsis-independentstabilization activity. The presence of a PC on justone copy of achromosome pair promotes synapsis but does not supportsynapsis-independent pairing stabilization, indicating that thesefunctions are separable. Once initiated, synapsis is highly processive,even between non homologous chromosomes of disparate lengths, elucidatinghow translocations suppress meiotic recombination in C. elegans. Thesefindings suggest a multistep pathway for chromosome synapsis in which PCsimpart selectivity and efficiency through a kinetic proofreadingmechanism. We speculate that concentration of these activities at oneregion per chromosome may have co-evolved with the loss of a pointcentromere to safeguard karyotype stability.

  7. Stepwise nucleosome translocation by RSC remodeling complexes.

    Science.gov (United States)

    Harada, Bryan T; Hwang, William L; Deindl, Sebastian; Chatterjee, Nilanjana; Bartholomew, Blaine; Zhuang, Xiaowei

    2016-02-19

    The SWI/SNF-family remodelers regulate chromatin structure by coupling the free energy from ATP hydrolysis to the repositioning and restructuring of nucleosomes, but how the ATPase activity of these enzymes drives the motion of DNA across the nucleosome remains unclear. Here, we used single-molecule FRET to monitor the remodeling of mononucleosomes by the yeast SWI/SNF remodeler, RSC. We observed that RSC primarily translocates DNA around the nucleosome without substantial displacement of the H2A-H2B dimer. At the sites where DNA enters and exits the nucleosome, the DNA moves largely along or near its canonical wrapping path. The translocation of DNA occurs in a stepwise manner, and at both sites where DNA enters and exits the nucleosome, the step size distributions exhibit a peak at approximately 1-2 bp. These results suggest that the movement of DNA across the nucleosome is likely coupled directly to DNA translocation by the ATPase at its binding site inside the nucleosome.

  8. Combined Use of Cytogenetic and Molecular Methods in Prenatal Diagnostics of Chromosomal Abnormalities

    Science.gov (United States)

    Stomornjak-Vukadin, Meliha; Kurtovic-Basic, Ilvana; Mehinovic, Lejla; Konjhodzic, Rijad

    2015-01-01

    Aim: The aim of prenatal diagnostics is to provide information of the genetic abnormalities of the fetus early enough for the termination of pregnancy to be possible. Chromosomal abnormalities can be detected in an unborn child through the use of cytogenetic, molecular- cytogenetic and molecular methods. In between them, central spot is still occupied by cytogenetic methods. In cases where use of such methods is not informative enough, one or more molecular cytogenetic methods can be used for further clarification. Combined use of the mentioned methods improves the quality of the final findings in the diagnostics of chromosomal abnormalities, with classical cytogenetic methods still occupying the central spot. Material and methods: Conducted research represent retrospective-prospective study of a four year period, from 2008 through 2011. In the period stated, 1319 karyotyping from amniotic fluid were conducted, along with 146 FISH analysis. Results: Karyotyping had detected 20 numerical and 18 structural aberrations in that period. Most common observed numerical aberration were Down syndrome (75%), Klinefelter syndrome (10%), Edwards syndrome, double Y syndrome and triploidy (5% each). Within observed structural aberrations more common were balanced chromosomal aberrations then non balanced ones. Most common balanced structural aberrations were as follows: reciprocal translocations (60%), Robertson translocations (13.3%), chromosomal inversions, duplications and balanced de novo chromosomal rearrangements (6.6% each). Conclusion: With non- balanced aberrations observed in the samples of amniotic fluid, non- balanced translocations, deletions and derived chromosomes were equally represented. Number of detected aneuploidies with FISH, prior to obtaining results with karyotyping, were 6. PMID:26005269

  9. Chromosomal Rainbows detect Oncogenic Rearrangements of Signaling Molecules in Thyroid Tumors

    Energy Technology Data Exchange (ETDEWEB)

    O' Brien, Benjamin; Jossart, Gregg H.; Ito, Yuko; Greulich-Bode, Karin M.; Weier, Jingly F.; Munne, Santiago; Clark, Orlo H.; Weier, Heinz-Ulrich G.

    2010-08-19

    Altered signal transduction can be considered a hallmark of many solid tumors. In thyroid cancers the receptor tyrosine kinase (rtk) genes NTRK1 (Online Mendelian Inheritance in Man = OMIM *191315, also known as 'TRKA'), RET ('Rearranged during Transfection protooncogene', OMIM *164761) and MET (OMIM *164860) have been reported as activated, rearranged or overexpressed. In many cases, a combination of cytogenetic and molecular techniques allows elucidation of cellular changes that initiate tumor development and progression. While the mechanisms leading to overexpression of the rtk MET gene remain largely unknown, a variety of chromosomal rearrangements of the RET or NTKR1 gene could be demonstrated in thyroid cancer. Abnormal expressions in these tumors seem to follow a similar pattern: the rearrangement translocates the 3'-end of the rtk gene including the entire catalytic domain to an expressed gene leading to a chimeric RNA and protein with kinase activity. Our research was prompted by an increasing number of reports describing translocations involving ret and previously unknown translocation partners. We developed a high resolution technique based on fluorescence in situ hybridization (FISH) to allow rapid screening for cytogenetic rearrangements which complements conventional chromosome banding analysis. Our technique applies simultaneous hybridization of numerous probes labeled with different reporter molecules which are distributed along the target chromosome allowing the detection of cytogenetic changes at near megabase-pair (Mbp) resolution. Here, we report our results using a probe set specific for human chromosome 10, which is altered in a significant portion of human thyroid cancers (TC's). While rendering accurate information about the cytogenetic location of rearranged elements, our multi-locus, multi-color analysis was developed primarily to overcome limitations of whole chromosome painting (WCP) and chromosome banding

  10. Financial costs of large carnivore translocations--accounting for conservation.

    Directory of Open Access Journals (Sweden)

    Florian J Weise

    Full Text Available Human-carnivore conflict continues to present a major conservation challenge around the world. Translocation of large carnivores is widely implemented but remains strongly debated, in part because of a lack of cost transparency. We report detailed translocation costs for three large carnivore species in Namibia and across different translocation scenarios. We consider the effect of various parameters and factors on costs and translocation success. Total translocation cost for 30 individuals in 22 events was $80,681 (US Dollars. Median translocation cost per individual was $2,393, and $2,669 per event. Median cost per cheetah was $2,760 (n = 23, and $2,108 per leopard (n = 6. One hyaena was translocated at a cost of $1,672. Tracking technology was the single biggest cost element (56%, followed by captive holding and feeding. Soft releases, prolonged captivity and orphaned individuals also increased case-specific costs. A substantial proportion (65.4% of the total translocation cost was successfully recovered from public interest groups. Less than half the translocations were confirmed successes (44.4%, 3 unknown with a strong species bias. Four leopards (66.7% were successfully translocated but only eight of the 20 cheetahs (40.0% with known outcome met these strict criteria. None of the five habituated cheetahs was translocated successfully, nor was the hyaena. We introduce the concept of Individual Conservation Cost (ICC and define it as the cost of one successfully translocated individual adjusted by costs of unsuccessful events of the same species. The median ICC for cheetah was $6,898 and $3,140 for leopard. Translocations are costly, but we demonstrate that they are not inherently more expensive than other strategies currently employed in non-lethal carnivore conflict management. We conclude that translocation should be one available option for conserving large carnivores, but needs to be critically evaluated on a case-by-case basis.

  11. Financial costs of large carnivore translocations--accounting for conservation.

    Science.gov (United States)

    Weise, Florian J; Stratford, Ken J; van Vuuren, Rudolf J

    2014-01-01

    Human-carnivore conflict continues to present a major conservation challenge around the world. Translocation of large carnivores is widely implemented but remains strongly debated, in part because of a lack of cost transparency. We report detailed translocation costs for three large carnivore species in Namibia and across different translocation scenarios. We consider the effect of various parameters and factors on costs and translocation success. Total translocation cost for 30 individuals in 22 events was $80,681 (US Dollars). Median translocation cost per individual was $2,393, and $2,669 per event. Median cost per cheetah was $2,760 (n = 23), and $2,108 per leopard (n = 6). One hyaena was translocated at a cost of $1,672. Tracking technology was the single biggest cost element (56%), followed by captive holding and feeding. Soft releases, prolonged captivity and orphaned individuals also increased case-specific costs. A substantial proportion (65.4%) of the total translocation cost was successfully recovered from public interest groups. Less than half the translocations were confirmed successes (44.4%, 3 unknown) with a strong species bias. Four leopards (66.7%) were successfully translocated but only eight of the 20 cheetahs (40.0%) with known outcome met these strict criteria. None of the five habituated cheetahs was translocated successfully, nor was the hyaena. We introduce the concept of Individual Conservation Cost (ICC) and define it as the cost of one successfully translocated individual adjusted by costs of unsuccessful events of the same species. The median ICC for cheetah was $6,898 and $3,140 for leopard. Translocations are costly, but we demonstrate that they are not inherently more expensive than other strategies currently employed in non-lethal carnivore conflict management. We conclude that translocation should be one available option for conserving large carnivores, but needs to be critically evaluated on a case-by-case basis.

  12. Multiple aspects of ATP-dependent nucleosome translocation by RSC and Mi-2 are directed by the underlying DNA sequence.

    Directory of Open Access Journals (Sweden)

    Joke J F A van Vugt

    Full Text Available BACKGROUND: Chromosome structure, DNA metabolic processes and cell type identity can all be affected by changing the positions of nucleosomes along chromosomal DNA, a reaction that is catalysed by SNF2-type ATP-driven chromatin remodelers. Recently it was suggested that in vivo, more than 50% of the nucleosome positions can be predicted simply by DNA sequence, especially within promoter regions. This seemingly contrasts with remodeler induced nucleosome mobility. The ability of remodeling enzymes to mobilise nucleosomes over short DNA distances is well documented. However, the nucleosome translocation processivity along DNA remains elusive. Furthermore, it is unknown what determines the initial direction of movement and how new nucleosome positions are adopted. METHODOLOGY/PRINCIPAL FINDINGS: We have used AFM imaging and high resolution PAGE of mononucleosomes on 600 and 2500 bp DNA molecules to analyze ATP-dependent nucleosome repositioning by native and recombinant SNF2-type enzymes. We report that the underlying DNA sequence can control the initial direction of translocation, translocation distance, as well as the new positions adopted by nucleosomes upon enzymatic mobilization. Within a strong nucleosomal positioning sequence both recombinant Drosophila Mi-2 (CHD-type and native RSC from yeast (SWI/SNF-type repositioned the nucleosome at 10 bp intervals, which are intrinsic to the positioning sequence. Furthermore, RSC-catalyzed nucleosome translocation was noticeably more efficient when beyond the influence of this sequence. Interestingly, under limiting ATP conditions RSC preferred to position the nucleosome with 20 bp intervals within the positioning sequence, suggesting that native RSC preferentially translocates nucleosomes with 15 to 25 bp DNA steps. CONCLUSIONS/SIGNIFICANCE: Nucleosome repositioning thus appears to be influenced by both remodeler intrinsic and DNA sequence specific properties that interplay to define ATPase

  13. The Y Chromosome

    Science.gov (United States)

    Offner, Susan

    2010-01-01

    The Y chromosome is of great interest to students and can be used to teach about many important biological concepts in addition to sex determination. This paper discusses mutation, recombination, mammalian sex determination, sex determination in general, and the evolution of sex determination in mammals. It includes a student activity that…

  14. Chromosomes, cancer and radiosensitivity

    International Nuclear Information System (INIS)

    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available

  15. Chromosomes, cancer and radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Samouhos, E.

    1983-08-01

    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available.

  16. Sequence features contributing to chromosomal rearrangements in Neisseria gonorrhoeae.

    Directory of Open Access Journals (Sweden)

    Russell Spencer-Smith

    Full Text Available Through whole genome sequence alignments, breakpoints in chromosomal synteny can be identified and the sequence features associated with these determined. Alignments of the genome sequences of Neisseria gonorrhoeae strain FA1090, N.gonorrhoeae strain NCCP11945, and N. gonorrhoeae strain TCDC-NG08107 reveal chromosomal rearrangements that have occurred. Based on these alignments and dot plot pair-wise comparisons, the overall chromosomal arrangement of strain NCCP11945 and TCDC-NG08107 are very similar, with no large inversions or translocations. The insertion of the Gonococcal Genetic Island in strain NCCP11945 is the most prominent distinguishing feature differentiating these strains. When strain NCCP11945 is compared to strain FA1090, however, 14 breakpoints in chromosomal synteny are identified between these gonococcal strains. The majority of these, 11 of 14, are associated with a prophage, IS elements, or IS-like repeat enclosed elements which appear to have played a role in the rearrangements observed. Additional rearrangements of small regions of the genome are associated with pilin genes. Evidence presented here suggests that the rearrangements of blocks of sequence are mediated by activation of prophage and associated IS elements and reintegration elsewhere in the genome or by homologous recombination between IS-like elements that have generated inversions.

  17. A familial case of renal cell carcinoma and a t(2;3) chromosome translocation

    NARCIS (Netherlands)

    Koolen, MI; van der Meyden, PM; Bodmer, D; Eleveld, M; van der Looij, E; Brunner, H; Smits, A; Smeets, D; van Kessel, AG

    1998-01-01

    Cytogenetic analysis was performed on peripheral blood lymphocytes of members of a family with inherited renal cell cancer. Four family members in three generations developed multiple/bilateral renal cell carcinomas of the clear cell type. In one additional case a bladder carcinoma was diagnosed. In

  18. Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies

    Energy Technology Data Exchange (ETDEWEB)

    Courtens, W.; Peterson, M.B.; Noeel, J.C.; Flament-Durand, J.; Van Regemorter, N.; Delneste, D.; Cochaux, P.; Verschraegen-Spae, M.R.; Van Roy, N.; Speleman, F. [Brugmann Univ. Hospital, Brussels (Belgium)] [and others

    1994-07-01

    Foetal blood sampling was performed at 35 weeks of gestation due to abnormal foetal ultrasound findings. There was apparent monosomy 21 (45,XX,-21) in all mitoses analyzed. The infant died at 37 weeks during delivery. Examination disclosed facial anomalies, clubfeet, hypoplasia of the left urogenital tract, agenesis of corpus callosum, ventricular dilatation, and heterotopias. Reevaluation of the karyotype showed an unbalanced translocation (1;21) (q44;q22.11) which resulted from a maternal balanced translocation. These findings were confirmed by fluorescence in situ hybridization and molecular studies with chromosome 21 specific markers. The latter showed a proximal deletion of the maternally derived chromosome 21 including all loci from centrometer down to the D21S210 locus. This case illustrates the need for complementary cytogenetic and molecular investigations in cases of apparent monosomy 21. 41 refs., 4 figs., 2 tabs.

  19. Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences

    Science.gov (United States)

    Bacolla, Albino; Tainer, John A.; Vasquez, Karen M.; Cooper, David N.

    2016-01-01

    Gross chromosomal rearrangements (including translocations, deletions, insertions and duplications) are a hallmark of cancer genomes and often create oncogenic fusion genes. An obligate step in the generation of such gross rearrangements is the formation of DNA double-strand breaks (DSBs). Since the genomic distribution of rearrangement breakpoints is non-random, intrinsic cellular factors may predispose certain genomic regions to breakage. Notably, certain DNA sequences with the potential to fold into secondary structures [potential non-B DNA structures (PONDS); e.g. triplexes, quadruplexes, hairpin/cruciforms, Z-DNA and single-stranded looped-out structures with implications in DNA replication and transcription] can stimulate the formation of DNA DSBs. Here, we tested the postulate that these DNA sequences might be found at, or in close proximity to, rearrangement breakpoints. By analyzing the distribution of PONDS-forming sequences within ±500 bases of 19 947 translocation and 46 365 sequence-characterized deletion breakpoints in cancer genomes, we find significant association between PONDS-forming repeats and cancer breakpoints. Specifically, (AT)n, (GAA)n and (GAAA)n constitute the most frequent repeats at translocation breakpoints, whereas A-tracts occur preferentially at deletion breakpoints. Translocation breakpoints near PONDS-forming repeats also recur in different individuals and patient tumor samples. Hence, PONDS-forming sequences represent an intrinsic risk factor for genomic rearrangements in cancer genomes. PMID:27084947

  20. Human interphase chromosomes: a review of available molecular cytogenetic technologies

    Directory of Open Access Journals (Sweden)

    Yurov Yuri B

    2010-01-01

    Full Text Available Abstract Human karyotype is usually studied by classical cytogenetic (banding techniques. To perform it, one has to obtain metaphase chromosomes of mitotic cells. This leads to the impossibility of analyzing all the cell types, to moderate cell scoring, and to the extrapolation of cytogenetic data retrieved from a couple of tens of mitotic cells to the whole organism, suggesting that all the remaining cells possess these genomes. However, this is far from being the case inasmuch as chromosome abnormalities can occur in any cell along ontogeny. Since somatic cells of eukaryotes are more likely to be in interphase, the solution of the problem concerning studying postmitotic cells and larger cell populations is interphase cytogenetics, which has become more or less applicable for specific biomedical tasks due to achievements in molecular cytogenetics (i.e. developments of fluorescence in situ hybridization -- FISH, and multicolor banding -- MCB. Numerous interphase molecular cytogenetic approaches are restricted to studying specific genomic loci (regions being, however, useful for identification of chromosome abnormalities (aneuploidy, polyploidy, deletions, inversions, duplications, translocations. Moreover, these techniques are the unique possibility to establish biological role and patterns of nuclear genome organization at suprachromosomal level in a given cell. Here, it is to note that this issue is incompletely worked out due to technical limitations. Nonetheless, a number of state-of-the-art molecular cytogenetic techniques (i.e multicolor interphase FISH or interpahase chromosome-specific MCB allow visualization of interphase chromosomes in their integrity at molecular resolutions. Thus, regardless numerous difficulties encountered during studying human interphase chromosomes, molecular cytogenetics does provide for high-resolution single-cell analysis of genome organization, structure and behavior at all stages of cell cycle.