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Sample records for goiter locus maps

  1. Bocio Goiter

    Directory of Open Access Journals (Sweden)

    Judith Parlá Sardiñas

    2012-12-01

    Full Text Available Bocio es todo aumento de volumen de la glándula tiroidea. Su patogenia está dada fundamentalmente por una disminución en los niveles circulantes de hormonas tiroideas, con el consiguiente aumento de los niveles de hormona tirotropa que provocan hipertrofia e hiperplasia de las células foliculares y dan lugar al aumento de volumen de la glándula. Se clasifica en bocio simple, nodular y puberal. Según la OMS se clasifica por grados desde el 0 al III, y de acuerdo con la etiología en endémico y esporádico. El diagnóstico se realiza por el interrogatorio, el examen físico y se apoya en estudios complementarios: los niveles de TSH y el ultrasonido. El tratamiento depende de la etiología, la edad y el momento fisiológico de aparición. Consta de 5 pilares: preventivo, conservador o expectante, medicamentoso, quirúrgico y el uso de radioyodo. El seguimiento es clínico, apoyado en la ecografía y estudios de la función tiroidea, durante el primer año cada 6 meses, y que, si no hay modificación, se repiten anualmente.Goiter is any increase of volume of the thyroid gland. The pathogenesis is mainly due to a reduction of the circulating levels of thyroid hormones, with the resulting rise of thyrotropin hormone levels that cause hypertrophy and hyperplasia of the follicular cells and give rise to the increased volume of the gland. It is classified as simple, nodular and pubertal goiter. According to the WHO, the degree-based classification goes from 0 to III, and according to etiology, it may be endemic and sporadic. The diagnosis of goiter is based on the questioning of the patient, the physical exam and supplementary studies as TSH levels and ultrasonography. The treatment depends on the etiology, the age of the patient, and the time of onset and has five pillars: preventive, preservative or expectant, pharmacological, surgical and the use of radioiodine. The clinical follow-up supports on echography and thyroid function studies every

  2. Concept -Mapping, Students' Locus of Control and Gender as ...

    African Journals Online (AJOL)

    Concept -Mapping, Students' Locus of Control and Gender as Determinants of Nigerian High School Students' Achievement in Biology. ... Finally, teachers are enjoined to use the concept - mapping strategy in teaching both the male and female students because this method has been found to be effective in the teaching of ...

  3. Primary Intrathoracic Goiter

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    Ming-Hsun Wu

    2006-01-01

    Full Text Available Nodular goiter is a common disease in Taiwan, and substernal or intrathoracic goiters are not infrequent. However, intrathoracic goiters are mainly of the secondary type and primary intrathoracic goiters are rarely seen. We report a 55-year-old woman who was incidentally found to have an ectopic goiter located in the anterior upper mediastinum with the initial presenting symptom of productive cough. Imaging studies including chest X-ray and computed tomography identified the lesion, and 131I-uptake scan showed weak uptake in the thorax. Surgical removal via thoracotomy was performed and the diagnosis was confirmed by pathology. A primary intrathoracic goiter, although rare, should also be considered in the differential diagnosis of mediastinal tumor.

  4. Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus

    DEFF Research Database (Denmark)

    Meyer, Kerstin B; O'Reilly, Martin; Michailidou, Kyriaki

    2013-01-01

    The 10q26 locus in the second intron of FGFR2 is the locus most strongly associated with estrogen-receptor-positive breast cancer in genome-wide association studies. We conducted fine-scale mapping in case-control studies genotyped with a custom chip (iCOGS), comprising 41 studies (n = 89,050) of...

  5. Fine mapping of the NRG1 Hirschsprung's disease locus.

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    Clara Sze-Man Tang

    Full Text Available The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing gut. RET is a key regulator of the development of the enteric nervous system (ENS and the major HSCR-causing gene. Yet the reduced penetrance of RET DNA HSCR-associated variants together with the phenotypic variability suggest the involvement of additional genes in the disease. Through a genome-wide association study, we uncovered a ∼350 kb HSCR-associated region encompassing part of the neuregulin-1 gene (NRG1. To identify the causal NRG1 variants contributing to HSCR, we genotyped 243 SNPs variants on 343 ethnic Chinese HSCR patients and 359 controls. Genotype analysis coupled with imputation narrowed down the HSCR-associated region to 21 kb, with four of the most associated SNPs (rs10088313, rs10094655, rs4624987, and rs3884552 mapping to the NRG1 promoter. We investigated whether there was correlation between the genotype at the rs10088313 locus and the amount of NRG1 expressed in human gut tissues (40 patients and 21 controls and found differences in expression as a function of genotype. We also found significant differences in NRG1 expression levels between diseased and control individuals bearing the same rs10088313 risk genotype. This indicates that the effects of NRG1 common variants are likely to depend on other alleles or epigenetic factors present in the patients and would account for the variability in the genetic predisposition to HSCR.

  6. Quantitative trait locus (QTL) mapping for 100-kernel weight of ...

    African Journals Online (AJOL)

    hope&shola

    2010-12-06

    Zea mays L.), related to yield. To realize its ... Key words: Maize (Zea mays L.), 100-kernel weight, quantitative trait locus (QTL), recombinant inbred line. (RIL), nitrogen ... cient approach to realize genetic basis of trait, some.

  7. Heterotic trait locus (HTL) mapping identifies intra-locus interactions that underlie reproductive hybrid vigor in Sorghum bicolor.

    Science.gov (United States)

    Ben-Israel, Imri; Kilian, Benjamin; Nida, Habte; Fridman, Eyal

    2012-01-01

    Identifying intra-locus interactions underlying heterotic variation among whole-genome hybrids is a key to understanding mechanisms of heterosis and exploiting it for crop and livestock improvement. In this study, we present the development and first use of the heterotic trait locus (HTL) mapping approach to associate specific intra-locus interactions with an overdominant heterotic mode of inheritance in a diallel population using Sorghum bicolor as the model. This method combines the advantages of ample genetic diversity and the possibility of studying non-additive inheritance. Furthermore, this design enables dissecting the latter to identify specific intra-locus interactions. We identified three HTLs (3.5% of loci tested) with synergistic intra-locus effects on overdominant grain yield heterosis in 2 years of field trials. These loci account for 19.0% of the heterotic variation, including a significant interaction found between two of them. Moreover, analysis of one of these loci (hDPW4.1) in a consecutive F2 population confirmed a significant 21% increase in grain yield of heterozygous vs. homozygous plants in this locus. Notably, two of the three HTLs for grain yield are in synteny with previously reported overdominant quantitative trait loci for grain yield in maize. A mechanism for the reproductive heterosis found in this study is suggested, in which grain yield increase is achieved by releasing the compensatory tradeoffs between biomass and reproductive output, and between seed number and weight. These results highlight the power of analyzing a diverse set of inbreds and their hybrids for unraveling hitherto unknown allelic interactions mediating heterosis.

  8. Heterotic trait locus (HTL mapping identifies intra-locus interactions that underlie reproductive hybrid vigor in Sorghum bicolor.

    Directory of Open Access Journals (Sweden)

    Imri Ben-Israel

    Full Text Available Identifying intra-locus interactions underlying heterotic variation among whole-genome hybrids is a key to understanding mechanisms of heterosis and exploiting it for crop and livestock improvement. In this study, we present the development and first use of the heterotic trait locus (HTL mapping approach to associate specific intra-locus interactions with an overdominant heterotic mode of inheritance in a diallel population using Sorghum bicolor as the model. This method combines the advantages of ample genetic diversity and the possibility of studying non-additive inheritance. Furthermore, this design enables dissecting the latter to identify specific intra-locus interactions. We identified three HTLs (3.5% of loci tested with synergistic intra-locus effects on overdominant grain yield heterosis in 2 years of field trials. These loci account for 19.0% of the heterotic variation, including a significant interaction found between two of them. Moreover, analysis of one of these loci (hDPW4.1 in a consecutive F2 population confirmed a significant 21% increase in grain yield of heterozygous vs. homozygous plants in this locus. Notably, two of the three HTLs for grain yield are in synteny with previously reported overdominant quantitative trait loci for grain yield in maize. A mechanism for the reproductive heterosis found in this study is suggested, in which grain yield increase is achieved by releasing the compensatory tradeoffs between biomass and reproductive output, and between seed number and weight. These results highlight the power of analyzing a diverse set of inbreds and their hybrids for unraveling hitherto unknown allelic interactions mediating heterosis.

  9. Detailed mapping of a resistance locus against Fusarium wilt in cultivated eggplant (Solanum melongena).

    Science.gov (United States)

    Miyatake, Koji; Saito, Takeo; Negoro, Satomi; Yamaguchi, Hirotaka; Nunome, Tsukasa; Ohyama, Akio; Fukuoka, Hiroyuki

    2016-02-01

    This is the first report on genetic mapping of a resistance locus against Fusarium wilt caused by the plant pathogen Fusarium oxysporum f. sp. melongenae in cultivated eggplant. Fusarium wilt, caused by the plant pathogen Fusarium oxysporum f. sp. melongenae, is a major soil-borne disease threatening stable production in eggplant (Solanum melongena). Although three eggplant germplasms, LS1934, LS174, and LS2436, are known to be highly resistant to the pathogen, their resistance loci have not been mapped. In this study, we performed quantitative trait locus analyses in F2:3 populations and detected a resistance locus, FM1, at the end of chromosome 2, with two alleles, Fm1(L) and Fm1(E), in the F2 populations LWF2 [LS1934 × WCGR112-8 (susceptible)] and EWF2 [EPL-1 (derived from LS174) × WCGR112-8], respectively. The percentage of phenotypic variance explained by Fm1(L) derived from LS1934 was 75.0% [Logarithm of the odds (LOD) = 29.3], and that explained by Fm1(E) derived from EPL-1 was 92.2% (LOD = 65.8). Using backcrossed inbred lines, we mapped FM1 between two simple sequence repeat markers located ~4.881 cM apart from each other. Comparing the location of the above locus to those of previously reported ones, the resistance locus Rfo-sa1 from an eggplant ally (Solanum aethiopicum gr. Gilo) was mapped very close to FM1, whereas another resistance locus, from LS2436, was mapped to the middle of chromosome 4. This is the first report of mapping of a Fusarium resistance locus in cultivated eggplant. The availability of resistance-linked markers will enable the application of marker-assisted selection to overcome problems posed by self-incompatibility and introduction of negative traits because of linkage drag, and will lead to clear understanding of genetic mechanism of Fusarium resistance.

  10. Physical map and one-megabase sequencing of the human immunoglobulin lambda locus

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    Geraldo A.S. Passos Jr.

    1998-06-01

    Full Text Available The human immunoglobulin lambda (IGL locus is located on chromosome 22q11.1-q11.2 and contains the genes responsible for the immunoglobulin lambda light chains. This locus was recently mapped (physical map and its 1-Mb DNA totally sequenced. In this review we focus on the characterization of the v-lambda genes, its chromosomal location, genomics and sequencing of the IGL locus.O locus IGL humano está localizado no cromosomo 22q11.1-q11.2 e contém os genes responsáveis pelas cadeias leves de imunoglobulina tipo lambda. Este locus foi recentemente mapeado (mapa físico e seu 1 Mb DNA totalmente sequenciado. Nesta revisão focamos os principais resultados de caracterização dos genes v-lambda, sua localização cromossômica, a genômica e seqüenciamento do locus IGL.

  11. Quantitative trait locus (QTL) mapping for 100-kernel weight of maize

    African Journals Online (AJOL)

    Zea mays L.), related to yield. To realize its genetic basis, in this study, a recombinant inbred line (RIL) population derived from the cross between Mo17 and Huangzao4 was used for quantitative trait locus (QTL) mapping for KW under high and ...

  12. RESEARCH ARTICLE Map the locus of Id for dermal shank melanin ...

    Indian Academy of Sciences (India)

    Navya

    2017-03-24

    Mar 24, 2017 ... Map the locus of Id for dermal shank melanin in a Chinese indigenous chicken breed. JIGUO XU1,2,#, SHUDAI LIN1,2,#, XINFENG GAO1,2,QINGHUA NIE1,2, QINBIN. LUO1,2, XIQUAN ZHANG1,2*. 1College of Animal Science, South China Agricultural University Guangzhou,. Guangdong, China.

  13. An improved procedure of mapping a quantitative trait locus via the ...

    Indian Academy of Sciences (India)

    Mapping a locus controlling a quantitative genetic trait (e.g. blood pressure) to a specific genomic region is of considerable contemporary interest. Data on the quantitative trait under consideration and several codominant genetic markers with known genomic locations are collected from members of families and statistically ...

  14. R/qtlcharts: Interactive Graphics for Quantitative Trait Locus Mapping

    OpenAIRE

    Broman, Karl W.

    2014-01-01

    Every data visualization can be improved with some level of interactivity. Interactive graphics hold particular promise for the exploration of high-dimensional data. R/qtlcharts is an R package to create interactive graphics for experiments to map quantitative trait loci (QTL) (genetic loci that influence quantitative traits). R/qtlcharts serves as a companion to the R/qtl package, providing interactive versions of R/qtl?s static graphs, as well as additional interactive graphs for the explor...

  15. Fast empirical Bayesian LASSO for multiple quantitative trait locus mapping

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    Xu Shizhong

    2011-05-01

    Full Text Available Abstract Background The Bayesian shrinkage technique has been applied to multiple quantitative trait loci (QTLs mapping to estimate the genetic effects of QTLs on quantitative traits from a very large set of possible effects including the main and epistatic effects of QTLs. Although the recently developed empirical Bayes (EB method significantly reduced computation comparing with the fully Bayesian approach, its speed and accuracy are limited by the fact that numerical optimization is required to estimate the variance components in the QTL model. Results We developed a fast empirical Bayesian LASSO (EBLASSO method for multiple QTL mapping. The fact that the EBLASSO can estimate the variance components in a closed form along with other algorithmic techniques render the EBLASSO method more efficient and accurate. Comparing with the EB method, our simulation study demonstrated that the EBLASSO method could substantially improve the computational speed and detect more QTL effects without increasing the false positive rate. Particularly, the EBLASSO algorithm running on a personal computer could easily handle a linear QTL model with more than 100,000 variables in our simulation study. Real data analysis also demonstrated that the EBLASSO method detected more reasonable effects than the EB method. Comparing with the LASSO, our simulation showed that the current version of the EBLASSO implemented in Matlab had similar speed as the LASSO implemented in Fortran, and that the EBLASSO detected the same number of true effects as the LASSO but a much smaller number of false positive effects. Conclusions The EBLASSO method can handle a large number of effects possibly including both the main and epistatic QTL effects, environmental effects and the effects of gene-environment interactions. It will be a very useful tool for multiple QTL mapping.

  16. Fast empirical Bayesian LASSO for multiple quantitative trait locus mapping.

    Science.gov (United States)

    Cai, Xiaodong; Huang, Anhui; Xu, Shizhong

    2011-05-26

    The Bayesian shrinkage technique has been applied to multiple quantitative trait loci (QTLs) mapping to estimate the genetic effects of QTLs on quantitative traits from a very large set of possible effects including the main and epistatic effects of QTLs. Although the recently developed empirical Bayes (EB) method significantly reduced computation comparing with the fully Bayesian approach, its speed and accuracy are limited by the fact that numerical optimization is required to estimate the variance components in the QTL model. We developed a fast empirical Bayesian LASSO (EBLASSO) method for multiple QTL mapping. The fact that the EBLASSO can estimate the variance components in a closed form along with other algorithmic techniques render the EBLASSO method more efficient and accurate. Comparing with the EB method, our simulation study demonstrated that the EBLASSO method could substantially improve the computational speed and detect more QTL effects without increasing the false positive rate. Particularly, the EBLASSO algorithm running on a personal computer could easily handle a linear QTL model with more than 100,000 variables in our simulation study. Real data analysis also demonstrated that the EBLASSO method detected more reasonable effects than the EB method. Comparing with the LASSO, our simulation showed that the current version of the EBLASSO implemented in Matlab had similar speed as the LASSO implemented in Fortran, and that the EBLASSO detected the same number of true effects as the LASSO but a much smaller number of false positive effects. The EBLASSO method can handle a large number of effects possibly including both the main and epistatic QTL effects, environmental effects and the effects of gene-environment interactions. It will be a very useful tool for multiple QTL mapping.

  17. R/qtlcharts: interactive graphics for quantitative trait locus mapping.

    Science.gov (United States)

    Broman, Karl W

    2015-02-01

    Every data visualization can be improved with some level of interactivity. Interactive graphics hold particular promise for the exploration of high-dimensional data. R/qtlcharts is an R package to create interactive graphics for experiments to map quantitative trait loci (QTL) (genetic loci that influence quantitative traits). R/qtlcharts serves as a companion to the R/qtl package, providing interactive versions of R/qtl's static graphs, as well as additional interactive graphs for the exploration of high-dimensional genotype and phenotype data. Copyright © 2015 by the Genetics Society of America.

  18. The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9

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    Sargan David R

    2007-07-01

    Full Text Available Abstract Background Dogs have the second largest number of genetic diseases, after humans. Among the diseases present in dogs, progressive retinal atrophy has been reported in more than a hundred breeds. In some of them, the mutation has been identified and genetic tests have allowed the identification of carriers, thus enabling a drastic reduction in the incidence of the disease. The Finnish lapphund is a dog breed presenting late-onset progressive retinal atrophy for which the disease locus remains unknown. Results In this study we mapped the progressive retinal atrophy locus in the Finnish lapphund using a DNA pooling approach, assuming that all affected dogs within the breed share the same identical-by descent-mutation as the cause of the disease (genetic homogeneity. Autosomal recessive inheritance was also assumed, after ruling out, from pedigree analysis, dominant and X-linked inheritance. DNA from 12 Finnish lapphund cases was mixed in one pool, and DNA from 12 first-degree relatives of these cases was mixed to serve as the control pool. The 2 pools were tested with 133 microsatellite markers, 3 of which showed a shift towards homozygosity in the cases. Individual genotyping with these 3 markers confirmed homozygosity for the GALK1 microsatellite only (chromosome 9. Further individual genotyping with additional samples (4 cases and 59 controls confirmed the association between this marker and the disease locus (p Conclusion The locus for progressive rod-cone degeneration is known to be close to the GALK1 locus, on the telomeric region of chromosome 9, where the retinal atrophy locus of the Finnish lapphund has been mapped. This suggests that the disease in this breed, as well as in the Swedish lapphund, may correspond to progressive rod-cone degeneration. This would increase the number of known dog breeds having this particular form of progressive retinal atrophy.

  19. Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome

    Energy Technology Data Exchange (ETDEWEB)

    Lidsky, A.S.; Law, M.L.; Morse, H.G.; Kao, F.T.; Rabin, M.; Ruddle, F.H.; Woo, S.L.C.

    1985-09-01

    Phenylketonuria (PKU) is an autosomal recessive disorder of amino acid metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase. To define the regional map position of the disease locus and the PAH gene on human chromosome 12, DNA was isolated from human-hamster somatic cell hybrids with various deletions of human chromosome 12 and was analyzed by Southern blot analysis using the human cDNA PAH clone as a hybridization probe. From these results, together with detailed biochemical and cytogenetic characterization of the hybrid cells, the region on chromosome 12 containing the human PAH gene has been defined as 12q14.3..-->..qter. The PAH map position on chromosome 12 was further localized by in situ hybridization of /sup 125/I-labeled human PAH cDNA to chromosomes prepared from a human lymphoblastoid cell line. Results of these experiments demonstrated that the region on chromosome 12 containing the PAH gene and the PKU locus in man is 12q22..-->..12q24.1. These results not only provide a regionalized map position for a major human disease locus but also can serve as a reference point for linkage analysis with other DNA markers on human chromosome 12.

  20. Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome

    International Nuclear Information System (INIS)

    Lidsky, A.S.; Law, M.L.; Morse, H.G.; Kao, F.T.; Rabin, M.; Ruddle, F.H.; Woo, S.L.C.

    1985-01-01

    Phenylketonuria (PKU) is an autosomal recessive disorder of amino acid metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase. To define the regional map position of the disease locus and the PAH gene on human chromosome 12, DNA was isolated from human-hamster somatic cell hybrids with various deletions of human chromosome 12 and was analyzed by Southern blot analysis using the human cDNA PAH clone as a hybridization probe. From these results, together with detailed biochemical and cytogenetic characterization of the hybrid cells, the region on chromosome 12 containing the human PAH gene has been defined as 12q14.3→qter. The PAH map position on chromosome 12 was further localized by in situ hybridization of 125 I-labeled human PAH cDNA to chromosomes prepared from a human lymphoblastoid cell line. Results of these experiments demonstrated that the region on chromosome 12 containing the PAH gene and the PKU locus in man is 12q22→12q24.1. These results not only provide a regionalized map position for a major human disease locus but also can serve as a reference point for linkage analysis with other DNA markers on human chromosome 12

  1. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11. 2-q12

    Energy Technology Data Exchange (ETDEWEB)

    Ramsay, M.; Colman, M.A.; Stevens, G.; Zwane, E.; Kromberg, J.; Jenkins, T. (South African Institute for Medical Research, Johannesburg (South Africa)); Garral, M.

    1992-10-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common type of albinism occurring worldwide. In southern African Bantu-speaking negroids it has an overall prevalence of about 1/3,900. Since the basic biochemical defect is unknown, a linkage study with candidate loci, candidate chromosomal regions, and random loci was undertaken. The ty-pos OCA locus was found to be linked to two arbitrary loci, D15S10 and D15S13, in the Prader-Willi/Angelman chromosomal region on chromosome 15q11.2-q12. The pink-eyed dilute locus, p, on mouse chromosome 7, maps close to a region of homology on human chromosome 15q, and we postulate that the ty-pos OCA and p loci are homologous. 43 refs., 2 figs., 1 tab.

  2. Construction of an integrative regulatory element and variation map of the murine Tst locus.

    Science.gov (United States)

    Beltram, Jasmina; Morton, Nicholas M; Kunej, Tanja; Horvat, Simon

    2016-06-11

    Given the abundance of new genomic projects and gene annotations, researchers trying to pinpoint causal genetic variants are faced with a challenging task of how to efficiently integrate all current genomic information. The objective of the study was to develop an approach to integrate various genomic annotations for a recently positionally-cloned Tst gene (Thiosulfate Sulfur Transferase, synonym Rhodanese) responsible for the Fob3b2 QTL effect on leanness and improved metabolic parameters. The second aim was to identify and prioritize Tst genetic variants that may be causal for the phenotypic effects. A bioinformatics approach was developed to integrate existing knowledge of regulatory elements of the Tst gene. The entire Tst locus along with flanking segments was sequenced between our unique polygenic mouse Fat and Lean strains that were generated by divergent selection on adiposity for over 60 generations. The bioinformatics-generated regulatory element map of the Tst locus was then combined with genetic variants between the Fat and Lean mice and with comparative analyses of polymorphisms across 17 mouse strains in order to prioritise likely causal polymorphisms. Two candidate regulatory variants were identified, one overlapping an evolutionary constrained Tst intronic element and the other residing in the seed region of a predicted 3'UTR miRNA binding site. This study developed a map of regulatory elements for the Tst locus in mice and identified candidate genetic variants with increased causal likelihood. This map provides a basis for experimental validation and functional analyses of this novel candidate leanness and antidiabetic gene. Our methodological approach is of general utility for analyzing regulation of loci that have limited annotations and experimental evidence and for identifying candidate causal regulatory genetic variants in post-GWAS or post-QTL- cloning studies.

  3. Restriction Map Variation at the Adh Locus of Drosophila Melanogaster in Inverted and Noninverted Chromosomes

    OpenAIRE

    Aguade, M.

    1988-01-01

    Restriction map variation among 39 Standard and 40 In(2L)t chromosomes extracted from a Spanish natural population of Drosophila melanogaster was investigated for a 2.7-kb region encompassing the Adh locus with ten four-cutter restriction enzymes. A total of 20 polymorphisms were detected, representing 15 restriction site polymorphisms, 4 length polymorphisms and the allozyme polymorphism. Variation at the DNA level was compared among St-Adh(F), St-Adh(S) and t-Adh(S) chromosomes. t-Adh(S) ch...

  4. Molecular and recombinational mapping of mutations in the Ace locus of Drosophila melanogaster

    International Nuclear Information System (INIS)

    Nagoshi, R.N.; Gelbart, W.M.

    1987-01-01

    The Ace locus in Drosophila melanogaster is known to be the structural gene for acetylcholinesterase. Ace is located in a region of chromosome arm 3R which has been subjected to intensive genetic and molecular analysis. Previous deletion mapping studies have identified a 40-kb region with which the Ace gene resides. This report focuses on the further localization of Ace within this 40-kb interval. Within this region, selective fine structure recombinational analysis was employed to localize three recessive Ace lethals relative to unselected restriction site variations. These three mutations fall into a segment of 7 kb within the Ace interval. Fine structure recombinational analysis was also used to confirm that the Ace - phenotype of one deletion, Df(3R)Ace/sup HD1/, co-segregated with the molecular deletion. This deletion does not fully remove Ace activity, but it behaves as a recessive Ace lethal. Df(3R)Ace/sup HD1/ is the most distal Ace lesion identified and indicates that the Ace locus must extend at least 16 kb. Several poly(A)transcripts are detectable in the region defined by the Ace lesions. The position and extent of the Ace locus, as well as the types of transcripts found, is consistent with the recent findings which identified Torpedo-AChE homologous cDNA sequences in this region

  5. A Locus for Posterior Polymorphous Corneal Dystrophy (PPCD3) Maps to Chromosome 10

    Science.gov (United States)

    Shimizu, Satoko; Krafchak, Charles; Fuse, Nobuo; Epstein, Michael P.; Schteingart, Miriam T.; Sugar, Alan; Eibschitz-Tsimhoni, Maya; Downs, Catherine A.; Rozsa, Frank; Trager, Edward H.; Reed, David M.; Boehnke, Michael; Moroi, Sayoko E.; Richards, Julia E.

    2005-01-01

    Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. We mapped a new locus responsible for PPCD in a family in which we excluded the previously reported PPCD locus on 20q11, and the region containing COL8A2 on chromosome 1. Results of a 317-marker genome scan provided significant evidence of linkage of PPCD to markers on chromosome 10, with single-point LOD scores of 2.63, 1.63, and 3.19 for markers D10S208 (at θ^=0.03), D10S1780 (at θ^=0.00), and D10S578 (at θ^=0.06). A maximum multi-point LOD score of 4.35 was found at marker D10S1780. Affected family members shared a haplotype in an 8.55 cM critical interval that was bounded by markers D10S213 and D10S578. Our finding of another PPCD locus, PPCD3, on chromosome 10 indicates that PPCD is genetically heterogeneous. Guttae, a common corneal finding sometimes observed along with PPCD, were found among both affected and unaffected members of the proband’s sib ship, but were absent in the younger generations of the family. Evaluation of phenotypic differences between family members sharing the same affected haplotype raises questions about whether differences in disease severity, including differences in response to surgical interventions, could be due to genetic background or other factors independent of the PPCD3 locus. PMID:15384081

  6. Fine-mapping a locus for glucose tolerance using heterogeneous stock rats.

    Science.gov (United States)

    Solberg Woods, Leah C; Holl, Katie; Tschannen, Michael; Valdar, William

    2010-03-03

    Heterogeneous stock (HS) animals provide the ability to map quantitative trait loci at high resolution [markers, spaced an average distance of <1 Mb apart, on a 67 Mb region of rat chromosome 1. Using regression modeling of inferred haplotypes based on a hidden Markov model reconstruction and mixed model analysis in which we accounted for the complex family structure of the HS, we identified one sharp peak within this region. Using positional bootstrapping, we determined the most likely location of this locus is from 205.04 to 207.48 Mb. This work demonstrates the utility of HS rats for fine-mapping complex traits and emphasizes the importance of taking into account family structure when using highly recombinant populations.

  7. Harmonic focus in thyroidectomy for substernal goiter

    DEFF Research Database (Denmark)

    Hahn, Christoffer Holst; Trolle, Waldemar; Sørensen, Christian Hjort

    2015-01-01

    OBJECTIVES: No previous prospective study has evaluated harmonic scalpel in thyroidectomy for substernal goiter. The objective of this study was to evaluate the use of harmonic scalpel (FOCUS shear, Ethicon Endo-Surgery) in thyroidectomy for substernal goiter for blood loss, operative time...... time was significantly longer in the harmonic group. CONCLUSION: Harmonic scalpel is a safe tool for thyroidectomy for substernal goiter. Its utilisation is associated with reduced blood loss, lower incidence of postoperative haemorrhage and shorter hospital stay....

  8. The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus

    Directory of Open Access Journals (Sweden)

    Chandok Gurangad

    2010-10-01

    Full Text Available Abstract Background Thoracic aortic aneurysms and dissections (TAAD is a critical condition that often goes undiagnosed with fatal consequences. While majority of the cases are sporadic, more than 20% are inherited as a single gene disorder. The most common familial TAA is Marfan syndrome (MFS, which is primarily caused by mutations in fibrillin-1 (FBN1 gene. Patients with FBN1 mutations are at higher risk for dissection compared to other patients with similar size aneurysms. Methods Fifteen family members were genotyped using Affymetrix-10K genechips. A genome-wide association study was carried out using an autosomal dominant model of inheritance with incomplete penetrance. Mutation screening of all exons and exon-intron boundaries of FBN1 gene which reside near the peak Lod score was carried out by direct sequencing. Results The index case presented with agonizing substernal pain and was found to have TAAD by transthoracic echocardiogram. The family history was significant for 3 first degree relatives with TAA. Nine additional family members were diagnosed with TAA by echocardiography examinations. The affected individuals had no syndromic features. A genome-wide analysis of linkage mapped the disease gene to a single locus on chromosome 15q21 with a peak Lod score of 3.6 at fibrillin-1 (FBN1 gene locus (odds ratio > 4000:1 in favour of linkage, strongly suggesting that FBN1 is the causative gene. No mutation was identified within the exons and exon-intron boundaries of FBN1 gene that segregated with the disease. Haplotype analysis identified additional mutation carriers who had previously unknown status due to borderline dilation of the ascending aorta. Conclusions A familial non-syndromic TAAD is strongly associated with the FBN1 gene locus and has a malignant disease course often seen in MFS patients. This finding indicates the importance of obtaining detailed family history and echocardiographic screening of extended relatives of patients

  9. Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

    DEFF Research Database (Denmark)

    Horne, Hisani N; Chung, Charles C; Zhang, Han

    2016-01-01

    The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking...... rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120......,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry...

  10. Surgery: Is it any good for goiter?

    DEFF Research Database (Denmark)

    Sørensen, Jesper Roed; Watt, Torquil; Døssing, Helle

    Background: Using the thoroughly validated ThyPRO-questionnaire, we aimed at investigating changes in disease-specific quality of life (QoL) following surgical treatment in patients with benign non-toxic nodular goiter. Method: Patients with goiter scheduled for thyroid surgery (n=106) and indivi...

  11. Linkage Map Construction and Quantitative Trait Locus Analysis of Agronomic and Fiber Quality Traits in Cotton

    Directory of Open Access Journals (Sweden)

    Michael A. Gore

    2014-03-01

    Full Text Available The superior fiber properties of L. serve as a source of novel variation for improving fiber quality in Upland cotton ( L., but introgression from has been largely unsuccessful due to hybrid breakdown and a lack of genetic and genomic resources. In an effort to overcome these limitations, we constructed a linkage map and conducted a quantitative trait locus (QTL analysis of 10 agronomic and fiber quality traits in a recombinant inbred mapping population derived from a cross between TM-1, an Upland cotton line, and NM24016, an elite line with stabilized introgression from . The linkage map consisted of 429 simple-sequence repeat (SSR and 412 genotyping-by-sequencing (GBS-based single-nucleotide polymorphism (SNP marker loci that covered half of the tetraploid cotton genome. Notably, the 841 marker loci were unevenly distributed among the 26 chromosomes of tetraploid cotton. The 10 traits evaluated on the TM-1 × NM24016 population in a multienvironment trial were highly heritable, and most of the fiber traits showed considerable transgressive variation. Through the QTL analysis, we identified a total of 28 QTLs associated with the 10 traits. Our study provides a novel resource that can be used by breeders and geneticists for the genetic improvement of agronomic and fiber quality traits in Upland cotton.

  12. Rapid creation of Arabidopsis doubled haploid lines for quantitative trait locus mapping.

    Science.gov (United States)

    Seymour, Danelle K; Filiault, Daniele L; Henry, Isabelle M; Monson-Miller, Jennifer; Ravi, Maruthachalam; Pang, Andy; Comai, Luca; Chan, Simon W L; Maloof, Julin N

    2012-03-13

    Quantitative trait loci (QTL) mapping is a powerful tool for investigating the genetic basis of natural variation. QTL can be mapped using a number of different population designs, but recombinant inbred lines (RILs) are among the most effective. Unfortunately, homozygous RIL populations are time consuming to construct, typically requiring at least six generations of selfing starting from a heterozygous F(1). Haploid plants produced from an F(1) combine the two parental genomes and have only one allele at every locus. Converting these sterile haploids into fertile diploids (termed "doubled haploids," DHs) produces immortal homozygous lines in only two steps. Here we describe a unique technique for rapidly creating recombinant doubled haploid populations in Arabidopsis thaliana: centromere-mediated genome elimination. We generated a population of 238 doubled haploid lines that combine two parental genomes and genotyped them by reduced representation Illumina sequencing. The recombination rate and parental allele frequencies in our population are similar to those found in existing RIL sets. We phenotyped this population for traits related to flowering time and for petiole length and successfully mapped QTL controlling each trait. Our work demonstrates that doubled haploid populations offer a rapid, easy alternative to RILs for Arabidopsis genetic analysis.

  13. Molecular mapping of soybean rust (Phakopsora pachyrhizi) resistance genes: discovery of a novel locus and alleles.

    Science.gov (United States)

    Garcia, Alexandre; Calvo, Eberson Sanches; de Souza Kiihl, Romeu Afonso; Harada, Arlindo; Hiromoto, Dario Minoru; Vieira, Luiz Gonzaga Esteves

    2008-08-01

    Soybean production in South and North America has recently been threatened by the widespread dissemination of soybean rust (SBR) caused by the fungus Phakopsora pachyrhizi. Currently, chemical spray containing fungicides is the only effective method to control the disease. This strategy increases production costs and exposes the environment to higher levels of fungicides. As a first step towards the development of SBR resistant cultivars, we studied the genetic basis of SBR resistance in five F2 populations derived from crossing the Brazilian-adapted susceptible cultivar CD 208 to each of five different plant introductions (PI 200487, PI 200526, PI 230970, PI 459025, PI 471904) carrying SBR-resistant genes (Rpp). Molecular mapping of SBR-resistance genes was performed in three of these PIs (PI 459025, PI 200526, PI 471904), and also in two other PIs (PI 200456 and 224270). The strategy mapped two genes present in PI 230970 and PI 459025, the original sources of Rpp2 and Rpp4, to linkage groups (LG) J and G, respectively. A new SBR resistance locus, rpp5 was mapped in the LG-N. Together, the genetic and molecular analysis suggested multiple alleles or closely linked genes that govern SBR resistance in soybean.

  14. Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4.

    Directory of Open Access Journals (Sweden)

    Harinder Manku

    Full Text Available We previously established an 80 kb haplotype upstream of TNFSF4 as a susceptibility locus in the autoimmune disease SLE. SLE-associated alleles at this locus are associated with inflammatory disorders, including atherosclerosis and ischaemic stroke. In Europeans, the TNFSF4 causal variants have remained elusive due to strong linkage disequilibrium exhibited by alleles spanning the region. Using a trans-ancestral approach to fine-map the locus, utilising 17,900 SLE and control subjects including Amerindian/Hispanics (1348 cases, 717 controls, African-Americans (AA (1529, 2048 and better powered cohorts of Europeans and East Asians, we find strong association of risk alleles in all ethnicities; the AA association replicates in African-American Gullah (152,122. The best evidence of association comes from two adjacent markers: rs2205960-T (P=1.71 × 10(-34 , OR=1.43[1.26-1.60] and rs1234317-T (P=1.16 × 10(-28 , OR=1.38[1.24-1.54]. Inference of fine-scale recombination rates for all populations tested finds the 80 kb risk and non-risk haplotypes in all except African-Americans. In this population the decay of recombination equates to an 11 kb risk haplotype, anchored in the 5' region proximal to TNFSF4 and tagged by rs2205960-T after 1000 Genomes phase 1 (v3 imputation. Conditional regression analyses delineate the 5' risk signal to rs2205960-T and the independent non-risk signal to rs1234314-C. Our case-only and SLE-control cohorts demonstrate robust association of rs2205960-T with autoantibody production. The rs2205960-T is predicted to form part of a decameric motif which binds NF-κBp65 with increased affinity compared to rs2205960-G. ChIP-seq data also indicate NF-κB interaction with the DNA sequence at this position in LCL cells. Our research suggests association of rs2205960-T with SLE across multiple groups and an independent non-risk signal at rs1234314-C. rs2205960-T is associated with autoantibody production and lymphopenia. Our data

  15. Two cases of fetal goiter

    Directory of Open Access Journals (Sweden)

    Ashish Saini

    2012-01-01

    Full Text Available Introduction: Anterior fetal neck masses are rarely encountered. Careful routine ultrasound screening can reveal intrauterine fetal goiters (FGs. The incidence of goitrous hypothyroidism is 1 in 30,000-50,000 live births. The consequences of both FG and impaired thyroid function are serious. Aims and Objectives: To emphasize role of ultrasound in both invasive and non-invasive management of FG. Materials and Methods: Two pregnant patients, during second trimester, underwent routine antenatal ultrasound revealing FG, were investigated and managed. Results: Case 1: Revealed FG with fetal hypothyroidism. Intra-amniotic injection l-thyroxine given. Follow-up ultrasound confirmed the reduction of the goiter size. At birth, thyroid dyshormogenesis was suspected and neonate discharged on 50 mcg levothyroxine/day with normal growth and development so far. Case 2: Hypothyroid mother with twin pregnancy revealed FG, in twin 1, confirmed on magnetic resonance imaging (1.5 × 1.63 cm. The other twin had no thyroid swelling. Cordocentesis confirmed hypothyroidism in twin 1. Maternal thyroxine dose increased as per biochemical parameters leading to reduction in FG size. Mother delivered preterm and none of the twins had thyroid swelling. Fetal euthyroidism was confirmed on biochemical screening. Conclusion: FG during pregnancy should be thoroughly evaluated, diagnosed and immediately treated; although in utero options for fetal hypothyroidism management are available, emphasis should be laid on non-invasive procedures. Newer and better resolution techniques in ultrasonography are more specific and at the same time are less harmful.

  16. Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk

    NARCIS (Netherlands)

    X. Guo (Xingyi); J. Long (Jirong); C. Zeng (Chenjie); K. Michailidou (Kyriaki); M. Ghoussaini (Maya); M.K. Bolla (Manjeet); Q. Wang (Qing); R.L. Milne (Roger L.); X.-O. Shu (Xiao-Ou); Q. Cai (Qiuyin); J. Beesley (Jonathan); S. Kar (Siddhartha); I.L. Andrulis (Irene); H. Anton-Culver (Hoda); V. Arndt (Volker); M.W. Beckmann (Matthias); A. Beeghly-Fadiel (Alicia); J. Benítez (Javier); W.J. Blot (William); N.V. Bogdanova (Natalia); S.E. Bojesen (Stig); H. Brauch (Hiltrud); H. Brenner (Hermann); L.A. Brinton (Louise); A. Broekss (Annegien); T. Brüning (Thomas); B. Burwinkel (Barbara); H. Cai (Hui); S. Canisius (Sander); J. Chang-Claude (Jenny); J.-Y. Choi (J.); F.J. Couch (Fergus); A. Cox (Angela); S.S. Cross (Simon); K. Czene (Kamila); H. Darabi (Hatef); P. Devilee (Peter); A. Droit (Arnaud); T. Dörk (Thilo); P.A. Fasching (Peter); O. Fletcher (Olivia); H. Flyger (Henrik); F. Fostira (Florentia); V. Gaborieau (Valerie); M. García-Closas (Montserrat); G.G. Giles (Graham G.); M. Grip (Mervi); P. Guénel (Pascal); C.A. Haiman (Christopher A.); U. Hamann (Ute); J.M. Hartman (Joost); A. Hollestelle (Antoinette); J.L. Hopper (John L.); C.-N. Hsiung (Chia-Ni); H. Ito (Hidemi); A. Jakubowska (Anna); N. Johnson (Nichola); M. Kabisch (Maria); D. Kang (Daehee); S. Khan (Sofia); J.A. Knight (Julia); V-M. Kosma (Veli-Matti); D. Lambrechts (Diether); L. Le Marchand (Loic); J. Li (Jingmei); A. Lindblom (Annika); A. Lophatananon (Artitaya); J. Lubinski (Jan); A. Mannermaa (Arto); S. Manoukian (Siranoush); S. Margolin (Sara); F. Marme (Federick); K. Matsuo (Keitaro); C.A. McLean (Catriona Ann); A. Meindl (Alfons); K. Muir (Kenneth); S.L. Neuhausen (Susan); H. Nevanlinna (Heli); S. Nord (Silje); J.E. Olson (Janet); N. Orr (Nick); P. Peterlongo (Paolo); T.C. Putti (Thomas Choudary); A. Rudolph (Anja); S. Sangrajrang (Suleeporn); E.J. Sawyer (Elinor); M.K. Schmidt (Marjanka); R.K. Schmutzler (Rita); C-Y. Shen (Chen-Yang); J. Shi (Jiajun); M. Shrubsole (Martha); M.C. Southey (Melissa); A.J. Swerdlow (Anthony ); S.H. Teo (Soo Hwang); B. Thienpont (Bernard); A.E. Toland (Amanda); R.A.E.M. Tollenaar (Rob); I. Tomlinson (Ian); T. Truong (Thérèse); C.-C. Tseng (Chiu-chen); A.M.W. van den Ouweland (Ans); W. Wen (Wanqing); R. Winqvist (Robert); A. Wu (Anna); C.H. Yip (Cheng Har); M.P. Zamora (Pilar); Y. Zheng (Ying); P. Hall (Per); P.D.P. Pharoah (Paul); J. Simard (Jacques); G. Chenevix-Trench (Georgia); A.M. Dunning (Alison); D.F. Easton (Douglas F.); W. Zheng (Wei); R. Eeles (Rosalind); A.A. Al Olama (Ali Amin); Z. Kote-Jarai; S. Benlloch (Sara); A.C. Antoniou (Antonis C.); L. McGuffog (Lesley); K. Offit (Kenneth); A. Lee (Andrew); E. Dicks (Ed); C. Luccarini (Craig); D.C. Tessier (Daniel C.); F. Bacot (Francois); D. Vincent (Daniel); S. La Boissière (Sylvie); F. Robidoux (Frederic); S.F. Nielsen (Sune); J.M. Cunningham (Julie); S.A. Windebank (Sharon A.); C.A. Hilker (Christopher A.); J. Meyer (Jeffrey); M. Angelakos (Maggie); J. Maskiell (Judi); E.J. Rutgers (Emiel J.); S. Verhoef; F.B.L. Hogervorst (Frans); P. Boonyawongviroj (Prat); P. Siriwanarungsan (Pornthep); A. Schrauder (André); M. Rübner (Matthias); S. Oeser (Sonja); S. Landrith (Silke); E. Williams (Eileen); E. Ryder-Mills (Elaine); K. Sargus (Kara); N. McInerney (Niall); G. Colleran (Gabrielle); A. Rowan (Andrew); A. Jones (Angela); C. Sohn (Christof); A. Schneeweiß (Andeas); P. Bugert (Peter); N. Álvarez (Nuria); L. Bernstein (Leslie); J. Lacey (James); S. Wang (Sophia); H. Ma (Huiyan); Y. Lu (Yani); J. Clague De Hart (Jessica); D. Deapen (Dennis); R. Pinder (Rich); E. Lee (Eunjung); F.R. Schumacher (Fredrick); P. Horn-Ross (Pam); P. Reynolds (Peggy); D. Nelson (David); H. Park (Hannah); H. Ziegler (Hartwig); S. Wolf (Sonja); V. Hermann (Volker); W.-Y. Lo (Wing-Yee); C. Justenhoven (Christina); Y.-D. Ko (Yon-Dschun); C. Baisch (Christian); H.-P. Fischer (Hans-Peter); B. Pesch (Beate); S. Rabstein (Sylvia); A. Lotz (Anne); V. Harth (Volker); T. Heikkinen (Tuomas); I. Erkkilä (Irja); K. Aaltonen (Kirsimari); K. von Smitten (Karl); N.N. Antonenkova (Natalia); P. Hillemanns (Peter); H. Christiansen (Hans); E. Myöhänen (Eija); H. Kemiläinen (Helena); H. Thorne (Heather); E. Niedermayr (Eveline); D. Bowtell; G. Chenevix-Trench (Georgia); A. De Fazio (Anna); D. Gertig; A. Green; P. Webb (Penny); A. Green; P. Parsons; N. Hayward; P.M. Webb (P.); D. Whiteman; A. Fung (Annie); J. Yashiki (June); G. Peuteman (Gilian); D. Smeets (Dominiek); T. Van Brussel (Thomas); K. Corthouts (Kathleen); N. Obi (Nadia); J. Heinz (Judith); T.W. Behrens (Timothy); U. Eilber (Ursula); M. Celik (Muhabbet); T. Olchers (Til); B. Peissel (Bernard); G. Scuvera (Giulietta); D. Zaffaroni (Daniela); B. Bonnani (Bernardo); I. Feroce (Irene); A. Maniscalco (Angela); A. Rossi (Alessandra); L. Bernard (Loris); M. Tranchant (Martine); M.-F. Valois (Marie-France); A. Turgeon (Annie); L. Heguy (Lea); P.S. Yee (Phuah Sze); P. Kang (Peter); K.I. Nee (Kang In); S. Mariapun (Shivaani); Y. Sook-Yee (Yoon); D.S.C. Lee (Daphne S.C.); T.Y. Ching (Teh Yew); N.A.M. Taib (Nur Aishah Mohd); M. Otsukka (Meeri); K. Mononen (Kari); T. Selander (Teresa); N. Weerasooriya (Nayana); E.M.M. Krol-Warmerdam (Elly); J. Molenaar; J. Blom; N. Szeszenia-Dabrowska (Neonilia); B. Peplonska (Beata); W. Zatonski (Witold); P. Chao (Pei); M. Stagner (Michael); P. Bos (Petra); J. Blom (Jannet); E. Crepin (Ellen); A. Nieuwlaat (Anja); A. Heemskerk (Annette); S. Higham (Sue); H.E. Cramp (Helen); D. Connley (Daniel); S. Balasubramanian (Sabapathy); I.W. Brock (Ian); M. Kerin (Michael); N. Miller (Nicola); P. Kerbrat (Pierre); P. Arveux (Patrick); R. Le Scodan (Romuald); Y. Raoul (Yves); P. Laurent-Puig (Pierre); C. Mulot (Claire); C. Stegmaier (Christa); K. Butterbach (Katja); J.H. Karstens (Johann); D. Flesch-Janys (Dieter); P. Seibold (Petra); A. Vrieling (Alina); S. Nickels (Stefan); P. Radice (Paolo); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); S. Kauppila (Saila); D. Conroy (Don); C. Baynes (Caroline); K. Chua (Kimberley); R. Pilarski (Robert)

    2015-01-01

    textabstractBackground: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540

  17. Surgery: Is it any good for goiter?

    DEFF Research Database (Denmark)

    Sørensen, Jesper Roed; Watt, Torquil; Døssing, Helle

    Background: Using the thoroughly validated ThyPRO-questionnaire, we aimed at investigating changes in disease-specific quality of life (QoL) following surgical treatment in patients with benign non-toxic nodular goiter. Method: Patients with goiter scheduled for thyroid surgery (n=106...... at baseline. ES of 0.2-0.5 were defined as small, 0.5-0.8 as moderate, and values > 0.8 as large. Results: Before surgery, patients with goiter experienced poorer scores on all scales compared to the general population (pSymptoms...... ((ES: 1.26, pSymptoms (ES: 1.52, p

  18. Genetic and physical maps around the sex-determining M-locus of the dioecious plant asparagus.

    Science.gov (United States)

    Telgmann-Rauber, Alexa; Jamsari, Ari; Kinney, Michael S; Pires, J Chris; Jung, Christian

    2007-09-01

    Asparagus officinalis L. is a dioecious plant. A region called the M-locus located on a pair of homomorphic sex chromosomes controls the sexual dimorphism in asparagus. The aim of this work was to clone the region determining sex in asparagus from its position in the genome. The structure of the region encompassing M should be investigated and compared to the sex-determining regions in other dioecious model species. To establish an improved basis for physical mapping, a high-resolution genetic map was enriched with AFLP markers closely linked to the target locus by carrying out a bulked segregant analysis. By screening a BAC library with AFLP- and STS-markers followed by chromosome walking, a physical map with eight contigs could be established. However, the gaps between the contigs could not be closed due to a plethora of repetitive elements. Surprisingly, two of the contigs on one side of the M-locus did not overlap although they have been established with two markers, which mapped in a distance as low as 0.25 cM flanking the sex locus. Thus, the clustering of the markers indicates a reduced recombination frequency within the M-region. On the opposite side of the M-locus, a contig was mapped in a distance of 0.38 cM. Four closely linked BAC clones were partially sequenced and 64 putative ORFs were identified. Interestingly, only 25% of the ORFs showed sequence similarity to known proteins and ESTs. In addition, an accumulation of repetitive sequences and a low gene density was revealed in the sex-determining region of asparagus. Molecular cytogenetic and sequence analysis of BACs flanking the M-locus indicate that the BACs contain highly repetitive sequences that localize to centromeric and pericentromeric locations on all asparagus chromosomes, which hindered the localization of the M-locus to the single pair of sex chromosomes. We speculate that dioecious Silene, papaya and Asparagus species may represent three stages in the evolution of XX, XY sex

  19. Amyloid Goiter Secondary to Ulcerative Colitis

    Directory of Open Access Journals (Sweden)

    Bunyamin Aydin

    2016-01-01

    Full Text Available Diffuse amyloid goiter (AG is an entity characterized by the deposition of amyloid in the thyroid gland. AG may be associated with either primary or secondary amyloidosis. Secondary amyloidosis is rarely caused by inflammatory bowel diseases. Secondary amyloidosis is relatively more common in the patients with Crohn’s disease, whereas it is highly rare in patients with ulcerative colitis. Diffuse amyloid goiter caused by ulcerative colitis is also a rare condition. In the presence of amyloid in the thyroid gland, medullary thyroid cancer should be kept in mind in the differential diagnosis. Imaging techniques and biochemical tests are not very helpful in the diagnosis of secondary amyloid goiter and the definitive diagnosis is established based on the histopathologic analysis and histochemical staining techniques. In this report, we present a 35-year-old male patient with diffuse amyloid goiter caused by secondary amyloidosis associated with ulcerative colitis.

  20. Fine Mapping of the SCN Resistance Locus rhg1-b from PI 88788

    Directory of Open Access Journals (Sweden)

    Myungsik Kim

    2010-09-01

    Full Text Available Soybean cyst nematode (SCN ( Ichinohe is the most economically damaging soybean [ (L. Merr.] pest in the USA and genetic resistance is a key component for its control. Although SCN resistance is quantitative, the locus on chromosome 18 (formerly known as Linkage Group G confers a high level of resistance. The objective of this study was to fine-map the allele that is derived from plant introduction (PI 88788. F and F plants and F lines from crosses between SCN resistant and susceptible genotypes were tested with genetic markers to identify recombination events close to . Lines developed from these recombinant plants were then tested for resistance to the SCN isolate PA3, which originally had an HG type 0 phenotype, and with genetic markers. Analysis of lines carrying key recombination events positioned between the simple sequence repeat (SSR markers BARCSOYSSR_18_0090 and BARCSOYSSR_18_0094. This places to a 67-kb region of the ‘Williams 82’ genome sequence. The receptor-like kinase gene that has been previously identified as a candidate for the ‘Peking’-derived SCN resistant gene is adjacent to, but outside of, the interval defined in the present study.

  1. Persistence of goiter despite adequate iodine intake

    International Nuclear Information System (INIS)

    Aminzadeh, M.; Karamizadeh, Z.; Amirhakimi, G.H.

    2007-01-01

    To evaluate the state of iodine uptake and frequency of goiter in a previously endemic population after use of iodine salt for ten years. In an area in south of Iran following examination of randomly selected 1504, 8-10 year school children, 102 cases with grade 2 or larger goiter were found. One hundred normal cases regarding thyroid examination were also selected as controls. From all 202 children, random urine specimen was assayed for iodine as an indicator of iodide intake. Frequency of goiter grade 2 or larger was 6.8%. Median levels of urinary iodine in goiterous children and controls were 20.00 micro gram/dL and 24.50 micro gram/dL respectively. Values more than 10 micro g/dL indicate sufficient intake. Frequency of iodine deficiency in patients with goiter was 14.0% vs. 12.7% in control group. There was no statistically significant difference between the two groups (P value=0.748). Iodized salt has been effective to provide acceptable iodide intake but other causes are supposed to be responsible as etiologic factors for persistence of endemic goiter. (author)

  2. Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

    DEFF Research Database (Denmark)

    Guo, Xingyi; Long, Jirong; Zeng, Chenjie

    2015-01-01

    BACKGROUND: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. METHODS: We conducted a fine-mapping analysis in 55,540 breast...... was associated with level of expression of TET2 in breast normal and tumor tissue. CONCLUSION: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. IMPACT: Fine-mapping...... study with large sample size warranted for identification of independent loci for breast cancer risk....

  3. STRUCTURE OF THE NODULAR GOITER IN CHILDREN

    Directory of Open Access Journals (Sweden)

    O. S. Rogova

    2015-01-01

    Full Text Available For today the question of early diagnosis of nosological variants, the method of treatment and prevention of nodular goiter in children is still not fully resolved. There is a few available literature data about study of this problem in children. Objective: to study morphofunctional structure of thyroid nodules in children.The article provides information consisting of the results of a retrospective analysis of case histories of 73 patients, operated with nodular goiter in Z.A. Bashlyaeva Children’sCityClinicalHospital(Moscow from 2003 to May 2015. The examination included an evaluation of the functional status of the pituitary-thyroid system: there were investigated serum thyroxine, triiodothyronine and thyroid stimulating hor-mone, also was performed thyroid scintigraphy 99mТc. In the postoperative period, there was carried out a final verification of the diagnosis according to the results of the histological conclusion. The histologi-cal type of nodal disease was defined by the WHO classification of 2004. It was established that in the structure of a single-node goiter in children prevail nodular colloid goiter with equal frequency in boys and girls, with the same frequency occurs thyroid adenoma, but more often in girls than in boys. The multinodular goiter equally often detected in girls and boys both nodular goiter colloidal with varying degree of proliferation and colloid in combination with follicular thyroid adenoma. "Hot" nodes in the multinodular goiter are more common than in the single-node goiter and more fre-quently in girls than in boys. The half of children with nodular pathology have "hot" nodes and one out of every three – decompensated form of functional autonomy. Decompensated form of functional autonomy of the thyroid gland in children with "hot" nodes detects regardless of the number of nodes. Papillary thyroid cancer occurs not only in patients with a single-node, but with a multinodular goiter. The results allow to

  4. Genetic mapping and haplotype analysis of a locus for quantitative resistance to Fusarium graminearum in soybean accession PI 567516C.

    Science.gov (United States)

    Cheng, Peng; Gedling, Cassidy R; Patil, Gunvant; Vuong, Tri D; Shannon, J Grover; Dorrance, Anne E; Nguyen, Henry T

    2017-05-01

    A major novel quantitative disease resistance locus, qRfg_Gm06, for Fusarium graminearum was genetically mapped to chromosome 6. Genomic-assisted haplotype analysis within this region identified three putative candidate genes. Fusarium graminearum causes seed, root rot, and seedling damping-off in soybean which contributes to reduced stands and yield. A cultivar Magellan and PI 567516C were identified with low and high levels of partial resistance to F. graminearum, respectively. Quantitative disease resistance loci (QDRL) were mapped with 241 F 7:8 recombinant inbred lines (RILs) derived from a cross of Magellan × PI 567516C. Phenotypic evaluation for resistance to F. graminearum used the rolled towel assay in a randomized incomplete block design. The genetic map was constructed from 927 polymorphic single nucleotide polymorphism (SNP) and simple sequence repeat (SSR) markers. One major QDRL qRfg_Gm06 was detected and mapped to chromosome 6 with a LOD score of 20.3 explaining 40.2% of the total phenotypic variation. This QDRL was mapped to a ~400 kb genomic region of the Williams 82 reference genome. Genome mining of this region identified 14 putative candidate disease resistance genes. Haplotype analysis of this locus using whole genome re-sequencing (WGRS) of 106 diverse soybean lines narrowed the list to three genes. A SNP genotyping Kompetitive allele-specific PCR (KASP) assay was designed for one of the genes and was validated in a subset of the RILs and all 106 diverse lines.

  5. Bardet-Biedl syndrome: Mapping of a new locus to chromosome 3 and fine-mapping of the chromosome 16 linked locus

    Energy Technology Data Exchange (ETDEWEB)

    Kwitek-Black, A.E.; Rokhlina, T.; Nishimura, D.Y. [Univ. of Iowa, Iowa City, IA (United States)] [and others

    1994-09-01

    Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by mental retardation, post-axial polydactyly, obesity, retinitis pigmentosa, and hypogonadism. Other features of this disease include renal and cardiovascular abnormalities and an increased incidence of hypertension and diabetes mellitus. The molecular etiology for BBS is not known. We previously linked BBS to chromosome 16q13 in a large inbred Bedouin family, and excluded this locus in a second large inbred Bedouin family. We now report linkage of this second family to markers on chromosome 3q, proving non-allelic, genetic heterogeneity in the Bedouin population. A third large inbred Bedouin family was excluded from the 3q and 16q BBS loci. In addition to the identification of a new BBS locus on chromosome 3, we have identified and utilized additional short tandem repeat polymorphisms (STRPs) in the 16q BBS region to narrow the candidate interval to 3 cM. Additional recombinant individuals will allow further refinement of the interval. Identification of genes causing BBS has the potential to provide insight into diverse genetic traits and disease processes including obesity, hypertension, diabetes, retinal degeneration, and abnormal limb, renal and cardiac development.

  6. Molecular Mapping of PMR1, a Novel Locus Conferring Resistance to Powdery Mildew in Pepper (Capsicum annuum

    Directory of Open Access Journals (Sweden)

    Jinkwan Jo

    2017-12-01

    Full Text Available Powdery mildew, caused by Leveillula taurica, is a major fungal disease affecting greenhouse-grown pepper (Capsicum annuum. Powdery mildew resistance has a complex mode of inheritance. In the present study, we investigated a novel powdery mildew resistance locus, PMR1, using two mapping populations: 102 ‘VK515' F2:3 families (derived from a cross between resistant parental line ‘VK515R' and susceptible parental line ‘VK515S' and 80 ‘PM Singang' F2 plants (derived from the F1 ‘PM Singang' commercial hybrid. Genetic analysis of the F2:3 ‘VK515' and F2 ‘PM Singang' populations revealed a single dominant locus for inheritance of the powdery mildew resistance trait. Genetic mapping showed that the PMR1 locus is located on syntenic regions of pepper chromosome 4 in a 4-Mb region between markers CZ2_11628 and HRM4.1.6 in ‘VK515R'. Six molecular markers including one SCAR marker and five SNP markers were localized to a region 0 cM from the PMR1 locus. Two putative nucleotide-binding site leucine-rich repeat (NBS-LRR-type disease resistance genes were identified in this PMR1 region. Genotyping-by-sequencing (GBS and genetic mapping analysis revealed suppressed recombination in the PMR1 region, perhaps due to alien introgression. In addition, a comparison of species-specific InDel markers as well as GBS-derived SNP markers indicated that C. baccatum represents a possible source of such alien introgression of powdery mildew resistance into ‘VK515R'. The molecular markers developed in this study will be especially helpful for marker-assisted selection in pepper breeding programs for powdery mildew resistance.

  7. High-resolution linkage map in the proximity of the host resistance locus Cmv1

    Energy Technology Data Exchange (ETDEWEB)

    Depatie, C.; Muise, E.; Gros, P. [McGill Univ., Quebec (Canada)] [and others

    1997-01-15

    The mouse chromosome 6 locus Cmv1 controls replication of mouse Cytomegalovirus (MCMV) in the spleen of the infected host. In our effort to clone Cmv1, we have constructed a high-resolution genetic linkage map in the proximity of the gene. For this, a total of 45 DNA markers corresponding to either cloned genes or microsatellites were mapped within a 7.9-cM interval overlapping the Cmv1 region. We have followed the cosegregation of these markers with respect to Cmv1 in a total of 2248 backcross mice from a preexisting interspecific backcross panel of 281 (Mus spretus X C57BL/6J)F1 X C57BL/6J and 2 novel panels of 989 (A/J X C57BL6)F1 X A/J and 978 (BALB/c X C57BL/6J)F1 X BALB/c segregating Cmv1. Combined pedigree analysis allowed us to determine the following gene order and intergene distances (in cM) on the distal region of mouse chromosome 6: D6Mit216-(1.9)-D6Mit336-(2.2)-D6Mit218-(1.0)-D6Mit52-(0.5)-D6Mit194-(0.2)-Nkrp1/D6Mit61/135/257/289/338-(0.4)-Cmv1/Ly49A/D6Mit370-(0.3)-Prp/Kap/D6Mit13/111/219-(0.3)-Tel/D6Mit374/290/220/196/195/110-(1.1)-D6Mit25. Therefore, the minimal genetic interval for Cmv1 of 0.7 cM is defined by 13 tightly linked markers including 2 markers, Ly49A and D6Mit370, that did not show recombination with Cmv1 in 1967 meioses analyzed; the proximal limit of the Cmv1 domain was defined by 8 crossovers between Nkrp1/D6Mit61/135/257/289/338 and Cmv1/Ly49A/D6Mit370, and the distal limit was defined by 5 crossovers between Cmv1/Ly49A/D6Mit370 and Prp/Kap/D6Mit13/111/219. This work demonstrates tight linkage between Cmv1 and genes from the natural killer complex (NKC), such as Nkrp1 and Ly49A suggesting that Cmv1 may represent an NK cell recognition structure encoded in the NKC region. 54 refs., 4 figs., 2 tabs.

  8. High-resolution genetic mapping of the sucrose octaacetate taste aversion (Soa) locus on mouse Chromosome 6

    Science.gov (United States)

    Bachmanov, Alexander A.; Li, Xia; Li, Shanru; Neira, Mauricio; Beauchamp, Gary K.; Azen, Edwin A.

    2013-01-01

    An acetylated sugar, sucrose octaacetate (SOA), tastes bitter to humans and has an aversive taste to at least some mice and other animals. In mice, taste aversion to SOA depends on allelic variation of a single locus, Soa. Three Soa alleles determine ‘taster’ (Soaa), ‘nontaster’ (Soab), and ‘demitaster’ (Soac) phenotypes of taste sensitivity to SOA. Although Soa has been mapped to distal Chromosome (Chr) 6, the limits of the Soa region have not been defined. In this study, mice from congenic strains SW.B6-Soab, B6.SW-Soaa, and C3.SW-Soaa/c and from an outbred CFW strain were genotyped with polymorphic markers on Chr 6. In the congenic strains, the limits of introgressed donor fragments were determined. In the outbred mice, linkage disequilibrium and haplotype analyses were conducted. Positions of the markers were further resolved by using radiation hybrid mapping. The results show that the Soa locus is contained in a ~1-cM (3.3–4.9 Mb) region including the Prp locus. PMID:11641717

  9. Linkage mapping of the locus responsible for forelimb-girdle muscular anomaly of Japanese black cattle on bovine chromosome 26.

    Science.gov (United States)

    Masoudi, A A; Uchida, K; Yokouchi, K; Ohwada, K; Abbasi, A R; Tsuji, T; Watanabe, T; Hirano, T; Sugimoto, Y; Kunieda, T

    2008-02-01

    Forelimb-girdle muscular anomaly is an autosomal recessive disorder of Japanese black cattle characterized by tremor, astasia and abnormal shape of the shoulders. Pathological examination of affected animals reveals hypoplasia of forelimb-girdle muscles with reduced diameter of muscle fibres. To identify the gene responsible for this disorder, we performed linkage mapping of the disorder locus using an inbred pedigree including a great-grand sire, a grand sire, a sire and 26 affected calves obtained from a herd of Japanese black cattle. Two hundred and fifty-eight microsatellite markers distributed across the genome were genotyped across the pedigree. Four markers on the middle region of bovine chromosome 26 showed significant linkage with the disorder locus. Haplotype analysis using additional markers in this region refined the critical region of the disorder locus to a 3.5-Mb interval on BTA26 between BM4505 and MOK2602. Comparative mapping data revealed several potential candidate genes for the disorder, including NRAP, PDZD8 and HSPA12A, which are associated with muscular function.

  10. High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus

    Directory of Open Access Journals (Sweden)

    Bonavita Gina

    2002-08-01

    Full Text Available Abstract Background The Blau syndrome (MIM 186580, an autosomal dominant granulomatous disease, was previously mapped to chromosome 16p12-q21. However, inconsistent physical maps of the region and consequently an unknown order of microsatellite markers, hampered us from further refining the genetic locus for the Blau syndrome. To address this problem, we constructed our own high-resolution physical map for the Blau susceptibility region. Results We generated a high-resolution physical map that provides more than 90% coverage of a refined Blau susceptibility region. The map consists of four contigs of sequence tagged site-based bacterial artificial chromosomes with a total of 124 bacterial artificial chromosomes, and spans approximately 7.5 Mbp; however, three gaps still exist in this map with sizes of 425, 530 and 375 kbp, respectively, estimated from radiation hybrid mapping. Conclusions Our high-resolution map will assist genetic studies of loci in the interval from D16S3080, near D16S409, and D16S408 (16q12.1 to 16q13.

  11. A gene locus responsible for reticulate pigmented anomaly of the flexures maps to chromosome 17p13.3.

    Science.gov (United States)

    Li, Cheng-Rang; Xing, Qing-He; Li, Ming; Qin, Wei; Yue, Xue-Zhuang; Zhang, Xiao-Ju; Ma, Hui-Jun; Wang, Da-Guang; Feng, Guo-Yin; Zhu, Wen-Yuan; He, Lin

    2006-06-01

    Reticulate pigmented anomaly of the flexures (RPAF), also called Dowling-Degos disease, is a rare autosomal-dominant cutaneous disorder characterized by spotted and reticulate pigmentation of the flexures. The gene, or even the chromosomal location, for RPAF has not yet been identified. In this study, one Chinese family with RPAF was identified and subjected to a genomewide screen for linkage analysis. We identified a locus at chromosome 17p13.3 with a maximum two-point limit of detection score of 3.61 at markers D17S831and D17S1866 (at recombination fraction theta=0.00). Haplotype analyses indicated that the disease gene is located within the 6.8 cM region distal to D17S1798. It is the first locus identified for RPAF. This study provides a map location for isolation of a disease gene causing RPAF.

  12. In situ mapping of the hsp70 locus in seven species of the willistoni group of Drosophila

    International Nuclear Information System (INIS)

    Bonorino, C.B.C.; Valente, V.L.S.; Pereira, M.; Alonso, C.E.V.; Abdelhay, E.

    1993-01-01

    The hsp70 locus was mapped by in situ hybridization of a biotinylated probe (p PW 229) to the polythene chromosomes of seven species of the willistoni group of Drosophila. In all of them, the probe hybridized mainly at a single site of the third chromosome, corresponding in each case to a heat-induced puff site. Southern blot analysis comparing the Eco RI digested DNA of the willistoni species with D. melanogaster revealed that a large segment of DNA homologous to the hsp 70 probe detected in D. melanogaster does not exist in the willistoni group. These results suggested that this locus is not duplicated in the willistoni group as it is in the melanogaster. (author)

  13. Nutrition and Goiter Status of Primary School Children in Ibadan ...

    African Journals Online (AJOL)

    It was observed that 42.2% of the school children had palpable goiter, 21.2% were stunted, 15.1% were underweight and 3.7% were wasted. There was no significant gender difference observed for goiter, stunting, wasting and underweight. It was observed that, only goiter and stunting were significantly associated (p<0.05) ...

  14. Iodine Excess is a Risk Factor for Goiter Formation | Washington ...

    African Journals Online (AJOL)

    Iodine Excess is a Risk Factor for Goiter Formation. ... Iodine Excess is a Risk Factor for Goiter Formation. L Washington, T Makumbi, OJ Fualal, M Galukande. Abstract. Background: Goiters have been associated with iodine deficiency. Although universal salt iodization in Uganda achieved a household coverage of 95%

  15. Risk factors for goiter and thyroid nodules

    DEFF Research Database (Denmark)

    Knudsen, N.; Laurberg, P.; Perrild, H.

    2002-01-01

    The occurrence of thyroid diseases is determined by interplay between genetic and environmental factors. The major environmental factor that determines goiter prevalence is iodine status, but other environmental factors influencing entire populations have been identified such as goitrogens in food...... implications for prevention of thyroid disease could be suggested. Discussion of smoking habits should be included in a consultation for goiter with a motivation to quit smoking. Iodine deficiency has particularly strong goitrogenic effects during pregnancy and for the sake of the mother as well as the fetus...

  16. Laser induced fluorescence model of human goiter

    Science.gov (United States)

    Jaliashvili, Z. V.; Medoidze, T. D.; Mardaleishvili, K. M.; Ramsden, J. J.; Melikishvili, Z. G.

    2008-03-01

    Laser induced fluorescence (LIF) with wide area surveillance for resected thyroid tissue solid chunks is presented. The characteristic LIF spectra of goiter were established. The state of tissue at each point represents a superposition of normal and pathology states. To our knowledge two co-existing pathological effects were observed optically for the first time. It is demonstrated that the LIF spectral functions and their intensities well-labeled such areas and represent a good tool for medical diagnostics of goiter and for the definition of the degree of abnormality and geometrical sizes of these areas.

  17. Intervention radiology in postoperative recurrent goiter

    International Nuclear Information System (INIS)

    Galkin, E.V.

    1995-01-01

    Roentgenoendovascular functional thyroidectomy was used to suppress the pathological activity of the thyroid in postoperative recurrent goiter. The method consists in vascular isolation of hyperplastic stump of the thyroid by catheterization of the left and right thyroid arteries, followed by their material occlusion. For embolization, a wide spectrum of nonlyzed synthetic, organic, and inorganic materials were used. The results of roentgenoendovascular functional thyroidectomy in 14 patients with postoperative recurrent goiter are analyzed. The advantages of roentgenoendovascular occlusion of the thyroid arteries before subtotal thyroidectomy are emphasized. A stabile clinical and hormonal remission and reduction of the thyroid in size to stage 1 were observed during three years following roentgenoendovascular intervention [ru

  18. Mapping of the chromosome 1p36 region surrounding the Charcot-Marie-Tooth disease type 2A locus

    Energy Technology Data Exchange (ETDEWEB)

    Denton, P.; Gere, S.; Wolpert, C. [Duke Univ., Durham, NC (United States)] [and others

    1994-09-01

    Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Although CMT2 is clinically indistinguishable from CMT1, the two forms can be differentiated by pathological and neurophysiological methods. We have established one locus, CMT2A on chromosome 1p36, and have established genetic heterogeneity. This locus maps to the region of the deletions associated with neuroblastoma. We have now identified an additional 11 CMT2 families. Three families are linked to chromosome 1p36 while six families are excluded from this region. Another six families are currently under analysis and collection. To date the CMT2A families represent one third of those CMT2 families examined. We have established a microdissection library of the 1p36 region which is currently being characterized for microsatellite repeats and STSs using standard hybridization techniques and a modified degenerate primer method. In addition, new markers (D1S253, D1S450, D1S489, D1S503, GATA27E04, and GATA4H04) placed in this region are being mapped using critical recombinants in the CEPH reference pedigrees. Fluorescent in situ hybridization (FISH) has been used to confirm mapping. A YAC contig is being assembled from the CEPH megabase library using STSs to isolate key YACs which are extended by vectorette end clone and Alu-PCR. These findings suggest that the CMT2 phenotype is secondary to at least two different genes and demonstrates further heterogeneity in the CMT phenotype.

  19. Fine-mapping the human leukocyte antigen locus in rheumatoid arthritis and other rheumatic diseases: identifying causal amino acid variants?

    Science.gov (United States)

    van Heemst, Jurgen; Huizinga, Tom J W; van der Woude, Diane; Toes, René E M

    2015-05-01

    To provide an update on and the context of the recent findings obtained with novel statistical methods on the association of the human leukocyte antigen (HLA) locus with rheumatic diseases. Novel single nucleotide polymorphism fine-mapping data obtained for the HLA locus have indicated the strongest association with amino acid positions 11 and 13 of HLA-DRB1 molecule for several rheumatic diseases. On the basis of these data, a dominant role for position 11/13 in driving the association with these diseases is proposed and the identification of causal variants in the HLA region in relation to disease susceptibility implicated. The HLA class II locus is the most important risk factor for several rheumatic diseases. Recently, new statistical approaches have identified previously unrecognized amino acid positions in the HLA-DR molecule that associate with anticitrullinated protein antibody-negative and anticitrullinated protein antibody-positive rheumatoid arthritis. Likewise, similar findings have been made for other rheumatic conditions such as giant-cell arteritis and systemic lupus erythematosus. Interestingly, all these studies point toward an association with the same amino acid positions: amino acid positions 11 and 13 of the HLA-DR β chain. As both these positions influence peptide binding by HLA-DR and have been implicated in antigen presentation, the novel fine-mapping approach is proposed to map causal variants in the HLA region relevant to rheumatoid arthritis and several rheumatic diseases. If these interpretations are correct, they would direct the biological research aiming to address the explanation for the HLA-disease association. Here, we provide an overview of the recent findings and evidence from literature that, although relevant new insights have been obtained on HLA-disease associations, the interpretation of the biological role of these amino acids as causal variants explaining that such associations should be taken with caution.

  20. Mapping of a Leishmania major gene/locus that confers pentamidine resistance by deletion and insertion of transposable element

    Directory of Open Access Journals (Sweden)

    Coelho Adriano C.

    2004-01-01

    Full Text Available Pentamidine (PEN is an alternative compound to treat antimony-resistant leishmaniasis patients, which cellular target remains unclear. One approach to the identification of prospective targets is to identify genes able to mediate PEN resistance following overexpression. Starting from a genomic library of transfected parasites bearing a multicopy episomal cosmid vector containing wild-type Leishmania major DNA, we isolated one locus capable to render PEN resistance to wild type cells after DNA transfection. In order to map this Leishmania locus, cosmid insert was deleted by two successive sets of partial digestion with restriction enzymes, followed by transfection into wild type cells, overexpression, induction and functional tests in the presence of PEN. To determine the Leishmania gene related to PEN resistance, nucleotide sequencing experiments were done through insertion of the transposon Mariner element of Drosophila melanogaster (mosK into the deleted insert to work as primer island. Using general molecular techniques, we described here this method that permits a quickly identification of a functional gene facilitating nucleotide sequence experiments from large DNA fragments. Followed experiments revealed the presence of a P-Glycoprotein gene in this locus which role in Leishmania metabolism has now been analyzed.

  1. An improved procedure of mapping a quantitative trait locus via the ...

    Indian Academy of Sciences (India)

    this method works well only when the percentage of correct trait locus classification is high and that the performance of the method is quite poor in presence of high degree of dominance in the QT. In this paper, we modify the estimation procedure proposed by Ghosh and Majumder. Keywords. recombination fraction; linkage ...

  2. Fetal goiter and bilateral ovarian cysts

    DEFF Research Database (Denmark)

    Lassen, Pernille; Sundberg, Karin; Juul, Anders

    2008-01-01

    by each injection and followed by a gradual reduction of fetal goiter as well as the left ovarian cyst. The right cyst ruptured spontaneously. At 36 weeks + 4 days, the patient underwent elective caesarean section and gave birth to a female, weighing 2,880 g with 1- and 5-min Apgar scores of 10...

  3. Mediastinal goiter diagnosed by functional imaging

    African Journals Online (AJOL)

    2012-01-19

    Jan 19, 2012 ... side of the upper mediastinum (Fig. 1A). The benignity and the origin of the tissue were still unknown. Therefore, after the CT, we performed a bronchoscopy with biopsy because it was very difficult radiologically to differentiate, for example, lymphoma (relapse) from other mediastinal tumors such as goiter.

  4. Mediastinal goiter diagnosed by functional imaging | Michels ...

    African Journals Online (AJOL)

    In the next step, we initiated radionuclide imaging with technetium-99m pertechnetate (Tc-99m) and radioiodine (I-123). Low uptake of Tc-99m and intense accumulation of I-123 after 2 and 24 h to the mediastinal mass suggested that the mass was a mediastinal goiter. Based on iodine uptake and the fact that our patient ...

  5. Autonomy in the case of enthyreotic goiter

    International Nuclear Information System (INIS)

    Mahlstedt, J.

    1981-01-01

    To identify, quantify, and exclude thyroidal autonomy, under enthyreotic conditions (positive TRH-test), the in-vivo diagnosing with radionuclides is the only method available to assess the thyroidal trap in connection with the suppression test. Its application is urgently necessary for any goiter patient in the iodine lacking region, the methodical proceeding depends on the individual circumstances. (orig.) [de

  6. C-cells in colloid goiter

    Directory of Open Access Journals (Sweden)

    Lima Marcus A.

    2003-01-01

    Full Text Available PURPOSE: The aim of this investigation was to quantitatively evaluate C-cells in colloid goiters, analyzing 36 thyroids that were obtained through thyroidectomy from 24 patients with goiter and 12 normal glands from adult patients without thyroid disease, which were used as the control group. MATERIAL AND METHODS: On average, 6 different thyroid areas were sampled and labeled by immunohistochemistry with a monoclonal anticalcitonin antibody, utilizing the avidin-biotin-peroxidase complex. C-cells were counted in fields measuring 1 square centimeter, and the mean number of cells per field was then calculated. Data were statistically analyzed using the Mann-Whitney test. RESULTS: In the colloid goiter group, the number of C-cells ranged from 0 to 23 per field, while in normal controls they ranged from 20 to 148 per field. CONCLUSIONS: These results demonstrate a significant decrease of C-cell number in the colloid goiter group compared with control group, indicating that the hyperplastic process is restricted to follicular cells, to the detriment of C-cells, which probably cease to receive trophic stimuli.

  7. Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus

    Energy Technology Data Exchange (ETDEWEB)

    Haraguchi, Y.; Chung, A.B.; Torroni, A.; Stepien, G.; Shoffner, J.M.; Costigan, D.A.; Polak, M. [Emory Univ. School of Medicine, Atlanta, GA (United States); Wasmuth, J.J.; Altherr, M.R.; Winokur, S.T. [Univ. of California, Irvine, CA (United States)] [and others

    1993-05-01

    The mitochondrial heart-skeletal muscle adenine nucleotide translocator (ANT1) was regionally mapped to 4q35-qter using somatic cell hybrids containing deleted chromosome 4. The regional location was further refined through family studies using ANT1 intron and promoter nucleotide polymorphisms recognized by the restriction endonucleases MboII, NdeI, and HaeIII. Two alleles were found, each at a frequency of 0.5. The ANT1 locus was found to be closely linked to D4S139, D4S171, and the dominant skeletal muscle disease locus facioscapulohumeral muscular dystrophy (FSHD). A crossover that separated D4S171 and ANT1 from D4S139 was found. Since previous studies have established the chromosome 4 map order as centromere-D4S171-D4S139-FSHD, it was concluded that ANT1 is located on the side of D4S139, that is opposite from FSHD. This conclusion was confirmed by sequencing the exons and analyzing the transcripts of ANT1 from several FSHD patients and finding no evidence of aberration. 35 refs., 5 figs., 1 tab.

  8. High-resolution linkage map of mouse chromosome 13 in the vicinity of the host resistance locus Lgn1

    Energy Technology Data Exchange (ETDEWEB)

    Beckers, M.C.; Ernst, E.; Diez, E. [McGill Univ., Quebec (Canada)] [and others

    1997-02-01

    Natural resistance of inbred mouse strains to infection with Legionella pneumophila is controlled by the expression of a single dominant gene on chromosome 13, designated Lgn1. The genetic difference at Lgn1 is phenotypically expressed as the presence or absence of intracellular replication of L. pneumophila in host macrophages. In our effort to identify the Lgn1 gene by positional cloning, we have generated a high-resolution linkage map of the Lgn1 chromosomal region. For this, we have carried out extensive segregation analysis in a total of 1270 (A/J x C57BL/6J) X A/J informative backcross mice segregating the resistance allele of C57BL/6J and the susceptibility allele of A/J. Additional segregation analyses were carried out in three preexisting panels of C57BL/6J X Mus spretus interspecific backcross mice. A total of 39 DNA markers were mapped within an interval of approximately 30 cM overlapping the Lgn1 region. Combined pedigree analyses for the 5.4-cM segment overlapping Lgn1 indicated the locus order and the interlocus distances (in cM): D13Mit128-(1.4)-D13Mit194-(0.1)-D13Mit147-(0.9)-Dl3Mit36-(0.9)-D13Mit146-(0.2)-Lgn1/D 13Mit37-(1.0)-D13Mit70. Additional genetic linkage studies of markers not informative in the A/J X C57BL/6J cross positioned D13Mit30, -72, -195, and -203, D13Gor4, D13Hun35, and Mtap5 in the immediate vicinity of the Lgn1 locus. The marker density and resolution of this genetic linkage map should allow the construction of a physical map of the region and the isolation of YAC clones overlapping the gene. 60 refs., 2 figs., 2 tabs.

  9. An improved procedure of mapping a quantitative trait locus via the ...

    Indian Academy of Sciences (India)

    orders (e.g. hypertension, diabetes) are inherently quantita- tive in nature. Therefore, QTL mapping is of considerable interest in human genetics. Many currently used QTL mapping methods, especially those that have been devel- oped in the context of plant genetics or genetics of inbred animals, assume knowledge of ...

  10. An integrated physical, genetic and cytogenetic map around the sunn locus of Medicago truncatula

    NARCIS (Netherlands)

    Schnabel, E.; Kulikova, O.; Penmetsa, R.V.; Bisseling, T.; Cook, D.R.; Frugoli, J.

    2003-01-01

    The sunn mutation of Medicago truncatula is a single-gene mutation that confers a novel supernodulation phenotype in response to inoculation with Sinorhizobium meliloti. We took advantage of the publicly available codominant PCR markers, the high-density genetic map, and a linked cytogenetic map to

  11. Charactering the ZFAND3 gene mapped in the sex-determining locus in hybrid tilapia (Oreochromis spp.)

    Science.gov (United States)

    Ma, Keyi; Liao, Minghui; Liu, Feng; Ye, Baoqing; Sun, Fei; Yue, Gen Hua

    2016-01-01

    Zinc finger AN1-type domain 3 (ZFAND3) is essential for spermatogenesis in mice. However, its function in teleosts remains unclear. In this study, we characterized the ZFAND3 gene (termed as OsZFAND3) in an important food fish, tilapia. The OsZFAND3 cDNA sequence is 1,050 bp in length, containing an ORF of 615 bp, which encodes a putative peptide of 204 amino acid residues. Quantitative real-time PCR revealed that the OsZFAND3 transcripts were exclusively expressed in the testis and ovary. In situ hybridization showed that the high expression of OsZFAND3 transcripts was predominantly localized in the spermatocyte and spermatid. These results suggest that OsZFAND3 is involved in male germ cell maturation. Three single nucleotide polymorphisms (SNPs) were detected in the introns of OsZFAND3. The OsZFAND3 gene was mapped in the sex-determining locus on linkage group 1 (LG1). The three SNPs in the OsZFAND3 gene were strictly associated with sex phenotype, suggesting that the OsZFAND3 gene is tightly linked to the sex-determining locus. Our study provides new insights into the functions of the OsZFAND3 gene in tilapia and a foundation for further detailed analysis of the OsZFAND3 gene in sex determination and differentiation. PMID:27137111

  12. Quantitative trait locus mapping in mice identifies phospholipase Pla2g12a as novel atherosclerosis modifier.

    Science.gov (United States)

    Nicolaou, Alexandros; Northoff, Bernd H; Sass, Kristina; Ernst, Jana; Kohlmaier, Alexander; Krohn, Knut; Wolfrum, Christian; Teupser, Daniel; Holdt, Lesca M

    2017-10-01

    In a previous work, a female-specific atherosclerosis risk locus on chromosome (Chr) 3 was identified in an intercross of atherosclerosis-resistant FVB and atherosclerosis-susceptible C57BL/6 (B6) mice on the LDL-receptor deficient (Ldlr -/- ) background. It was the aim of the current study to identify causative genes at this locus. We established a congenic mouse model, where FVB.Chr3 B6/B6 mice carried an 80 Mb interval of distal Chr3 on an otherwise FVB.Ldlr -/- background, to validate the Chr3 locus. Candidate genes were identified using genome-wide expression analyses. Differentially expressed genes were validated using quantitative PCRs in F0 and F2 mice and their functions were investigated in pathophysiologically relevant cells. Fine-mapping of the Chr3 locus revealed two overlapping, yet independent subloci for female atherosclerosis susceptibility: when transmitted by grandfathers to granddaughters, the B6 risk allele increased atherosclerosis and downregulated the expression of the secreted phospholipase Pla2g12a (2.6 and 2.2 fold, respectively); when inherited by grandmothers, the B6 risk allele induced vascular cell adhesion molecule 1 (Vcam1). Down-regulation of Pla2g12a and up-regulation of Vcam1 were validated in female FVB.Chr3 B6/B6 congenic mice, which developed 2.5 greater atherosclerotic lesions compared to littermate controls (p=0.039). Pla2g12a was highly expressed in aortic endothelial cells in vivo, and knocking-down Pla2g12a expression by RNAi in cultured vascular endothelial cells or macrophages increased their adhesion to ECs in vitro. Our data establish Pla2g12a as an atheroprotective candidate gene in mice, where high expression levels in ECs and macrophages may limit the recruitment and accumulation of these cells in nascent atherosclerotic lesions. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Fine mapping of the pond snail left-right asymmetry (chirality) locus using RAD-Seq and fibre-FISH.

    Science.gov (United States)

    Liu, Mengning Maureen; Davey, John W; Banerjee, Ruby; Han, Jie; Yang, Fengtang; Aboobaker, Aziz; Blaxter, Mark L; Davison, Angus

    2013-01-01

    The left-right asymmetry of snails, including the direction of shell coiling, is determined by the delayed effect of a maternal gene on the chiral twist that takes place during early embryonic cell divisions. Yet, despite being a well-established classical problem, the identity of the gene and the means by which left-right asymmetry is established in snails remain unknown. We here demonstrate the power of new genomic approaches for identification of the chirality gene, "D". First, heterozygous (Dd) pond snails Lymnaea stagnalis were self-fertilised or backcrossed, and the genotype of more than six thousand offspring inferred, either dextral (DD/Dd) or sinistral (dd). Then, twenty of the offspring were used for Restriction-site-Associated DNA Sequencing (RAD-Seq) to identify anonymous molecular markers that are linked to the chirality locus. A local genetic map was constructed by genotyping three flanking markers in over three thousand snails. The three markers lie either side of the chirality locus, with one very tightly linked (hybridization (FISH) of pachytene cells showed that the three BACs tightly cluster on the same bivalent chromosome. Fibre-FISH identified a region of greater that ∼0.4 Mb between two BAC clone markers that must contain D. This work therefore establishes the resources for molecular identification of the chirality gene and the variation that underpins sinistral and dextral coiling. More generally, the results also show that combining genomic technologies, such as RAD-Seq and high resolution FISH, is a robust approach for mapping key loci in non-model systems.

  14. Rapid creation of Arabidopsis doubled haploid lines for quantitative trait locus mapping

    OpenAIRE

    Seymour, Danelle K.; Filiault, Daniele L.; Henry, Isabelle M.; Monson-Miller, Jennifer; Ravi, Maruthachalam; Pang, Andy; Comai, Luca; Chan, Simon W. L.; Maloof, Julin N.

    2012-01-01

    Quantitative trait loci (QTL) mapping is a powerful tool for investigating the genetic basis of natural variation. QTL can be mapped using a number of different population designs, but recombinant inbred lines (RILs) are among the most effective. Unfortunately, homozygous RIL populations are time consuming to construct, typically requiring at least six generations of selfing starting from a heterozygous F1. Haploid plants produced from an F1 combine the two parental genomes and have only one ...

  15. The Drosophila rolled locus encodes a MAP kinase required in the sevenless signal transduction pathway.

    OpenAIRE

    Biggs, W H; Zavitz, K H; Dickson, B; van der Straten, A; Brunner, D; Hafen, E; Zipursky, S L

    1994-01-01

    Mitogen-activated protein (MAP) kinases have been proposed to play a critical role in receptor tyrosine kinase (RTK)-mediated signal transduction pathways. Although genetic and biochemical studies of RTK pathways in Caenorhabditis elegans, Drosophila melanogaster and mammals have revealed remarkable similarities, a genetic requirement for MAP kinases in RTK signaling has not been established. During retinal development in Drosophila, the sevenless (Sev) RTK is required for development of the ...

  16. Construction of a bacterial artificial chromosome (BAC) library of Lycopersicon esculentum cv. Stevens and its application to physically map the Sw-5 locus

    NARCIS (Netherlands)

    Spassova, MI; Prins, M; Stevens, MR; Hille, J; Goldbach, RW; Spassova, Mariana I.; Stevens, Mikel R.; Goldbach, Rob W.

    1999-01-01

    The Sw-5 gene is a dominantly inherited resistance gene in tomato and functional against a number of tospovirus species. The gene has been mapped on chromosome 9, tightly linked to RFLP markers CT220 and SCAR421. To analyse the Sw-5 locus, a BAC genomic library was constructed of tomato cv. Stevens,

  17. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    DEFF Research Database (Denmark)

    Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

    2011-01-01

    Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive men...

  18. Fine mapping of the sunflower resistance locus Pl(ARG) introduced from the wild species Helianthus argophyllus.

    Science.gov (United States)

    Wieckhorst, S; Bachlava, E; Dussle, C M; Tang, S; Gao, W; Saski, C; Knapp, S J; Schön, C-C; Hahn, V; Bauer, E

    2010-11-01

    Downy mildew, caused by Plasmopara halstedii, is one of the most destructive diseases in cultivated sunflower (Helianthus annuus L.). The dominant resistance locus Pl(ARG) originates from silverleaf sunflower (H. argophyllus Torrey and Gray) and confers resistance to all known races of P. halstedii. We mapped Pl(ARG) on linkage group (LG) 1 of (cms)HA342 × ARG1575-2, a population consisting of 2,145 F(2) individuals. Further, we identified resistance gene candidates (RGCs) that cosegregated with Pl(ARG) as well as closely linked flanking markers. Markers from the target region were mapped with higher resolution in NDBLOS(sel) × KWS04, a population consisting of 2,780 F(2) individuals that does not segregate for Pl(ARG). A large-insert sunflower bacterial artificial chromosome (BAC) library was screened with overgo probes designed for markers RGC52 and RGC151, which cosegregated with Pl(ARG). Two RGC-containing BAC contigs were anchored to the Pl(ARG) region on LG 1.

  19. Fine mapping of the sunflower resistance locus PlARG introduced from the wild species Helianthus argophyllus

    Science.gov (United States)

    Wieckhorst, S.; Bachlava, E.; Dußle, C. M.; Tang, S.; Gao, W.; Saski, C.; Knapp, S. J.; Schön, C.-C.; Hahn, V.

    2010-01-01

    Downy mildew, caused by Plasmopara halstedii, is one of the most destructive diseases in cultivated sunflower (Helianthus annuus L.). The dominant resistance locus PlARG originates from silverleaf sunflower (H. argophyllus Torrey and Gray) and confers resistance to all known races of P. halstedii. We mapped PlARG on linkage group (LG) 1 of (cms)HA342 × ARG1575-2, a population consisting of 2,145 F2 individuals. Further, we identified resistance gene candidates (RGCs) that cosegregated with PlARG as well as closely linked flanking markers. Markers from the target region were mapped with higher resolution in NDBLOSsel × KWS04, a population consisting of 2,780 F2 individuals that does not segregate for PlARG. A large-insert sunflower bacterial artificial chromosome (BAC) library was screened with overgo probes designed for markers RGC52 and RGC151, which cosegregated with PlARG. Two RGC-containing BAC contigs were anchored to the PlARG region on LG 1. Electronic supplementary material The online version of this article (doi:10.1007/s00122-010-1416-4) contains supplementary material, which is available to authorized users. PMID:20700574

  20. Study of goiter in Madagascar using biochemical and nuclear methods

    International Nuclear Information System (INIS)

    Ranaivoharisoa-Ravaoarinjanahary, Lala.

    Physiopathological and etiological characteristics of goiter in Tananarive and Majunga were compared, using the following methods: 131 iodine uptake, thyroid scintigraphy, radioimmunoassay of thyroid hormones, neutron activation analysis of iodine. The results are discussed and differences between goiter in Tananarive and Majunga are emphasized [fr

  1. Iodine Excess is a Risk Factor for Goiter Formation

    African Journals Online (AJOL)

    iodine deficiency. Although universal salt iodization in Uganda achieved a household coverage of 95% by 2005, goiter rates are still high. This study investigated the association between iodine excess and goiter. Methods: In a case control study, urinary iodine levels, complete blood count, T3, T4 and TSH levels were ...

  2. Thyroid Cancers in Nodular Goiters in Kano, Nigeria | Edino ...

    African Journals Online (AJOL)

    Cancer is an occasional incidental finding in nodular goiter, but there has been no formal study on this disease in our locality. To determine the occurrence of histologically diagnosed malignancy in patients who presentwith nodular goiters. This is a 7- year (2000-2006) retrospective study of all histologically diagnosed ...

  3. A Color-locus Method for Mapping R V Using Ensembles of Stars

    Science.gov (United States)

    Lee, Albert; Green, Gregory M.; Schlafly, Edward F.; Finkbeiner, Douglas P.; Burgett, William; Chambers, Ken; Flewelling, Heather; Hodapp, Klaus; Kaiser, Nick; Kudritzki, Rolf-Peter; Magnier, Eugene; Metcalfe, Nigel; Wainscoat, Richard; Waters, Christopher

    2018-02-01

    We present a simple but effective technique for measuring angular variation in R V across the sky. We divide stars from the Pan-STARRS1 catalog into Healpix pixels and determine the posterior distribution of reddening and R V for each pixel using two independent Monte Carlo methods. We find the two methods to be self-consistent in the limits where they are expected to perform similarly. We also find some agreement with high-precision photometric studies of R V in Perseus and Ophiuchus, as well as with a map of reddening near the Galactic plane based on stellar spectra from APOGEE. While current studies of R V are mostly limited to isolated clouds, we have developed a systematic method for comparing R V values for the majority of observable dust. This is a proof of concept for a more rigorous Galactic reddening map.

  4. Empirical Bayesian LASSO-logistic regression for multiple binary trait locus mapping.

    Science.gov (United States)

    Huang, Anhui; Xu, Shizhong; Cai, Xiaodong

    2013-02-15

    Complex binary traits are influenced by many factors including the main effects of many quantitative trait loci (QTLs), the epistatic effects involving more than one QTLs, environmental effects and the effects of gene-environment interactions. Although a number of QTL mapping methods for binary traits have been developed, there still lacks an efficient and powerful method that can handle both main and epistatic effects of a relatively large number of possible QTLs. In this paper, we use a Bayesian logistic regression model as the QTL model for binary traits that includes both main and epistatic effects. Our logistic regression model employs hierarchical priors for regression coefficients similar to the ones used in the Bayesian LASSO linear model for multiple QTL mapping for continuous traits. We develop efficient empirical Bayesian algorithms to infer the logistic regression model. Our simulation study shows that our algorithms can easily handle a QTL model with a large number of main and epistatic effects on a personal computer, and outperform five other methods examined including the LASSO, HyperLasso, BhGLM, RVM and the single-QTL mapping method based on logistic regression in terms of power of detection and false positive rate. The utility of our algorithms is also demonstrated through analysis of a real data set. A software package implementing the empirical Bayesian algorithms in this paper is freely available upon request. The EBLASSO logistic regression method can handle a large number of effects possibly including the main and epistatic QTL effects, environmental effects and the effects of gene-environment interactions. It will be a very useful tool for multiple QTLs mapping for complex binary traits.

  5. Generation of a transcription map from the 17q21 region containing the BRCA1 locus

    Energy Technology Data Exchange (ETDEWEB)

    Rommens, J.M.; McArthur, J.; Allen, T. [Univ. of Toronto (Canada)] [and others

    1994-09-01

    A limited interval of the chromosome 17q21 has been implicated in hereditary breast and ovarian cancer by linkage analysis. The type I 17{beta}-hydroxysteriod dehydrogenase gene (17{beta}HSD) was used to isolate two YACs. These and additional YACs identified with nearby genetic markers were characterized to obtain a detailed physical map of the BRCA1 region. This map provided the basis for the generation of a transcription map in order to identify candidate genes that could be assessed for involvement in the development of breast cancer in affected families. Direct selection of cDNAs from the genomic clones was carried out by hybridization with primary cDNA pools that had been prepared from RNA of mammary gland, ovary, placenta and the Caco-2 colon carcinoma cell line. The selected material was amplified by the polymerase chain reaction and cloned into plasmid vectors. Individual clones of the libraries of the retrieved fragments were then characterized by physical mapping, by RNA hybridization and by sequence analysis. To date, 36 unique cDNA fragments have been mapped to this region and confirmed to originate from chromosome 17. Longer cDNAs were also isolated by screening libraries derived from human breast and placenta. Based on analyses of these clones we have evidence for at least 12 genes from a 1 Megabase region. These include the type I 17{beta}HSD gene and the human {gamma}-tubulin gene. Sequences of two of the cDNA fragments showed similarity to a human brain cDNA and to a human pancreas cDNA. The predicted coding portion of one cDNA showed similarity with a rat ribosomal protein. Also, one cDNA fragment was found to be part of the recently identified gene corresponding to the CA125 antigen. The sequences of the remaining clones showed no strong similarity to known genes or proteins. These cDNAs are being analyzed by DNA and RNA hybridization for aberrations in breast and ovarian cancers.

  6. Association of common genetic variants in the MAP4K4 locus with prediabetic traits in humans.

    Directory of Open Access Journals (Sweden)

    Tina Sartorius

    Full Text Available Mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4 is expressed in all diabetes-relevant tissues and mediates cytokine-induced insulin resistance. We investigated whether common single nucleotide polymorphisms (SNPs in the MAP4K4 locus associate with glucose intolerance, insulin resistance, impaired insulin release, or elevated plasma cytokines. The best hit was tested for association with type 2 diabetes. Subjects (N = 1,769 were recruited from the Tübingen Family (TÜF study for type 2 diabetes and genotyped for tagging SNPs. In a subgroup, cytokines were measured. Association with type 2 diabetes was tested in a prospective case-cohort study (N = 2,971 derived from the EPIC-Potsdam study. Three SNPs (rs6543087, rs17801985, rs1003376 revealed nominal and two SNPs (rs11674694, rs11678405 significant associations with 2-hour glucose levels. SNPs rs6543087 and rs11674694 were also nominally associated with decreased insulin sensitivity. Another two SNPs (rs2236936, rs2236935 showed associations with reduced insulin release, driven by effects in lean subjects only. Three SNPs (rs11674694, rs13003883, rs2236936 revealed nominal associations with IL-6 levels. SNP rs11674694 was significantly associated with type 2 diabetes. In conclusion, common variation in MAP4K4 is associated with insulin resistance and β-cell dysfunction, possibly via this gene's role in inflammatory signalling. This variation's impact on insulin sensitivity may be more important since its effect on insulin release vanishes with increasing BMI.

  7. Genetic architecture of contemporary adaptation to biotic invasions: quantitative trait locus mapping of beak reduction in soapberry bugs.

    Science.gov (United States)

    Yu, Y; Andrés, Jose A

    2014-02-19

    Biological invasions can result in new selection pressures driven by the establishment of new biotic interactions. The response of exotic and native species to selection depends critically on the genetic architecture of ecologically relevant traits. In the Florida peninsula, the soapberry bug (Jadera haematoloma) has colonized the recently introduced Chinese flametree, Koelreuteria elegans, as a host plant. Driven by feeding efficiency, the populations associated with this new host have differentiated into a new bug ecomorph characterized by short beaks more appropriate for feeding on the flattened pods of the Chinese flametree. In this study, we have generated a three-generation pedigree from crossing the long-beaked and short-beaked ecomorphs to construct a de novo linkage map and to locate putative quantitative trait locus (QTL) controlling beak length and body size in J. haematoloma. Using amplified fragment-length polymorphism markers and a two-way pseudo-testcross design, we have produced two parental maps in six linkage groups, covering the known number of chromosomes. QTL analysis revealed one significant QTL for beak length on a maternal linkage group and the corresponding paternal linkage group. Three QTL were found for body size. Through single marker regression analysis, nine single markers that could not be placed on the map were also found to be significantly associated with one or both of the two traits. Interestingly, the most significant body size QTL co-localized with the beak length QTL, suggesting linkage disequilibrium or pleiotropic effects of related traits. Our results suggest an oligogenic control of beak length.

  8. Mapping of Id locus for dermal shank melanin in a Chinese indigenous chicken breed.

    Science.gov (United States)

    Xu, Jiguo; Lin, Shudai; Gao, Xinfeng; Nie, Qinghua; Luo, Qingbin; Zhang, Xiquan

    2017-12-01

    The dermal shank pigmentation, one of the defining traits of chicken breeds, is caused by an abnormal deposition of melanin in the dermis of the shank. The abnormal deposition is controlled by the sex-linked inhibitor of dermal melanin (Id). In this study, we aim to locate the gene responsible for the dermal shank pigmentation in chickens by an association analysis and a differential expression analysis. Based on our results, 72 single-nucleotide polymorphisms (SNPs) located in Z chromosome (chrZ): 71-73 Mb (galGal3) were selected to further explore their relationships with the dermal shank pigmentation in pure lines of 96 Gushi hens and 96 Gushi hens with a yellow shank skin colour. The results of the association analysis showed that the SNPs located in chrZ: 72.58-72.99 Mb (galGal3) (chrZ: 79.02-79.44 Mb (galGal4)) are significantly associated with the dermal shank pigmentation. Based on the results of our previous studies and the present association analysis, the zinc-finger protein 608 (ZNF608), GRAM domain containing 3 (GRAMD3), aldehyde dehydrogenase 7 family member A1 (ALDH7A1), fem-1 homologue C (FEM1C), beta-1,4-galactosyltransferase 1 (B4GALT1) and versican (VCAN) genes were selected for the differential expression analysis. The gene expression profiles showed that the expression of GRAMD3 gene in the dermis tissues of the shank was significantly (P = 0.010738 < 0.05) higher in 350-day-old Gushi chickens characterized by the dermal shank pigmentation than in one-day-old Gushi chickens. The dermal shank pigmentation was not present in the one-day-old Gushi chickens. Additionally, the results of the association analysis and the expression analysis showed that GRAMD3 could be the most likely candidate gene for the Id locus. However, we did not detect a mutation, i.e. significantly associated with this trait within GRAMD3. Therefore, we concluded that the variations located in the flanking region of GRAMD3 led to the abnormal expression of GRAMD3, which

  9. Total thyroidectomy for multi - nodular goiter

    International Nuclear Information System (INIS)

    Ali, M.A.; Raziq, S.R.; Khan, W.A.; Majeed, S.

    2011-01-01

    Objective: To assess the efficacy and safety of total thyroidectomy for benign multi-nodular goiter. Study design: Descriptive study Place and Duration of Study: The study was conducted in the Department of General Surgery, Combined Military Hospital Kharian from January 2004 to December 2008. Materials and Methods: A total of 66 patients with bilateral benign multi-nodular goiter (61 females and 5 males) underwent total thyroidectomy. Sixty two cases were euthyroid while 4 had hyperthyroidism. Surgical dissection techniques involved identifying both recurrent laryngeal nerves through out their course, securing of parathyroid glands with their intact blood supply and ligation of inferior thyroid artery branches close to the thyroid capsule. All the patients were evaluated post operatively for signs of recurrent laryngeal nerve injury and hypoparathyroidism and other complications. All patients were put on thyroxin replacement therapy post-operatively and were followed for 9 to 12 months. There was no injury to the recurrent laryngeal nerves. One case of injury to external laryngeal nerve was found. Transient hypocalcaemia occurred in 4 patients without permanent hypoparathyroidism. All cases of transient hypocalcaemia recovered fully within 3 months. Four patients had occult malignancy diagnosed post-operatively on histo-pathology. In experienced hands, total thyroidectomy is an effective and relatively safe operation for benign multi-nodular goitre and its complication rate is same as that of a sub-total thyroidectomy. (author)

  10. A transcription map of the 6p22.3 reading disability locus identifying candidate genes.

    Science.gov (United States)

    Londin, Eric R; Meng, Haiying; Gruen, Jeffrey R

    2003-06-30

    Reading disability (RD) is a common syndrome with a large genetic component. Chromosome 6 has been identified in several linkage studies as playing a significant role. A more recent study identified a peak of transmission disequilibrium to marker JA04 (G72384) on chromosome 6p22.3, suggesting that a gene is located near this marker. In silico cloning was used to identify possible candidate genes located near the JA04 marker. The 2 million base pairs of sequence surrounding JA04 was downloaded and searched against the dbEST database to identify ESTs. In total, 623 ESTs from 80 different tissues were identified and assembled into 153 putative coding regions from 19 genes and 2 pseudogenes encoded near JA04. The identified genes were tested for their tissue specific expression by RT-PCR. In total, five possible candidate genes for RD and other diseases mapping to this region were identified.

  11. A transcription map of the 6p22.3 reading disability locus identifying candidate genes

    Directory of Open Access Journals (Sweden)

    Gruen Jeffrey R

    2003-06-01

    Full Text Available Abstract Background Reading disability (RD is a common syndrome with a large genetic component. Chromosome 6 has been identified in several linkage studies as playing a significant role. A more recent study identified a peak of transmission disequilibrium to marker JA04 (G72384 on chromosome 6p22.3, suggesting that a gene is located near this marker. Results In silico cloning was used to identify possible candidate genes located near the JA04 marker. The 2 million base pairs of sequence surrounding JA04 was downloaded and searched against the dbEST database to identify ESTs. In total, 623 ESTs from 80 different tissues were identified and assembled into 153 putative coding regions from 19 genes and 2 pseudogenes encoded near JA04. The identified genes were tested for their tissue specific expression by RT-PCR. Conclusions In total, five possible candidate genes for RD and other diseases mapping to this region were identified.

  12. Towards annotating the plant epigenome: the Arabidopsis thaliana small RNA locus map.

    Science.gov (United States)

    Hardcastle, Thomas J; Müller, Sebastian Y; Baulcombe, David C

    2018-04-20

    Based on 98 public and internal small RNA high throughput sequencing libraries, we mapped small RNAs to the genome of the model organism Arabidopsis thaliana and defined loci based on their expression using an empirical Bayesian approach. The resulting loci were subsequently classified based on their genetic and epigenetic context as well as their expression properties. We present the results of this classification, which broadly conforms to previously reported divisions between transcriptional and post-transcriptional gene silencing small RNAs, and to PolIV and PolV dependencies. However, we are able to demonstrate the existence of further subdivisions in the small RNA population of functional significance. Moreover, we present a framework for similar analyses of small RNA populations in all species.

  13. Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21

    Energy Technology Data Exchange (ETDEWEB)

    Kaerrman, C.; Holmgren, G.; Forsman, K. [Univ. Hospital, Umea (Sweden)]|[Univ. of Umea (Sweden)] [and others

    1997-01-15

    Amelogenesis imperfecta (Al) is a clinically and genetically heterogeneous group of inherited enamel defects. We recently mapped a locus for autosomal dominant local hypoplastic amelogenesis imperfecta (AIH2) to the long arm of chromosome 4. The disease gene was localized to a 17.6-cM region between the markers D4S392 and D4S395. The albumin gene (ALB), located in the same interval, was a candidate gene for autosomal dominant AI (ADAI) since albumin has a potential role in enamel maturation. Here we describe refined mapping of the AIH2 locus and the construction of marker maps by radiation hybrid mapping and yeast artificial chromosome (YAC)-based sequence tagged site-content mapping. A radiation hybrid map consisting of 11 microsatellite markers in the 5-cM interval between D4S409 and D4S1558 was constructed. Recombinant haplotypes in six Swedish ADAI families suggest that the disease gene is located in the interval between D4S2421 and ALB. ALB is therefore not likely to be the disease-causing gene. Affected members in all six families share the same allele haplotypes, indicating a common ancestral mutation in all families. The AIH2 critical region is less than 4 cM and spans a physical distance of approximately 4 Mb as judged from radiation hybrid maps. A YAC contig over the AIH2 critical region including several potential candidate genes was constructed. 35 refs., 4 figs., 1 tab.

  14. Construction of a high-density genetic map based on large-scale marker development in mango using specific-locus amplified fragment sequencing (SLAF-seq

    Directory of Open Access Journals (Sweden)

    Chun Luo

    2016-08-01

    Full Text Available Genetic maps are particularly important and valuable tools for quantitative trait locus (QTL mapping and marker assisted selection (MAS of plant with desirable traits. In this study, 173 F1 plants from a cross between Mangifera indica L. ‘Jin-Hwang’ and M. indica L. ‘Irwin’ and their parent plants were subjected to high-throughput sequencing and specific-locus amplified fragment (SLAF library construction. After preprocessing, 66.02 Gb of raw data containing 330.64 M reads were obtained. A total of 318,414 SLAFs were detected, of which 156,368 were polymorphic. Finally, 6,594 SLAFs were organized into a linkage map consisting of 20 linkage groups (LGs. The total length of the map was 3148.28 cM and the average distance between adjacent markers was 0.48 cM. This map could be considered, to our knowledge, the first high-density genetic map of mango, and might form the basis for fine QTL mapping and MAS of mango.

  15. Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21

    Energy Technology Data Exchange (ETDEWEB)

    Rommens, J.M.; McArthur, J.; Allen, T. [Univ. of Toronto, Ontario (Canada)] [and others

    1995-08-10

    A detailed transcription map of the 320-kb region containing the HSD17B locus on chromosome 17 was generated. Thirty unique cDNA fragments, retrieved following the hybridization of immobilized YACs to primary pools of cDNAs prepared from RNA of mammary gland, ovary, placenta, and the Caco-2 cell line, were aligned into 10 transcription units by physical mapping and hybridization to RNAs of a series of tissues. The cDNAs were then further characterized by sequencing and used to screen mammary gland DNA libraries. Fragments corresponding to the broadly expressed {gamma}-tubulin and Ki antigen genes were identified. A full-length cDNA clone encoding a 117-amino-acid protein homologous to the rat ribosomal protein L34 was isolated. Portions of genes with restricted patterns of expression were also obtained, including the previously characterized HSD17B1. One new gene, for which a full-length cDNA was isolated, was found to have an interesting tissue-specific pattern of expression with abundant mRNA in both the colon and the testis and in the mammary carcinoma cell line BT-474. This contrasted with the barely detectable level observed in several tissues including normal mammary gland. Of the five additional transcription units identified, one showed no similarity, two showed identity to human expressed sequences, and two displayed similarity to genes of animal species by amino acid alignment. These latter cDNA clones include potential homologues of a rat nuclear tyrosine phosphatase and of a factor of Drosophila that is known to be involved in the negative regulation of transcription of segment identity genes. 44 refs., 7 figs., 1 tab.

  16. Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma.

    Directory of Open Access Journals (Sweden)

    John Kuchtey

    2011-02-01

    Full Text Available Primary open angle glaucoma (POAG is a leading cause of blindness worldwide, with elevated intraocular pressure as an important risk factor. Increased resistance to outflow of aqueous humor through the trabecular meshwork causes elevated intraocular pressure, but the specific mechanisms are unknown. In this study, we used genome-wide SNP arrays to map the disease gene in a colony of Beagle dogs with inherited POAG to within a single 4 Mb locus on canine chromosome 20. The Beagle POAG locus is syntenic to a previously mapped human quantitative trait locus for intraocular pressure on human chromosome 19. Sequence capture and next-generation sequencing of the entire canine POAG locus revealed a total of 2,692 SNPs segregating with disease. Of the disease-segregating SNPs, 54 were within exons, 8 of which result in amino acid substitutions. The strongest candidate variant causes a glycine to arginine substitution in a highly conserved region of the metalloproteinase ADAMTS10. Western blotting revealed ADAMTS10 protein is preferentially expressed in the trabecular meshwork, supporting an effect of the variant specific to aqueous humor outflow. The Gly661Arg variant in ADAMTS10 found in the POAG Beagles suggests that altered processing of extracellular matrix and/or defects in microfibril structure or function may be involved in raising intraocular pressure, offering specific biochemical targets for future research and treatment strategies.

  17. Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

    Science.gov (United States)

    Meyer, Kerstin B; O'Reilly, Martin; Michailidou, Kyriaki; Carlebur, Saskia; Edwards, Stacey L; French, Juliet D; Prathalingham, Radhika; Dennis, Joe; Bolla, Manjeet K; Wang, Qin; de Santiago, Ines; Hopper, John L; Tsimiklis, Helen; Apicella, Carmel; Southey, Melissa C; Schmidt, Marjanka K; Broeks, Annegien; Van 't Veer, Laura J; Hogervorst, Frans B; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Fasching, Peter A; Lux, Michael P; Ekici, Arif B; Beckmann, Matthias W; Peto, Julian; Dos Santos Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Sawyer, Elinor J; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Marme, Federick; Schneeweiss, Andreas; Sohn, Christof; Burwinkel, Barbara; Guénel, Pascal; Truong, Thérèse; Laurent-Puig, Pierre; Menegaux, Florence; Bojesen, Stig E; Nordestgaard, Børge G; Nielsen, Sune F; Flyger, Henrik; Milne, Roger L; Zamora, M Pilar; Arias, Jose I; Benitez, Javier; Neuhausen, Susan; Anton-Culver, Hoda; Ziogas, Argyrios; Dur, Christina C; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Stegmaier, Christa; Meindl, Alfons; Schmutzler, Rita K; Engel, Christoph; Ditsch, Nina; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Yatabe, Yasushi; Dörk, Thilo; Helbig, Sonja; Bogdanova, Natalia V; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Chenevix-Trench, Georgia; Wu, Anna H; Tseng, Chiu-Chen; Van Den Berg, David; Stram, Daniel O; Lambrechts, Diether; Thienpont, Bernard; Christiaens, Marie-Rose; Smeets, Ann; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Radice, Paolo; Peterlongo, Paolo; Bonanni, Bernardo; Bernard, Loris; Couch, Fergus J; Olson, Janet E; Wang, Xianshu; Purrington, Kristen; Giles, Graham G; Severi, Gianluca; Baglietto, Laura; McLean, Catriona; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Simard, Jacques; Goldberg, Mark S; Labrèche, France; Dumont, Martine; Teo, Soo-Hwang; Yip, Cheng-Har; Phuah, Sze-Yee; Kristensen, Vessela; Grenaker Alnæs, Grethe; Børresen-Dale, Anne-Lise; Zheng, Wei; Deming-Halverson, Sandra; Shrubsole, Martha; Long, Jirong; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Kauppila, Saila; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Tchatchou, Sandrine; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline M; García-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Czene, Kamila; Darabi, Hartef; Eriksson, Kimael; Hooning, Maartje J; Martens, John W M; van den Ouweland, Ans M W; van Deurzen, Carolien H M; Hall, Per; Li, Jingmei; Liu, Jianjun; Humphreys, Keith; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Cox, Angela; Reed, Malcolm W R; Blot, William; Signorello, Lisa B; Cai, Qiuyin; Pharoah, Paul D P; Ghoussaini, Maya; Harrington, Patricia; Tyrer, Jonathan; Kang, Daehee; Choi, Ji-Yeob; Park, Sue K; Noh, Dong-Young; Hartman, Mikael; Hui, Miao; Lim, Wei-Yen; Buhari, Shaik A; Hamann, Ute; Försti, Asta; Rüdiger, Thomas; Ulmer, Hans-Ulrich; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Vachon, Celine; Slager, Susan; Fostira, Florentia; Pilarski, Robert; Shen, Chen-Yang; Hsiung, Chia-Ni; Wu, Pei-Ei; Hou, Ming-Feng; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Schoemaker, Minouk J; Ponder, Bruce A J; Dunning, Alison M; Easton, Douglas F

    2013-12-05

    The 10q26 locus in the second intron of FGFR2 is the locus most strongly associated with estrogen-receptor-positive breast cancer in genome-wide association studies. We conducted fine-scale mapping in case-control studies genotyped with a custom chip (iCOGS), comprising 41 studies (n = 89,050) of European ancestry, 9 Asian ancestry studies (n = 13,983), and 2 African ancestry studies (n = 2,028) from the Breast Cancer Association Consortium. We identified three statistically independent risk signals within the locus. Within risk signals 1 and 3, genetic analysis identified five and two variants, respectively, highly correlated with the most strongly associated SNPs. By using a combination of genetic fine mapping, data on DNase hypersensitivity, and electrophoretic mobility shift assays to study protein-DNA binding, we identified rs35054928, rs2981578, and rs45631563 as putative functional SNPs. Chromatin immunoprecipitation showed that FOXA1 preferentially bound to the risk-associated allele (C) of rs2981578 and was able to recruit ERα to this site in an allele-specific manner, whereas E2F1 preferentially bound the risk variant of rs35054928. The risk alleles were preferentially found in open chromatin and bound by Ser5 phosphorylated RNA polymerase II, suggesting that the risk alleles are associated with changes in transcription. Chromatin conformation capture demonstrated that the risk region was able to interact with the promoter of FGFR2, the likely target gene of this risk region. A role for FOXA1 in mediating breast cancer susceptibility at this locus is consistent with the finding that the FGFR2 risk locus primarily predisposes to estrogen-receptor-positive disease. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  18. The Mystery of Michelangelo Buonarroti’s Goiter

    Directory of Open Access Journals (Sweden)

    Davide Lazzeri

    2016-01-01

    Full Text Available Whilst painting the vault of the Sistine Chapel, Michelangelo Buonarroti left an autographical sketch that revealed a prominence at the front of his hyper-extended neck. This image was recently diagnosed as goiter. The poet Michelangelo in a sonnet dated 1509 described himself as being afflicted by goiter similarly to the cats in the northern Italian Lombardy, a region with endemic goiter. Several narratives extended this sonnet into a pathological theory. The analyses of Michelangelo’s works, however, his portraits and self-portraits, of poems and major biographies, have not indicated the likelihood of goiter. This investigation makes an attempt to assess the diagnosis on clinical as well as iconographical grounds.

  19. Prenatal diagnosis and treatment perspective of fetal hypothyroidism with goiter

    International Nuclear Information System (INIS)

    Gulraze, A.; Kurdi, W.; Tulbah, M.; Niaz, F.A.

    2013-01-01

    We describe two cases of fetal goiter in women with no history of thyroid disease. Diagnosis of fetal goiter during antenatal care was made by ultrasound and MRI. Congenital hypothyroidism was confirmed by fetal blood sampling that was treated with weekly intra-amniotic injections of L-thyroxin. One fetus was initially treated with four weekly intra-amniotic injections of 200 mu gms of L-thyroxin, later increased to 400 mu gms. The other fetus was treated with only three weekly intraamniotic injections of 400 mu gms of L-thyroxin. Therapeutic response was monitored by repeated ultrasound and MRI along with fetal blood sampling. At birth, none of the babies had goiter and were put on oral thyroxin. Post-natal studies were suggestive of congenital hypothyroidism due to dyshormogenesis. No abnormality was detected at follow-up. These cases highlight the role of intra-amniotic thyroxine in management of fetal hypothyroidism with goiter. (author)

  20. Nodular goiter after occupational accidental exposure to radiation

    Energy Technology Data Exchange (ETDEWEB)

    Pisarev, M.A. [Radiobiology, National Atomic Energy Commission, Buenos Aires (Argentina); Human Biochemistry, Uninversity of Buenos Aires, School of Medicine, Buenos Aires (Argentina); Schnitman, M. [Center of Endocrinology and Metabolism, French Hospital C.Milstein, Buenos Aires (Argentina)

    2012-07-01

    In the present paper we present the consequences of an accidental occupational radiation exposure at a local hospital in Buenos Aires. Control at a local radiology service showed the lack of correct shielding in the X-ray equipment. The physicians and technicians (14 persons) exposed to radiation during 12 months were examined. The survey shows that: a) In 11 out of 14 radiation-exposed patients nodular goiter developed and an additional patient had diffuse goiter which means a goiter incidence of 85.7%; b) In 5 of the nodular goiter patients an increase in the size or the appearance of new nodules was observed along the follow-up period. No cancer was detected by FNA; c) Hypothyroidism was observed in 3/14 patients, and an additional patient had an abnormal TRH-TSH test, suggesting subclinical hypothyroidism; and d) Increased circulating antithyroid antibodies were found in one of the hypothyroid patients

  1. Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.

    Directory of Open Access Journals (Sweden)

    Simon N Stacey

    2010-07-01

    Full Text Available We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of a Chinese population, between rs2046210[T] and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1 genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case:control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210[T] does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively. Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435[G] allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2 x 10(-3, African (OR = 1.35, P = 0.014, and Asian (OR = 1.23, P = 2.9 x 10(-4 population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9 x 10(-7, was without significant heterogeneity between ancestries (P(het = 0.36 and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435[G] are well tagged by rs2046210[T] only in Asians. The rs9397435[G] allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268, which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping.

  2. Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.

    Directory of Open Access Journals (Sweden)

    Nicole A Hawkins

    2016-10-01

    Full Text Available A substantial number of mutations have been identified in voltage-gated sodium channel genes that result in various forms of human epilepsy. SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-onset epileptic encephalopathy. Dravet syndrome patients experience multiple seizures types that are often refractory to treatment, developmental delays, and elevated risk for SUDEP. The same sodium channel mutation can produce epilepsy phenotypes of varying clinical severity. This suggests that other factors, including genetic, modify the primary mutation and change disease severity. Mouse models provide a useful tool in studying the genetic basis of epilepsy. The mouse strain background can alter phenotype severity, supporting a contribution of genetic modifiers in epilepsy. The Scn1a+/- mouse model has a strain-dependent epilepsy phenotype. Scn1a+/- mice on the 129S6/SvEvTac (129 strain have a normal phenotype and lifespan, while [129xC57BL/6J]F1-Scn1a+/- mice experience spontaneous seizures, hyperthermia-induced seizures and high rates of premature death. We hypothesize the phenotypic differences are due to strain-specific genetic modifiers that influence expressivity of the Scn1a+/- phenotype. Low resolution mapping of Scn1a+/- identified several Dravet syndrome modifier (Dsm loci responsible for the strain-dependent difference in survival. One locus of interest, Dsm1 located on chromosome 5, was fine mapped to a 9 Mb region using interval specific congenics. RNA-Seq was then utilized to identify candidate modifier genes within this narrowed region. Three genes with significant total gene expression differences between 129S6/SvEvTac and [129xC57BL/6J]F1 were identified, including the GABAA receptor subunit, Gabra2. Further analysis of Gabra2 demonstrated allele-specific expression. Pharmological manipulation by clobazam, a common anticonvulsant with preferential affinity for the GABRA2

  3. Linkage analysis and comparative mapping of canine progressive rod–cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans

    Science.gov (United States)

    Acland, Gregory M.; Ray, Kunal; Mellersh, Cathryn S.; Gu, Weikuan; Langston, Amelia A.; Rine, Jasper; Ostrander, Elaine A.; Aguirre, Gustavo D.

    1998-01-01

    Progressive rod–cone degeneration (prcd) is the most widespread hereditary retinal disease leading to blindness in dogs and phenotypically is the canine counterpart of retinitis pigmentosa (RP) in humans. In previous efforts to identify the genetic locus for prcd, the canine homologs for many of the genes causally associated with RP in humans, such as RHO, PDE6B, and RDS/peripherin, have been excluded. In parallel with a recent undertaking to establish a framework map of the canine genome, multiple prcd-informative pedigrees have been typed with a panel of more than 100 anchor loci and microsatellite-based markers. Identification of a linkage group flanking prcd ([TK1, GALK1, prcd]–[MYL4, C09.173, C09.2263]–RARA–C09.250–C09.474–NF1) localizes prcd close to the centromeric end of canine chromosome 9 (CFA9), and excludes RARA as a candidate gene. The conserved synteny of this region of CFA9 and distal human chromosome 17q establishes the potential locus homology of prcd in the dog with RP17, a human retinitis pigmentosa locus for which no gene has yet been identified. Assignment of the prcd disease locus to an identified canine autosome represents a powerful application of the developing canine linkage map in medical genetics. The usefulness of this approach is further demonstrated by identification of the correspondence of the prcd interval to homologous human and mouse chromosomal regions. The rapid progress that is now occurring in the field of canine genetics will expedite the identification of the genes underlying many of the inherited traits and diseases that make the dog a unique asset for the study of mammalian traits. PMID:9501213

  4. A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1

    Energy Technology Data Exchange (ETDEWEB)

    Lalwani, A.K.; San Agustin, T.B.; Wilcox, E.R. [LMG, Bethesda, MD (United States)] [and others

    1994-09-01

    Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes and distinctive facial features. WS type I (WS1) is characterized by a high frequency of dystopia canthorum whereas WS type II (WS2) individuals have normal inter canthal distances. Previous studies have shown that WS1 is caused by mutations in the PAX3 gene on chromosome 2q whereas WS2 is unlinked to PAX3. However, analyses of WS2 families have been complicated by the possibility of misdiagnosis of secondary cases with mild features of WS2. We initiated a genome search in 8 WS2 families. Suggestive evidence for linkage to D1S248 and AMY2B was found in one family (both markers: Z-max=2.4 at {Theta}=0), to D1S485 and D1S495 in a second family (both markers: Z-max=2.2 at {Theta}=0), and to D1S248 in a third family (Z-max=1.1 at {Theta}=.11). WS2 was not linked to any of these markers in the total group of families. Location scores for each family were calculated by a six-locus analysis using the marker map AMY2B/D1S486 - .03 - D1S495 - .02 - D1S248 - .05 - D1S457 - .04 - D1S250. Assessment of these scores for linkage and heterogeneity using the admixture test revealed significant evidence for linkage (P<.0001) under the assumption of heterogeneity ({alpha}=.40). The most likely location for WS2 is at D1S495, although either of the intervals flanking this marker may contain the mutant gene. All other locations were ruled out with odds of greater than l00 to 1. Our findings suggest that there are at least two loci for WS type II. Complementary crossovers in the linked families make feasible attempts to narrow the location of the WS2 gene by positional cloning. Analyses of additional families will be needed to estimate more precisely the proportion of linked families and identify the gene.

  5. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene)

    Energy Technology Data Exchange (ETDEWEB)

    Lu-Kuo, J.; Ward, D.C. (Yale Univ., New Haven, CT (United States)); Spritz, R.A. (Univ. of Wisconsin, Madison (United States))

    1993-04-01

    A total of 25 DNA markers located on the long arm of human chromosome 2 have been mapped by fluorescence in situ hybridization. This region includes the locus for Waardenburg syndrome, type I (WS1), recently found to result, at least in some cases, from mutations of the PAX3 gene. The authors have established that the chromosomal location of the PAX3 gene is within band 2q36. They also show that three markers in the distal 2q region, including the PAX3 gene, are deleted in a patient with phenotypic features of WS1 associated with a de novo deletion (2)(q35q36.2). The improved physical map of this region should facilitate linkage mapping and positional cloning of loci on distal 2q. 46 refs., 2 figs., 1 tab.

  6. A 1,681-locus consensus genetic map of cultivated cucumber including 67 NB-LRR resistance gene homolog and ten gene loci.

    Science.gov (United States)

    Yang, Luming; Li, Dawei; Li, Yuhong; Gu, Xingfang; Huang, Sanwen; Garcia-Mas, Jordi; Weng, Yiqun

    2013-03-25

    Cucumber is an important vegetable crop that is susceptible to many pathogens, but no disease resistance (R) genes have been cloned. The availability of whole genome sequences provides an excellent opportunity for systematic identification and characterization of the nucleotide binding and leucine-rich repeat (NB-LRR) type R gene homolog (RGH) sequences in the genome. Cucumber has a very narrow genetic base making it difficult to construct high-density genetic maps. Development of a consensus map by synthesizing information from multiple segregating populations is a method of choice to increase marker density. As such, the objectives of the present study were to identify and characterize NB-LRR type RGHs, and to develop a high-density, integrated cucumber genetic-physical map anchored with RGH loci. From the Gy14 draft genome, 70 NB-containing RGHs were identified and characterized. Most RGHs were in clusters with uneven distribution across seven chromosomes. In silico analysis indicated that all 70 RGHs had EST support for gene expression. Phylogenetic analysis classified 58 RGHs into two clades: CNL and TNL. Comparative analysis revealed high-degree sequence homology and synteny in chromosomal locations of these RGH members between the cucumber and melon genomes. Fifty-four molecular markers were developed to delimit 67 of the 70 RGHs, which were integrated into a genetic map through linkage analysis. A 1,681-locus cucumber consensus map including 10 gene loci and spanning 730.0 cM in seven linkage groups was developed by integrating three component maps with a bin-mapping strategy. Physically, 308 scaffolds with 193.2 Mbp total DNA sequences were anchored onto this consensus map that covered 52.6% of the 367 Mbp cucumber genome. Cucumber contains relatively few NB-LRR RGHs that are clustered and unevenly distributed in the genome. All RGHs seem to be transcribed and shared significant sequence homology and synteny with the melon genome suggesting conservation of

  7. Homolog of the polymorphic 4q35 FSHD locus (p13E-11; D4F104S1) maps to 10qter; exclusion as a second FSHD locus in a large Danish family

    Energy Technology Data Exchange (ETDEWEB)

    Frants, R.R.; Bakker, E.; Vossen, R.H.A.M. [and others

    1994-09-01

    Facioscapulohumeral muscular dystrophy (FSHD) has been mapped to 4q35 and shown to be associated with deletions that are detectable using probe p13E-11 (D4104S1). These deletions reside within highly polymorphic restriction fragments (20-300 kb) which can normally only be resolved completely using pulsed-field gel electrophoresis (PFGE). Family studies showed that p13E-11 detects two non-allelic loci, only one of which originates from 4q35 origin. In 20 CEPH families, 8 individuals were identified showing a `small` EcoRI fragment detectable by conventional Southern blotting. Linkage analysis allowed assignment of these fragments to 10qter (D10S212 and D10S180) in all families tested. Since FSHD shows genetic heterogeneity, this second p13E-11 locus on 10qter became an interesting candidate as a second FSHD family did not provide evidence for linkage on chromosome 10qter.

  8. A Mouse Homeo Box Gene, Hox-1.5, and the Morphological Locus, Hd, Map to within 1 Cm on Chromosome 6

    OpenAIRE

    Mock, Beverly A.; D'Hoostelaere, Lawrence A.; Matthai, Roberta; Huppi, Konrad

    1987-01-01

    Mo-10, a homeo box-containing sequence in the Hox-1 complex of genes referred to as Hox-1.5, was found to be polymorphic in inbred and wild mice, and a strain distribution of three allelic forms of Hox-1.5 are reported. The position of Hox-1.5 was mapped in backcross experiments to within 1 cM of the hypodactyly locus on chromosome 6. This identifies the Hd mutation as a useful model for the examination of homeo box expression during mammalian development.

  9. Goiter in adult patients aged 55 years and older: etiology and clinical features in 634 patients.

    Science.gov (United States)

    Díez, Juan J

    2005-07-01

    Goiter is common in older people, although the frequency of the different causes of goiter has not been well defined. Our aim has been to assess the frequency of the diverse etiologies of goiter in adult patients aged 55 years and older, and evaluate the relationships between etiology and age, sex, and goiter features. We performed a descriptive, cross-sectional study in ambulatory patients in the setting of an endocrinology clinic. Six hundred thirty-four patients (544 women, 85.8%) with goiter, aged 55-91 years, were studied. Causes of goiter were nontoxic multinodular goiter (325 patients, 51.3%); toxic multinodular goiter (151 patients, 23.8%); solitary thyroid nodule (62 patients, 9.8%); toxic adenoma (32 patients, 5.0%); Graves' disease (27 patients, 4.3%); Hashimoto's thyroiditis (25 patients, 3.9%); simple goiter (8 patients, 1.3%); thyroiditis (3 patients, 0.5%); and thyroid-stimulating hormone-secreting pituitary adenoma (1 patient, 0.2%). Patients with multinodular goiter had greater thyroid size and longer time of evolution than those patients with uninodular disease. Most of the symptoms and signs associated with goiter were dependent on thyroid size and time of evolution. Age and sex conditioned the presence of retrosternal goiter and tracheal deviation, and previous therapy was related to retrosternal goiter and local symptoms. However, etiology was not associated with the presence of any symptom. Nontoxic and toxic multinodular goiter are the main etiologies of goiter in patients aged 55 years and older. Thyroid size is the main factor influencing the appearance of signs and symptoms, although age and sex are related with the presence of retrosternal goiter and tracheal deviation.

  10. Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region

    Energy Technology Data Exchange (ETDEWEB)

    Jabs, E.W.; Li, Xiang; Coss, C.; Taylor, E. (Johns Hopkins School of Medicine, Baltimore, MD (United States)); Lovett, M. (Univ. of Texas Southwestern Medical Center, San Antonio, TX (United States)); Yamaoka, L.H.; Speer, M.C. (Duke Univ. Medical Center, Durham, NC (United States)); Cadle, R.; Hall, B. (Univ. of Kentucky, Lexington, KY (United States)); Brown, K. (Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, NY (United States)) (and others)

    1993-10-01

    Treacher Collins syndrome is an autosomal dominant, craniofacial developmental disorder, and its locus (TCOF1) has been mapped to chromosome 5q3. To refine the location of the gene within this region, linkage analysis was performed among the TCOF1 locus and 12 loci (IL9, FGFA, GRL, D5S207, D5S210, D5S376, CSF1R, SPARC, D5S119, D5S209, D5S527, FGFR4) in 13 Treacher Collins syndrome families. The highest maximum lod score was obtained between loci TCOF1 and D5S210 (Z = 10.52; [theta] = 0.02 [+-] 0.07). The best order, IL9-GRL-D5S207/D5S210-CSF1R-SPARC-D5S119, and genetic distances among these loci were determined in the 40 CEPH families by multipoint linkage analysis. YAC clones were used to establish the order of loci, centromere-5[prime]GRL3[prime]-D5S207-D5S210-D5S376-CSF1R-SPARC-D5S119-telomere. By combining known physical mapping data with ours, the order of chromosome 5q3 markers is centomere-IL9-FGFA-5[prime]GRL3[prime]-D5s207-D5S210-D5S376-CSF1R-SPARC-D5S119-D5S209-FGFR4-telomere. Based on this order, haplotype analysis suggests that the TCOF1 locus resides distal CSF1R and proximal to SPARC within a region less than 1 Mb in size. 29 refs., 2 figs., 2 tabs.

  11. VNTR internal structure mapping at the {alpha}-globin 3{prime}HVR locus reveals a hierachy of related lineages in oceania

    Energy Technology Data Exchange (ETDEWEB)

    Martinson, J.J.; Clegg, J.B.; Boyce, A.J. [Univ. of Oxford (United Kingdom)

    1994-09-01

    Analysis of the {alpha}-globin gene complex in Oceania has revealed many different rearrangements which remove one of the adult globin genes. Frequencies of these deletion chromosomes are elevated by malarial resistance conferred by the resulting {alpha}-thalassaemia. One particular deletion chromosome, designated -{alpha}{sup 3.7}III, is found at high levels in Melanesia and Polynesia: RFLP haplotype analysis shows that this deletion is always found on chromosomes bearing the IIIa haplotype and is likely to be the product of one single rearrangement event. A subset of the -{alpha}{sup 3.7}III chromosomes carries a more recent mutation which generates the haemoglobin variant HbJ{sup Tongariki}. We have characterized the allelic variation at the 3{prime}HVR VNTR locus located 6 kb from the globin genes in each of these groups of chromosomes. We have determined the internal structure of these alleles by RFLP mapping of PCR-amplified DNA: within each group, the allelic diversity results from the insertion and/or deletion of small {open_quotes}motifs{close_quotes} of up to 6 adjacent repeats. Mapping of 3{prime}HVR alleles associated with other haplotypes reveals that these are composed of repeat arrays that are substantially different to those derived from IIIa chromosomes, indicating that interchromosomal recombination between heterologous haplotypes does not account for any of the diversity seen to date. We have recently shown that allelic size variation at the two VNTR loci flanking the {alpha}-globin complex is very closely linked to the haplotypes known to be present at this locus. Here we show that, within a haplotype, VNTR alleles are very closely related to each other on the basis of internal structure and demonstrate that intrachromosomal mutation processes involving small numbers of tandem repeats are the main cause of variation at this locus.

  12. Interrelationships between age, thyroid volume, thyroid nodularity, and thyroid function in patients with sporadic nontoxic goiter

    NARCIS (Netherlands)

    Berghout, A.; Wiersinga, W. M.; Smits, N. J.; Touber, J. L.

    1990-01-01

    To test the hypothesis that during the natural history of sporadic nontoxic goiter (SNG), a diffuse goiter precedes a multinodular goiter with gradual development of autonomous thyroid function. A cross-sectional survey of 102 consecutive patients with SNG (seven male, 95 female) was performed.

  13. The receptor locus for escherichia coli F4ab/F4ac in the pig maps distal to the MUC4-LMLN region

    DEFF Research Database (Denmark)

    Rampoldi, Antonio; Jacobsen, Mette Juul; Bertschinger, Hans U.

    2011-01-01

    antigenic variants, F4ab, F4ac, and F4ad, of which F4ac is the most common. Resistance to ETEC F4ab/F4ac adhesion in pigs has been shown to be inherited as an autosomal recessive trait. In previous studies the ETEC F4ab/F4ac receptor locus (F4bcR) was mapped to the q41 region on pig chromosome 13....... A polymorphism within an intron of the mucin 4 (MUC4) gene, which is one of the possible candidate genes located in this region, was shown earlier to cosegregate with the F4bcR alleles. Recently, we discovered a Large White boar from a Swiss experimental herd with a recombination between F4bcR and MUC4. A three......-generation pedigree including 45 offspring was generated with the aim to use this recombination event to refine the localization of the F4bcR locus. All pigs were phenotyped using the microscopic adhesion test and genotyped for a total of 59 markers. The recombination event was mapped to a 220-kb region between...

  14. Amyloid goiter: two cases and a review of the Literature

    International Nuclear Information System (INIS)

    Yildiz, Levent; Kefeli, Mehmet; Kose, Behiye; Baris, Sancar

    2007-01-01

    Although involvement of the thyroid gland by amyloid is a relatively common phenomenon, clinically significant enlargement of the thyroid owing to amyloid deposition is an extremely rare occurrence. We describe two cases of amyloid goiter and review the relevant literature. The first case was systemic amylloidosis secondary to familial Mediterranean fever. The second case was a chronic renal failure patient who presented with an enlarged thyroid and upper airway obstructive symptoms. To date, true amyloid goiter secondary to amyloidosis associated with familial Mediterranean fever has only been reported in twelve patients. (author)

  15. Iodine versus thyroxine in treatment of simple goiter in sudan

    International Nuclear Information System (INIS)

    Hassan, A.M; Khangi, F.A; Ali, N.I.; Besheir, S.O.; Eltom, M.A.

    2003-01-01

    This study was designed to update the existing information concening goiter prevalence and iodine deficiency disorders in omdurman city and to compare the effects of thyroxine versus iodine in the treament of simlpe goiter. Thyroxine in different doses is commonly used in treatment of simple goiter in Sudan. The goiter survey was conducted in Omdurman secondary school for girls (Khartoum state). Of the goitrous subjects 99 girls were selected to participate in the treament protocol. A control group of 54 non-goitrous subjects from the same school were also included. The goitrous subjects were divided randomly into two groups receiving either daily dose of 100 μg thyroxine for six months or a single dose of 400 mg of oral iodine in the form of iodized oil. Blood and urine samples were collected from the goitrous and control group and recollected from the goitrous subjects every six weeks for six months. Goiter size was assessed at 3,6 and 14 months after the commencement of the treament. Blood samples were analyzed for serum level of T4,T3 and TSH using sensitive radioimmunoassay techniques. Urine samples were analyzed for urinary iodine excretion. Goiter was found in 139 students out of 1034, (13.4%). They were all euthyroid with simple diffuse goiter.T4 in the goitrous group (93.3±26.9 nmole /L (mean±SD)) was significanty lower than in the control group (106.4±18.2nmole/L,p<0.05). T3 was significantly higher in the goitrous (1.6±0.4 nmole/L) than in the control group (1.3±0.3 nmole/L,p<0.05) while there was no significant difference in the mean serum TSH or urinary iodine excretion between the two groups. More than 70% of the goitrous and the control subjects excreted 2 μg 1 / dI or less. Of the subjects treated with thyroxine 87.8% showed complete disappearance or definite regression of the goiter size compared with 90% of those received iodine after the treament.(Author) =

  16. Iodine versus thyroxine in treatment of simple goiter in sudan

    International Nuclear Information System (INIS)

    Eltom, M.A.; Ali, N.

    2003-01-01

    This study was designed to update the existing information concerning goiter prevalence and iodine deficiency disorders in Omdurman city and to compare the effects of thyroxine versus iodine in the treatment of simple goiter. Thyroxine in different doses is commonly used in treatment of sample goiter in sudan. This goiter survey was conducted in Omdurman secondary school for girls (Khartoum state). Of the goitrous subjects 99 girls were selected to participate in the treatment protocol. A control group of 54 non-goitrous subjects from the same school were also included. This goitrous subjects were divided randomly into two groups receiving either daily dose of 100 μg thyroxine for six months or a single dose of 400 mg of oral iodine in the form iodized oil. Blood and urine samples were collected from the goitrous and control group and recollected from the goitrous subjects every six weeks for six months. Goiter size was assessed at 3,6 and 14 months after the commencement of the treatment. Blood samples were analyzed for serum level of T4, T3 and TSH using sensitive radioimmunoassay techniques. Urine samples were analyzed for urinary iodine excretion. Goiter was found in 139 students out of 1034, (13.4%). They were all euthyroid with simple diffuse goiter. T4 in the goitrous group (93.3±26.9 n mole/L (mean±SD)) was significantly lower than in the control group (106.4±18.2 n mole /L, p<0.05). T3 was significantly higher in the goitrous (1.3 ±0.3 n mole/L, p<0.05) while there was no significant difference in the mean serum TSH or urinary iodine excretion between the two groups. More than 70% of goitrous and the control subjects excreted 2 μg I /dl or less. Of the subjects treated with thyroxine 87.8% showed complete disappearance or definite regression of the goiter sized compared with 90% of those received iodine after the treatment

  17. Retrosternal goiter and thymic carcinoid: A rare co-existence

    Directory of Open Access Journals (Sweden)

    Abdulsalam Yaseen Taha

    2017-12-01

    Full Text Available Retrosternal goiter is diagnosed when more than 50% of the thyroid gland extends below the thoracic inlet. Surgery is the treatment of choice. Carcinoid tumor of thymus gland is very rare. Although both conditions develop in the anterior mediastinum, literature search revealed no patient having both lesions at the same time. Reported herein, is a 55-year old Iraqi man with retrosternal multinodular goiter and a localized solitary primary thymic carcinoid. Thymic tumor was simultaneously removed along right thyroid lobectomy via median sternotomy extended to the neck. Early outcome was good. The patient had no evidence of recurrence after surgery.

  18. Combined linkage and association mapping reveals candidates for Scmv1, a major locus involved in resistance to sugarcane mosaic virus (SCMV) in maize.

    Science.gov (United States)

    Tao, Yongfu; Jiang, Lu; Liu, Qingqing; Zhang, Yan; Zhang, Rui; Ingvardsen, Christina Roenn; Frei, Ursula Karoline; Wang, Baobao; Lai, Jinsheng; Lübberstedt, Thomas; Xu, Mingliang

    2013-10-18

    Sugarcane mosaic virus (SCMV) disease causes substantial losses of grain yield and forage biomass in susceptible maize cultivars. Maize resistance to SCMV is associated with two dominant genes, Scmv1 and Scmv2, which are located on the short arm of chromosome 6 and near the centromere region of chromosome 3, respectively. We combined both linkage and association mapping to identify positional candidate genes for Scmv1. Scmv1 was fine-mapped in a segregating population derived from near-isogenic lines and further validated and fine-mapped using two recombinant inbred line populations. The combined results assigned the Scmv1 locus to a 59.21-kb interval, and candidate genes within this region were predicted based on the publicly available B73 sequence. None of three predicted genes that are possibly involved in the disease resistance response are similar to receptor-like resistance genes. Candidate gene-based association mapping was conducted using a panel of 94 inbred lines with variable resistance to SCMV. A presence/absence variation (PAV) in the Scmv1 region and two polymorphic sites around the Zmtrx-h gene were significantly associated with SCMV resistance. Combined linkage and association mapping pinpoints Zmtrx-h as the most likely positional candidate gene for Scmv1. These results pave the way towards cloning of Scmv1 and facilitate marker-assisted selection for potyvirus resistance in maize.

  19. Fine mapping of a major quantitative trait locus, qLG-9, that controls seed longevity in rice (Oryza sativa L.).

    Science.gov (United States)

    Sasaki, K; Takeuchi, Y; Miura, K; Yamaguchi, T; Ando, T; Ebitani, T; Higashitani, A; Yamaya, T; Yano, M; Sato, T

    2015-04-01

    We fine-mapped a quantitative trait locus, qLG - 9, for seed longevity detected between Japonica-type and Indica-type cultivars. qLG - 9 was mapped in a 30-kb interval of the Nipponbare genome sequence. A quantitative trait locus, qLG-9, for seed longevity in rice has previously been detected on chromosome 9 by using backcross inbred lines derived from a cross between Japonica-type (Nipponbare) and Indica-type (Kasalath) cultivars. In the present study, the chromosomal location of qLG-9 was precisely determined by fine-scale mapping. Firstly, allelic difference in qLG-9 was verified by QTL analysis of an F2 population derived from a cross between Nipponbare and NKSL-1, in which a segment of Kasalath chromosome 9 was substituted in Nipponbare genetic background. Then, we selected F2 plants in which recombination had occurred near qLG-9 and performed F3 progeny testing on these plants to determine the genotype classes of qLG-9. Eventually, qLG-9 was mapped in a 30-kb interval (defined by two markers, CAPSb and CHPa12) of the Nipponbare genome sequence. This allowed us to nominate positional candidate genes of qLG-9. Additionally, we developed near-isogenic lines (NIL) for qLG-9 by marker-assisted selection. qLG-9 NIL showed significantly higher seed longevity than isogenic control of Nipponbare. These results will facilitate cloning of the gene(s) underlying qLG-9 as well as marker-assisted transfer of desirable genes for seed longevity improvement in rice.

  20. Saturated genic SNP mapping identified functional candidates and selection tools for the Pinus monticola Cr2 locus controlling resistance to white pine blister rust.

    Science.gov (United States)

    Liu, Jun-Jun; Sniezko, Richard A; Zamany, Arezoo; Williams, Holly; Wang, Ning; Kegley, Angelia; Savin, Douglas P; Chen, Hao; Sturrock, Rona N

    2017-09-01

    Molecular breeding incorporates efficient tools to increase rust resistance in five-needle pines. Susceptibility of native five-needle pines to white pine blister rust (WPBR), caused by the non-native invasive fungus Cronartium ribicola (J.C. Fisch.), has significantly reduced wild populations of these conifers in North America. Major resistance (R) genes against specific avirulent pathotypes have been found in several five-needle pine species. In this study, we screened genic SNP markers by comparative transcriptome and genetic association analyses and constructed saturated linkage maps for the western white pine (Pinus monticola) R locus (Cr2). Phenotypic segregation was measured by a hypersensitive reaction (HR)-like response on the needles and disease symptoms of cankered stems post inoculation by the C. ribicola avcr2 race. SNP genotypes were determined by HRM- and TaqMan-based SNP genotyping. Saturated maps of the Cr2-linkage group (LG) were constructed in three seed families using a total of 34 SNP markers within 21 unique genes. Cr2 was consistently flanked by contig_2142 (encoding a ruvb-like protein) and contig_3772 (encoding a delta-fatty acid desaturase) across the three seed families. Cr2 was anchored to the Pinus consensus LG-1, which differs from LGs where other R loci of Pinus species were mapped. GO annotation identified a set of NBS-LRR and other resistance-related genes as R candidates in the Cr2 region. Association of one nonsynonymous SNP locus of an NBS-LRR gene with Cr2-mediated phenotypes provides a valuable tool for marker-assisted selection (MAS), which will shorten the breeding cycle of resistance screening and aid in the restoration of WPBR-disturbed forest ecosystems. © 2017 The Authors. Plant Biotechnology Journal published by Society for Experimental Biology and The Association of Applied Biologists and John Wiley & Sons Ltd.

  1. Surgical treatment of benign nodular goiter; report of 72 patients

    Directory of Open Access Journals (Sweden)

    Ediz YORGANCILAR

    2009-03-01

    Full Text Available Surgical resection is usually prefered for the treatment of benign nodular goiter. But the extention of thyroidectomy in the surgical management of benign nodular goiter still remains controversial. Seventytwo patients underwent thyroid surgery between April 2002- July2007 in Kızıltepe State Hospital Otorhinolaryngology Service. Of the patients 63 were women (%87.5, 9 were man (%12.5. The range of age was between 15-62 years and mean age was 36,5. Thirtynine patients had unilateral total lobectomy+ istmusectomy (%54.2, 11 patients had unilateral lobectomy+ isthmusectomy+contralateral subtotal lobectomy (Dunhill Procedure (%15.3, 20 patients had nearly total thyroidectomy (%27.8, 2 patients had total thyroidectomy (% 2.7. Three patients had seroma (%4.1, 2 patients had hemorrhage requiring operative hemostasis (%2.7, 1 patient had suture reaction(%1.3. Patients have not had permanent or temporary nervus laryngeus recurrens injury, hypoparathyroidism and infection.As a result more extent surgical resections must be preferred by the surgeon for the treatment of benign nodular goiter. The preferable surgical treatment of solitary nodules is lobectomy+isthmusectomy. The multinodular goiter must be treated with unilateral lobectomy+ isthmusectomy+contralateral subtotal lobectomy (Dunhill procedure when the remnant thyroid tissue is normal; otherwise nearly total or total thyroidectomy is preferable.

  2. Results of scintigraphic goiter diagnostics of 1975 and 1976

    International Nuclear Information System (INIS)

    Holtz-Zettler, F.

    1980-01-01

    In 2,790 scintiscans of the thyroid gland the distribution of cold, cool, warm and hot nodules and of diffuse goiters was assessed. In 276 scintiscanned patients who underwent operation, classification based on the following criteria: nodule type, palpation, malignancy rate, histology, age and sex. In addition, the occurrence of hyper- and hypothyreosis was investigated. For cold nodules the malignancy rate was 13.7%, for cool nodules 7.7%, for warm nodules 2.7%, and for diffuse goiters 7%; hot nodules didn't show malignant growth. In 9% of all operated preparations malignant degenerations were found; the removed nodular goiters comprised 9.3%. Among all nodules the incidence was 2.2%; 4.6% of all cold nodules were malign. In 20% of all patients with cancer metastases were found; their most frequent localisations were the regional lymphatic nodes. Histologically papillary and follicular carcinomas resulted to be the most frequent carcinomas (36% each); the incidence of anaplastic carcinomas was 20%. Medullary carcinoma and sarcoma were diagnosed once each. In females benign nodules occured more than four times, diffuse goiters and cold malignomas almost three times as much as in males. In both sexes the most benign modules were found between the 50th and 70th year of life, and particularly in the 7th decade of life. Toxic adenomas occurred particularly in women up to 35 years and at the beginning of the 8th decade of life. (orig.) [de

  3. Mapping of Mcs30, a new mammary carcinoma susceptibility quantitative trait locus (QTL30) on rat chromosome 12: identification of fry as a candidate Mcs gene.

    Science.gov (United States)

    Ren, Xuefeng; Graham, Jessica C; Jing, Lichen; Mikheev, Andrei M; Gao, Yuan; Lew, Jenny Pan; Xie, Hong; Kim, Andrea S; Shang, Xiuling; Friedman, Cynthia; Vail, Graham; Fang, Ming Zhu; Bromberg, Yana; Zarbl, Helmut

    2013-01-01

    Rat strains differ dramatically in their susceptibility to mammary carcinogenesis. On the assumption that susceptibility genes are conserved across mammalian species and hence inform human carcinogenesis, numerous investigators have used genetic linkage studies in rats to identify genes responsible for differential susceptibility to carcinogenesis. Using a genetic backcross between the resistant Copenhagen (Cop) and susceptible Fischer 344 (F344) strains, we mapped a novel mammary carcinoma susceptibility (Mcs30) locus to the centromeric region on chromosome 12 (LOD score of ∼8.6 at the D12Rat59 marker). The Mcs30 locus comprises approximately 12 Mbp on the long arm of rat RNO12 whose synteny is conserved on human chromosome 13q12 to 13q13. After analyzing numerous genes comprising this locus, we identified Fry, the rat ortholog of the furry gene of Drosophila melanogaster, as a candidate Mcs gene. We cloned and determined the complete nucleotide sequence of the 13 kbp Fry mRNA. Sequence analysis indicated that the Fry gene was highly conserved across evolution, with 90% similarity of the predicted amino acid sequence among eutherian mammals. Comparison of the Fry sequence in the Cop and F344 strains identified two non-synonymous single nucleotide polymorphisms (SNPs), one of which creates a putative, de novo phosphorylation site. Further analysis showed that the expression of the Fry gene is reduced in a majority of rat mammary tumors. Our results also suggested that FRY activity was reduced in human breast carcinoma cell lines as a result of reduced levels or mutation. This study is the first to identify the Fry gene as a candidate Mcs gene. Our data suggest that the SNPs within the Fry gene contribute to the genetic susceptibility of the F344 rat strain to mammary carcinogenesis. These results provide the foundation for analyzing the role of the human FRY gene in cancer susceptibility and progression.

  4. Mapping of Mcs30, a new mammary carcinoma susceptibility quantitative trait locus (QTL30 on rat chromosome 12: identification of fry as a candidate Mcs gene.

    Directory of Open Access Journals (Sweden)

    Xuefeng Ren

    Full Text Available Rat strains differ dramatically in their susceptibility to mammary carcinogenesis. On the assumption that susceptibility genes are conserved across mammalian species and hence inform human carcinogenesis, numerous investigators have used genetic linkage studies in rats to identify genes responsible for differential susceptibility to carcinogenesis. Using a genetic backcross between the resistant Copenhagen (Cop and susceptible Fischer 344 (F344 strains, we mapped a novel mammary carcinoma susceptibility (Mcs30 locus to the centromeric region on chromosome 12 (LOD score of ∼8.6 at the D12Rat59 marker. The Mcs30 locus comprises approximately 12 Mbp on the long arm of rat RNO12 whose synteny is conserved on human chromosome 13q12 to 13q13. After analyzing numerous genes comprising this locus, we identified Fry, the rat ortholog of the furry gene of Drosophila melanogaster, as a candidate Mcs gene. We cloned and determined the complete nucleotide sequence of the 13 kbp Fry mRNA. Sequence analysis indicated that the Fry gene was highly conserved across evolution, with 90% similarity of the predicted amino acid sequence among eutherian mammals. Comparison of the Fry sequence in the Cop and F344 strains identified two non-synonymous single nucleotide polymorphisms (SNPs, one of which creates a putative, de novo phosphorylation site. Further analysis showed that the expression of the Fry gene is reduced in a majority of rat mammary tumors. Our results also suggested that FRY activity was reduced in human breast carcinoma cell lines as a result of reduced levels or mutation. This study is the first to identify the Fry gene as a candidate Mcs gene. Our data suggest that the SNPs within the Fry gene contribute to the genetic susceptibility of the F344 rat strain to mammary carcinogenesis. These results provide the foundation for analyzing the role of the human FRY gene in cancer susceptibility and progression.

  5. A study of goiter among female adolescents referred to centre for nuclear medicine, Lahore

    International Nuclear Information System (INIS)

    Elahi, S; Hassan, M.; Syed, Z.; Hyder, S.W.; Nazeer, L.; Nagra, S.A.

    2005-01-01

    Objective: To study goiter and thyroid dysfunction in female adolescents residing in Lahore referred to Centre for Nuclear Medicine (CENUM), Mayo Hospital for thyroid scanning and thyroid function tests. Design: Retrospective study of thyroid size, thyroid scan patterns and serum FT/sub 4/ and TSH levels. Setting: Centre for Nuclear Medicine (CENUM), Mayo Hospital, Lahore. Patients: 350 female adolescent referred during September 2002 to April 2003. Main outcome measures: adolescent goiter, thyroid nodules, hyperthyroidism, hypothyroidism, Graves' disease, toxic multi nodular goiter. Results: Among 350 adolescents 212(60.6%) had goiter of various grades mostly visible. Among goiterous patients 136(64.2%) had diffuse and 76 (35.8%) had nodular presentation. The number of patients with solitary nodular goiter (20.7%) was more than multi nodular goiter (15.1%) and number of patients with solitary cold nodule (16.5%) was more than functioning nodule (4.2%). The incidence of biochemical thyroid dysfunction, both overt and subclinical, was detected in 42(19.8%) patients and was significantly more frequent in patients with nodular than diffuse presentation (29% VS 14.7%; p<0.001) and in multinodular than solitary nodular goiter (p<0.005). More than 80% of the patients with solitary nodular goiter were euthyroid. Simple goiter was detected in 116(54.7%), Graves' disease in 5(2.4%) and toxic multinodular goiter in 4(1.9%) patients. Overall incidence of hypothyroidism was more than double as compared to hyperthyroidism. Incidence of nodularity and hypothyroidism was more in large goiter but duration of goiter was not significant in promoting nodularity. Conclusion: Goiterous adolescents need urgent attention because they don't have just diffuse hypertrophy with normal thyroid function. Many are afflicted with dysfunction and nodularity, particularly solitary cold nodule bearing risk of thyroid malignancy. (author)

  6. Molecular Mapping of D1, D2 and ms5 Revealed Linkage between the Cotyledon Color Locus D2 and the Male-Sterile Locus ms5 in Soybean

    Directory of Open Access Journals (Sweden)

    Alina Ott

    2013-07-01

    Full Text Available In soybean, genic male sterility can be utilized as a tool to develop hybrid seed. Several male-sterile, female-fertile mutants have been identified in soybean. The male-sterile, female-fertile ms5 mutant was selected after fast neutron irradiation. Male-sterility due to ms5 was associated with the “stay-green” cotyledon color mutation. The cotyledon color trait in soybean is controlled by two loci, D1 and D2. Association between cotyledon color and male-sterility can be instrumental in early phenotypic selection of sterility for hybrid seed production. The use of such selection methods saves time, money, and space, as fewer seeds need to be planted and screened for sterility. The objectives of this study were to compare anther development between male-fertile and male-sterile plants, to investigate the possible linkages among the Ms5, D1 and D2 loci, and to determine if any of the d1 or d2 mutations can be applied in hybrid seed production. The cytological analysis during anther development displayed optically clear, disintegrating microspores and enlarged, engorged pollen in the male-sterile, female-fertile ms5ms5 plants, a common characteristic of male-sterile mutants. The D1 locus was mapped to molecular linkage group (MLG D1a and was flanked by Satt408 and BARCSOYSSR_01_1622. The ms5 and D2 loci were mapped to MLG B1 with a genetic distance ~12.8 cM between them. These results suggest that use of the d2 mutant in the selection of male-sterile line may attenuate the cost hybrid seed production in soybean.

  7. Physical mapping of the split hand/split foot (SHSF) locus on chromosome 7 reveals a relationship between SHSF and the syndromic ectrodactylies

    Energy Technology Data Exchange (ETDEWEB)

    Poorkaj, P.; Nunes, M.E.; Geshuri, D. [Univ. of Washington, Seattle, WA (United States)] [and others

    1994-09-01

    Split hand/split foot (also knows as ectrodactyly) is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been mapped to 7q21.3-q22.1 on the basis of SHSF-associated chromosomal rearrangements: this locus has been designated SHFD1. We have constructed a physical map of the SHFD1 region that consists of contiguous yeast artificial chromosome clones and spans approximately 8 Mb. Somatic cell hybrid and fluorescent in situ hybridization analyses were used to define SHSF-associated chromosomal breakpoints in fourteen patients. A critical interval of about 1 Mb was established for SHFD1 by analysis of six patients with deletions. Translocation and inversion breakpoints in seven other patients were found to localize within a 500-700 kb interval within the critical region. Several candidate genes including DLX5 and DLX6 (members of the Drosophilia Distal-less homeobox-containing gene family) localize to this region. At least four of these genes are expressed in the developing mouse limb bud. Of particular interest is the observation that 8 of the 14 patients studied have syndromic ectrodactyly, which is characterized by the association of SHSF with a variety of other anomalies including cleft lip/palate, ectodermal dysplasia, and renal anomalies. Thus, these data implicate a single gene or cluster of genes at the SHFD1 locus in a wide range of developmental processes and serve to establish a molecular genetic relationship between simple SHSF and a broad group of human birth defects.

  8. Mapping and Genetic Structure Analysis of the Anthracnose Resistance Locus Co-1HY in the Common Bean (Phaseolus vulgaris L.).

    Science.gov (United States)

    Chen, Mingli; Wu, Jing; Wang, Lanfen; Mantri, Nitin; Zhang, Xiaoyan; Zhu, Zhendong; Wang, Shumin

    2017-01-01

    Anthracnose is a destructive disease of the common bean (Phaseolus vulgaris L.). The Andean cultivar Hongyundou has been demonstrated to possess strong resistance to anthracnose race 81. To study the genetics of this resistance, the Hongyundou cultivar was crossed with a susceptible genotype Jingdou. Segregation of resistance for race 81 was assessed in the F2 population and F2:3 lines under controlled conditions. Results indicate that Hongyundou carries a single dominant gene for anthracnose resistance. An allele test by crossing Hongyundou with another resistant cultivar revealed that the resistance gene is in the Co-1 locus (therefore named Co-1HY). The physical distance between this locus and the two flanking markers was 46 kb, and this region included four candidate genes, namely, Phvul.001G243500, Phvul.001G243600, Phvul.001G243700 and Phvul.001G243800. These candidate genes encoded serine/threonine-protein kinases. Expression analysis of the four candidate genes in the resistant and susceptible cultivars under control condition and inoculated treatment revealed that all the four candidate genes are expressed at significantly higher levels in the resistant genotype than in susceptible genotype. Phvul.001G243600 and Phvul.001G243700 are expressed nearly 15-fold and 90-fold higher in the resistant genotype than in the susceptible parent before inoculation, respectively. Four candidate genes will provide useful information for further research into the resistance mechanism of anthracnose in common bean. The closely linked flanking markers identified here may be useful for transferring the resistance allele Co-1HY from Hongyundou to elite anthracnose susceptible common bean lines.

  9. Mapping and Genetic Structure Analysis of the Anthracnose Resistance Locus Co-1HY in the Common Bean (Phaseolus vulgaris L..

    Directory of Open Access Journals (Sweden)

    Mingli Chen

    Full Text Available Anthracnose is a destructive disease of the common bean (Phaseolus vulgaris L.. The Andean cultivar Hongyundou has been demonstrated to possess strong resistance to anthracnose race 81. To study the genetics of this resistance, the Hongyundou cultivar was crossed with a susceptible genotype Jingdou. Segregation of resistance for race 81 was assessed in the F2 population and F2:3 lines under controlled conditions. Results indicate that Hongyundou carries a single dominant gene for anthracnose resistance. An allele test by crossing Hongyundou with another resistant cultivar revealed that the resistance gene is in the Co-1 locus (therefore named Co-1HY. The physical distance between this locus and the two flanking markers was 46 kb, and this region included four candidate genes, namely, Phvul.001G243500, Phvul.001G243600, Phvul.001G243700 and Phvul.001G243800. These candidate genes encoded serine/threonine-protein kinases. Expression analysis of the four candidate genes in the resistant and susceptible cultivars under control condition and inoculated treatment revealed that all the four candidate genes are expressed at significantly higher levels in the resistant genotype than in susceptible genotype. Phvul.001G243600 and Phvul.001G243700 are expressed nearly 15-fold and 90-fold higher in the resistant genotype than in the susceptible parent before inoculation, respectively. Four candidate genes will provide useful information for further research into the resistance mechanism of anthracnose in common bean. The closely linked flanking markers identified here may be useful for transferring the resistance allele Co-1HY from Hongyundou to elite anthracnose susceptible common bean lines.

  10. Preoperative risk factors in total thyroidectomy of substernal goiter

    Directory of Open Access Journals (Sweden)

    Bove A

    2016-11-01

    Full Text Available Aldo Bove, Raffaella Maria Di Renzo, Gauro D’Urbano, Manuela Bellobono, Vincenzo D’ Addetta, Alfonso Lapergola, Giuseppe Bongarzoni Department of Medicine, Dentistry and Biotechnology, University “G. d’Annunzio” Chieti-Pescara, Chieti Scalo, Italy Abstract: The definition of substernal goiter (SG is based on variable criteria leading to a considerable variation in the reported incidence (from 0.2% to 45%. The peri- and postoperative complications are higher in total thyroidectomy (TT for SG than that for cervical goiter. The aim of this study was to evaluate the preoperative risk factors associated with postoperative complications. From 2002 to 2014, 142 (8.5%; 98 women and 44 men of the 1690 patients who underwent TT had a SG. We retrospectively evaluated the following parameters: sex, age, histology, pre- and retrovascular position, recurrence, and extension beyond the carina. These parameters were then related to the postoperative complications: seroma/hematoma, transient and permanent hypocalcemia, transient and permanent laryngeal nerve palsy, and the length of surgery. The results were further compared with a control group of 120 patients operated on in the same period with TT for cervical goiter. All but two procedures were terminated via cervicotomy, where partial sternotomies were required. No perioperative mortality was observed. Results of the statistical analysis (Student’s t-test and Fisher’s exact test indicated an association between recurrence and extension beyond the carina with all postoperative complications. The group that underwent TT of SG showed a statistically significant higher risk for transient hypocalcemia (relative risk =1.767 with 95% confidence interval: 1.131–2.7605, P=0.0124, and need to treat =7.1 and a trend toward significance for transient recurrent laryngeal nerve palsy (relative risk =6.7806 with 95% confidence interval: 0.8577–53.2898, P=0.0696, and need to treat =20.8 compared to the

  11. Therapy for non-toxic multinodular goiter. Radioiodine therapy as attractive alternative to surgery

    Energy Technology Data Exchange (ETDEWEB)

    Dietlein, M.; Dederichs, B.; Kobe, C.; Theissen, P.; Schmidt, M.; Schicha, H. [Klinik und Poliklinik fuer Nuklearmedizin der Univ. zu Koeln (Germany)

    2006-07-01

    The need for therapy for nodular goiter results from the growth of thyroid nodules over decades and from the possibility of tracheal compression and worsening of respiratory function. Given the high prevalence of non-toxic goiter, the epidemiologically low incidence of clinically apparent thyroid cancer justifies non-surgical strategies. Randomised studies have shown that levothyroxine offers limited therapeutic effects and is inferior to radioiodine therapy regarding goiter shrinkage. When indication for a definitive therapy is given, the choice between resection and radioiodine therapy should consider volume of goiter, severity of clinical symptoms, thyroid uptake, patient's age, co-morbidity, previous resection of goiter, patient's profession and patient's wish. Even in large goiters between 100 and 300 ml radioiodine therapy showed consistent results with goiter size reduction from 35-40% one year and 40-60% two years after radioiodine therapy. Thyroid hormones to prevent recurrence of goiter are not necessary. Recurrent goiters were seldom observed after radioiodine therapy and resulted from initially very large goiters or uptake in dominante nodules or from low {sup 131}I activities. Recombinant human TSH (rhTSH) offers the opportunity to enhance the effect of radioiodine therapy. Observational studies have shown that rhTSH increases low {sup 131}I uptake in case of high alimentary iodine-supply by the factor 4, causes a more homogenous {sup 131}I distribution within the goiter and improves goiter reduction. A phase I study for dose finding is running in the USA. Conclusion: radioiodine therapy for shrinkage of large non-toxic goiter should not be restricted to elderly patients, or to patients with co-morbidity or high operative risk, but is an attractive alternative to surgery in patients with special professions (singer, teacher, speaker) or with the wish for a non-invasive treatment modality. (orig.)

  12. Therapy for non-toxic multinodular goiter. Radioiodine therapy as attractive alternative to surgery

    International Nuclear Information System (INIS)

    Dietlein, M.; Dederichs, B.; Kobe, C.; Theissen, P.; Schmidt, M.; Schicha, H.

    2006-01-01

    The need for therapy for nodular goiter results from the growth of thyroid nodules over decades and from the possibility of tracheal compression and worsening of respiratory function. Given the high prevalence of non-toxic goiter, the epidemiologically low incidence of clinically apparent thyroid cancer justifies non-surgical strategies. Randomised studies have shown that levothyroxine offers limited therapeutic effects and is inferior to radioiodine therapy regarding goiter shrinkage. When indication for a definitive therapy is given, the choice between resection and radioiodine therapy should consider volume of goiter, severity of clinical symptoms, thyroid uptake, patient's age, co-morbidity, previous resection of goiter, patient's profession and patient's wish. Even in large goiters between 100 and 300 ml radioiodine therapy showed consistent results with goiter size reduction from 35-40% one year and 40-60% two years after radioiodine therapy. Thyroid hormones to prevent recurrence of goiter are not necessary. Recurrent goiters were seldom observed after radioiodine therapy and resulted from initially very large goiters or uptake in dominante nodules or from low 131 I activities. Recombinant human TSH (rhTSH) offers the opportunity to enhance the effect of radioiodine therapy. Observational studies have shown that rhTSH increases low 131 I uptake in case of high alimentary iodine-supply by the factor 4, causes a more homogenous 131 I distribution within the goiter and improves goiter reduction. A phase I study for dose finding is running in the USA. Conclusion: radioiodine therapy for shrinkage of large non-toxic goiter should not be restricted to elderly patients, or to patients with co-morbidity or high operative risk, but is an attractive alternative to surgery in patients with special professions (singer, teacher, speaker) or with the wish for a non-invasive treatment modality. (orig.)

  13. Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation

    DEFF Research Database (Denmark)

    Durkin, M E; Loechel, F; Mattei, M G

    1997-01-01

    , heart, lung, skeletal muscle, kidney, and pancreas. The human laminin alpha5-chain gene (LAMA5) was assigned to chromosome 20q13.2-q13.3 by in situ hybridization, and the mouse gene (Lama5) was mapped by linkage analysis to a syntonic region of distal chromosome 2, close to the locus for the ragged (Ra...

  14. Horner Syndrome Due to Intrathoracic Multinodular Goiter (Case Report

    Directory of Open Access Journals (Sweden)

    Selda Korkmaz

    2013-09-01

    Full Text Available Horner syndrome is characterized by miosis, ptosis, facial anhydrosis and enophtalmus and is caused by a lesion along the oculosymphathetic pathway from the hypothalamus to the eye. The long course of the oculosympathetic pathway predisposes it to a wide variety of pathologic processes, ranging from harmless vascular headaches to life-threatening conditions such as carotid artery dissection or malignancy. Thyroid neoplasms, benign or malign, are among unusual causes of Horner syndrome and represent 1.3 - 7.8% of cases. Especially, early diagnosis of benign thyroid neoplasms such as multinodular goiter has particular importance because of its reversiblity with appropriate treatment. We report a case of Horner syndrome which has been developed as a complication of intrathoracic multinodular goiter

  15. Responses to TRH in patients with endemic goiter

    International Nuclear Information System (INIS)

    Carneiro, Laureano; Watanabe, Tomas; El Tamer, Elias; Varela, Amalia; Moran, Dardo; Rinaudo, Antonio; Staneloni, Luis; Degrossi, O.J.

    1978-12-01

    The response to TRH was studied in 32 patients from an endemic goiter area, 20 of them had been previously treated with iodized oil. Blood samples were taken at 0, 20, 40 and 120 minutes after de i.v. administration of 400μg of TRH, and serum levels of TSH, T3 and T4 were measured. The results obtained show that in endemic goiter area there is a modification in the hypothalamus-pituitary-thyroid feedback mechanism, with increased reserve of pituitary TSH and changes in T4 and T3 secretion. The injection of TRH gave exaggerated and delayed responses in the secretion of TSH and T3. Iodized oil used as a prophylatic method produced a disminution of pituitary TSH reserve, and of serum levels of TSH and T3, as a result of the return tonormality of the hypothalamus-pituitary-thyroid feedback mechanism. (author) [es

  16. The First High-Density Genetic Map Construction in Tree Peony (Paeonia Sect. Moutan) using Genotyping by Specific-Locus Amplified Fragment Sequencing.

    Science.gov (United States)

    Cai, Changfu; Cheng, Fang-Yun; Wu, Jing; Zhong, Yuan; Liu, Gaixiu

    2015-01-01

    Genetic linkage maps, permitting the elucidation of genome structure, are one of most powerful genomic tools to accelerate marker-assisted breeding. However, due to a lack of sufficient user-friendly molecular markers, no genetic linkage map has been developed for tree peonies (Paeonia Sect. Moutan), a group of important horticultural plants worldwide. Specific-locus amplified fragment sequencing (SLAF-seq) is a recent molecular marker development technology that enable the large-scale discovery and genotyping of sequence-based marker in genome-wide. In this study, we performed SLAF sequencing of an F1 population, derived from the cross P. ostti 'FenDanBai' × P. × suffruticosa 'HongQiao', to identify sufficient high-quality markers for the construction of high-density genetic linkage map in tree peonies. After SLAF sequencing, a total of 78 Gb sequencing data and 285,403,225 pair-end reads were generated. We detected 309,198 high-quality SLAFs from these data, of which 85,124 (27.5%) were polymorphic. Subsequently, 3518 of the polymorphic markers, which were successfully encoded in to Mendelian segregation types, and were in conformity with the criteria of high-quality markers, were defined as effective markers and used for genetic linkage mapping. Finally, we constructed an integrated genetic map, which comprised 1189 markers on the five linkage groups, and spanned 920.699 centiMorgans (cM) with an average inter-marker distance of 0.774 cM. There were 1115 'SNP-only' markers, 18 'InDel-only' markers, and 56 'SNP&InDel' markers on the map. Among these markers, 450 (37.85%) showed significant segregation distortion (P < 0.05). In conclusion, this investigation reported the first large-scale marker development and high-density linkage map construction for tree peony. The results of this study will serve as a solid foundation not only for marker-assisted breeding, but also for genome sequence assembly for tree peony.

  17. Iodine deficiency among goiter patients in rural South Sudan.

    Science.gov (United States)

    Chuot, Chep C; Galukande, Moses; Ibingira, Charles; Kisa, Nicholas; Fualal, Jane Odubu

    2014-10-23

    It is estimated that 2.2 billion or approximately 30% of the world's population live in iodine-deficient areas. In a 2005 study households consuming iodized salt in South Sudan increased from 40% to 73%. Despite this achievement, there are still many goiter cases in rural South Sudan and iodine deficiency remains as a major public health problem in this part of sub Saharan Africa.The purpose of this study therefore was to determine the prevalence of iodine deficiency among rural Southern Sudan goiter patients. A cross-sectional study was carried out in three South Sudan counties, adults with goiter were from three centers following a mobilization campaign that lasted 4 weeks for free medical care. They were clinically evaluated and completed interviewer administered questionnaires to determine their age, gender, diet, family history, drug history, and medical history. Urine samples were then taken for urinary iodine levels. The outcome was iodine deficiency measured as urinary iodine less than 100 μg per/ L. Multiple logistic regression was used to establish the factors associated with iodine deficiency in South Sudan. Ethical approval was obtained. A total of 286 goitre patients were recruited. The mean age was 38 years (SD 9), 262(92%) were females (F: M ratio 11:1), and 257(90%) were rural- peasants, 25% (20/286) had moderate to severe iodine deficiency. 174(62%) consumed non-iodized salts. Iodine deficiency is highly prevalent among rural South Sudan communities and a likely cause for goiters. Rural poor women are highly vulnerable.

  18. Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23.

    Science.gov (United States)

    Bachinski, Linda L; Olufemi, Shodimu-Emmanuel; Zhou, Xiaojun; Wu, Chih-Chieh; Yip, Linwah; Shete, Sanjay; Lozano, Guillermina; Amos, Christopher I; Strong, Louise C; Krahe, Ralf

    2005-01-15

    Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. Most cases ( approximately 70%) identified and characterized to date are associated with dominantly inherited germ line mutations in the tumor suppressor gene TP53 (p53) in chromosome 17p13.1. In a subset of non-p53 patients with LFS, CHEK2 in chromosome 22q11 has been identified as another predisposing locus. Studying a series of non-p53 LFS kindred, we have shown that there is additional genetic heterogeneity in LFS kindred with inherited predisposition at loci other than p53 or CHEK2. Using a genome-wide scan for linkage with complementing parametric and nonparametric analysis methods, we identified linkage to a region of approximately 4 cM in chromosome 1q23, a genomic region not previously implicated in this disease. Identification ofa third predisposing gene and its underlying mutation(s) should provide insight into other genetic events that predispose to the genesis of the diverse tumor types associated with LFS and its variants.

  19. Combined analyses of data from quantitative trait locus mapping studies: Chromosome 4 effects on porcine growth and fatness

    NARCIS (Netherlands)

    Walling, G.A.; Visscher, P.M.; Andersson, L.; Rothschild, M.F.; Wang, L.; Moser, G.; Groenen, M.A.M.; Bidanel, J.P.; Cepia, S.; Archibald, A.L.; Gerldermann, H.; Koning, de D.J.

    2000-01-01

    For many species several similar QTL mapping populations have been produced and analyzed independently. Joint analysis of such data could be used to increase power to detect QTL and evaluate population differences. In this study, data were collated on almost 3000 pigs from seven different F2 crosses

  20. Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

    DEFF Research Database (Denmark)

    Shi, Jiajun; Zhang, Yanfeng; Zheng, Wei

    2016-01-01

    Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. A fine-mapping study across 2.06 Mb (chr8:127,561,724-129,624,067, hg19...

  1. Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPPIRI3L/iASPP

    DEFF Research Database (Denmark)

    Nexø, Bjørn A.; Vogel, Ulla Birgitte; Olsen, Anja

    2008-01-01

    mapping. The study groups included 434 postmenopausal breast cancer cases and an identical number of individually matched controls. Methods and Results: Studying one marker at a time, we found a region spanning the gene RAI ( alias PPP1R13L or iASPP) and the 5' portion of XPD to be associated...

  2. Expression Quantitative Trait Locus Mapping Studies in Mid-secretory Phase Endometrial Cells Identifies HLA-F and TAP2 as Fecundability-Associated Genes.

    Science.gov (United States)

    Burrows, Courtney K; Kosova, Gülüm; Herman, Catherine; Patterson, Kristen; Hartmann, Katherine E; Velez Edwards, Digna R; Stephenson, Mary D; Lynch, Vincent J; Ober, Carole

    2016-07-01

    Fertility traits in humans are heritable, however, little is known about the genes that influence reproductive outcomes or the genetic variants that contribute to differences in these traits between individuals, particularly women. To address this gap in knowledge, we performed an unbiased genome-wide expression quantitative trait locus (eQTL) mapping study to identify common regulatory (expression) single nucleotide polymorphisms (eSNPs) in mid-secretory endometrium. We identified 423 cis-eQTLs for 132 genes that were significant at a false discovery rate (FDR) of 1%. After pruning for strong LD (r2 >0.95), we tested for associations between eSNPs and fecundability (the ability to get pregnant), measured as the length of the interval to pregnancy, in 117 women. Two eSNPs were associated with fecundability at a FDR of 5%; both were in the HLA region and were eQTLs for the TAP2 gene (P = 1.3x10-4) and the HLA-F gene (P = 4.0x10-4), respectively. The effects of these SNPs on fecundability were replicated in an independent sample. The two eSNPs reside within or near regulatory elements in decidualized human endometrial stromal cells. Our study integrating eQTL mapping in a primary tissue with association studies of a related phenotype revealed novel genes and associated alleles with independent effects on fecundability, and identified a central role for two HLA region genes in human implantation success.

  3. Thyroid Sporadic Goiter with Adult Heterotopic Bone Formation

    Directory of Open Access Journals (Sweden)

    Adriana Handra-Luca

    2015-01-01

    Full Text Available Thyroid heterotopic bone formation (HBF in goiter is a rare finding. Five thyroid resection specimens were analyzed for HBF. The results were correlated with clinicomorphological features. All patients were women (33–82 years. The preoperative diagnosis was thyroid goiter or nodule. Treatment consisted in thyroidectomy and lobectomy (3 and 2, resp.. Microscopy showed sporadic nodular goiter. Malformative blood vessels and vascular calcifications were seen in intra- and extrathyroid location (5 and 3, resp.. The number and size of HBFs (total: 28 ranged between 1 and 23/thyroid gland (one bilateral and 1 and 10 mm, respectively. Twelve HBFs were in contact with the thyroid capsule. Most were extranodular (21, versus 6 intranodular. The medical history was positive for dyslipidemia, hyperglycemia, renal dysfunction, and hyperuricemia (2, 3, and 3 cases and 1 case, resp. without any parathyroid abnormality. In conclusion, thyroid HBF may be characterized by subcapsular or extranodular location, various size (usually ≥2 mm, and vascular calcifications and malformations. Features of metabolic syndrome and renal dysfunction may be present, but their exact role in the pathogenesis of HBFs remains to be elucidated.

  4. Fine mapping of S37, a locus responsible for pollen and embryo sac sterility in hybrids between Oryza sativa L. and O. glaberrima Steud.

    Science.gov (United States)

    Shen, Yumin; Zhao, Zhigang; Ma, Hongyang; Bian, Xiaofeng; Yu, Yang; Yu, Xiaowen; Chen, Haiyuan; Liu, Linglong; Zhang, Wenwei; Jiang, Ling; Zhou, Jiawu; Tao, Dayun; Wan, Jianmin

    2015-11-01

    Hybrid sterility locus S37 between Oryza glaberrima and Oryza sativa results in both pollen and embryo sac sterility. Interspecific crossing between African cultivated rice Oryza glaberrima and Oryza sativa cultivars is hindered by hybrid sterility. To dissect the mechanism of interspecific hybrid sterility, we developed a near-isogenic line (NIL)-S37 using Dianjingyou1 (DJY1) as the recipient parent and an African cultivated rice variety as the donor parent. Empty pollen and embryo sac sterility were observed in F1 hybrids between DJY1 and NIL-S37. Cytological analyses showed that pollen abortion in the F1 hybrids occurred at the late binucleate stage due to a failure of starch accumulation in pollen grains. In addition, partial abortion of the embryo sac in the F1 hybrid was observed during function megaspore developing into mature embryo sac. Molecular analysis revealed that the semi-sterility was largely caused by the abortion of male and female gametophytes carrying the S37 allele from DJY1. A population of 25,600 plants derived from the hybrid DJY1/NIL-S37 was developed to fine map S37. Based on the physical location of molecular markers, S37 locus was finally delimited to a region of 205 kb on the short arm of chromosome 1 in terms of reference sequences of cv. Nipponbare. Interestingly, an about 97-kb DNA segment was deleted in the NIL-S37 based on BAC clone information of O. glaberrima. Fifty-four open reading frames (ORF) were predicted in this 205-kb region of DJY1, whereas only 31 ORFs were in that of NIL-S37. These results are valuable for cloning of S37 gene and further breaking reproductive isolation between Oryza glaberrima and Oryza sativa cultivars, as well as marker-assisted transferring of the corresponding neutral allele in rice breeding programs.

  5. Quantitative Trait Locus Based Virulence Determinant Mapping of the HSV-1 Genome in Murine Ocular Infection: Genes Involved in Viral Regulatory and Innate Immune Networks Contribute to Virulence.

    Directory of Open Access Journals (Sweden)

    Aaron W Kolb

    2016-03-01

    Full Text Available Herpes simplex virus type 1 causes mucocutaneous lesions, and is the leading cause of infectious blindness in the United States. Animal studies have shown that the severity of HSV-1 ocular disease is influenced by three main factors; innate immunity, host immune response and viral strain. We previously showed that mixed infection with two avirulent HSV-1 strains (OD4 and CJ994 resulted in recombinants that exhibit a range of disease phenotypes from severe to avirulent, suggesting epistatic interactions were involved. The goal of this study was to develop a quantitative trait locus (QTL analysis of HSV-1 ocular virulence determinants and to identify virulence associated SNPs. Blepharitis and stromal keratitis quantitative scores were characterized for 40 OD4:CJ994 recombinants. Viral titers in the eye were also measured. Virulence quantitative trait locus mapping (vQTLmap was performed using the Lasso, Random Forest, and Ridge regression methods to identify significant phenotypically meaningful regions for each ocular disease parameter. The most predictive Ridge regression model identified several phenotypically meaningful SNPs for blepharitis and stromal keratitis. Notably, phenotypically meaningful nonsynonymous variations were detected in the UL24, UL29 (ICP8, UL41 (VHS, UL53 (gK, UL54 (ICP27, UL56, ICP4, US1 (ICP22, US3 and gG genes. Network analysis revealed that many of these variations were in HSV-1 regulatory networks and viral genes that affect innate immunity. Several genes previously implicated in virulence were identified, validating this approach, while other genes were novel. Several novel polymorphisms were also identified in these genes. This approach provides a framework that will be useful for identifying virulence genes in other pathogenic viruses, as well as epistatic effects that affect HSV-1 ocular virulence.

  6. Thyroid status and urinary iodine levels in women of endemic goiter area

    International Nuclear Information System (INIS)

    Bashir, S.; Shabbir, I.; Hussain, R.; Islam, M.U.; Aasim, M.

    2012-01-01

    Background: To determine the thyroid function tests and urinary iodine levels in women belonging to goiter endemic area. Study type and settings: Descriptive study conducted in women of goiter endemic area in Saggian Lahore. Subjects and Methods: Saggian Lahore is a goiter endemic area. A total of 293 women between the ages of 18-45 years residing in the area were clinically screened for goiter. Of them 73 women having goiter were recruited for the study. Information regarding demographic profile clinical presentation and physical examination of the goiter was recorded on a questionnaire. The goiter size was graded according to WHO, UNICEF and the International Council for the Control of Iodine Deficiency Disorder. About 5ml of blood sample was drawn from each women and run for thyroid function tests i.e. T3 T4 and TSH using Elisa kits (Human scientific Co. Germany). Urinary iodine was checked by chemical method. Results: Mean age of 73 women was 28.5 years. Marital status showed that 48(65.7%) were married and 25(34.3%) were unmarried. Visible diffuse goiter was seen in 56(77%) cases. Pressure symptoms as cough and shortness of breath was seen in 30(41%) and 31(42.5%) women respectively. Among the 73 women 24.6% (18 cases) took treatment for goiter. Adverse pregnancy outcome secondary to goiter was seen in 58% (28 cases) out of 48 married women. Thyroid function tests result showed that 72% (53 cases) were euthyroid, 18% (13 cases) were hypothyroid, and 10% (7 cases) were hyperthyroid. Urinary iodine levels showed that 99% women were iodine deficient. Conclusions: Thyroid functions do not indicate iodine deficiency in all cases of goiter, therefore, Urinary iodine levels need be estimated while investigating goiter cases. Policy message: Iodine deficiency should be diagnosed and treated on priority basis. (author)

  7. High density mapping and haplotype analysis of the major stem-solidness locus SSt1 in durum and common wheat

    Science.gov (United States)

    Nilsen, Kirby T.; N’Diaye, Amidou; MacLachlan, P. R.; Clarke, John M.; Ruan, Yuefeng; Cuthbert, Richard D.; Knox, Ron E.; Wiebe, Krystalee; Cory, Aron T.; Walkowiak, Sean; Beres, Brian L.; Graf, Robert J.; Clarke, Fran R.; Sharpe, Andrew G.; Distelfeld, Assaf; Pozniak, Curtis J.

    2017-01-01

    Breeding for solid-stemmed durum (Triticum turgidum L. var durum) and common wheat (Triticum aestivum L.) cultivars is one strategy to minimize yield losses caused by the wheat stem sawfly (Cephus cinctus Norton). Major stem-solidness QTL have been localized to the long arm of chromosome 3B in both wheat species, but it is unclear if these QTL span a common genetic interval. In this study, we have improved the resolution of the QTL on chromosome 3B in a durum (Kofa/W9262-260D3) and common wheat (Lillian/Vesper) mapping population. Coincident QTL (LOD = 94–127, R2 = 78–92%) were localized near the telomere of chromosome 3BL in both mapping populations, which we designate SSt1. We further examined the SSt1 interval by using available consensus maps for durum and common wheat and compared genetic to physical intervals by anchoring markers to the current version of the wild emmer wheat (WEW) reference sequence. These results suggest that the SSt1 interval spans a physical distance of 1.6 Mb in WEW (positions 833.4–835.0 Mb). In addition, minor QTL were identified on chromosomes 2A, 2D, 4A, and 5A that were found to synergistically enhance expression of SSt1 to increase stem-solidness. These results suggest that developing new wheat cultivars with improved stem-solidness is possible by combining SSt1 with favorable alleles at minor loci within both wheat species. PMID:28399136

  8. High-resolution mapping of a genetic locus regulating preferential carbohydrate intake, total kilocalories, and food volume on mouse chromosome 17.

    Directory of Open Access Journals (Sweden)

    Rodrigo Gularte-Mérida

    Full Text Available The specific genes regulating the quantitative variation in macronutrient preference and food intake are virtually unknown. We fine mapped a previously identified mouse chromosome 17 region harboring quantitative trait loci (QTL with large effects on preferential macronutrient intake-carbohydrate (Mnic1, total kilcalories (Kcal2, and total food volume (Tfv1 using interval-specific strains. These loci were isolated in the [C57BL/6J.CAST/EiJ-17.1-(D17Mit19-D17Mit50; B6.CAST-17.1] strain, possessing a ∼ 40.1 Mb region of CAST DNA on the B6 genome. In a macronutrient selection paradigm, the B6.CAST-17.1 subcongenic mice eat 30% more calories from the carbohydrate-rich diet, ∼ 10% more total calories, and ∼ 9% more total food volume per body weight. In the current study, a cross between carbohydrate-preferring B6.CAST-17.1 and fat-preferring, inbred B6 mice was used to generate a subcongenic-derived F2 mapping population; genotypes were determined using a high-density, custom SNP panel. Genetic linkage analysis substantially reduced the 95% confidence interval for Mnic1 (encompassing Kcal2 and Tfv1 from 40.1 to 29.5 Mb and more precisely established its boundaries. Notably, no genetic linkage for self-selected fat intake was detected, underscoring the carbohydrate-specific effect of this locus. A second key finding was the separation of two energy balance QTLs: Mnic1/Kcal2/Tfv1 for food intake and a newly discovered locus regulating short term body weight gain. The Mnic1/Kcal2/Tfv1 QTL was further de-limited to 19.0 Mb, based on the absence of nutrient intake phenotypes in subcongenic HQ17IIa mice. Analyses of available sequence data and gene ontologies, along with comprehensive expression profiling in the hypothalamus of non-recombinant, cast/cast and b6/b6 F2 controls, focused our attention on candidates within the QTL interval. Zfp811, Zfp870, and Btnl6 showed differential expression and also contain stop codons, but have no known biology

  9. Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPPIRI3L/iASPP

    DEFF Research Database (Denmark)

    Nexø, Bjørn A.; Vogel, Ulla Birgitte; Olsen, Anja

    2008-01-01

    mapping. The study groups included 434 postmenopausal breast cancer cases and an identical number of individually matched controls. Methods and Results: Studying one marker at a time, we found a region spanning the gene RAI ( alias PPP1R13L or iASPP) and the 5' portion of XPD to be associated...... with this cancer. The region corresponds to a haplotype block, in which there seems to be very limited recombination in the Danish population. Studying combinations of markers, we found that two to four neighboring markers gave the most consistent and strongest result. The haplotypes with strongest association...

  10. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

    DEFF Research Database (Denmark)

    Glubb, Dylan M; Maranian, Mel J; Michailidou, Kyriaki

    2015-01-01

    of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [i......CHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3......Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals...

  11. A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression.

    Science.gov (United States)

    Ahn, Jung; Won, Tae-Woong; Kaplan, Deborah E; Londin, Eric R; Kuzmic, Petr; Gelernter, Joel; Gruen, Jeffrey R

    2002-10-01

    Loci for several complex disorders have been genetically linked to markers located telomeric of the HLA class I region of the major histocompatibility complex on 6p21.3-22. However, this same region has been characterized by a large interval of recombination suppression with the potential to greatly complicate precise localization of these risk loci. Furthermore, a paucity of markers and physical mapping data has confounded precise localization of the boundaries of linkage and recombination suppression. In order to create a more detailed marker map of this region and define these boundaries we generated a minimal tiling pathway of BACs, PACs, and cosmids and a multiplexed panel of 29 short tandem repeat markers spanning 10 Mb. In addition to providing precise marker order and distances, the pathway and marker panel frame an inversion of recombination frequency that has distorted the resolution of linkage studies for 6p loci such as reading disability and others, and that should be accounted for in the design of future studies.

  12. Quantitative Trait Locus Mapping of Salt Tolerance and Identification of Salt-Tolerant Genes in Brassica napus L

    Directory of Open Access Journals (Sweden)

    Lina Lang

    2017-06-01

    Full Text Available Salinity stress is one of typical abiotic stresses that seriously limit crop production. In this study, a genetic linkage map based on 532 molecular markers covering 1341.1 cM was constructed to identify the loci associated with salt tolerance in Brassica napus. Up to 45 quantitative trait loci (QTLs for 10 indicators were identified in the F2:3 populations. These QTLs can account for 4.80–51.14% of the phenotypic variation. A major QTL, qSPAD5 on LG5 associated with chlorophyll can be detected in three replicates. Two intron polymorphic (IP markers in this QTL region were developed successfully to narrow down the QTL location to a region of 390 kb. A salt tolerance related gene Bra003640 was primary identified as the candidate gene in this region. The full length of the candidate gene was 1,063 bp containing three exons and two introns in B. napus L. The open reading frame (ORF is 867 bp and encodes 287 amino acids. Three amino acid differences (34, 54, and 83 in the conserved domain (B-box were identified. RT-qPCR analysis showed that the gene expression had significant difference between the two parents. The study laid great foundation for salt tolerance related gene mapping and cloning in B. napus L.

  13. Cultivar-Based Introgression Mapping Reveals Wild Species-Derived Pm-0, the Major Powdery Mildew Resistance Locus in Squash

    Science.gov (United States)

    Holdsworth, William L.; LaPlant, Kyle E.; Bell, Duane C.; Jahn, Molly M.; Mazourek, Michael

    2016-01-01

    Powdery mildew is a major fungal disease on squash and pumpkin (Cucurbita spp.) in the US and throughout the world. Genetic resistance to the disease is not known to occur naturally within Cucurbita pepo and only infrequently in Cucurbita moschata, but has been achieved in both species through the introgression of a major resistance gene from the wild species Cucurbita okeechobeensis subsp. martinezii. At present, this gene, Pm-0, is used extensively in breeding, and is found in nearly all powdery mildew-resistant C. pepo and C. moschata commercial cultivars. In this study, we mapped C. okeechobeensis subsp. martinezii-derived single nucleotide polymorphism (SNP) alleles in a set of taxonomically and morphologically diverse and resistant C. pepo and C. moschata cultivars bred at Cornell University that, by common possession of Pm-0, form a shared-trait introgression panel. High marker density was achieved using genotyping-by-sequencing, which yielded over 50,000 de novo SNP markers in each of the three Cucurbita species genotyped. A single 516.4 kb wild-derived introgression was present in all of the resistant cultivars and absent in a diverse set of heirlooms that predated the Pm-0 introgression. The contribution of this interval to powdery mildew resistance was confirmed by association mapping in a C. pepo cultivar panel that included the Cornell lines, heirlooms, and 68 additional C. pepo cultivars and with an independent F2 population derived from C. okeechobeensis subsp. martinezii x C. moschata. The interval was refined to a final candidate interval of 76.4 kb and CAPS markers were developed inside this interval to facilitate marker-assisted selection. PMID:27936008

  14. Fine mapping of shattering locus Br2 reveals a putative chromosomal inversion polymorphism between the two lineages of Aegilops tauschii.

    Science.gov (United States)

    Zhang, Zhengzhi; Zhu, Huilan; Gill, Bikram S; Li, Wanlong

    2015-04-01

    This work laid the foundation for cloning of shattering gene Br2 and provided first line of evidence that two major Aegilops tauschii lineages are differentiated by an inversion polymorphism. Chromosome inversions often accompany population differentiation and capture local adaptation during speciation. Aegilops tauschii, the D-genome donor species of hexaploid wheat, consists of two genetically isolated lineages, L1 and L2, but little is known about the genetic mechanisms underlying the population differentiation in this diploid species. During fine mapping of the shattering gene Br2 using a large F2 population derived from a cross between TA1604 (an L1 accession) and AL8/78 (an L2 accession), we found contrasting patterns of crossover distribution in the Br2 interval and neighboring regions despite the high local gene synteny with Brachypodium distachyon and rice. Br2 was localized in a 0.08-cM interval, and 13 marker loci formed a block, where single-crossovers were completely suppressed, but double-crossovers were enriched with a recombination rate of ~11 cM/Mb. In contrast, in a neighboring region no double-crossover was recovered, but single-crossover rate reached 24 cM/Mb, which is much higher than the genome-wide average. This result suggests a putative inversion polymorphism between the parental lines in the Br2 region. Genotyping using the markers from the Br2 region divided a collection of 55 randomly sampled A. tauschii accessions into two major groups, and they are largely genetically isolated. The two groups correspond to the L1 and L2 lineages based on their geographic distribution patterns. This provides first evidence that inversions may underlie the evolution of A. tauschii lineages. The presence of inter-lineage inversions may complicate map-based cloning in A. tauschii and transfer of useful traits to wheat.

  15. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.

    Science.gov (United States)

    Kwon, B S; Haq, A K; Pomerantz, S H; Halaban, R

    1987-01-01

    Screening of a lambda gt11 human melanocyte cDNA library with antibodies against hamster tyrosinase (monophenol, L-dopa:oxygen oxidoreductase, EC 1.14.18.1) resulted in the isolation of 16 clones. The cDNA inserts from 13 of the 16 clones cross-hybridized with each other, indicating that they were from related mRNA species. One of the cDNA clones, Pmel34, detected one mRNA species with an approximate length of 2.4 kilobases that was expressed preferentially in normal and malignant melanocytes but not in other cell types. The amino acid sequence deduced from the nucleotide sequence showed that the putative human tyrosinase is composed of 548 amino acids with a molecular weight of 62,610. The deduced protein contains glycosylation sites and histidine-rich sites that could be used for copper binding. Southern blot analysis of DNA derived from newborn mice carrying lethal albino deletion mutations revealed that Pmel34 maps near or at the c-albino locus, the position of the structural gene for tyrosinase. Images PMID:2823263

  16. A Pectin Methylesterase ZmPme3 Is Expressed in Gametophyte factor1-s (Ga1-s Silks and Maps to that Locus in Maize (Zea mays L.

    Directory of Open Access Journals (Sweden)

    Adrienne N. Moran Lauter

    2017-11-01

    Full Text Available The ga1 locus of maize confers unilateral cross incompatibility, preventing cross pollination between females carrying the incompatible Ga1-s allele and males not carrying a corresponding compatible allele. To characterize this system at the molecular level, we carried out a transcript profiling experiment in which silks from near isogenic lines carrying the Ga1-s and ga1 alleles were compared. While several differentially expressed genes were identified, only one mapped to the known location of ga1. This gene is a pectin methylesterase (PME, which we designated as ZmPme3, and is present and expressed only in Ga1-s genotypes. While a functional ZmPME3 is not present in the ga1 genotypes examined, a pectin methylesterase gene cluster is found in ga1 genotypes. The gene cluster in W22 contains 58 tandem full-length or partial PME pseudo genes. These data combined with a wealth of previously published data on the involvement of PMEs in pollen tube growth suggest a role for cell wall modification enzymes in the pollen exclusion component of Ga1-s gametophytic incompatibility. Consistent with this role, a third allele which lacks the female function of Ga1-s, Ga1-m, has a mutationally inactivated version of ZmPme3.

  17. Stressogenic aspects of diffuse toxic goiter relapse with signs of thyrotoxic myocar-dial dystrophy

    Directory of Open Access Journals (Sweden)

    Onyushkina N.Yu.

    2011-03-01

    Full Text Available Probability of relapse development of diffuse toxic goiter during the nearest two years after treatment is determined by its results and stressogenic capacity level, which is defined by Holmes and Rage method. As long as satisfactory treatment results and level of stressogenic capacity are above 300 points, the risk of diffuse toxic goiter relapse run to 68,5%

  18. Thyroidectomy improves tracheal anatomy and airflow in patients with nodular goiter. A prospective cohort study

    DEFF Research Database (Denmark)

    Sørensen, Jesper Roed; Lauridsen, Jeppe Killerich; Døssing, Helle

    Background: A large goiter may cause compression of the trachea and lead to respiratory insufficiency. We aimed at investigating the effects of thyroidectomy on tracheal anatomy and airflow in patients with benign nodular goiter, employing a prospective observational study. Methods: Magnetic reso...... improvement in tracheal compression, but only minor improvements in tracheal airflow. This information is pertinent when counselling patients before choice of treatment....

  19. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

    Science.gov (United States)

    Glubb, Dylan M; Maranian, Mel J; Michailidou, Kyriaki; Pooley, Karen A; Meyer, Kerstin B; Kar, Siddhartha; Carlebur, Saskia; O'Reilly, Martin; Betts, Joshua A; Hillman, Kristine M; Kaufmann, Susanne; Beesley, Jonathan; Canisius, Sander; Hopper, John L; Southey, Melissa C; Tsimiklis, Helen; Apicella, Carmel; Schmidt, Marjanka K; Broeks, Annegien; Hogervorst, Frans B; van der Schoot, C Ellen; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Fasching, Peter A; Ruebner, Matthias; Ekici, Arif B; Beckmann, Matthias W; Peto, Julian; dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Pharoah, Paul D P; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Sawyer, Elinor J; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Burwinkel, Barbara; Marme, Frederik; Yang, Rongxi; Surowy, Harald; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig E; Nordestgaard, Børge G; Nielsen, Sune F; Flyger, Henrik; González-Neira, Anna; Benitez, Javier; Zamora, M Pilar; Arias Perez, Jose Ignacio; Anton-Culver, Hoda; Neuhausen, Susan L; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volker; Stegmaier, Christa; Meindl, Alfons; Schmutzler, Rita K; Brauch, Hiltrud; Ko, Yon-Dschun; Brüning, Thomas; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Tanaka, Hideo; Dörk, Thilo; Bogdanova, Natalia V; Helbig, Sonja; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Wu, Anna H; Tseng, Chiu-chen; Van Den Berg, David; Stram, Daniel O; Lambrechts, Diether; Zhao, Hui; Weltens, Caroline; van Limbergen, Erik; Chang-Claude, Jenny; Flesch-Janys, Dieter; Rudolph, Anja; Seibold, Petra; Radice, Paolo; Peterlongo, Paolo; Barile, Monica; Capra, Fabio; Couch, Fergus J; Olson, Janet E; Hallberg, Emily; Vachon, Celine; Giles, Graham G; Milne, Roger L; McLean, Catriona; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Simard, Jacques; Goldberg, Mark S; Labrèche, France; Dumont, Martine; Teo, Soo Hwang; Yip, Cheng Har; See, Mee-Hoong; Cornes, Belinda; Cheng, Ching-Yu; Ikram, M Kamran; Kristensen, Vessela; Zheng, Wei; Halverson, Sandra L; Shrubsole, Martha; Long, Jirong; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Kauppila, Saila; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Tchatchou, Sandrine; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline; Van Asperen, Christi J; García-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Czene, Kamila; Klevebring, Daniel; Darabi, Hatef; Eriksson, Mikael; Hooning, Maartje J; Hollestelle, Antoinette; Martens, John W M; Collée, J Margriet; Hall, Per; Li, Jingmei; Humphreys, Keith; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Cox, Angela; Cross, Simon S; Reed, Malcolm W R; Blot, William; Signorello, Lisa B; Cai, Qiuyin; Shah, Mitul; Ghoussaini, Maya; Kang, Daehee; Choi, Ji-Yeob; Park, Sue K; Noh, Dong-Young; Hartman, Mikael; Miao, Hui; Lim, Wei Yen; Tang, Anthony; Hamann, Ute; Torres, Diana; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Olswold, Curtis; Slager, Susan; Toland, Amanda E; Yannoukakos, Drakoulis; Shen, Chen-Yang; Wu, Pei-Ei; Yu, Jyh-Cherng; Hou, Ming-Feng; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; Pita, Guillermo; Alonso, M Rosario; Álvarez, Nuria; Herrero, Daniel; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Luccarini, Craig; Baynes, Caroline; Ahmed, Shahana; Healey, Catherine S; Brown, Melissa A; Ponder, Bruce A J; Chenevix-Trench, Georgia; Thompson, Deborah J; Edwards, Stacey L; Easton, Douglas F; Dunning, Alison M; French, Juliet D

    2015-01-08

    Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER(+): odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, ptrend = 5.7 × 10(-44)) and estrogen-receptor-negative (ER(-): OR = 1.10, 95% CI = 1.05-1.15, ptrend = 3.0 × 10(-4)) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [pcond = 1.61 × 10(-5)]) and five variants composing iCHAV3 (lead rs11949391; ER(+): OR = 0.90, 95% CI = 0.87-0.93, pcond = 1.4 × 10(-4)). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All

  20. Mapping the end points of large deletions affecting the hprt locus in human peripheral blood cells and cell lines

    International Nuclear Information System (INIS)

    Nelson, S.L.; Grosovsky, A.J.; Jones, I.M.; Burkhart-Schultz, K.; Fuscoe, J.C.

    1995-01-01

    We have examined the extent of of HPRT - total gene deletions in three mutant collections: spontaneous and X-ray-induced deletions in TK6 human B lymphoblasts, and HPRT - deletions arising in vivo in T cells. A set of 13 Xq26 STS markers surrounding hprt and spanning approximately 3.3 Mb was used. Each marker used was observed to be missing in at least one of the hprt deletion mutants analyzed. The largest deletion observed encompassed at least 3 Mb. Nine deletions extended outside of the mapped region in the centromeric direction (>1.7 Mb). In contrast, only two telomeric deletions extended to marker 342R (1.26 Mb), and both exhibited slowed or limited cell growth. These data suggest the existence of a gene, within the vicinity of 342R, which establishes the telomeric limit of recoverable deletions. Most (25/41) X-ray-induced total gene deletion mutants exhibited marker loss, but only 1/8 of the spontaneous deletions encompassed any Xq26 markers (P = 0.0187). Furthermore, nearly half (3/8) of the spontaneous 3' total deletion breakpoints were within 14 kb of the hprt coding sequence. In contrast, 40/41 X-ray-induced HPRT - total deletions extended beyond this point (P = 0.011). Although the overall representation of total gene deletions in the in vivo spectrum is low, 4/5 encompass Xq26 markers flanking hprt. This pattern differs significantly from spontaneous HPRT - large deletions occurring in vitro (P = 0.032) but resembles the spectrum of X-ray-induced deletions. 24 refs., 6 figs., 1 tab

  1. Thyroidectomy improves quality of life in patients with euthyroid nodular goiter – a prospective cohort study

    DEFF Research Database (Denmark)

    Sørensen, Jesper Roed; Watt, Torquil; Cramon, Per

    Background: Using the thoroughly validated ThyPRO-questionnaire, we aimed at investigating changes in disease-specific quality of life (QoL), associated with surgical treatment in patients with euthyroid multinodular goiter. Method: Patients with euthyroid goiter scheduled for thyroid surgery were...... through April 2016. Before surgery, patients with goiter experienced poorer scores on all scales compared to the general population. After surgery, moderate to large improvements were seen in Goiter Symptoms (ES: 1.52), Tiredness (ES: 0.60), Anxiety (ES: 0.54), and Overall QoL (ES: 0.74). The remaining...... scales either experienced no change or small changes (ES:0.00-0.50). Post-surgery, with exception a reduced level of Anxiety, all scales returned to values similar to the general population.Conclusion: Thyroid surgery leads to significant benefit among patients with euthyroid goiter, and restores Qo...

  2. Goiter Survey among School Children (6–12 Years in Northern Himalayan Region

    Directory of Open Access Journals (Sweden)

    S Muhammad Salim Khan

    2017-01-01

    Full Text Available Background: Deficiency of iodine results in impairment of thyroid hormone synthesis and abnormalities grouped under the heading of “iodine deficiency disorders (IDDs.” Goiter surveys are conducted to estimate the region's iodine status. In view of this, we conducted this goiter survey among school-going children of district Baramulla, Kashmir division, to see the prevalence of IDD. Materials and Methods: This cross-sectional study was conducted among 6–12 years children in district Baramulla during the month of March and April 2017. The sample size of 2700 was calculated. The assessment of goiter was performed clinically by inspection and palpation of the thyroid gland. Results: In this study, we studied a total of 2700 school children in the age group of 6–12 years from district Baramulla with a mean age of 9 ± 1.86 years. 50.07% were boys. The age distribution prevalence of goiter among school children (6–12 years in district Baramulla was observed to be 15.29%. The prevalence of Grade 1 goiter was more than twentyfold higher than Grade 2 goiter. The highest prevalence of Grade 1 and 2 goiter was seen among school children of 12 years age (25.19% and 1.81%, respectively. Females have higher prevalence of Grade 1 and Grade 2 goiter (17.58%. The relationship of goiter prevalence with gender and age was statistically significant. Conclusion: The present study showed mild goiter prevalence in school-aged children of 6–12 years in the district Baramulla of Kashmir valley. There is a dire need of periodic surveys to assess the magnitude of the IDD in the future.

  3. Positional mapping and candidate gene analysis of the mouse Ccs3 locus that regulates differential susceptibility to carcinogen-induced colorectal cancer.

    Directory of Open Access Journals (Sweden)

    Charles Meunier

    Full Text Available The Ccs3 locus on mouse chromosome 3 regulates differential susceptibility of A/J (A, susceptible and C57BL/6J (B6, resistant mouse strains to chemically-induced colorectal cancer (CRC. Here, we report the high-resolution positional mapping of the gene underlying the Ccs3 effect. Using phenotype/genotype correlation in a series of 33 AcB/BcA recombinant congenic mouse strains, as well as in groups of backcross populations bearing unique recombinant chromosomes for the interval, and in subcongenic strains, we have delineated the maximum size of the Ccs3 physical interval to a ∼2.15 Mb segment. This interval contains 12 annotated transcripts. Sequencing of positional candidates in A and B6 identified many either low-priority coding changes or non-protein coding variants. We found a unique copy number variant (CNV in intron 15 of the Nfkb1 gene. The CNV consists of two copies of a 54 bp sequence immediately adjacent to the exon 15 splice site, while only one copy is found in CRC-susceptible A. The Nfkb1 protein (p105/p50 expression is much reduced in A tumors compared to normal A colonic epithelium as analyzed by immunohistochemistry. Studies in primary macrophages from A and B6 mice demonstrate a marked differential activation of the NfκB pathway by lipopolysaccharide (kinetics of stimulation and maximum levels of phosphorylated IκBα, with a more robust activation being associated with resistance to CRC. NfκB has been previously implicated in regulating homeostasis and inflammatory response in the intestinal mucosa. The interval contains another positional candidate Slc39a8 that is differentially expressed in A vs B6 colons, and that has recently been associated in CRC tumor aggressiveness in humans.

  4. A new three-locus model for rootstock-induced dwarfing in apple revealed by genetic mapping of root bark percentage

    Science.gov (United States)

    Harrison, Nicola; Harrison, Richard J.; Barber-Perez, Nuria; Cascant-Lopez, Emma; Cobo-Medina, Magdalena; Lipska, Marzena; Conde-Ruíz, Rebeca; Brain, Philip; Gregory, Peter J.; Fernández-Fernández, Felicidad

    2016-01-01

    Rootstock-induced dwarfing of apple scions revolutionized global apple production during the twentieth century, leading to the development of modern intensive orchards. A high root bark percentage (the percentage of the whole root area constituted by root cortex) has previously been associated with rootstock-induced dwarfing in apple. In this study, the root bark percentage was measured in a full-sib family of ungrafted apple rootstocks and found to be under the control of three loci. Two quantitative trait loci (QTLs) for root bark percentage were found to co-localize to the same genomic regions on chromosome 5 and chromosome 11 previously identified as controlling dwarfing, Dw1 and Dw2, respectively. A third QTL was identified on chromosome 13 in a region that has not been previously associated with dwarfing. The development of closely linked sequence-tagged site markers improved the resolution of allelic classes, thereby allowing the detection of dominance and epistatic interactions between loci, with high root bark percentage only occurring in specific allelic combinations. In addition, we report a significant negative correlation between root bark percentage and stem diameter (an indicator of tree vigour), measured on a clonally propagated grafted subset of the mapping population. The demonstrated link between root bark percentage and rootstock-induced dwarfing of the scion leads us to propose a three-locus model that is able to explain levels of dwarfing from the dwarf ‘M.27’ to the semi-invigorating rootstock ‘M.116’. Moreover, we suggest that the QTL on chromosome 13 (Rb3) might be analogous to a third dwarfing QTL, Dw3, which has not previously been identified. PMID:26826217

  5. Shot-gun proteome and transcriptome mapping of the jujube floral organ and identification of a pollen-specific S-locus F-box gene

    Directory of Open Access Journals (Sweden)

    Ruihong Chen

    2017-07-01

    Full Text Available The flower is a plant reproductive organ that forms part of the fruit produced as the flowering season ends. While the number and identity of proteins expressed in a jujube (Ziziphus jujuba Mill. flower is currently unknown, integrative proteomic and transcriptomic analyses provide a systematic strategy of characterizing the floral biology of plants. We conducted a shotgun proteomic analysis on jujube flowers by using a filter-aided sample preparation tryptic digestion, followed by liquid chromatography-tandem mass spectrometry (LC-MS/MS. In addition, transcriptomics analyses were performed on HiSeq2000 sequencers. In total, 7,853 proteins were identified accounting for nearly 30% of the ‘Junzao’ gene models (27,443. Genes identified in proteome generally showed higher RPKM (reads per kilobase per million mapped reads values than undetected genes. Gene ontology categories showed that ribosomes and intracellular organelles were the most dominant classes and accounted for 17.0% and 14.0% of the proteome mass, respectively. The top-ranking proteins with iBAQ >1010 included non-specific lipid transfer proteins, histones, actin-related proteins, fructose-bisphosphate aldolase, Bet v I type allergens, etc. In addition, we identified one pollen-specificity S-locus F-box-like gene located on the same chromosome as the S-RNase gene. Both of these may activate the behaviour of gametophyte self-incompatibility in jujube. These results reflected the protein profile features of jujube flowers and contributes new information important to the jujube breeding system.

  6. High-resolution meiotic and physical mapping of the Best`s vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11

    Energy Technology Data Exchange (ETDEWEB)

    Weber, B.H.F.; Vogt, G. [Institut fuer Humangenetik, Wuerzburg (Germany); Walker, D. [UBC, Vancouver (Canada)] [and others

    1994-09-01

    Vitelliform macular dystrophy, also known as Best`s disease, is a juvenile-onset macular degeneration with autosomal dominant inheritance. It is characterized by well-demarcated accumulation of lipofuscin-like material within and beneath the retinal pigment epithelium (RPE) and classically results in an egg yolk-like appearance of the macula. Typically, carriers of the disease gene show a specific electrophysiological sign which can be detected by electrooculography (EOG). The EOG measures a standing potential between the cornea and the retina which is primarily generated by the RPE. The histopathological findings as well as the EOG abnormalities suggest that Best`s disease is a generalized disorder of the RPE. The basic biochemical defect is still unknown. As a first step in the positional cloning of the defective gene, the Best`s disease locus was mapped to chromosome 11 between markers at D11S871 and INT2. Subsequently, his region was refined to a 3.7 cM interval flanked by loci D11S903 and PYGM. To further narrow the D11S903-PYGM interval and to obtain an estimate of the physical size of the minimal candidate region, we used a combination of high-resolution PCR hybrid mapping and analysis of recombinant Best`s disease chromosomes. We identified six markers from within the D11S903-PYGM interval that show no recombination with the defective gene in three multigeneration Best`s disease pedigrees. Our hybrid panel localizes these markers on either side of the centromere on chromosome 11. The closest markers flanking the disease gene are at D11S986 in band p12-11.22 and at D11S480 in band q13.2-13.3. Our study demonstrates that the physical size of the Best`s disease region is exceedingly larger than was previously estimated from the genetic data due to the proximity of the defective gene to the centromere of chromosome 11.

  7. Goiter in paintings by Rogier van der Weyden (1399-1464).

    Science.gov (United States)

    Lazzeri, Davide; Pozzilli, Paolo; Zhang, Yi Xin; Persichetti, Paolo

    2015-05-01

    Figures affected by goiter were only sparsely depicted by Peter Paul Rubens and Albrecht Dürer among Flemish artists, because obvious goiter was not common in regions such as the Netherlands and Belgium. However, the recent observation of two figures with a goiter elegantly depicted by Rogier van der Weyden has raised our interest in this topic. When taking a close look at the paintings of this Flemish Renaissance painter, it is interesting to note that 16 portrayed subjects show an abnormal profile of the neck with swelling, suggestive of a presumptive medico-artistic diagnosis of goiter. Van der Weyden travelled to Italy where he soon acquired great fame and was second only to the other Flemish painter of the time, Jan Van Eyck. It is very likely that in Italy he had the opportunity to look at several female figures depicted with goiter, which may have influenced his paintings. Van der Weyden was appreciated because of his style to mix realistic details with idealized softened features to increase the beauty and appeal of his models. It is also likely that the integration of the goiter may have been part of the Renaissance tendency toward a more realistic and precise representation of subjects. The fact that in almost all cases the goiter was a low-to-moderate grade enlargement of the thyroid may confirm our speculation that perhaps the painter used the same model or the template derived from one model for subsequent paintings.

  8. Combination therapy of temporary tracheal stenting and radiofrequency ablation for multinodular thyroid goiter with airway compression

    International Nuclear Information System (INIS)

    Shin, Ji Hoon; Beak, Jung Hwan; Oh, Yeon Mok; Ha, Eun Ju; Lee, Jeong Hyun

    2013-01-01

    We report a case of multinodular thyroid goiter in an 80-year-old man who successfully underwent tracheal stent placement for respiratory distress caused by the thyroid goiter and following two radiofrequency (RF) ablation sessions performed for thyroid volume reduction. This sequential treatment allowed elective stent removals four weeks after the second RF ablation session because the thyroid volume had been progressively reduced. Combination therapy of temporary airway stenting and RF ablation for the treatment of thyroid goiter has two advantages, i.e., immediate reliefs of dyspnea with airway stenting and reductions of the thyroid volume with RF ablation, and thus, allowing symptom reliefs even after the stent removals.

  9. Combination therapy of temporary tracheal stenting and radiofrequency ablation for multinodular thyroid goiter with airway compression

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Ji Hoon; Beak, Jung Hwan; Oh, Yeon Mok; Ha, Eun Ju; Lee, Jeong Hyun [University of Ulsan College of Medicine, Asan Medical Center, Seoul (Korea, Republic of)

    2013-10-15

    We report a case of multinodular thyroid goiter in an 80-year-old man who successfully underwent tracheal stent placement for respiratory distress caused by the thyroid goiter and following two radiofrequency (RF) ablation sessions performed for thyroid volume reduction. This sequential treatment allowed elective stent removals four weeks after the second RF ablation session because the thyroid volume had been progressively reduced. Combination therapy of temporary airway stenting and RF ablation for the treatment of thyroid goiter has two advantages, i.e., immediate reliefs of dyspnea with airway stenting and reductions of the thyroid volume with RF ablation, and thus, allowing symptom reliefs even after the stent removals.

  10. No link between X chromosome inactivation pattern and simple goiter in females

    DEFF Research Database (Denmark)

    Brix, Thomas Heiberg; Hansen, Pia Skov; Knudsen, Gun Peggy S

    2009-01-01

    BACKGROUND: Simple goiter (SG) comprises diffuse (DG) and nodular (NG) benign nonautoimmune nontoxic goiter. In nonendemic goiter areas, the ratio of females to males may exceed 5:1, indicating that gender and/or sex hormones may play a role in the etiology of SG in these areas. Theoretically...... healthy control twin individuals, and then performed a within-pair comparison of XCI in 48 twin pairs discordant for SG. METHODS: DNA was extracted from peripheral blood cells. XCI analysis was performed by predigestion of DNA using the methylation-sensitive enzyme Hpall, followed by polymerase chain...

  11. F-18-FDG-PET in autonomous goiter

    International Nuclear Information System (INIS)

    Boerner, A.R.; Voth, E.; Schicha, H.

    1999-01-01

    Aim: Gain-of-function mutations of the thyrotropin receptor (TSHR) gene have been invoked as one of the major causes of toxic thyroid adenomas. This study evaluates F-18-FDG-PET in these patients. Methods: Twenty patients with focal autonomous nodules and ten with disseminated autonomy were investigated the day before radioiodine therapy. Twenty patients with cancer of the head or neck and normal thyroid function served as controls. Results: F-18-FDG-Uptake was higher in patients than in controls. Focal autonomous nodules were associated with focally enhanced glucose metabolism. Disseminated autonomous goiters showed various patterns of focal or global hypermetabolism. Conclusion: Autonomous thyroid tissue caused by constitutive mutations of the TSH receptor is characterised by simultaneous increases in glucose and iodine metabolism which are correlated. (orig.) [de

  12. Prophylaxis of postoperative hypocalcemia in patients with diffuse toxic goiter

    Directory of Open Access Journals (Sweden)

    M. B. Gudieva

    2016-01-01

    Full Text Available In recent years, the surgical treatment of DTG includes extirpation of the thyroid gland that can lead to the development of postoperative hypocalcemia, which causes of development are under study. Up to now, there are no clear recommendations for prophylaxis of postoperative hypocalcemia. In this connection, it is actually to carry out additional research to explore the methods of prophylaxis of postoperative hypocalcemia. The study involved 57 patients with diffuse toxic goiter, who had extirpation of the thyroid gland in period from 2010 until 2015. According to results of the performed study, it has been shown that prophylactic administration of preparations of calcium and vitamin D reduces the risk of postoperative hypocalcemia for patients with vitamin D deficiency.

  13. Quality of life in patients with benign nontoxic goiter

    DEFF Research Database (Denmark)

    Cramon, Per; Bonnema, Steen Joop; Bjørner, Jakob

    2015-01-01

    BACKGROUND: While health-related quality of life (HRQoL) issues often prompt treatment of benign nontoxic goiter (NTG), few clinical studies have systematically assessed HRQoL in patients with this condition. The purpose of the present study was to evaluate thyroid-related and generic HRQo......, sex, comorbidity, and educational status. Changes in scores between baseline and follow-up were analyzed with the paired t-test, and magnitudes of score changes were evaluated as effect sizes (mean difference/SDbaseline; 0.2-0.5 indicating small, 0.5-0.8 moderate, and >0.8 large effects). RESULTS......L in patients with benign NTG, as compared to the general population, before and six months after treatment. METHODS: Thyroid-related and generic HRQoL were assessed with Thyroid Patient-Reported Outcome (ThyPRO) and Medical Outcomes Study 36-item Short Form (SF-36), respectively. Baseline and six-month post...

  14. Thyrotropinoma and multinodular goiter: A diagnostic challenge for hyperthyroidism

    Directory of Open Access Journals (Sweden)

    Duygu Yazgan Aksoy

    2013-01-01

    Full Text Available Thyroid disorders are frequently encountered. The diagnosis is straightforward unless clinical or laboratory findings are inconclusive and/or perplexing. Hyperthyroidism due to a thyrotropin-secreting pituitary adenoma rarely occurs and symptoms due to thyroid hormone excess are subtle. The presentation of the disease becomes unusual when co-secretion of other hormones with thyrotropin or concomitant thyroid parenchymal pathology exist. We present the case of a 63-year-old female patient with thyrotropinoma co-secreting growth hormone and multinodular goiter. She developed hyperthyroidism first due to thyrotropinoma and later due to a toxic nodule. Herein, we discuss the diagnostic and therapeutic challenges of hyperthyroidism with atypical presentation.

  15. Toxic nodular goiter and cancer: a compelling case for thyroidectomy.

    Science.gov (United States)

    Smith, J Joshua; Chen, Xi; Schneider, David F; Nookala, Ratnam; Broome, James T; Sippel, Rebecca S; Chen, Herbert; Solorzano, Carmen C

    2013-04-01

    Recent American Thyroid Association guidelines call for thyroidectomy or (131)I (Recommendation 31) in managing hyperthyroidism due to toxic nodular goiter (TNG). Concern for concomitant malignancy favors surgery. A 3 % thyroid cancer incidence in TNG patients has been reported, yet recent studies suggest this rate is underestimated. This multi-institutional study examined cancer incidence in TNG patients referred to surgery. Patients referred for thyroidectomy at three tertiary-care institutions were included (2002-2011). Patients with concurrent indeterminate or malignant diagnosis by fine-needle aspiration (FNA) were excluded. Cancer incidence in TNG patients was determined. Fisher's exact and chi-square tests and nonparametric t tests were used. Among 2,551 surgically treated patients, 164 had TNG (6.4 %). Median age at presentation was 49.7 years, and 86 % were female. Overall cancer incidence was 18.3 % (30 of 164), and rates were not significantly different between institutions. A significantly greater cancer rate was noted in toxic multinodular goiter versus single toxic nodule patients (21 vs. 4.5 %, P  0.05). No significant cancer association was noted with age, preoperative dominant nodule size, lymphocytic thyroiditis or preoperative FNA (P > 0.05). These data demonstrate a higher than expected incidental cancer rate in TNG patients compared to historical reports (18.3 vs. 3 %). This higher cancer incidence may alter the risk/benefit analysis regarding TNG treatment. This information should be provided to TNG patients before decision making regarding treatment.

  16. Quality of life after thyroidectomy in patients with nontoxic nodular goiter

    DEFF Research Database (Denmark)

    Sorensen, Jesper Roed; Watt, Torquil; Cramon, Per

    2017-01-01

    BACKGROUND: Using the thoroughly validated Thyroid-Related Quality-of-Life Patient-Reported Outcome (ThyPRO) questionnaire, the purpose of this study was to investigate changes in disease-specific quality of life (QOL) after surgical treatment in patients with benign nontoxic multinodular goiters....... METHOD: Patients with goiters scheduled for thyroid surgery (n = 106) and individuals from the general population (n = 739) were studied. The ThyPRO data before, 3 months, and 6 months after surgery were compared with normative scores from the general population using a linear mixed model and t tests....... RESULTS: Before surgery, patients with goiters experienced poorer scores on all scales compared to the general population. After surgery, moderate to large improvements were seen in goiter symptoms, tiredness, anxiety, and overall QOL. After surgery, all scales returned to values equal to the general...

  17. Medical geology of endemic goiter in Kalutara, Sri Lanka; distribution and possible causes.

    Science.gov (United States)

    Fernando, G W A R; Liyanage, P L C L; Rajapaksha, Anushka Upamali; Vithanage, Meththika

    2017-12-01

    This study assesses the distribution of goiter in the Kalutara District, Sri Lanka in order to find causative factors for the occurrence of goiter even after the salt iodization. A questionnaire survey was conducted at the household level and at the same time iodine and selenium levels of the water sources were analyzed. Questionnaire survey results indicated the highest numbers of goiter patients in the northern part where the lowest were found in the southern sector which may be due to the presence of acid sulfate soils. Females were more susceptible and it even showed a transmittance between generations. Average iodine concentrations in subsurface water of goiter endemic regions are 28.25 ± 15.47 μg/L whereas non-goiter regions show identical values at 24.74 ± 18.29 μg/L. Surface water exhibited relatively high values at 30.87 ± 16.13 μg/L. Endemic goiter was reported in some isolated patches where iodine and selenium concentrations low, latter was <10 μg/L. The formation of acid sulfate soils in the marshy lands in Kalutara district may lead to transformation of biological available iodine oxidation into volatile iodine by humic substances, at the same time organic matter rich peaty soil may have strong held of iodine and selenium which again induced by low pH and high temperature were suggested as the instrumental factors in the endemic goiter in Kalutara district. Hence, geochemical features such as soil pH, organic matter and thick lateritic cap in the Kalutara goiter endemic area play a role in controlling the available selenium and iodine for food chain through plant uptake and in water.

  18. Thyroidectomy improves tracheal anatomy and airflow in patients with nodular goiter

    DEFF Research Database (Denmark)

    Sørensen, Jesper Roed; Lauridsen, Jeppe Killerich; Døssing, Helle

    Objectives: A large goiter may cause compression of the trachea and lead to respiratory insufficiency. We aimed at investigating the effects of thyroidectomy on tracheal anatomy and airflow in patients with benign nodular goiter, employing a prospective observational study. Methods: Magnetic reso...... to substantial improvement in tracheal compression, but only minor improvements in tracheal airflow. This information is pertinent when counselling patients before choice of treatment....

  19. Goiter associated with acromegaly: sonographic and scintigraphic findings of the thyroid gland.

    Science.gov (United States)

    Kasagi, K; Shimatsu, A; Miyamoto, S; Misaki, T; Sakahara, H; Konishi, J

    1999-08-01

    Elevation in serum human growth hormone (GH) level is known to be a factor that causes goiter development. The present study was designed to analyze sonographic and scintigraphic appearances of the thyroid in patients with acromegaly. The records of 48 consecutive patients with acromegaly were examined. Two patients had a history of operation for thyroid cancer. One had an atrophic thyroid gland after 131I treatment for Graves' disease. Goiter was palpable in 39 of the remaining 45 patients. Neither ultrasonography (US) nor scintigraphy was performed in 17 patients, including 6 with no palpable goiter and 11 with small diffuse goiter (group 1). Of the remaining 28 patients who underwent US, 14 had a moderately or markedly enlarged diffuse goiter (group 2), 13 were diagnosed as having adenomatous goiter (group 3), and 1 had a solitary cystic nodule. Among 11 patients in group 3 who underwent 123I or 99mTc thyroid scintigraphy, 6 showed uneven uptake, and 2 with undetectably reduced levels of thyrotropin (TSH) showed localized functioning areas. The mean serum TSH concentration in group 3 was significantly lower than that in group 1 or 2 (pillness as acromegaly was significantly longer in group 2 and 3 as compared with group 1 (pthyroid follicular cells might be responsible for thyroid enlargement, presence of functioning lesions, slight overactivity of the thyroid, and the subsequent formation of multiple nodules in acromegalic patients. In conclusion, excluding two patients with thyroid cancer and one with Graves' disease, goiter was palpable in 39 of the 45 patients with acromegaly, among whom 14 (13 adenomatous goiters and 1 solitary cystic nodule) showed nodular enlargement.

  20. Allelism analysis of BrRfp locus in different restorer lines and map-based cloning of a fertility restorer gene, BrRfp1, for pol CMS in Chinese cabbage (Brassica rapa L.).

    Science.gov (United States)

    Zhang, Huamin; Wu, Junqing; Dai, Zihui; Qin, Meiling; Hao, Lingyu; Ren, Yanjing; Li, Qingfei; Zhang, Lugang

    2017-03-01

    In Chinese cabbage, there are two Rf loci for pol CMS and one of them was mapped to a 12.6-kb region containing a potential candidate gene encoding PPR protein. In Chinese cabbage (Brassica rapa), polima cytoplasmic male sterility (pol CMS) is an important CMS type and is widely used for hybrid breeding. By extensive test crossing in Chinese cabbage, four restorer lines (92s105, 01s325, 00s109, and 88s148) for pol CMS were screened. By analyzing the allelism of the four restorer lines, it was found that 92s105, 01s325, and 00s109 had the same "restorers of fertility" (Rf) locus (designated as BrRfp1), but 88s148 had a different Rf locus (designated as BrRfp2). For fine mapping the BrRfp1 locus of 92s105, a BC 1 F 1 population with 487 individuals and a BC 1 F 2 population with 2485 individuals were successively constructed. Using simple sequence repeat (SSR) markers developed from Brassica rapa reference genome and InDel markers derived from whole-genome resequencing data of 94c9 and 92s105, BrRfp1 was mapped to a 12.6-kb region containing a potential candidate gene encoding pentatricopeptide repeat-containing protein. Based on the nucleotide polymorphisms of the candidate gene sequence between the restoring and nonrestoring alleles, a co-segregating marker SC718 was developed, which would be helpful for hybrid breeding by marker-assisted screening and for detecting new restorer lines.

  1. Phonatory symptoms and impact on quality of life in female patients with goiter.

    Science.gov (United States)

    Hamdan, Abdul-Latif; Dowli, Alexander; Jabbour, Jad; Sabri, Alain; Azar, Sami T

    2016-07-01

    Our objective is to report on the prevalence of phonatory symptoms and impact on quality of life in a group of female patients with goiter who had not been selected for surgery or who had not presented to the emergency room with respiratory distress. A total of 40 patients with goiter and 14 controls were enrolled in this study. Demographic data included age, sex, laryngopharyngeal reflux disease, allergy, smoking, duration of disease, presence or absence of compressive symptoms, presence or absence of thyroid gland nodules, vascular status, presence or absence of calcifications, and thyroid-stimulating hormone levels. Phonatory symptoms included hoarseness, vocal fatigue, vocal straining, lump sensation, and aphonia. The Voice Handicap Index 10 was used to assess the impact of phonatory symptoms on quality of life. The most common phonatory symptom in the patients with goiter was vocal fatigue followed by lump sensation. The only phonatory symptom that was significantly more present in patients with goiter was vocal straining. As for the impact of phonatory symptoms on quality of life, 15.8% of goiter patients had a Voice Handicap Index score >7 compared with 7.7% of controls. Phonatory symptoms are common in patients with goiter, with vocal straining occurring significantly more frequently than in controls. In 1 of 6 patients, the presence of phonatory symptoms had an impact on quality of life.

  2. Epidemiology of goiter and benign tumors of the thyroid gland in Albania.

    Science.gov (United States)

    Bruka, Ibrahim; Gjata, Arben; Roshi, Enver

    2014-08-01

    The aim of this study was to describe the demographic characteristics and disease patterns among patients with thyroid nodular abnormalities (goiter) and benign tumors of the thyroid gland in Albania, a transitional country in South Eastern Europe. Our study included all patients diagnosed with goiter and/or benign tumors of the thyroid gland who were hospitalized at the University Hospital Center (UHC) "Mother Teresa" in Tirana between 2004 and 2012 (N=2258). All patients underwent the same examination and interviewing procedures. Demographic characteristics included gender, age, and place of residence. Binary logistic regression was used to compare the demographic characteristics between patients with benign tumors of the thyroid gland and those with goiter. Overall, there were 2204 patients with goiter and 54 patients with benign tumors of the thyroid gland hospitalized at UHC over the period 2004-2012. There was no evidence of statistically significant differences in demographic characteristics (age, gender, or place of residence) between patients with benign tumors of the thyroid gland and those with goiter. Our study provides useful evidence on the epidemiology of benign tumors of the thyroid gland and the thyroid nodular abnormalities (goiter) in the Albanian population. Future studies in Albania should assess the main determinants of thyroid gland disorders and compare them with findings pertinent to other similar populations.

  3. Localization of the human RNA polymerase I transcription factor gene (UBTF) to the D17S183 locus on chromosome 17q21 and construction of a long-range restriction map of the region

    Energy Technology Data Exchange (ETDEWEB)

    Jones, K.A.; Black, D.M.; Griffiths, B.L.; Solomon, E. [Somatic Cell Genetics Lab., London (United Kingdom)

    1995-12-10

    Human upstream binding factor (hUBF) is a sequence-specific DNA-binding protein that is essential for the activation of human 18s and 28s rRNA gene transcription. We have isolated and localized the gene (UBTF) encoding hUBF to the D17S183 locus on chromosome 17q21 by analyzing a cosmid from the region and carrying out Southern analysis on a previously constructed chromosome 17 somatic cell hybrid mapping panel using a probe from the hUBF cDNA. Confirmation of its location at this region was obtained from the results of pulsed-field gel electrophoresis analysis of genomic DNA using the hUBF cDNA and other probes from the region. These data also enabled the construction of a long-range restriction map of the region. 13 refs., 2 figs., 1 tab.

  4. Susceptibility to insulin-dependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3-q31

    Energy Technology Data Exchange (ETDEWEB)

    Field, L.L.; Tobias, R. [Univ. of Calgary, Alberta (Canada); Thomson, G. [Univ. of California, Berkeley, CA (United States)] [and others

    1996-04-01

    To locate genes predisposing to insulin-dependent diabetes mellitus (IDDM), an autoimmune disorder resulting from destruction of the insulin-producing pancreatic cells, we are testing linkage of IDDM susceptibility to polymorphic markers across the genome using families with two or more IDDM children. A new susceptibility locus (IDDM11) has been localized to chromosome 14q24.3-q31 by detection of significant linkage to microsatellite D14S67, using both maximum likelihood methods D14S67, using both maximum likelihood methods (LOD{sub max} = 4.0 at {theta} = 0.20) and affected sib pair (ASP) methods (P = 1 x 10{sup -5}). This represents the strongest reported evidence for linkage to any IDDM locus outside the HLA region. The subset of families in which affected children did not show increased sharing of HLA genes (HLA sharing {le}50%) provided most of the support for D14S67 linkage (LOD{sub max}4.6 at {theta} = 0.12;ASP P < 5 x 10{sup -6}). There was significant linkage heterogeneity between the HLA-defined subsets of families (P = 0.009), suggesting that IDDM11 may be an important susceptibility locus in families lacking strong HLA region predisposition. 52 refs., 2 figs., 3 tabs.

  5. A new strategy for estimating two-locus recombination fractions ...

    Indian Academy of Sciences (India)

    Linkage analysis is now being widely used to map markers on each chromosome in the human genome, to map genetic diseases, and to identify genetic forms of common diseases. Two-locus linkage analysis and multi-locus analysis have been investigated comprehensively, and many computer programs have been ...

  6. The Prevalence of goiter and urinary iodine exertion in school-aged children in Lorestan province

    Directory of Open Access Journals (Sweden)

    mozhgan Padyab

    2006-06-01

    Full Text Available Background: Iodine deficiency and its related disorder such as goiter are endemic in Lorestan province. Following initiation of iodine deficiency control program in 1989, production, distribution and consumption of iodinated salt were begun. This survey was conducted in the framework of national monitoring survey in 2001 to find out the prevalence of goiter and urinary iodine level in order to evaluate the iodine status of school- aged children in Lorestan. Materials and Methods: 1200 schoolchildren, aged 7-10 years, were selected randomly from all regions of Lorestan. The grade of goiter in 600 boys and 600 girls, was determined according to WHO classification. Urinary iodine content was estimated using the digestion method in one tenth of the schoolchildren. Findings: Total goiter rate was 7.8% 7.8% in girls and 7.7% in boys. Median urinary iodine was 17 μg/dl. Urinary iodine was above 10 μg/dl in 85.7% and less than 5 μg/dl in 1.7%. No one had urinary iodine below 2 μg/dl. Conclusion: It is concluded that the rate of goiter in Lorestan has decreased significantly since 1996 and urinary iodine levels in schoolchildren are indicative of adequate iodine intake. Therefore Lorestan province can be considered as an 'iodine deficiency free' zone.

  7. Prophylaxis and treatment of endemic goiter with iodized oil in rural Ecuador and Peru.

    Science.gov (United States)

    Kevany, J; Fierro-Benitez, R; Pretell, E A; Stanbury, J B

    1969-12-01

    Endemic goiter is a health problem in many areas of the world; in some areas the disease is so severe that cretinism and other defects are found. In many areas geographic, economic, and other factors prevent the use of iodized salt as a preventive measure. Field studies were begun in 1966 to determine the feasibility and effectiveness of parenteral administration of iodized oil in goiter prevention. Studies were carried out in Ecuador and Peru. In Ecuador 2 villages were chosen in which the prevalence of goiter was about 60%; in Peru 3 villages were chosen where incidence was about 50%. Prevalence of goiter decreased for 20 months during the study but then began to rise again with the maximum reduction seen up to age 18 and minimal reduction after 40 years of age. The control groups in the study experienced only slight decreases in rate of incidence. Cretinism has not yet appeared among the progeny of the population injected with iodized oil but several instances have appeared in control groups. The use of iodized oil as a public health procedure for the prevention of endemic goiter and its associated defects is an acceptable measure in regions where salt iodization cannot be done.

  8. Effectiveness of Radioiodine Treatment for Toxic Nodular Goiter

    Directory of Open Access Journals (Sweden)

    Hatice Şakı

    2015-10-01

    Full Text Available Objective: The aim of this retrospective study is to evaluate the treatment outcomes in patients with toxic nodular goiter (TNG that received radioiodine treatment (RAIT and to determine the influence of age, gender, nodule size, I-131 dose, underlying etiology and antithyroid drugs on the outcomes of RAIT. Methods: Two hundred thirty three patients (mean 64±10 years old with TNG that received RAIT were included in the study. Treatment success was analyzed according to demographic (age and gender and clinical data (thyroid function tests before and after RAIT, thyroid sonography and scintigraphy, I-131 dose, antithyroid drugs. A fixed dose of 555 MBq was administered to patients with nodules smaller than 2 cm in diameter and of 740 MBq to patients with nodules larger than 2 cm. Hyperthyroidism treatment success was defined as achieving hypothyroidism or euthyroidism six months after RAIT. Results: In our study, the cure rate was 93.9% six months after RAIT. Hypothyroidism was observed in 74 (31.7% patients, and euthyroidism was achieved in 145 (62.2% patients while 14 (6% patients remained in hyperthyroid state. Age and gender did not affect treatment outcomes. No correlation was found between underlying etiology or antithyroid drugs and therapeutic effectiveness. The effectiveness of RAIT was better in patients with nodules smaller than 2 cm. Conclusion: We observed that high cure rates were obtained in patients with TNG with 555 MBq and 740 MBq doses of I-131. While nodule diameter and RAI dose are important factors for treatment efficacy; age, gender, underlying etiology and antithyroid drugs do not affect the outcome of RAIT.

  9. The epidemiology, pathalogy, and management of goiter in Yemen

    International Nuclear Information System (INIS)

    Al-Hureibi, Khalid A.; Abdulmughni, Yasser A.; Ghafoor, Mohammad A.; Al-Hureibi, Mohammed A.; Al-Hureibi, Yahia A.

    2004-01-01

    The total goitre rate in Yemen declined by half after the country adopted universal salt iodisation in 1995. We investigated the recent epidemiology, pathalogy, and management of goiter so as to evaluate changes since the initiation of salt iodisation programme. We also sought to determine the effect of new diagnostic tools in the pre-operative work-up of surgically treated patients. Data were collected from the records of 667 patients with goitre seen in Kuwait University Hospital between 1997 and 2001. Females constituted 92.5% (n=617) of the series. The mean age of all patients was 35.2+-11.58 years range (13 to 90 years). Most patients (93%) came from highland areas with an average altitude of 2000 to 2600 meters above sea level. The average duration since patients noticed swelling untill the diagnosis was made was about 4 years. Multinodular bilateral swelling was the most common clinical finding (44.9%), while solitary nodules constituted the least common (17.4%). The most common associated symptom was dyspnoea (20.5%). The most common histopathological finding was nodular and colloid goitre (62.8%), while malignancy accounted for 17.7%. Subtotal thyroidectomy was the most frequent procedure, and the most common postoperative complication was hypocalcaemia. Goitre is a national problem in Yemen. The late presentation, which may be important in malignant transformationof the thyroid gland, makes surgery inoperative. The salt iodisation programme has been associated with a decrease in the malignancy rate. Yemen is the great need of experienced cytologists and radiologists to increase the efficacy of fine needle aspiration cytology and ultrasonography in the diagnosis of thyroid lesions. Patients need to be educated about the importance of post-operative follow up. (author)

  10. Fine mapping and genetic association analysis of Net2, the causative D-genome locus of low temperature-induced hybrid necrosis in interspecific crosses between tetraploid wheat and Aegilops tauschii.

    Science.gov (United States)

    Sakaguchi, Kouhei; Nishijima, Ryo; Iehisa, Julio Cesar Masaru; Takumi, Shigeo

    2016-10-01

    Hybrid necrosis has been observed in many interspecific hybrids from crosses between tetraploid wheat and the wheat D-genome donor Aegilops tauschii. Type II necrosis is a kind of hybrid incompatibility that is specifically characterized by low-temperature induction and growth suppression. Two complementary genes, Net1 on the AB genome and Net2 on the D genome, putatively control type II necrosis in ABD triploids and synthetic hexaploid wheat. Toward map-based cloning of Net2, a fine map around the Net2 region on 2DS was constructed in this study. Using the draft genome sequence of Ae. tauschii and the physical map of the barley genome, the Net2 locus was mapped within a 0.6 cM interval between two closely linked markers. Although local chromosomal rearrangements were observed in the Net2-corresponding region between the barley/Brachypodium and Ae. tauschii genomes, the two closely linked markers were significantly associated with type II necrosis in Ae. tauschii. These results suggest that these markers will aid efficient selection of Net2 non-carrier individuals from the Ae. tauschii population and intraspecific progeny, and could help with introgression of agriculturally important genes from Ae. tauschii to common wheat.

  11. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

    DEFF Research Database (Denmark)

    Darabi, Hatef; Beesley, Jonathan; Droit, Arnaud

    2016-01-01

    for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2...

  12. Solitary intrathyroidal metastasis of renal clear cell carcinoma in a toxic substernal multinodular goiter

    Directory of Open Access Journals (Sweden)

    Dionigi Gianlorenzo

    2008-10-01

    Full Text Available Abstract Introduction Thyroid gland is a rare site of clinically detectable tumor metastasis. Case report A 71-year-old woman was referred to our department for an evaluation of toxic multinodular substernal goiter. She had a history of renal clear cell carcinoma of the left kidney, which had been resected 2 years previously. US confirmed the multinodular goiter. Total thyroidectomy with neuromonitoring was performed on March 2008. A histological examination revealed a solitary metastasis of a clear cell renal cancer in a diffuse multinodular goiter. No distant metastases are detected. Conclusion Although uncommon, it is important for the endocrine surgeon and endocrine oncologist to be able to recognize and differentiate intrathyroid metastases from more primary common thyroid neoplasms. The diagnosis can be suspected if the patient has a thyroid tumor and a past history of extrathyroid cancer. These tumors, on the whole, tend to behave more aggressively and, in most cases, the use of multimodality therapy is recommended.

  13. Obstructive sleep apnoea syndrome in a patient with retrosternal goiter: a case report

    International Nuclear Information System (INIS)

    Sevketbeyoglu, H.; Kara, K.; Ince, M.; Karaagac, H.

    2012-01-01

    Full text: Introduction: Obstructive sleep apnoea syndrome (OSAS) is associated with a large number of predisposing factors (obesity, nasal obstruction, adenoid hypertrophy, macroglossia etc.). In addition to these factors goiter and hypothyroidism have been reported to be associated with OSAS. Objectives and tasks: In our case with retrosternal goiter, values of OSAS before and after thyroidectomy were shown. Materials and methods: Seventy-two years old, BMI: 26,8 kg/m 2 , female patient was admitted our hospital because of complaints to stop breathing during sleep, snoring, morning headache and daytime drowsiness. Results: Thorax CT and ultrasonography of thyroid shown retrosternal goiter and left tracheal deviation. Severe OSAS was diagnosed by polysomnography (PSG). Thyroid function tests were normal. Apneahypopnea index (AHI) was 63,1/h. Patients was performed 7 cm H 2 O nasal continuous positive airway pressure (gvrnCPAP). AHI was 11,4/h under nCPAP. One month after OSAS diagnosis the patient underwent thyroidectomy operation. Pathological examination was reported as multinodular GOITER. In postoperative period CPAP treatment couldn't continue, because patient was not compliant. In postoperative 8-th weeks, PSG was performed; AHI was 34,8/h. The patient's weight and BMI didn't change. Conclusion: In our case, despite absence of continued CPAP treatment after thyroidectomy, symptoms and PSG values improved partially. As a result of these findings, especially, compression of upper airway and deterioration of venous circulation of patients with large goiter may lead to an increase in OSAS symptoms. During patients with OSAS are treated with CPAP, goiter needs to be investigated

  14. Amyloid Goiter: A Diagnosis to Consider in Diffuse Fatty Infiltration of the Thyroid.

    Science.gov (United States)

    Bakan, Selim; Kandemirli, Sedat Giray; Akbas, Serkan; Cingoz, Mehmet; Ozcan Guzelbey, Burcu; Kantarci, Fatih; Akman, Canan

    2017-05-01

    An amyloid goiter is the presence of amyloid protein in the thyroid in sufficient amounts to produce enlargement of the gland, accompanied by fat deposition of varying extents. It can be seen in long-standing inflammatory disorders such as familial Mediterranean fever. Imaging findings depend on the amount of fat and amyloid deposition; however, the main imaging finding is diffuse fatty infiltration of the thyroid. Herein, the multimodality imaging features in 3 cases of amyloid goiters secondary to familial Mediterranean fever are presented. © 2017 by the American Institute of Ultrasound in Medicine.

  15. A randomized trial comparing levothyroxine with radioactive iodine in the treatment of sporadic nontoxic goiter

    NARCIS (Netherlands)

    Wesche, M. F.; Tiel-V Buul, M. M.; Lips, P.; Smits, N. J.; Wiersinga, W. M.

    2001-01-01

    A randomized clinical trial was performed in consecutive patients with sporadic nontoxic nodular goiter to compare efficacy and side effects of iodine-131 ((131)I) therapy with suppressive levothyroxine (L-thyroxine) treatment. Sixty-four patients were randomized after stratification for sex and

  16. The pathogenetic significance of low iodine intake in non-endemic goiter

    International Nuclear Information System (INIS)

    Harriet, D.P.; Rigshospitalet, Copenhagen

    1977-01-01

    The blood inorganic iodine concentration (BII), the radioiodide clearance and the absolute iodine uptake (AIU) were determined in 27 patients with simple goiter and in 21 controls. The purpose was to evaluate the pathogenetic significance of low iodine intake for the formation of sporadic goiter. An early thyroid radioiodide clearance was measured by 132 I (5-30 min post injection), and the BII values were bases on the specific activity of I in saliva. The median BII levels of patients and controls were 1.1 and 1.5 μg/l respectively, and the urinary iodine excretion 67 and 79 μg/day respectively, the difference was not significant. The radioiodide clearance was above the normal range in 13 out of 27 patients, and 16 of 27 patients had elevated or high normal AIU values. These patients included 7 out of 9 patients with diffuse, shortlasting goiter; the AIU of those with nodular goiter ranged from slightly subnormal to elevated. Only one exhibited a typical iodine deficiency pattern of very low BII, high radioiodide clearance and normal AIU. (orig.) [de

  17. The clinical evaluation of iodine-131 therapy in non-toxic goiter

    International Nuclear Information System (INIS)

    Chen Yue; Zhang Chunyin; Sun Xiaoyang; Qiu Ling; Long Shuiqing; Gan Xilun

    2001-01-01

    Objective: To study the Iodine-131 dose, indications and effect of radioiodine treatment of non-toxic goiter (NTG). Methods: 35 patients with large non-toxic goiters were treated with 131 I. 5 had previous thyroidectomy with goiter recurrence, 15 had symptoms of respiratory obstruction after thyroxin treatment without adequate effect, 3 were older patients who were at high operative risk, 5 had cardiopulmonary disease, 7 refused surgery. 131 I was given at a dose of 2.96-70.3 MBq/g total thyroid mass corrected to a 100% 131 I uptake in 24 hours. Thyroid size was measured by sonography during 12-36 months follow-up. Results: In 35 patients treated with 131 I the thyroid mass was reduced from 86.5 ± 20.3 g to 40.3 ± 13.6 g at 12 months (P 131 I therapy for NTG. 131 I therapy for NTG appears to be an acceptable, cost-effective, simple therapy for large NTG, especially for older patients who are at high operative risk, have had previous thyroidectomy with goiter recurrence, contraindications to or refusal of surgery

  18. Research on iodine deficiency and goiter in the 19th and early 20th centuries

    NARCIS (Netherlands)

    Zimmermann, M.B.

    2008-01-01

    In 1811, Courtois noted a violet vapor arising from burning seaweed ash and Gay-Lussac subsequently identified the vapor as iodine, a new element. The Swiss physician Coindet, in 1813, hypothesized the traditional treatment of goiter with seaweed was effective because of its iodine content and

  19. Impact assessment of salt iodization on the prevalence of goiter in district Swat

    International Nuclear Information System (INIS)

    Akhtar, J.; Zahoor-Ullah; Paracha, P.I.; Lutfullah, G.

    2004-01-01

    Background: To eliminate Iodine Deficiency Disorders, (IDD) universal salt iodization is the widely practiced intervention. District Swat (a hilly area of NWFP, highly endemic for IDDs is selected as a first model district of the province for salt iodization program. Objectives: To find out the proportion of the families using iodized salt, iodine contents of the salts used by the families, urinary iodine levels in school children and the effect on goiter prevalence in Swat selected as a model district in 1998. Subject and Methods: The study was conducted in 960 children of both sexes, age 8-10 years in primary schools of district Swat in the year 2000. A replicate model used for base line study in 1998 was adopted. The students were clinically examined for goiter using palpation method. 960 edible salt samples for its iodine content and 240 urine samples for iodine level were analysed. Results: The overall goiter prevalence was found to be 52 and 45% in boys and girls respectively. 23% salt samples were found un-iodized, while in 25.6% the iodine content was less than 7ppm. The results revealed 18% decrease in total goiter rate and 35% increase in the use of iodized salt from the base line survey conducted in 1998, in school children of district Swat. Conclusions: The study revealed that since the area of Swat is still highly endemic for Iodine Deficiency Disorders, sustained efforts are required to ensure 100% salt iodization. (author)

  20. A 30-year perspective on radioiodine therapy of benign nontoxic multinodular goiter

    DEFF Research Database (Denmark)

    Bonnema, Steen J; Hegedüs, Laszlo

    2009-01-01

    PURPOSE OF REVIEW: There is no consensus on the ideal treatment of patients with a benign nontoxic multinodular goiter. In some European countries, (131)I therapy has replaced surgery as the treatment of choice in these patients. Recombinant human thyrotropin (rhTSH) is a very potent stimulator o...

  1. High resolution mapping of trypanosomosis resistance loci Tir2 and Tir3 using F12 advanced intercross lines with major locus Tir1 fixed for the susceptible allele

    Directory of Open Access Journals (Sweden)

    Soller Morris

    2010-06-01

    Full Text Available Abstract Background Trypanosomosis is the most economically important disease constraint to livestock productivity in Africa. A number of trypanotolerant cattle breeds are found in West Africa, and identification of the genes conferring trypanotolerance could lead to effective means of genetic selection for trypanotolerance. In this context, high resolution mapping in mouse models are a promising approach to identifying the genes associated with trypanotolerance. In previous studies, using F2 C57BL/6J × A/J and C57BL/6J × BALB/cJ mouse resource populations, trypanotolerance QTL were mapped within a large genomic intervals of 20-40 cM to chromosomes MMU17, 5 and 1, and denoted Tir1, Tir2 and Tir3 respectively. Subsequently, using F6 C57BL/6J × A/J and C57BL/6J × BALB/cJ F6 advanced intercross lines (AIL, Tir1 was fine mapped to a confidence interval (CI of less than 1 cM, while Tir2 and Tir3, were mapped within 5-12 cM. Tir1 represents the major trypanotolerance QTL. Results In order to improve map resolutions of Tir2 and Tir3, an F12 C57BL/6J × A/J AIL population fixed for the susceptible alleles at Tir1 QTL was generated. An F12 C57BL/6J × A/J AIL population, fixed for the resistant alleles at Tir1 QTL was also generated to provide an additional estimate of the gene effect of Tir1. The AIL populations homozygous for the resistant and susceptible Tir1 alleles and the parental controls were challenged with T. congolense and followed for survival times over 180 days. Mice from the two survival extremes of the F12 AIL population fixed for the susceptible alleles at Tir1 were genotyped with a dense panel of microsatellite markers spanning the Tir2 and Tir3 genomic regions and QTL mapping was performed. Tir2 was fine mapped to less than 1 cM CI while Tir3 was mapped to three intervals named Tir3a, Tir3b and Tir3c with 95% confidence intervals (CI of 6, 7.2 and 2.2 cM, respectively. Conclusions The mapped QTL regions encompass genes that are

  2. Genetic Map Construction and Quantitative Trait Locus (QTL Detection of Six Economic Traits Using an F2 Population of the Hybrid from Saccharina longissima and Saccharina japonica.

    Directory of Open Access Journals (Sweden)

    Jing Zhang

    Full Text Available Saccharina (Laminaria is one of the most important economic seaweeds. Previously, four genetic linkage maps of Saccharina have been constructed and five QTLs have been identified. However, they were not enough for its breeding. In this work, Saccharina longissima (♀ and Saccharina japonica (♂, which showed obvious differences in morphology and genetics, were applied in hybridization to yield the F2 mapping population with 102 individuals. Using these 102 F2 hybrids, the genetic linkage map of Saccharina was constructed by MapMaker software based on 37 amplified fragment length polymorphisms (AFLPs, 22 sequence-related amplified polymorphisms (SRAPs and 139 simple sequence repeats (SSRs markers. Meanwhile, QTL analysis was performed for six economic traits. The linkage map constructed in this research consisted of 422 marker loci (137 AFLPs, 57 SRAPs and 228 SSRs, which formed 45 linkage groups (LGs with an average marker space of 7.92 cM; they spanned a total length of 2233.1 cM, covering the whole estimated genome size. A total of 29 QTLs were identified for six economic traits, which explained 1.06 to 64.00% of phenotypic variation, including three QTLs for frond length (FL and raw weight (RW, five QTLs for frond width (FW, two QTLs for frond fascia width (FFW and frond thickness (FT, and fourteen QTLs for base shape (BS. The results of this research will improve the breeding efficiency and be beneficial for marker-assisted selection (MAS schemes in Saccharina breeding.

  3. Could Carlos Chagas' assumption on the relationship between goiter and chronic Chagas heart disease be correct? A historical reappraisal.

    Science.gov (United States)

    Bestetti, Reinaldo B; Cardinalli-Neto, Augusto; Restini, Carolina B A; Couto, Lucelio B

    2016-01-01

    In 1910, Chagas divided the clinical manifestations of the chronic form of Chagas disease according to heart, Central Nervous System, and thyroid involvement, particularly the presence of goiter. Chagas emphasized the association of goiter with poor houses infested with kissing bugs, the similarity of the clinical picture with that of patients underwent partial thyroidectomy, and with the presence of thyroid sclerosis (inflammation) on histological examination. In addition, Chagas observed that all people living in poor houses infested by sucking bugs had goiter, contrasting with persons who lived in the same region, drinking the same water, but living in good houses, which did not have goiter. Furthermore, Chagas stressed the fact that people without any evidence of thyroid disease that migrated to live in poor houses in areas infested by sucking bugs developed thyroid disease some time later. Finally, and more importantly, Chagas emphasized the association of goiter with cardiac abnormalities in 80% of patients with chronic Chagas heart disease. Despite this, other authors working in different regions did not confirm such an association. A reappraisal of data from a work published in 1949 clearly shows that the presence of goiter was statistically associated with chronic Chagas heart disease and with chronic Chagas disease. Our paper highlights once more the grandiosity of Chagas' work, which has been proved to be correct even in the history of goiter, and justifies our claim for a posthumous Nobel Prize inasmuch as his work was not perceived by the Karolinska Institute. Copyright © 2015. Published by Elsevier Ireland Ltd.

  4. [Influence of removing iodized salt on children's goiter status in areas with high iodine in drinking water].

    Science.gov (United States)

    Lu, Shengmin; Xu, Dong; Wang, Yuchun; Du, Yonggui; Jia, Lihui; Liang, Suoli

    2015-05-01

    To explore the changes of goiter prevalence of children living in areas with high iodine in drinking water after removing iodized salt from their diet. Three towns with median water iodine of 150 - 300 μg/L were selected randomly in Hengshui city of Hebei province of China. A total of 452 and 459 children in the 3 towns were randomly selected to measure thyroid volume by ultrasound before and after removing iodized salt, respectively. Their goiter status was judged using the criteria of age-specific thyroid volume recommended by the WHO. After removing iodized salt, the overall goiter prevalence in the three towns significantly decreased from 24.56% (111/452) to 5.88% (27/459) (P < 0.01). The goiter prevalence in 8, 9 and 10 year-old children decreased respectively from 33.70% (31/92), 23.32% (45/193) and 20.96% (35/167) to 6.10% (10/164), 5.52% (9/163) and 6.06% (8/132). The goiter prevalence in boys and girls decreased from 27.05% (66/244) and 21.63% (45/208 ) to 6.66% (15/226 ) and 5.15% (12/233), respectively. The decreases in children's goiter prevalence across gender and age group were all significant. Children's goiter prevalence decreased significantly after removing iodized salt from their diet for about one and half years in the HIA in Hebei province.

  5. Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A

    Energy Technology Data Exchange (ETDEWEB)

    Othmane, K.B.; Loeb, D.; Roses, A.D.; Pericak-Vance, M.A.; Vance, J.M. [Duke Univ. Medical Center, Durham, NC (United States)] [and others

    1995-07-20

    We have previously localized one form of the autosomal recessive Charcot-Marie-Tooth disease type 4 (CMT4A) to a 5-cM region of chromosome 8q13-q21. We now report the formation of a 7-Bp YAC contig spanning the region. This contig was used to map nine additional microsatellites and six STSs to this region, and subsequent haplotype analysis has narrowed the CMT4A flanking interval to less than 1 cM. In addition, using SSCP and our physical map, we have demonstrated that the myelin protein PMP-2, mapped by FISH to this region, is not the defect in CMT4A. 27 refs., 3 figs., 1 tab.

  6. Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36.

    Science.gov (United States)

    Field, L L; Shumansky, K; Ryan, J; Truong, D; Swiergala, E; Kaplan, B J

    2013-02-01

    Analysis of genetic linkage to dyslexia was performed using 133,165 array-based SNPs genotyped in 718 persons from 101 dyslexia-affected families. Results showed five linkage peaks with lod scores >2.3 (4q13.1, 7q36.1-q36.2, 7q36.3, 16p12.1, and 17q22). Of these five regions, three have been previously implicated in dyslexia (4q13.1, 16p12.1, and 17q22), three have been implicated in attention-deficit hyperactivity disorder (ADHD, which highly co-occurs with dyslexia; 4q13.1, 7q36.3, 16p12.1) and four have been implicated in autism (a condition characterized by language deficits; 7q36.1-q36.2, 7q36.3, 16p12.1, and 17q22). These results highlight the reproducibility of dyslexia linkage signals, even without formally significant lod scores, and suggest dyslexia predisposing genes with relatively major effects and locus heterogeneity. The largest lod score (2.80) occurred at 17q22 within the MSI2 gene, involved in neuronal stem cell lineage proliferation. Interestingly, the 4q13.1 linkage peak (lod 2.34) occurred immediately upstream of the LPHN3 gene, recently reported both linked and associated with ADHD. Separate analyses of larger pedigrees revealed lods >2.3 at 1-3 regions per family; one family showed strong linkage (lod 2.9) to a known dyslexia locus (18p11) not detected in our overall data, demonstrating the value of analyzing single large pedigrees. Association analysis identified no SNPs with genome-wide significance, although a borderline significant SNP (P = 6 × 10(-7)) occurred at 5q35.1 near FGF18, involved in laminar positioning of cortical neurons during development. We conclude that dyslexia genes with relatively major effects exist, are detectable by linkage analysis despite genetic heterogeneity, and show substantial overlapping predisposition with ADHD and autism. © 2012 The Authors. Genes, Brain and Behavior © 2012 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society.

  7. Iodinated Contrast Media-Induced Thyroid Dysfunction in Euthyroid Nodular Goiter Patients.

    Science.gov (United States)

    Kornelius, Edy; Chiou, Jeng-Yuan; Yang, Yi-Sun; Lo, Shih-Chang; Peng, Chiung-Huei; Lai, Yung-Rung; Huang, Chien-Ning

    2016-08-01

    The risks of thyroid dysfunction after iodinated contrast media exposure in patients with euthyroid nodular goiter are largely unknown. This observational, retrospective cohort study included a random selection of one million people in Taiwan. All patients with iodinated contrast media exposure during this study period were selected. Patients with euthyroid nodular goiter were identified as cases, while patients without thyroid nodule were selected as controls. We followed these patients until the first event of thyroid dysfunction including hyperthyroidism or hypothyroidism after iodinated contrast media exposure. A total of 334 cases and 2672 matched controls were selected in this study. The mean age of cases and controls were 58.6 and 58.4 years old, and mean follow-up durations were 2.1 and 2 years respectively. After adjustment, patients with euthyroid nodular goiter had a higher risk of thyroid dysfunction (hazard ratio 5.43, [confidence interval (CI) 3.01-9.80]) compared with controls after iodinated contrast media exposure. In the subgroup analysis, the risks of hyperthyroidism and hypothyroidism in cases compared with controls were 5.77 [CI 2.64-12.62] and 4.95 [CI 2.15-11.40] respectively. Half of the euthyroid nodular goiter cases developed thyroid dysfunction within one year after iodinated contrast media exposure. Interestingly, all thyroid-related comorbidities and drug prescriptions did not increase the risk of thyroid dysfunction. Presence of euthyroid nodular goiter was associated with higher risk of thyroid dysfunction including hyperthyroidism and hypothyroidism after iodinated contrast media exposure.

  8. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

    NARCIS (Netherlands)

    Zeng, Chenjie; Guo, Xingyi; Long, Jirong; Kuchenbaecker, Karoline B.; Droit, Arnaud; Michailidou, Kyriaki; Ghoussaini, Maya; Kar, Siddhartha; Freeman, Adam; Hopper, John L.; Milne, Roger L.; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Agata, Simona; Ahmed, Shahana; Aittomaki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arason, Adalgeir; Arndt, Volker; Arun, Banu K.; Arver, Brita; Bacot, Francois; Barrowdale, Daniel; Baynes, Caroline; Beeghly-Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Blot, William J.; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Brand, Judith S.; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Broeks, Annegien; Bruening, Thomas; Burwinkel, Barbara; Buys, Saundra S.; Cai, Qiuyin; Caldes, Trinidad; Campbell, Ian; Carpenter, Jane; Chang-Claude, Jenny; Choi, Ji-Yeob; Claes, Kathleen B. M.; Clarke, Christine; Cox, Angela; Cross, Simon S.; Czene, Kamila; Daly, Mary B.; de la Hoya, Miguel; De Leeneer, Kim; Devilee, Peter; Diez, Orland; Domchek, Susan M.; Doody, Michele; Dorfling, Cecilia M.; Doerk, Thilo; dos-Santos-Silva, Isabel; Dumont, Martine; Dwek, Miriam; Dworniczak, Bernd; Egan, Kathleen; Eilber, Ursula; Einbeigi, Zakaria; Ejlertsen, Bent; Ellis, Steve; Frost, Debra; Lalloo, Fiona; Fasching, Peter A.; Figueroa, Jonine; Flyger, Henrik; Friedlander, Michael; Friedman, Eitan; Gambino, Gaetana; Gao, Yu-Tang; Garber, Judy; Garcia-Closas, Montserrat; Gehrig, Andrea; Damiola, Francesca; Lesueur, Fabienne; Mazoyer, Sylvie; Stoppa-Lyonnet, Dominique; Giles, Graham G.; Godwin, Andrew K.; Goldgar, David E.; Gonzalez-Neira, Anna; Greene, Mark H.; Guenel, Pascal; Haeberle, Lothar; Haiman, Christopher A.; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V. O.; Hart, Steven; Hartikainen, Jaana M.; Hartman, Mikael; Hassan, Norhashimah; Healey, Sue; Hogervorst, Frans B. L.; Verhoef, Senno; Hendricks, Carolyn B.; Hillemanns, Peter; Hollestelle, Antoinette; Hulick, Peter J.; Hunter, David J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Ito, Hidemi; Jakubowska, Anna; Janavicius, Ramunas; Jaworska-Bieniek, Katarzyna; Jensen, Uffe Birk; John, Esther M.; Beauparlant, Charles Joly; Jones, Michael; Kabisch, Maria; Kang, Daehee; Karlan, Beth Y.; Kauppila, Saila; Kerin, Michael J.; Khan, Sofia; Khusnutdinova, Elza; Knight, Julia A.; Konstantopoulou, Irene; Kraft, Peter; Kwong, Ava; Laitman, Yael; Lambrechts, Diether; Lazaro, Conxi; Le Marchand, Loic; Lee, Chuen Neng; Lee, Min Hyuk; Lester, Jenny; Li, Jingmei; Liljegren, Annelie; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Mai, Phuong L.; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; Matsuo, Keitaro; McGuffog, Lesley; Meindl, Alfons; Menegaux, Florence; Montagna, Marco; Muir, Kenneth; Mulligan, Anna Marie; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Newcomb, Polly A.; Nord, Silje; Nussbaum, Robert L.; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Olswold, Curtis; Osorio, Ana; Papi, Laura; Park-Simon, Tjoung-Won; Paulsson-Karlsson, Ylva; Peeters, Stephanie; Peissel, Bernard; Peterlongo, Paolo; Peto, Julian; Pfeiler, Georg; Phelan, Catherine M.; Presneau, Nadege; Radice, Paolo; Rahman, Nazneen; Ramus, Susan J.; Rashid, Muhammad Usman; Rennert, Gad; Rhiem, Kerstin; Rudolph, Anja; Salani, Ritu; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schoemaker, Minouk J.; Schuermann, Peter; Seynaeve, Caroline; Shen, Chen-Yang; Shrubsole, Martha J.; Shu, Xiao-Ou; Sigurdson, Alice; Singer, Christian F.; Slager, Susan; Soucy, Penny; Southey, Melissa; Steinemann, Doris; Swerdlow, Anthony; Szabo, Csilla I.; Tchatchou, Sandrine; Teixeira, Manuel R.; Teo, Soo H.; Terry, Mary Beth; Tessier, Daniel C.; Teule, Alex; Thomassen, Mads; Tihomirova, Laima; Tischkowitz, Marc; Toland, Amanda E.; Tung, Nadine; Turnbull, Clare; van den Ouweland, Ans M. W.; van Rensburg, Elizabeth J.; ven den Berg, David; Vijai, Joseph; Wang-Gohrke, Shan; Weitzel, Jeffrey N.; Whittemore, Alice S.; Winqvist, Robert; Wong, Tien Y.; Wu, Anna H.; Yannoukakos, Drakoulis; Yu, Jyh-Cherng; Pharoah, Paul D. P.; Hall, Per; Chenevix-Trench, Georgia; Dunning, Alison M.; Simard, Jacques; Couch, Fergus J.; Antoniou, Antonis C.; Easton, Douglas F.; Zheng, Wei; Ligtenberg, Jakobus; Oosterwijk, Jan; van der Hout, Annemarie

    2016-01-01

    Background: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300

  9. High-resolution tyramide-FISH mapping of markers tightly linked to the male-fertility restoration (Ms) locus of onion

    Science.gov (United States)

    Fluorescence in situ hybridization (FISH) has not been readily exploited for physical mapping of molecular markers in plants due to the technical challenge to visualize small single-copy probes. Signal amplification using tyramide (tyr) FISH can increase sensitivity up to 100 fold. We used tyr-FISH ...

  10. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

    NARCIS (Netherlands)

    C. Zeng (Chenjie); Guo, X. (Xingyi); J. Long (Jirong); K.B. Kuchenbaecker (Karoline); A. Droit (Arnaud); K. Michailidou (Kyriaki); M. Ghoussaini (Maya); S. Kar (Siddhartha); Freeman, A. (Adam); J.L. Hopper (John); R.L. Milne (Roger); M.K. Bolla (Manjeet K.); Wang, Q. (Qin); J. Dennis (Joe); S. Agata (Simona); S. Ahmed (Shahana); K. Aittomäki (Kristiina); I.L. Andrulis (Irene); H. Anton-Culver (Hoda); Antonenkova, N.N. (Natalia N.); A. Arason (Adalgeir); Arndt, V. (Volker); B.K. Arun (Banu); B. Arver (Brita Wasteson); F. Bacot (Francois); D. Barrowdale (Daniel); Baynes, C. (Caroline); A. Beeghly-Fadiel (Alicia); J. Benítez (Javier); M. Bermisheva (Marina); C. Blomqvist (Carl); W.J. Blot (William); N.V. Bogdanova (Natalia); S.E. Bojesen (Stig); B. Bonnani (Bernardo); A.-L. Borresen-Dale (Anne-Lise); J.S. Brand (Judith S.); H. Brauch (Hiltrud); P. Brennan (Paul); H. Brenner (Hermann); A. Broeks (Annegien); T. Brüning (Thomas); B. Burwinkel (Barbara); S.S. Buys (Saundra); Q. Cai (Qiuyin); T. Caldes (Trinidad); I. Campbell (Ian); T.A. Carpenter (Adrian); J. Chang-Claude (Jenny); Choi, J.-Y. (Ji-Yeob); K.B.M. Claes (Kathleen B.M.); C. Clarke (Christine); A. Cox (Angela); S.S. Cross (Simon); K. Czene (Kamila); M.B. Daly (Mary B.); M. de La Hoya (Miguel); K. De Leeneer (Kim); P. Devilee (Peter); O. Díez (Orland); S.M. Domchek (Susan); M. Doody (Michele); C.M. Dorfling (Cecilia); T. Dörk (Thilo); I. dos Santos Silva (Isabel); M. Dumont (Martine); M. Dwek (Miriam); Dworniczak, B. (Bernd); K.M. Egan (Kathleen); U. Eilber (Ursula); Z. Einbeigi (Zakaria); B. Ejlertsen (Bent); S.D. Ellis (Steve); D. Frost (Debra); F. Lalloo (Fiona); P.A. Fasching (Peter); J.D. Figueroa (Jonine); H. Flyger (Henrik); M. Friedlander (Michael); E. Friedman (Eitan); Gambino, G. (Gaetana); Gao, Y.-T. (Yu-Tang); J. Garber (Judy); M. García-Closas (Montserrat); P.A. Gehrig (Paola A.); F. Damiola (Francesca); F. Lesueur (Fabienne); S. Mazoyer (Sylvie); D. Stoppa-Lyonnet (Dominique); Giles, G.G. (Graham G.); A.K. Godwin (Andrew K.); D. Goldgar (David); A. González-Neira (Anna); M.H. Greene (Mark H.); P. Guénel (Pascal); L. Haeberle (Lothar); C.A. Haiman (Christopher A.); Hallberg, E. (Emily); U. Hamann (Ute); T.V.O. Hansen (Thomas); S. Hart (Stewart); J.M. Hartikainen (J.); J.M. Hartman (Joost); N. Hassan (Norhashimah); S. Healey (Sue); F.B.L. Hogervorst (Frans); S. Verhoef; Hendricks, C.B. (Carolyn B.); P. Hillemanns (Peter); A. Hollestelle (Antoinette); P.J. Hulick (Peter); D. Hunter (David); E.N. Imyanitov (Evgeny); C. Isaacs (Claudine); H. Ito (Hidemi); A. Jakubowska (Anna); R. Janavicius (Ramunas); Jaworska-Bieniek, K. (Katarzyna); U.B. Jensen; E.M. John (Esther); Joly Beauparlant, C. (Charles); M. Jones (Michael); M. Kabisch (Maria); D. Kang (Daehee); Karlan, B.Y. (Beth Y.); S. Kauppila (Saila); M. Kerin (Michael); S. Khan (Sofia); E.K. Khusnutdinova (Elza); J.A. Knight (Julia); I. Konstantopoulou (I.); P. Kraft (Peter); A. Kwong (Ava); Y. Laitman (Yael); Lambrechts, D. (Diether); C. Lazaro (Conxi); L. Le Marchand (Loic); C.N. Lee (Chuen); M.H. Lee (Min Hyuk); K.J. Lester (Kathryn); J. Li (Jingmei); A. Liljegren (Annelie); A. Lindblom (Annika); A. Lophatananon (Artitaya); J. Lubinski (Jan); P.L. Mai (Phuong); A. Mannermaa (Arto); S. Manoukian (Siranoush); S. Margolin (Sara); Marme, F. (Frederik); K. Matsuo (Keitaro); L. McGuffog (Lesley); A. Meindl (Alfons); F. Menegaux (Florence); M. Montagna (Marco); K.R. Muir (K.); A.-M. Mulligan (Anna-Marie); K.L. Nathanson (Katherine); S.L. Neuhausen (Susan); H. Nevanlinna (Heli); P. Newcomb (Polly); S. Nord (Silje); R.L. Nussbaum (Robert L.); K. Offit (Kenneth); E. Olah; O.I. Olopade (Olufunmilayo I.); C. Olswold (Curtis); A. Osorio (Ana); L. Papi (Laura); T.-W. Park-Simon; Paulsson-Karlsson, Y. (Ylva); S.T.H. Peeters (Stephanie); B. Peissel (Bernard); P. Peterlongo (Paolo); J. Peto (Julian); G. Pfeiler (Georg); C. Phelan (Catherine); Presneau, N. (Nadege); P. Radice (Paolo); N. Rahman (Nazneen); S.J. Ramus (Susan); M.U. Rashid (Muhammad); G. Rennert (Gad); K. Rhiem (Kerstin); Rudolph, A. (Anja); R. Salani (Ritu); Sangrajrang, S. (Suleeporn); E.J. Sawyer (Elinor); M.K. Schmidt (Marjanka); R.K. Schmutzler (Rita); M. Schoemaker (Minouk); P. Schürmann (Peter); C.M. Seynaeve (Caroline); C.-Y. Shen (Chen-Yang); M. Shrubsole (Martha); X.-O. Shu (Xiao-Ou); A.J. Sigurdson (Alice); C.F. Singer (Christian); S. Slager (Susan); Soucy, P. (Penny); M.C. Southey (Melissa); D. Steinemann (Doris); A.J. Swerdlow (Anthony ); C. Szabo (Csilla); Tchatchou, S. (Sandrine); P.J. Teixeira; S.-H. Teo; M.B. Terry (Mary Beth); D.C. Tessier (Daniel C.); A. Teulé (A.); M. Thomassen (Mads); L. Tihomirova (Laima); M. Tischkowitz (Marc); A.E. Toland (Amanda); N. Tung (Nadine); C. Turnbull (Clare); A.M.W. van den Ouweland (Ans); E.J. van Rensburg (Elizabeth); ven den Berg, D. (David); J. Vijai (Joseph); S. Wang-Gohrke (Shan); J.N. Weitzel (Jeffrey); A.S. Whittemore (Alice); R. Winqvist (Robert); Wong, T.Y. (Tien Y.); A.H. Wu (Anna); Yannoukakos, D. (Drakoulis); J-C. Yu (Jyh-Cherng); P.D.P. Pharoah (Paul); P. Hall (Per); G. Chenevix-Trench (Georgia); A.M. Dunning (Alison); J. Simard (Jacques); F.J. Couch (Fergus); A.C. Antoniou (Antonis C.); D.F. Easton (Douglas F.); W. Zheng (Wei)

    2016-01-01

    textabstractBackground: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more

  11. Genotype versus phenotype: conflicting results in mapping a lung tumor susceptibility locus to the G7c recombination interval in the mouse MHC class III region

    NARCIS (Netherlands)

    van Kooij, M.; de Groot, K.; van Vugt, H.; Aten, J.; Snoek, M.

    2001-01-01

    Susceptibility to chemically induced lung tumorigenesis has previously been mapped to a genomic interval of 27 kb in the MHC class III region of the mouse using two H2 (a/b) intra- H2 recombinants, B10.A(1R) and B10.A(2R). Three genes are located within this interval, G7e (encoding a viral envelope

  12. High-resolution mapping and characterization of qRgls2, a major quantitative trait locus involved in maize resistance to gray leaf spot.

    Science.gov (United States)

    Xu, Ling; Zhang, Yan; Shao, Siquan; Chen, Wei; Tan, Jing; Zhu, Mang; Zhong, Tao; Fan, Xingming; Xu, Mingliang

    2014-08-31

    Gray leaf spot (GLS) caused by Cercospora zeae-maydis (Czm) or Cercospora zeina (Cz) is a devastating maize disease and results in substantial yield reductions worldwide. GLS resistance is a quantitatively inherited trait. The development and cultivation of GLS-resistant maize hybrids are the most cost-effective and efficient ways to control this disease. We previously detected a major GLS resistance QTL, qRgls2, in bin 5.03-04, which spans the whole centromere of chromosome 5 encompassing a physical distance of ~110-Mb. With advanced backcross populations derived from the cross between the resistant Y32 and susceptible Q11 inbred lines, a sequential recombinant-derived progeny testing strategy was adapted to fine map qRgls2. We narrowed the region of qRgls2 from an initial ~110-Mb to an interval of ~1-Mb, flanked by the markers G346 and DD11. qRgls2 showed predominantly additive genetic effects and significantly increased the resistance percentage by 20.6 to 24.6% across multiple generations. A total of 15 genes were predicted in the mapped region according to the 5b.60 annotation of the maize B73 genome v2. Two pieces of the mapped qRgls2 region shared collinearity with two distant segments on maize chromosome 4. qRgls2, a major QTL involved in GLS resistance, was mapped to a ~1-Mb region close to the centromere of chromosome 5. There are 15 predicted genes in the mapped region. It is assumed that qRgls2 could be widely used to improve maize resistance to GLS.

  13. Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population

    Science.gov (United States)

    McInnes, L. Alison; Service, Susan K.; Reus, Victor I.; Barnes, Glenn; Charlat, Olga; Jawahar, Satya; Lewitzky, Steve; Yang, Qing; Duong, Quyen; Spesny, Mitzi; Araya, Carmen; Araya, Xinia; Gallegos, Alvaro; Meza, Luis; Molina, Julio; Ramirez, Rolando; Mendez, Roxana; Silva, Sandra; Fournier, Eduardo; Batki, Steven L.; Mathews, Carol A.; Neylan, Thomas; Glatt, Charles E.; Escamilla, Michael A.; Luo, David; Gajiwala, Paresh; Song, Terry; Crook, Stephen; Nguyen, Jasmine B.; Roche, Erin; Meyer, Joanne M.; Leon, Pedro; Sandkuijl, Lodewijk A.; Freimer, Nelson B.; Chen, Hong

    2001-01-01

    We have searched for genes predisposing to bipolar disorder (BP) by studying individuals with the most extreme form of the affected phenotype, BP-I, ascertained from the genetically isolated population of the Central Valley of Costa Rica (CVCR). The results of a previous linkage analysis on two extended CVCR BP-I pedigrees, CR001 and CR004, and of linkage disequilibrium (LD) analyses of a CVCR population sample of BP-I patients implicated a candidate region on 18p11.3. We further investigated this region by creating a physical map and developing 4 new microsatellite and 26 single-nucleotide polymorphism markers for typing in the pedigree and population samples. We report the results of fine-scale association analyses in the population sample, as well as evaluation of haplotypes in pedigree CR001. Our results suggest a candidate region containing six genes but also highlight the complexities of LD mapping of common disorders. PMID:11572994

  14. Genotype-by-sequencing facilitates genetic mapping of a stem rust resistance locus in Aegilops umbellulata, a wild relative of cultivated wheat

    OpenAIRE

    Edae, Erena A.; Olivera, Pablo D.; Jin, Yue; Poland, Jesse A.; Rouse, Matthew N.

    2016-01-01

    Background Wild relatives of wheat play a significant role in wheat improvement as a source of genetic diversity. Stem rust disease of wheat causes significant yield losses at the global level and stem rust pathogen race TTKSK (Ug99) is virulent to most previously deployed resistance genes. Therefore, the objective of this study was to identify loci conferring resistance to stem rust pathogen races including Ug99 in an Aegilops umbelluata bi-parental mapping population using genotype-by-seque...

  15. Fine Mapping and Identification of a Novel Phytophthora Root Rot Resistance Locus RpsZS18 on Chromosome 2 in Soybean

    Directory of Open Access Journals (Sweden)

    Chao Zhong

    2018-01-01

    Full Text Available Phytophthora root rot (PRR caused by Phytophthora sojae is a major soybean disease that causes severe economic losses worldwide. Using soybean cultivars carrying a Rps resistance gene is the most effective strategy for controlling this disease. We previously detected a novel Phytophthora resistance gene, RpsZS18, on chromosome 2 of the soybean cultivar Zaoshu18. The aim of the present study was to identify and finely map RpsZS18. We used 232 F2:3 families generated from a cross between Zaoshu18 (resistant and Williams (susceptible as the mapping population. Simple sequence repeat (SSR markers distributed on chromosome 2 were used to map RpsZS18. First, 12 SSR markers linked with RpsZS18 were identified by linkage analyses, including two newly developed SSR markers, ZCSSR33 and ZCSSR46, that flanked the gene at distances of 0.9 and 0.5 cM, respectively. Second, PCR-based InDel markers were developed based on sequence differences between the two parents and used to further narrow down the mapping region of RpsZS18 to 71.3 kb. Third, haplotype analyses were carried out in the RpsZS18 region using 14 soybean genotypes with whole-genome resequencing. We detected six genes with unique haplotype sequences in Zaoshu18. Finally, quantitative real-time PCR assays of the six genes revealed an EF-hand calcium-binding domain containing protein encoding gene (Glyma.02g245700, a pfkB carbohydrate kinase encoding gene (Glyma.02g245800, and a gene with no functional annotation (Glyma.02g246300, are putative candidate PRR resistance genes. This study provides useful information for breeding P. sojae-resistant soybean cultivars.

  16. Improvement of goiter volume reduction after 0.3 mg recombinant human thyrotropin-stimulated radioiodine therapy in patients with a very large goiter: a double-blinded, randomized trial

    DEFF Research Database (Denmark)

    Bonnema, Steen; Nielsen, Viveque E; Boel-Jørgensen, Henrik

    2007-01-01

    INTRODUCTION: The effect of (131)I therapy amplification by recombinant human (rh) TSH prestimulation in very large goiters has not been evaluated in a double-blinded, placebo-controlled study. METHODS: Twenty-nine patients (22 females; age range 37-87 yr) with a large multinodular goiter (median...... 160 ml, range 99-440 ml) were randomized to receive placebo (n = 15) or 0.3 mg rhTSH (n = 14) 24 h before (131)I administration. Goiter volume was monitored by magnetic resonance imaging. RESULTS: On average, the goiter volume was unchanged 1 wk after therapy in both groups, but the largest deviations.......3 +/- 3.3%, respectively (between group: P relationship was absent in the rhTSH group. Adverse effects, mainly related to thyroid pain and cervical compression, were more...

  17. Genotype-by-sequencing facilitates genetic mapping of a stem rust resistance locus in Aegilops umbellulata, a wild relative of cultivated wheat.

    Science.gov (United States)

    Edae, Erena A; Olivera, Pablo D; Jin, Yue; Poland, Jesse A; Rouse, Matthew N

    2016-12-15

    Wild relatives of wheat play a significant role in wheat improvement as a source of genetic diversity. Stem rust disease of wheat causes significant yield losses at the global level and stem rust pathogen race TTKSK (Ug99) is virulent to most previously deployed resistance genes. Therefore, the objective of this study was to identify loci conferring resistance to stem rust pathogen races including Ug99 in an Aegilops umbelluata bi-parental mapping population using genotype-by-sequencing (GBS) SNP markers. A bi-parental F 2:3 population derived from a cross made between stem rust resistant accession PI 298905 and stem rust susceptible accession PI 542369 was used for this study. F 2 individuals were evaluated with stem rust race TTTTF followed by testing F 2:3 families with races TTTTF and TTKSK. The segregation pattern of resistance to both stem rust races suggested the presence of one resistance gene. A genetic linkage map, comprised 1,933 SNP markers, was created for all seven chromosomes of Ae. umbellulata using GBS. A major stem rust resistance QTL that explained 80% and 52% of the phenotypic variations for TTTTF and TTKSK, respectively, was detected on chromosome 2U of Ae. umbellulata. The novel resistance gene for stem rust identified in this study can be transferred to commercial wheat varieties assisted by the tightly linked markers identified here. These markers identified through our mapping approach can be a useful strategy to identify and track the resistance gene in marker-assisted breeding in wheat.

  18. The Condition of Thyroid and Fetoplacental Systems in Pregnant Women with Clinically Euthyroid Goiter

    Directory of Open Access Journals (Sweden)

    V N Petrova

    2007-03-01

    Full Text Available The aim is to study a condition of thyroid and fetoplacental systems at pregnant women with clinically euthyroid goiter. Materials and methods: 116 pregnant women have been included in the basic group with clinically euthyroid goiter. The control group was made by 60 pregnant women with physiologically proceeding pregnancy, not having anamnestic and the clinical data on diseases of the thyroid. Inspection included: definition of concentration thyroid-stimulating hormone (TSH and free thyroxine (fT4 by a radio-immunologic method, sets “RIA-gnost” (France and the maintenance of antibodies to thyroid peroxydase (anti-TPO by a method hard phase immune-enzyme analysis; ultrasonic assessment of a thyroid with the help of device SONOACE 8800 “GAIA MT”; ultrasonic fetometry, placentography, measurement of amniotic fluid volume, doppler ultrasound examination of the blood flow, an estimation of a functional condition of a fetus on parameters of its biophysical profile (BP and cardiotocography (CTG, carried out on device “Oxford Sonicaid Team S8000”. Results: At studying hormonal function thyroid systems at 25 pregnant (21.6% with euthyroid goiter in the third trimester of pregnancy a level fT4 norms were lower and had values from 4.5 up to 6.9 ng/ml, therefore an average level fT4 at pregnant women of the basic group was authentically lower, than in control (8.26 ± 0.30 and 10.71 ± 0.52 ng/ml, accordingly. At the retrospective analysis it is established, that only at 5 of 116 (4.3% pregnant women with a goiter were not complications pregnancy, at the others — 111 (95.7% took place a combination various obstetric complications: an anemia — at 72 (62.0%, threat noncarrying of pregnancy — at 75 (64.6 %, an early toxicosis — at 45 (38.6%, a gestosis — at 47 (40.5% which frequency authentically is higher, than in control group: 20.0%, 25.0%, 16.6%. 20.0%, accordingly, р < 0.05. Average Estimation CTG at patients of the basic group is

  19. Features of Mineral Metabolism Disorders in Patients with Multinodular Goiter after Thyroidectomy

    Directory of Open Access Journals (Sweden)

    V.Ya. Kashperska

    2015-08-01

    Full Text Available The features of calcium, phosphorus, parathyroid hormone and vitamin D indexes in patients with multinodular non-toxic goiter after thyroidectomy are presented in the article. It is found that age over 60 years, greater thyroid volume, lower 25(ОНD level before surgery, decline of parathyroid hormone level after surgery are the basic parameters that influence the development of hypocalcemia in patients with multinodular goiter after thyroidectomy. The level of 25(OHD below 20 ng/ml should be regarded as a specific and sensitive preoperative predictor of hypocalcemia after thyroidectomy, as well as persistent hypoparathyroidism. The level of parathyroid hormone after surgery below 10 pg/ml can be considered as a predictor of these conditions.

  20. Small cell lung cancer with metastasis to the thyroid in a patient with toxic multinodular goiter.

    Science.gov (United States)

    Ozgu, Eylem Sercan; Gen, Ramazan; Ilvan, Ahmet; Ozge, Cengiz; Polat, Ayşe; Vayisoglu, Yusuf

    2012-11-01

    Thyroid metastasis of lung cancer is rarely observed in clinical practice. The primary cancers which metastasize to the thyroid gland are mostly renal cell carcinoma, lung cancer, and breast cancer. Transient destructive thyrotoxicosis is caused by massive metastasis of extrathyroid tumors. We herein present a case report of a patient with small cell carcinoma of lung with metastasis to the thyroid and thyrotoxicosis due to toxic multinodular goiter. A 66-year-old man complained of swelling around the right side of the neck, dyspnea, progressive weight loss, and palpitation starting since 3 months before his admission. The patient was diagnosed with small cell carcinoma of lung with metastasis to the thyroid and thyrotoxicosis due to toxic multinodular goiter. The case report presented here illustrates the challenge of making a definitive and adequate diagnosis, particularly if the patient presents with 2 potential causes of thyrotoxicosis. Thyroid scintigraphy is an important tool for differential diagnosis of thyrotoxicosis.

  1. Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult inflammatory arthritic diseases.

    Science.gov (United States)

    Hinks, A; Bowes, J; Cobb, J; Ainsworth, H C; Marion, M C; Comeau, M E; Sudman, M; Han, B; Becker, M L; Bohnsack, J F; de Bakker, P I W; Haas, J P; Hazen, M; Lovell, D J; Nigrovic, P A; Nordal, E; Punnaro, M; Rosenberg, A M; Rygg, M; Smith, S L; Wise, C A; Videm, V; Wedderburn, L R; Yarwood, A; Yeung, R S M; Prahalad, S; Langefeld, C D; Raychaudhuri, S; Thompson, S D; Thomson, W

    2017-04-01

    Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases, comprising seven categories. Genetic data could potentially be used to help redefine JIA categories and improve the current classification system. The human leucocyte antigen (HLA) region is strongly associated with JIA. Fine-mapping of the region was performed to look for similarities and differences in HLA associations between the JIA categories and define correspondences with adult inflammatory arthritides. Dense genotype data from the HLA region, from the Immunochip array for 5043 JIA cases and 14 390 controls, were used to impute single-nucleotide polymorphisms, HLA classical alleles and amino acids. Bivariate analysis was performed to investigate genetic correlation between the JIA categories. Conditional analysis was used to identify additional effects within the region. Comparison of the findings with those in adult inflammatory arthritic diseases was performed. We identified category-specific associations and have demonstrated for the first time that rheumatoid factor (RF)-negative polyarticular JIA and oligoarticular JIA are genetically similar in their HLA associations. We also observe that each JIA category potentially has an adult counterpart. The RF-positive polyarthritis association at HLA-DRB1 amino acid at position 13 mirrors the association in adult seropositive rheumatoid arthritis (RA). Interestingly, the combined oligoarthritis and RF-negative polyarthritis dataset shares the same association with adult seronegative RA. The findings suggest the value of using genetic data in helping to classify the categories of this heterogeneous disease. Mapping JIA categories to adult counterparts could enable shared knowledge of disease pathogenesis and aetiology and facilitate transition from paediatric to adult services. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  2. Genotype-phenotype correlations of dyshormonogenetic goiter in children and adolescents from South India

    Directory of Open Access Journals (Sweden)

    Bangaraiah Gari Ramesh

    2016-01-01

    Full Text Available Background: Dyshormonogenetic goiter is one of the most common causes of hypothyroidism in children and adolescents in iodine nonendemic areas. The exact genotype-phenotypic correlations (GPCs and risk categorization of hypothyroid phenotypes of dyshormonogenetic mutations are largely speculative. The genetic studies in pediatric dyshormonogenesis are very sparse from Indian sub-continent. In this context, we analyzed the implications of TPO, NIS, and DUOX2 gene mutations in hypothyroid children with dyshormonogenetic hypothyroidism (DH from South India. Materials and Methods: This is interdisciplinary prospective study, we employed eight sets of primers and screened for 142 known single nucleotide polymorphisms in TPO, NIS, and DUOX2 genes. The subjects were children and adolescents with hypothyroidism due to dyshormonogenetic goiter. Congenital hypothyroidism, iodine deficiency, and Hashimoto's thyroiditis cases were excluded. Results: We detected nine mutations in 8/22 (36% children. All the mutations were observed in the intronic regions of NIS gene and none in TPO or DUOX2 genes. Except for bi-allelic, synonymous polymorphism of TPO gene in child number 14, all other mutations were heterozygous in nature. GPCs show that our mutations significantly expressed the phenotypic traits such as overt hypothyroidism, goiter, and existence of family history. Other phenotypic characters such as sex predilection, the age of onset and transitory nature of hypothyroidism were not significantly affected by these mutations. Conclusion: NIS gene mutations alone appears to be most prevalent mutations in DH among South Indian children and these mutations significantly influenced phenotypic expressions such as severity of hypothyroidism, goiter rates, and familial clustering.

  3. Euthyroid goiter with autonomy: Results of treatment with radioiodine (131I) and by surgery

    International Nuclear Information System (INIS)

    Emrich, D.; Reinhardt, M.

    1989-01-01

    In order to evaluate the efficacy of, and the risk associated with, the definite treatment of euthyroid goiter with autonomy, the data of 88 patients treated between 1982 and 1986 (50 by subtotal thyroidectomy; 38 by 131 I-treatment, mean radiation dose 200 Gy without protection by thyroxine) were analyzed in a retrospective study. The following criteria were used before and after treatment: the results of scintigraphy under suppression qualitatively (in focal autonomy) and quantitatively (global thyroid uptake) (TcU s ), the means of FT 4 I, FT 3 I and ΔTSH after TRH, the improvement of mechanical signs and symptoms and the decrease of thyroid volume. Measured by TcU s and ΔTSH, autonomy could be removed completely in 85-90% of all patients. Surgery was slightly more successful (100%) compared to treatment by 131 I (75-80%). This was also true for removal of mechanical symptoms and reduction of the goiter. The incidence of manifest hypothyroidism was greater after surgery (16%) than after 131 I treatment (3%). At a higher grade of autonomy (TcU s > 3.2%) surgery was more effective (95-100%) than treatment with 131 I (60-70%) but at a higher risk of hypothyroidism (24 vs 0%). It is imperative to improve the methods of estimating the amount of 131 I to be administered in euthyroid goiter with autonomy. Selection of patients with autonomy in euthyroid goiter for definite treatment is difficult, since until now their risk to become hyperthyroid cannot be predicted properly. (orig.) [de

  4. The importance of anti peroxidase antibodies in patients with nodular thyroid goiter

    Directory of Open Access Journals (Sweden)

    Medenica Sanja

    2012-01-01

    Full Text Available Introduction: Thyroid nodular goiter Nodular goiter is clinically recognizable restricted structure changes of the thyroid gland. Numerous studies show the relationship between thyroid autoimmunity and differentiated thyroid cancer in patients with nodular thyroid goiter. One of the important clinical marker in defining thyroid autoimmunity are antibodies to thyroid peroxidase. Objective: The aim of this study was to analyze the relationship between antibodies anti peroksidaznih ii thyroid malignancies in patients with thyroid altered thyroid. Material and Methods: We retrospectively reviewed the 248 reports of thyroid FNA cytology of samples obtained by puncture of patients with nodular thyroid goiter, at Department of thyroid gland, Department of Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of Serbia in the period from October 2007. by January 2010. year. We analyzed the relationship between findings of cytopathological diagnostic categories and serum concentrations of anti peroxidase antibodies. The data were statistically processed using the computer program SPSS 12.0 software package. Results: Of total 248 patients, 148 patients (59.7% had anti-TPO antibody values in a reference limits (30 IU/ml, and 40.3% elevated anti-TPO antibodies (over 30 IU/ml. In the group of patients with elevated values of anti-TPO antibodies 7% (7/100 of patients had malignant cytologic findings, and in the group of patients with anti-TPO antibody values in the normal range only 1.4% (2/148 of patients had malignant cytologic findings. Conclusion: Defining the relationship between thyroid autoimmune disease and differentiated thyroid cancer, providing new insights in the field of immunotherapy of thyroid carcinoma. Enlightening the molecular mechanisms link autoimmune thyroid disease and thyroid cancer development in patients with thyroid nodule help find new therapeutic strategies against thyroid cancer.

  5. Neonatal goiter with congenital thyroid dysfunction in two infants diagnosed by MRI

    International Nuclear Information System (INIS)

    Kondoh, Mutsuko; Miyazaki, Osamu; Imanishi, Yoshimasa; Hayakawa, Minako; Aikyou, Miho; Doi, Hiromi

    2004-01-01

    It is essential to diagnose thyroid dysfunction at an early stage because congenital hypothyroidism (CH) represents one of the most common preventable causes of delayed physical and psychological development, including mental retardation. US evaluates the shape of the thyroid gland. CT and scintigraphic examinations demonstrate iodine metabolism of the thyroid, but there is associated radiation exposure. We encountered two cases of congenital goiter, in which MRI was very helpful in confirming thyroid dysfunction and was very useful in making an accurate diagnosis. (orig.)

  6. Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9.

    Science.gov (United States)

    Ng, G Y; McDonald, T; Bonnert, T; Rigby, M; Heavens, R; Whiting, P; Chateauneuf, A; Coulombe, N; Kargman, S; Caskey, T; Evans, J; O'neill, G P; Liu, Q

    1999-03-15

    Query of the expressed sequence tag database with the rat metabotropic GABABR1A receptor amino acid sequence using the TFASTA algorithm revealed two partial cDNA fragments whose sequence information was then used to isolate by PCR a novel full-length human cDNA encoding a putative G-protein-coupled receptor (GPCR), termed GPR 51. Sequence analysis revealed that it encoded a protein of 941 amino acids, similar in size and homology to GABAB receptors followed by metabotropic glutamate receptors but not other GPCRs. GPR 51 expressed in COS-1 cells showed no specific binding for [3H](+)baclofen and when expressed in Xenopus oocyte and Xenopus melanophore functional assays showed no activity to GABA, (-)baclofen, and glutamic acid. Northern blot analysis and in situ hybridization revealed that GPR 51 transcripts were predominantly expressed in the central nervous system with highest abundance in the cortex, thalamus, hippocampus, amygdala, cerebellum, and spinal cord. In contrast, GPR 51 receptor transcripts were almost not detected in the peripheral tissues. Gene GPR 51 was localized by radiation hybrid mapping to chromosome 9, 4.81 cR from the WI-8684 marker, and proximal to the hereditary sensory neuropathy type 1 locus. Copyright 1999 Academic Press.

  7. Microsatellite-based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414

    Energy Technology Data Exchange (ETDEWEB)

    Sander, A.; Schmelzle, R. [Univ. of Hamburg (Germany); Murray, J.C. [Univ. of Iowa, Iowa City, IA (United States); Scherpbier-Heddema, T.; Buetow, K.H. [Fox Chase Center, Philadelphia, PA (United States); Weissenbach, J. [Institut Pasteur, Paris (France); Ludwig, K.; Zingg, M.

    1995-01-01

    Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder characterized by lip pits, clefting of the primary or secondary palate, and hypodontia. The gene has been localized, by RFLP-based linkage studies, to region 1q32-41 between D1S65-REN and D1S65-TGFB2. In this study we report the linkage analysis of 15 VWS families, using 18 microsatellite markers. Multipoint linkage analysis places the gene, with significant odds of 2,344:1, in a 4.1-cM interval flanked by D1S245 and D1S414. Two-point linkage analysis demonstrates close linkage of VWS with D1S205 (lod score [Z] = 24.41 at {theta} = .00) and with D1S491 (Z = 21.23 at {theta} = .00). The results revise the previous assignment of the VWS locus and show in an integrated map of the region 1q32-42 that the VWS gene resides more distally than previously suggested. When information about heterozygosity of the closely linked marker D1S491 in the affected members of the VWS family with a microdeletion is taken into account, the VWS critical region can be further narrowed, to the 3.6-cM interval between D1S491 and D1S414. 38 refs., 3 figs., 2 tabs.

  8. Fairly elevated incidence of goiter with marginally low urinary iodine in adolescents living in the north-western part of Tunisia

    International Nuclear Information System (INIS)

    El May, M.V.; Bourdoux, P.; Ben Slimane, F.; Ben Abdallah, M.; Mtimet, S.

    1997-01-01

    In order to study the etiology of endemic goiter in the north-western part of Tunisia, we examined 93 adolescents of this region. We measured urinary iodine concentrations, serum total thyroxine, total triiodothyronine, thyrotropin, thyroglobulin and antithyrogobulin antibody concentrations. The adolescents were questioned about their alimentary habits, the origin of their drinking water and the presence of known goiter(s) in their family. Among these adolescents, 49.5% of them had a goiter. Urinary iodine concentrations showed mild iodine deficiency. The serum determinations gave results within the reference ranges, without any significative differences between adolescents, with or without goiter. We found two risk factors: the age of adolescents, and the presence of a known goiter in the family. These results suggest that the actual prevention may not be adequate, or most likely that goitrogenic factors are to be looked for, especially in drinking water, since the majority of these adolescents drink no controlled water

  9. Fine-mapping of the human leukocyte antigen locus as a risk factor for Alzheimer disease: A case-control study.

    Science.gov (United States)

    Steele, Natasha Z R; Carr, Jessie S; Bonham, Luke W; Geier, Ethan G; Damotte, Vincent; Miller, Zachary A; Desikan, Rahul S; Boehme, Kevin L; Mukherjee, Shubhabrata; Crane, Paul K; Kauwe, John S K; Kramer, Joel H; Miller, Bruce L; Coppola, Giovanni; Hollenbach, Jill A; Huang, Yadong; Yokoyama, Jennifer S

    2017-03-01

    analyses of class I and II haplotypes further supported the role of class I haplotype A*03:01~B*07:02 (p = 0.03, OR = 1.11 [1.01-1.23]) and class II haplotype DRB1*15:01- DQA1*01:02- DQB1*06:02 (DR15) (p = 0.03, OR = 1.08 [1.01-1.15]) as risk factors for AD. We followed up these findings in the clinical dataset representing the spectrum of cognitively normal controls, individuals with mild cognitive impairment, and individuals with AD to assess their relevance to disease. Carrying A*03:01~B*07:02 was associated with higher CSF amyloid levels (p = 0.03, β ± standard error = 47.19 ± 21.78). We also found a dose-dependent association between the DR15 haplotype and greater rates of cognitive decline (greater impairment on the 11-item Alzheimer's Disease Assessment Scale cognitive subscale [ADAS11] over time [p = 0.03, β ± standard error = 0.7 ± 0.3]; worse forgetting score on the Rey Auditory Verbal Learning Test (RAVLT) over time [p = 0.02, β ± standard error = -0.2 ± 0.06]). In a subset of the same cohort, dose of DR15 was also associated with higher baseline levels of chemokine CC-4, a biomarker of inflammation (p = 0.005, β ± standard error = 0.08 ± 0.03). The main study limitations are that the results represent only individuals of European-ancestry and clinically diagnosed individuals, and that our study used imputed genotypes for a subset of HLA genes. We provide evidence that variation in the HLA locus-including risk haplotype DR15-contributes to AD risk. DR15 has also been associated with multiple sclerosis, and its component alleles have been implicated in Parkinson disease and narcolepsy. Our findings thus raise the possibility that DR15-associated mechanisms may contribute to pan-neuronal disease vulnerability.

  10. Mapping of quantitative trait locus (QTLs) that contribute to germination and early seedling drought tolerance in the interspecific cross Setaria italica×Setaria viridis.

    Science.gov (United States)

    Qie, Lufeng; Jia, Guanqing; Zhang, Wenying; Schnable, James; Shang, Zhonglin; Li, Wei; Liu, Binhui; Li, Mingzhe; Chai, Yang; Zhi, Hui; Diao, Xianmin

    2014-01-01

    Drought tolerance is an important breeding target for enhancing the yields of grain crop species in arid and semi-arid regions of the world. Two species of Setaria, domesticated foxtail millet (S. italica) and its wild ancestor green foxtail (S. viridis) are becoming widely adopted as models for functional genomics studies in the Panicoid grasses. In this study, the genomic regions controlling germination and early seedling drought tolerance in Setaria were identified using 190 F7 lines derived from a cross between Yugu1, a S. italica cultivar developed in China, and a wild S. viridis genotype collected from Uzbekistan. Quantitative trait loci were identified which contribute to a number of traits including promptness index, radical root length, coleoptile length and lateral root number at germinating stage and seedling survival rate was characterized by the ability of desiccated seedlings to revive after rehydration. A genetic map with 128 SSR markers which spans 1293.9 cM with an average of 14 markers per linkage group of the 9 linkage groups was constructed. A total of eighteen QTLs were detected which included nine that explained over 10% of the phenotypic variance for a given trait. Both the wild green foxtail genotype and the foxtail millet cultivar contributed the favorite alleles for traits detected in this trial, indicating that wild Setaria viridis populations may serve as a reservoir for novel stress tolerance alleles which could be employed in foxtail millet breeding.

  11. Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q

    Energy Technology Data Exchange (ETDEWEB)

    Wartenfeld, R.; Pras, E.; Pras, M. [Chaim Sheba Medical Center, Tel-Hashomer (Israel)] [and others

    1997-03-01

    Cystinuria is a hereditary disorder of amino acid transport and is manifested by the development of kidney stones. In some patients the disease is caused by mutations in the SLC3A1 gene, which is located on the short arm of chromosome 2 and encodes a renal/intestinal transporter for cystine and the dibasic amino acids. In Israel cystinuria is especially common among Jews of Libyan origin. After excluding SLC3A1 as the disease-causing gene in Libyan Jewish patients, we performed a genomewide search that shows that the Libyan Jewish cystinuria gene maps to the long arm of chromosome 19. Significant linkage was obtained for seven chromosome 19 markers. A maximal LOD score of 9.22 was obtained with the marker D19S882. Multipoint data and recombination analysis placed the gene in an 8-cM interval between the markers D19S409 and D19S208. Significant linkage disequilibrium was observed for alleles of four markers, and a specific haplotype comprising the markers D19S225, D19S208, D19S220, and D19S422 was found in 11 of 17 carrier chromosomes, versus 1 of 58 Libyan Jewish noncarrier chromosomes. 40 refs., 2 figs., 3 tabs.

  12. The zebrafish mutation m865 affects formation of dopaminergic neurons and neuronal survival, and maps to a genetic interval containing the sepiapterin reductase locus.

    Science.gov (United States)

    Ettl, Anne-Kathrin; Holzschuh, Jochen; Driever, Wolfgang

    2006-12-01

    The zebrafish mutation m865 was isolated during a large-scale mutagenesis screen aimed at identifying genes involved in the development and maintenance of subgroups of neurons in the zebrafish central nervous system. The phenotype of m865 mutant embryos shows defects in the development of dopaminergic neurons in the pretectum and of retinal amacrine cells, as well as abnormal caudal dopaminergic cluster in the diencephalon. The effects of the mutation appear not to be restricted to dopaminergic neurons, as development of other neurotransmitter systems (serotonergic and cholinergic) is impaired as well. Furthermore, increased apoptosis is localized to the m865 mutant retina and in the optic tectum starting at 24hpf, and may lead to the observed reduced size of the mutant head and eye. Early patterning is not affected in m865 mutant embryos, and expression of genes known to play a role in dopaminergic cell differentiation is normal except for reduced expression of nurr1 in the mutant retina. Thus the m865 mutation does not specifically affect dopaminergic neuron development. m865 was genetically mapped to linkage group 5, and the critical genomic interval could be narrowed down to a region of 110 kb, containing four candidate genes. For one of these candidate genes, sepiapterin reductase (spr), a requirement for neuronal survival has previously been implicated, including dopaminergic neurons. Identification of the mutated gene should lead to a more detailed understanding of the defects observed in m865 mutant embryos, and potentially could enhance the understanding of the development and maintenance of specific dopaminergic neuronal populations.

  13. The Prevalence of Goiter and Urinary Iodine Exertion in 7 – 10 year old School Children of Qom 2001 - 2002

    Directory of Open Access Journals (Sweden)

    R. Sheikholeslam

    2007-04-01

    Full Text Available Background and objectivesIodine deficiency was a public health problem in Iran before the start of iodine supplementation program in 1989. This study has been conducted in the framework of the national monitoring survey in 2001 to find the prevalence of goiter and urinary iodine levels in order to evaluate the effect of national supplementation program on the iodine status of school-aged children in the city of Qom. MethodsIn a descriptive, cross-sectional study, 1200 schoolchildren, aged 7-10 years, were selected randomly from all regions of Qom, and the grade of goiter was determined in 600 boys and 600 girls according to WHO classification. Urinary iodine content was estimated using the digestion method in one tenth of the schoolchildren.ResultsGoiter was observed in 26% of children (24.3% of girls and 27.7% of boys. The average urinary iodine level was 15.2 µg/dl. Urinary iodine levels higher than 10 μg/dl was measured in 71.7% and less than 5 µg/dl in 8.1% of children. Urinary iodine levels less than 2 μg/dl has not been observed in any of the cases. No significant difference was observed in prevalence of goiter and the urinary iodine level between males and females, and students in living in urban or rural areas.ConclusionComparison of these results with those of the year 1996 shows that prevalence of goiter has significantly decreased in these students. Also, it shows that in the city of Qom, the urinary iodine levels of schoolchildren fall in the standard range determined by WHO. This indicates that the iodine intake is adequate in the province of Qom. Therefore, this province can be considered as an “iodine deficiency-free” zone.Keywords: Goiter; Goiter Endemic; Iodine.

  14. Recombinant human TSH (rhTSH) as adjuvant in the treatment of multi nodular goiters with radioiodine: results on goiter reduction after 18 months

    International Nuclear Information System (INIS)

    Albino, Claudio C.; Gaviolli, Aroldo; Mesa, Cleo; Graf, Hans

    2005-01-01

    Full text: Introduction: Multi nodular goiter (MNG) is defined as a benign increase of the thyroid gland, happening in euthyroid individuals and areas without significant lack of iodine (1). The natural history of this entity is characterized by slow evolution, progressive increase of size, nodularity and glandular autonomy (2). Obstructive symptoms are frequent and the hyperthyroidism happens in about 10% of the cases, after 12 years of evolution. We demonstrated in our paper that rh TSH is a safe and efficient therapeutic tool in the treatment of MNG allowing the use of outpatient therapeutic 131 I doses (3) .Our goal in this study was to evaluate goiter reduction up to 18 months after a fixed, small 131 I dose with the aid of 0,1 mg rh TSH and compare with data obtained on 6 months. Patients and Methods: From September 2002 through May 2004, 14 MNG patients were evaluated. Diagnosis of MNG was done clinically and through ultrasound. They either had contraindications for surgery, or refused a surgical approach. The subjects' mean age was 68 years (range 45 to 82 years), and everyone was female. The thyroid volume was measured through helical CT (AUKELET -Toshiba). A 0.9 mg vial of rh TSH was diluted in 9 ml of sterile water for injection, and 1 ml (0,1 mg) of rh TSH was administered intramuscularly on day 1. On day 2, 24 hours after the rh TSH injection, a therapeutic dose of 30 mCi (1.11 GBq) of 131 I was administered to all patients. Results: The basal thyroid volume by CT scan was 121.1 +/- 45.4 and decreased to 66,7 +/- 47 ml 6 months after therapy, an average reduction of 45 +/-19% (p = 0.0004). After 18 months of therapy the thyroid volume was 57,6 ± 42 ml, an average reduction of 52 ± 15 %. Conclusion: rh TSH is an efficient and fast therapeutic tool in the treatment of MNG allowing the use of outpatient therapeutic 131 I doses. There was a little gain on reduction of goiter volume after 6 months. (author)

  15. Endogenous Locus Reporter Assays.

    Science.gov (United States)

    Liu, Yaping; Hermes, Jeffrey; Li, Jing; Tudor, Matthew

    2018-01-01

    Reporter gene assays are widely used in high-throughput screening (HTS) to identify compounds that modulate gene expression. Traditionally a reporter gene assay is built by cloning an endogenous promoter sequence or synthetic response elements in the regulatory region of a reporter gene to monitor transcriptional activity of a specific biological process (exogenous reporter assay). In contrast, an endogenous locus reporter has a reporter gene inserted in the endogenous gene locus that allows the reporter gene to be expressed under the control of the same regulatory elements as the endogenous gene, thus more accurately reflecting the changes seen in the regulation of the actual gene. In this chapter, we introduce some of the considerations behind building a reporter gene assay for high-throughput compound screening and describe the methods we have utilized to establish 1536-well format endogenous locus reporter and exogenous reporter assays for the screening of compounds that modulate Myc pathway activity.

  16. Effect of maternal iodine supplementation on thyroid function and birth outcome in goiter endemic areas.

    Science.gov (United States)

    Anees, Mariam; Anis, Riffat Aysha; Yousaf, Sohail; Murtaza, Iram; Sultan, Aneesa; Arslan, Muhammad; Shahab, Muhammad

    2015-04-01

    The study was undertaken to examine the clinical and endocrine parameters of thyroid in a total of 460 pregnant women belonging to non-goiter areas (group 1; n = 156) and endemic areas without (group 2; n = 154) and with iodine supplementation (group 3; n = 150), and their respective newborns. Women of group 3 with visible goiter were administered two capsules of iodized oil orally each containing 200 mg of iodine, from weeks 6--8 of pregnancy. Blood samples were obtained from all groups during each trimester, at parturition (umbilical cord blood) and after delivery. Serum triiodothyronine (T3), thyroxine (T4) and thyroid stimulating hormone (TSH) levels were measured by specific enzyme immunoassays. In group 2, serum T4 concentrations were low while T3 and TSH levels were high which showed hypothyroidism in the women of endemic areas. Goiter size decreased in most of the subjects who received a single dose of iodized oil and resulted in increase in serum concentrations of thyroid hormones; whereas, TSH levels decreased. Iodine supplementation also resulted in raised T4 and low TSH levels in the cord blood of neonates. During the course of study, two abortions, three still births and one cretin were reported in group 2; none was reported in group 3; and one still birth was reported in group 1. The oral administration of a single dose of iodized oil is capable of correcting iodine deficiency both clinically and endocrinologically in mothers and neonates. Iodine supplementation has the potential to positively impact the birth weight of newborns.

  17. Effects of ethiodol on T3 kinetics in endemic goiter area

    International Nuclear Information System (INIS)

    Watanabe, Tomas; Degrossi, O.J.; Zaninovich, A.A.; Altschuler, Noe; Degrossi, E.B.

    1986-01-01

    T3 kinetics were carried out in 32 children (11-15 years old) of a mild endemic goiter area. The incidence of goiter of the whole school population was 19% (Ia or Ib degree of the WHO). The mean urinary iodine was 84 μ g/d+-3. Six months before this investigation, 10 of the children received 2 ml of ethiodol by mouth and the other 22 (control group-CG) a placebo. The kinetics studies were carried out using less than 0,5 μ Ci of I-125 per Kg b.w. and the single injection method, non compartimental analysis. The CG shows, distribution volumen (V) 20.1+-0.6; serum T3 (sT3) 1.55 ng/ml+-0.03; plasma T3 T1/2 21.6+-0.6 and production rate (PR) 27.4μ g/d+-1.2. The treated group (TG): V, 17.3+-0.6; sT3 1.48 ng/ml+-0.09; T1/2 17.6+-0.6 and PR 25.9μ g/d+-1.4. The TG, after 6 months of ethiodol administration, showed a decrease of the distribution volume and a slight reduction in serum T3 values. As a consequence a significant diminution on the T3 extrathyroidal pool and an increase on the T3 plasma clearance (0.68 l/h+-0.01 in CG versus 0.73+-0.3 in TG) were observed. The production ratewas similar in both groups. These results indicate that the administration of ethiodol to children of a not severe endemic goiter area, produces moderate changes in the different parameters of T3 peripheral metabolism, which compensate each other and lead to similar final values on T3-PR, that were previously normal in these cases. This mechanism reflects the role of thyroid homeostasis in maintaining euthyroidism in these children of an endemic goiter area with decreased iodine supply. (Author) [es

  18. Case report: An interesting case of large colloid goiter with dyspnea

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    Jaya Prakasha Mayya

    2017-12-01

    Full Text Available Benign nodular goitre is one of the most common endocrine disorder, especially in countries like Nepal where iodine deficiency is endemic. Case History: A 59 years old female presented with large thyroid swelling. Investigations showed it to be colloid goiter compressing the airway. Left hemithyroidectomy was done. Post operative period was uneventful.Discussion: Management of thyroid nodules depends upon assessment of thyroid function, fine needle aspiration cytology and imaging. Surgery is the common method of treatment.   

  19. Increasing incidence of hypothyroidism within one year after radioiodine therapy for toxic diffuse goiter

    International Nuclear Information System (INIS)

    Von Hofe, S.E.; Dorfman, S.G.; Carrette, R.F.; Young, R.L.

    1978-01-01

    Patients treated with 10 mCi of I-131 for toxic diffuse goiter in the period January 1974--June 1976 were evaluated for development of hypothyroidism. Fifty percent were hypothyroid within 3 months and 69 percent within 1 year of treatment. Our data suggest that there is a higher incidence of hypothyroidism after standard doses of I-131 in the 1970s as contrasted with treatment groups in the 1950s and 1960s. The pathophysiology of this increased incidence is not known with certainty; however, infrequent use of thionamide medication, together with recent increases in dietary iodine, may render the gland more radiosensitive

  20. Recombinant human thyrotropin-stimulated radioiodine therapy of large nodular goiters facilitates tracheal decompression and improves inspiration

    DEFF Research Database (Denmark)

    Bonnema, Steen Joop; Nielsen, Viveque E; Boel-Jørgensen, Henrik

    2008-01-01

    to placebo (n = 15) or 0.3 mg rhTSH (n = 14) 24 h before (131)I therapy. The smallest cross-sectional area of the trachea (SCAT; assessed by magnetic resonance imaging) and the pulmonary function were determined before, 1 wk, and 12 months after therapy. RESULTS: Data on goiter reduction have been reported......INTRODUCTION: The impact on tracheal anatomy and respiratory function of recombinant human (rh)TSH-stimulated (131)I therapy in patients with goiter is not clarified. METHODS: In a double-blinded design, patients (age 37-87 yr) with a large multinodular goiter (range, 99-440 ml) were randomized...... previously. In the placebo group, no significant changes in the lung function or SCAT were found throughout the study. In the rhTSH group, a slight decrease was observed in the forced vital capacity 1 wk after therapy, whereas the mean individual change in SCAT was significantly increased by 10.5% (95...

  1. A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter

    DEFF Research Database (Denmark)

    Rossing, Maria; Gerdes, Anne-Marie; Juul, Anders

    2014-01-01

    ) of Danish ethnicity presented with both an ovarian Sertoli-Leydig cell tumor and a multinodular goiter at the age of 13 years. In addition, family history included a male sibling (case 2 patient) who also had a multinodular goiter and had undergone a hemithyroidectomy at the age of 14 years. Subsequent......INTRODUCTION: Germ-line mutations in the micro-ribonucleic acid processing gene DICER1 have been shown to predispose to a subset of benign tumors susceptible to malignant transformation, including ovarian Sertoli-Leydig cell tumor, nontoxic multinodular goiter, multilocular cystic nephroma...... and pleuropulmonary blastoma, which can occur in children and young adults. This may be due to reduced Dcr-1 homolog expression in carriers of germline mutations, which causes impairment of micro-ribonucleic acid processing and deregulates the growth and differentiation of target cells, leading to an increased risk...

  2. Goiter incidence in region of Katowice in relation to iodine deficiency and iodine prophylaxis (Katowice coordinating center).

    Science.gov (United States)

    Koehler, B; Kozłowska, A

    1993-01-01

    Geographical region of Katowice is situated in an upland built of carbonate rocks, often with predominance of loss. A randomized trial was carried out in the urban population of this area. 1080 children aged 7-13 were examined. In 505 urine iodine was measured. 17.5% of the examined children had enlarged thyroid glands (Ib, II, III) in palpation, 82.3% did not have goiter (O, Ia). Interviews with patients revealed that 48.8% of the examined children used iodized salt, while 51.2% did not. Mean urine iodine concentration was 70.6 micrograms/l. No correlation between use of iodized salt, urine iodine concentration, and goiter was found. However, prevalence of goiter and low urine concentration suggested deficiency of this microelement in the examined industrial region. Therefore there is need for further investigations and for a profound change of the existing ineffective iodine prophylaxis.

  3. Prestimulation with Recombinant Human Thyrotropin (rhTSH) Improves the Long-Term Outcome of Radioiodine Therapy for Multinodular Nontoxic Goiter

    DEFF Research Database (Denmark)

    Fast, Søren; Nielsen, Viveque Egsgaard; Grupe, Peter

    2012-01-01

    goiter volume reduction with rhTSH-augmented (131)I therapy improves the long-term reduction in goiter-related symptoms and reduces the need for additional therapy compared with plain (131)I therapy. Overall patient satisfaction is benefited, despite a higher rate of permanent hypothyroidism....

  4. A community-based case–control study to investigate the role of iron deficiency in the persistence of goiter

    Directory of Open Access Journals (Sweden)

    Rambha Pathak

    2016-01-01

    Full Text Available Objectives: To find out the magnitude of iron deficiency anemia in the age group of 6–12 years and investigate the role of iron deficiency as a possible contributor to endemic goiter in school children in Ambala. Materials and Methods: The present study was conducted as a subset of a cross-sectional study among 2700 children from 6 to 12 years of age to find out the prevalence of goiter. All the subjects who were found to be suffering from goiter in the cross-sectional study were enrolled in the case–control study as cases and were compared with age- and sex-matched controls (children without goiter from the same cohort. The study was conducted from February 2011 to January 2012. Results: Out of total, goiter was observed in 12.6% of the subjects. Urinary iodine excretion was found to be <100 μg/L in 57 (10.5% children. Mean hemoglobin (Hb level of the study population was 11.9 g/dL. It was noted that 71% of the goitrous children had anemia (Hb <12 g/dL as compared to 63.7% of the control group. Serum ferritin (SF was <15 ng/mL in 70% of the children. The mean ± standard deviation of SF in the goitrous and nongoitrous children was 19.65 ± 32.51 μg/L and 27.55 ± 21.07 μg/L, respectively (P = 0.012. Conclusion: The findings in the study suggest that iron deficiency anemia in children is contributing toward the persistence of goiter in the postiodization phase.

  5. Treatment of nodular goiter; Der Schilddruesenknoten. Medikamentoese Therapie der benignen Knotenstruma

    Energy Technology Data Exchange (ETDEWEB)

    Quadbeck, B. [Praxis fuer Endokrinologie, Duesseldorf (Germany)

    2008-09-15

    Benign thyroid nodules are common in iodine deficient countries like Germany. Current standard treatment of iodine deficient goiter is oral iodine and or levothyroxine but solid evidence on which to base dosage and duration of treatment is still missing. Recent studies have addressed a new pathogenic concept of a true neoplasia in thyroid nodules. Based on the pathogenesis, the effectiveness of thyroid hormone suppressive therapy in reducing volume of benign thyroid nodules is a matter of controversy since many years. It is necessary to clarify this therapeutic effect, because its use needs to be carefully weight against its potential deleterious effects in the skeletal and cardiovascular system e.g. in elderly patients. Iodine deficient goiter is the best option for medical treatment. Benign thyroid nodules displayed a slow but continous growth during long-term follow up. Treatment with levothyroxine and/or iodide did not significantly influence growth of nodules. From a therapeutic point of view, prevention of thyroid nodules in iodine deficient countries needs an early and different strategy than the therapy of existing nodules. (orig.)

  6. Correlation of color doppler image and thyroid function test in diffuse goiter

    International Nuclear Information System (INIS)

    Kim, Kyung Rak; Hong, Hyun Sook; Seo, Kwang Won; Jung, Mi Sun; Lee, Hae Kyung; Kwon, Kui Hyang; Choi, Deuk Lin; Yoo, Myung Hee

    1997-01-01

    To determine whether CDI can differentiate Graves' disease from other cases of thyroiditis and to determine the relationship between CDI findings and TFT. Between October, 1995 and January, 1996, 22 cases of diffuse goiter without nodule were prospectively assessed for CDI and TFT. CDI was classified into three groups:Grade 1 (minimal), Grade 2 (moderate), and Grade 3 (marked);TFT was also classified into three groups:decreased, normal, and increased thyroid function. The correlation between CDI and TFT was statistically assessed;each case was diagnosed by aspiration biopsy or clinical laboratory studies. All Graves' disease patients showed good correlation between marked color flows and increased thyroid function. The CDI findings of other cases of thyroiditis showed variable color flow and TFT. We found significant differences between the two disease groups. CDI can help differentiate Graves' disease from other cases of thyroiditis and additional assesment using TFT will help in the diagnosis of diffuse goiter. The 'thyroid inferno' pattern in not a specific finding of Graves' disease

  7. [Percutaneous ethanol injection in combination with euthyrox suppressive therapy in the treatment of benign nodular goiter].

    Science.gov (United States)

    Meskhi, I A; Sikharulidze, E N; Natmeladze, K V

    2007-05-01

    This study was designed to clarify the efficacy of combination of thyroid hormone (euthyrox) therapy and percutaneous ethanol injection (PEI) in benign nodular thyroid diseases. 55 patients with benign nodular goiter after the first PEI session during the whole study period (from 3 till 12 months after PEI) daily received euthyrox in a dosage - 50 mkg. 48 women and 7 men with thyroid nodules of the various sizes, structures and echogenecity have been included in the study group. The control group consisted of 32 patients: 29 women and 3 men in the same age range as in the study group. In both groups PEI procedure was performed but in the control group no thyroid hormone was added. In patients who were receiving 50 mkg daily after 3 months of PEI progressive reduction of the nodule sizes was registered, the volume of a thyroid gland has decreased and approached to normal parameters (15,79+/-1,21 ml), and in 6-2 months the normal volume of the thyroid gland was registered. Thus, combination of thyroid hormone therapy and percutaneous ethanol injection (PEI) in treatment of patients with benign nodular goiter normalizes the size of a thyroid gland. Euthyrox is the additional factor causing reduction of thyroid nodules and constraining occurrence of new nodules in a thyroid gland.

  8. Airway management of a difficult airway due to prolonged enlarged goiter using loco-sedative technique

    Directory of Open Access Journals (Sweden)

    Divya Srivastava

    2013-01-01

    Full Text Available Appropriate airway management is an essential part of anesthesiologist′s role. Huge goiters can lead to distorted airway and difficulty in endotracheal intubation. In this report, we present a case of a 67-year-old woman with a huge toxic multinodular thyroid swelling, gradually increasing in size for last 20 years, where trachea was successfully intubated. She had a history of deferred surgery in June 2007 due to inability to intubate, despite 5-6 attempts using different laryngoscopes, bougie, and stylet. Patient was re-admitted in December 2011 for the surgery and was successfully intubated this time with help of fiberoptic intubation using loco-sedative technique. Patient was electively kept intubated postoperatively in view of chances of tracheomalacia due to prolonged large goiter. She was extubated successfully on post-op day 2 after demonstration of leak around trachea following tracheal tube cuff deflation. The different techniques of managing the difficult airway in these patients are discussed.

  9. Surgery for thyroid goiter in western India. A prospective analysis of 334 cases.

    Directory of Open Access Journals (Sweden)

    Bapat R

    1993-10-01

    Full Text Available 334 consecutive cases of thyroid swellings operated by a single surgical unit over 9 years have been analysed prospectively. There was a female preponderence (4.39:1. The swellings were clinically differentiated into uninodular (39.52%, multinodular (47.31% and diffuse (13.17%. Hyperthyroidism was manifested in 49 cases (14.67%. Pressure symptoms were present in only 1.5% cases. FNAC detected malignancy in 14 of 162 cases (8.64%. The initial 100 cases were operated upon by standard Lahey′s technique and the latter 234 by modified technique described by Bapat et al for benign thyroid disease. Operations performed included nodulectomies (5.39%, hemithyroidectomies (41.92%, partial thyroidectomies (25.75%, subtotal (25.45% and near total thyroidectomies (1.5%. Post-operative complications were higher in the first group and included unilateral cord palsies-5 (5%. hypocalcemia-4 (4% hypoparathyroidism-1 (1% haemorrhage-1 (1% and mortality-1 (1% vis a vis cord palsies-2 (0.85%, hypocalcemia-3 (1.28%, hypoparathyroidism-1 (0.43% and there was no mortality. Histopathology revealed 83 (24.85% colloid goiters, 193 (57.78% nodular goiters, 21 (6.29% follicular adenomas, 7 (2.10% cases of thyroiditis and 30 (8.98% malignancies. This study reveals the lower incidence of RLN palsy after modified thyroidectomies, and a low incidence of malignancy.

  10. Comparative genomic mapping of the bovine Fragile Histidine Triad (FHIT tumour suppressor gene: characterization of a 2 Mb BAC contig covering the locus, complete annotation of the gene, analysis of cDNA and of physiological expression profiles

    Directory of Open Access Journals (Sweden)

    Boussaha Mekki

    2006-05-01

    Full Text Available Abstract Background The Fragile Histidine Triad gene (FHIT is an oncosuppressor implicated in many human cancers, including vesical tumors. FHIT is frequently hit by deletions caused by fragility at FRA3B, the most active of human common fragile sites, where FHIT lays. Vesical tumors affect also cattle, including animals grazing in the wild on bracken fern; compounds released by the fern are known to induce chromosome fragility and may trigger cancer with the interplay of latent Papilloma virus. Results The bovine FHIT was characterized by assembling a contig of 78 BACs. Sequence tags were designed on human exons and introns and used directly to select bovine BACs, or compared with sequence data in the bovine genome database or in the trace archive of the bovine genome sequencing project, and adapted before use. FHIT is split in ten exons like in man, with exons 5 to 9 coding for a 149 amino acids protein. VISTA global alignments between bovine genomic contigs retrieved from the bovine genome database and the human FHIT region were performed. Conservation was extremely high over a 2 Mb region spanning the whole FHIT locus, including the size of introns. Thus, the bovine FHIT covers about 1.6 Mb compared to 1.5 Mb in man. Expression was analyzed by RT-PCR and Northern blot, and was found to be ubiquitous. Four cDNA isoforms were isolated and sequenced, that originate from an alternative usage of three variants of exon 4, revealing a size very close to the major human FHIT cDNAs. Conclusion A comparative genomic approach allowed to assemble a contig of 78 BACs and to completely annotate a 1.6 Mb region spanning the bovine FHIT gene. The findings confirmed the very high level of conservation between human and bovine genomes and the importance of comparative mapping to speed the annotation process of the recently sequenced bovine genome. The detailed knowledge of the genomic FHIT region will allow to study the role of FHIT in bovine cancerogenesis

  11. Epidemiology of palpable goiter in Greater Buenos Aires, an iodine-sufficient area Epidemiología del bocio palpable en el Gran Buenos Aires, un área suficiente en yodo

    Directory of Open Access Journals (Sweden)

    Hugo Niepomniszcze

    2004-02-01

    Full Text Available The Hospital de Clínicas organized a free program of goiter detection by palpation. This campaign was aimed at the population of the metropolitan area of Greater Buenos Aires (11 million inhabitants, with the prerequisite that each participant should be quite unaware whether he/she was a carrier of any thyroid disease. Attendees were split into two groups, i.e., Random and Induced. The former consisted of 542 individuals who came to consultation due to mere curiosity, while the latter involved 500 subjects, comprising consanguineous family members of patients with thyroid disorders and also individuals who suffered from other ailments. Ages ranged from 2 to 85 years. In the Random Group, goiter prevalence of 8.7% was observed, while in the Induced Group it climbed to 14.4%. Since both groups were mostly made up of women (87.2%, a correction based on the masculinity index was applied to members of the Random Group. Thus, the total observed prevalence of goiter was 6%, diffuse goiters corresponding to 3.5% and nodular ones to 2.5%. The frequency of nodules increased with age, 90.5% occurring in those over 40 years. In the Induced Group, goiter prevalence among relatives of patients with thyroid disorders proved to be 13.1%, rising to 17.8% in those who suffered from other complaints. The epidemic data presented herein are the first arising from a screening survey carried out in a large iodine-sufficient population of the southernmost tip of the American continent. These results are useful to build up the world map of goiter prevalence in non-endemic areas.El Hospital de Clínicas organizó un programa gratuito para la detección de bocio por palpación. Esta campaña estuvo dirigida a la población del área metropolitana del Gran Buenos Aires, con el prerrequisito de que cada participante debía desconocer si padecía alguna enfermedad tiroidea. De acuerdo a las motivaciones que llevaron a los pacientes a la evaluación, se dividieron en 2

  12. INTELLECTUAL DEVELOPMENT OF THE SCHOOL STUDENTS WITH DIFFUSIVE CLINICALLY EUTHYROID GOITER IN THE REGIONS WITH DIFFERENT IODINE OCCURENCE

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    E.A. Troshina

    2009-01-01

    Full Text Available The article highlights the evaluation results of the IQ indices demonstrated by the school students, who reside in the regions with different degrees of the iodine deficiency severity and iodine provided regions. The authors performed the comparative analysis of the IQ indices among children with clinically euthyroid diffusive goiter and among children with normal sizes of the thyroid gland. The research included 260 children aged from 8 to 10 from 13 regions of the Russian Federation: 130 patients with the goiter diagnosed subject to the data of the ultrasound investigation and 130 children, who have normal sizes of the thyroid gland (reference group. The comparison groups were homogenous according to the education conditions (as only children from the city comprehensive schools took part in the research. For the evaluation of the intellectual development, authors used R. Kettell's intellect test free from the cultural impact (Сulture-Fair Intelligence Test, CFIT — CF 2А form. Despite the fact that the average IQ indices in the group of children with goiter were slightly lower than among children with normal sizes of the thyroid gland, the researchers failed to identify statistically significant differences between the average IQ indices among children in the compared groups (р > 0,05. Both in the group of children with goiter and in the reference group, the average IQ indices fell within «the low normal» (80–89 points.Key words: iodine, hypothyroidism, IQ intellect index, children.

  13. Radioimmune methods application to determining the functional state of STH-IGF-1 in adolescent boys with diffuse nontoxic goiter

    International Nuclear Information System (INIS)

    Turchina, S.Yi.

    2010-01-01

    The purpose of the study was to investigate the character of production of somatotropic hormone (STH) and insulin-like growth factor 1 in adolescent boys with diffuse nontoxic goiter. Blood serum STH, IGF-1, thyrotropin, thyroxin, triiodothyronine, testosterone, and estradiole level were investigated in 131 boys aged 14-17 with DNG using radioimmune method.

  14. [Surgical treatment of multinodular goiter at the Instituto Nacional de la Nutrición Salvador Zubirán].

    Science.gov (United States)

    López, L H; Herrera, M F; Gamino, R; González, O; Pérez-Enriquez, B; Rivera, R; Gamboa-Domínguez, A; Angeles-Angeles, A; Rull, J A

    1997-01-01

    Surgical treatment is the first option for patients with obstructive multinodular goiter. The extent of the resection and the use of postoperative hormonal therapy are, on the other hand, still under debate. To analyze the results of surgical treatment in 101 patient with multinodular goiter seen from 1980 to 1995. The clinical/pathologic charts of all patients were reviewed with emphasis to the clinical diagnosis, extent of resection, final histology, type and number of complications, and long-term follow-up. The mean follow-up was three years (range 0.5-12). Ten males and 91 females with a mean age of 46 years were included. Surgery was recommended for a nodule suspicious of malignancy in 60 patients, for airway compression in 33, and for cosmetic reasons in eight. Unilateral lobectomy was performed in 30, bilateral subtotal thyroidectomy in 55 and total thyroidectomy in 16. Postoperative hormone therapy was administrated to 83 patients. Surgical complications occurred in six patients. Four developed permanent hypoparathyroidism and two vocal cord paralysis. There was no operative mortality. A final diagnosis of multinodular goiter was established in 89 whereas 12 had cancer. There were three asymptomatic recurrences in the group with benign lesions (they had undergone unilateral lobectomy followed by hormonal therapy). Bilateral subtotal thyroidectomy was the best treatment for multinodular goiter in our series. This procedure had few complications and there was no recurrence of the disease.

  15. [Amyloid goiter].

    Science.gov (United States)

    Hrívó, A; Péter, I; Bánkúti, B; Péley, G; Baska, F; Besznyák, I

    1999-03-21

    Amyloid goitre is at an extremely rare occurrence. Authors review the origin of disease and its symptoms, diagnostic and therapeutic tools. The disease may be due to either primary or secondary systemic or local amyloidosis. Diagnosis may be made even before surgery on anamnestic data, on very rapid growth of thyroid glands, on diffuse appearance, on other symptoms of systemic amyloidosis, on findings of iconographic procedures and on detection of amyloid in aspirates. Final diagnosis is based on histology. Surgical therapy is aiming at avoidance of the existing and the threatening consequences of expanding mass. The outcome is independent from thyroid surgery, it is related to other manifestations of amyloidosis. Concerning with the present case the chronic superior vena cava syndrome and chylous pleural effusion as first described symptoms and asymptomatic hyperthyroxinaemia is emphasised. Neither other organ involvement, nor primary amyloidogenous molecula was found during the 18 months follow up, so patient has secondary and localised amyloidosis.

  16. [Analysis of predictors of malignancy of nodular goiters: about 500 cases].

    Science.gov (United States)

    Bouaity, Brahim; Darouassi, Youssef; Chihani, Mehdi; Touati, Mohamed Mliha; Ammar, Haddou

    2016-01-01

    Thyroid nodules are very common and less than 10% of them are malignant. They pose a serious diagnostic and therapeutic problem with respect to their benign or malignant nature. The study of some clinical and paraclinical factors for presumed malignancy makes it possible to codify appropriate therapeutic strategy. The aim of this study was to investigate predictors of malignancy in nodular goiters and to compare our results with those reported in the literature. This retrospective study consisted of 500 cases of nodular goiter operated in the Department of Otorhinolaryngology (ear, nose and throat or ENT) and Head and Neck Surgery at Avicenne military hospital in Marrakech between 2006 and 2012. The percentage of cancers was 6,8%. The average age of our patients was 46 years, with a sex-ratio of 5 (F/H). The hard nature of the nodule was present in 94,4% of the cases of cancer by palpation; irregular boundaries were present in 64.70% of the cases of cancer. Three nodules were fixed and malignant. Cervical lymphadenopathy were observed in 8 patients, 7 of which had cancer. Ultrasound examination showed hypoechoic appearance in 61,8% of the malignant nodules, with smooth-edges in 88,24% of the cases. Intranodular vascularization was found in 35,3% of the cases of cancers, with microcalcifications in 55,9% of the cases. Perinodular hypoechoic halo was incomplete in 73,5% of the cases of cancer. Our patients were euthyroid in 84,6% of the cases. Predictors of malignancy in nodular goiters were present in our first clinical study: patients over the age of 60 years, hard consistency of nodule, fixity, irregular and poorly defined character by palpation, as well as presence of cervical adenopathy on examination; and echographic features: hypoechoic character, smooth-edges, presence of microcalcifications and visualization of intranodular vascularization with or without peri-nodular vascularization. Although some of these factors are highly predictive of malignancy, only

  17. Iodine nutritional status and goiter prevalence in primary school children aged 6-12 of Panchmahal district, Gujarat, India

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    Vihang Mazumdar

    2010-06-01

    Full Text Available Introduction: Iodine deficiency disorders (IDD create major public health problems in India, including Gujarat. Panchmahal district is known for endemic iodine deficiency. The present study was conducted to (1 estimate the prevalence of goiter in primary school children, (2 determine median urinary iodine concentration, (3 assess the level of iodine in salt samples at the household and retail shop level, and (4 profile of salt sold at retail shops in Panchmahal district, Gujarat. Methods: A total of 70 students including five boys and five girls from 1st to 7th standard who were present on the day of the first visit were selected randomly for goiter examination from each village. Urine samples were collected from one boy and one girl from each standard in each cluster. From the community, at least 28 students, including two boys and two girls from each standard in the same age group, were examined, and salt samples were tested from their households. A total of 2100 students were examined in schools and 928 students were examined in the selected villages. From each village, one retail shop was visited, and salts purchased from those shops were immediately tested for iodine with spot kits.Results: Among young primary school children, goiter prevalence was 23.35% (grade 1—18.35%, grade 2—5.0%. As the ages increase, goiter prevalence also increases except for 9-year-olds. The median urinary iodine excretion level was 110 µg/L. An iodine level >15 ppm was found in 78.3% of the salt samples tested at household level. Conclusion: The present study showed considerable goiter prevalence in primary school children in Panchmahal district of Gujarat and an inadequate iodine content of salt at the household level.

  18. Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.

    Science.gov (United States)

    Monk, S; Sakuntabhai, A; Carter, S A; Bryce, S D; Cox, R; Harrington, L; Levy, E; Ruiz-Perez, V L; Katsantoni, E; Kodvawala, A; Munro, C S; Burge, S; Larrègue, M; Nagy, G; Rees, J L; Lathrop, M; Monaco, A P; Strachan, T; Hovnanian, A

    1998-01-01

    Darier disease (DD) (MIM 124200) is an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and by abnormal keratinization. We present linkage analysis showing, in four families, key recombination events that refine the location of the DD locus on chromosome 12q23-24.1 to a region of <1 cM. We have constructed a YAC/P1 artificial chromosome (PAC)/bacterial artificial chromosome (BAC)-based physical map that encompasses this refined DD region. The map consists of 35 YAC, 69 PAC, 16 BAC, and 2 cosmid clones that were ordered by mapping 54 anonymous sequence-tagged sites. The critical region is estimated to be 2.4 Mb in size, with an average marker resolution of 37.5 kb. The refinement of the critical interval excludes the ALDH2, RPL6, PTPN11, and OAS genes, as well as seven expressed sequence tags (ESTs) previously mapped in the DD region. The three known genes (ATP2A2, PPP1CC, and SCA2) and the 10 ESTs mapped within the critical region are not obvious candidates for the DD gene. Therefore, this detailed integrated physical, genetic, and partial transcript map provides an important resource for the isolation of the DD gene and, possibly, other disease genes. PMID:9529352

  19. A locus for isolated cataract on human Xp.

    Science.gov (United States)

    Francis, P J; Berry, V; Hardcastle, A J; Maher, E R; Moore, A T; Bhattacharya, S S

    2002-02-01

    To genetically map the gene causing isolated X linked cataract in a large European pedigree. Using the patient registers at Birmingham Women's Hospital, UK, we identified and examined 23 members of a four generation family with nuclear cataract. Four of six affected males also had complex congenital heart disease. Pedigree data were collated and leucocyte DNA extracted from venous blood. Linkage analysis by PCR based microsatellite marker genotyping was used to identify the disease locus and mutations within candidate genes screened by direct sequencing. The disease locus was genetically refined to chromosome Xp22, within a 3 cM linkage interval flanked by markers DXS9902 and DXS999 (Zmax=3.64 at theta=0 for marker DXS8036). This is the first report of a locus for isolated inherited cataract on the X chromosome. The disease interval lies within the Nance-Horan locus suggesting allelic heterogeneity. The apparent association with congenital cardiac anomalies suggests a possible new oculocardiac syndrome.

  20. Results of radioiodine therapy of manifest hyperthyroidism and autonomous euthyroid goiter

    International Nuclear Information System (INIS)

    Berding, G.; Schicha, H.

    1990-01-01

    In 200 patients follow-up examinations were performed up to one year after radioiodine therapy (RITh) with individual dose calculation. The mean applied dose was significantly lower in patients with immunogenic hyperhyroidism (Graves' disease) as compared to patients with non-immunogenic hyperthyroidism (disseminated/multifocal autonomy, HYDA). In Graves' disease the rate of recurrent hyperthyroidism was significantly higher and that of posttreatment hypothyroidism lower. Considering the high recurrence rate in Graves' disease a higher dose, e.g. 150 Gy, seems to be appropriate. In patients with HYDA who received antithyroid drugs during RITh, recurrence of hyperthyroidism appeared slightly more, and posttreatment hypothyroidism slightly less, frequent. The efficiency of RITh was not significantly reduced by additional treatment with antithyroid drugs. Posttreatment hypothyroidism in patients with euthyroid goiter and disseminated/multifocal autonomy (EUDA) occurred significnatly more frequent if the basal TSH level was ≥ 0.5 μIE/ml before therapy. The goiter size was reduced independent of the basal TSH level. In HYDA patients after thyroid surgery recurrence appeared less, and in those with EUDA posttreatment hypothyroidism significantly more, frequent. A lower dose seems to be suitable in patients who underwent thyroid surgery before. In patients with focal autonomy after RITh no recurrence of hyperthyroidism was observed. In 9% a suppressed basal TSH level indicating persistent autonomy was seen. Posttreatment hypothyroidism in focal autonomy appeared only in patients without manifest hyperthyroidism before RITh and was significantly more frequent in this group. In patients with focal autonomy who developed hypothyroidism the dose calculation was based on a significantly higher volume of the adenoma. (orig./MG) [de

  1. Effects of the Thyroid Status Correction on the Functional State of Digestive System in Children with Diffuse Nontoxic Goiter

    Directory of Open Access Journals (Sweden)

    M.Ye. Mamenko

    2013-11-01

    Full Text Available Objective: to study the effects of the diffuse non-toxic goiter treatment on the functional state of the digestive system in children. Materials and methods. The screening survey was based on lunior comprehensive schools (695 children aged 5–11 years: questioning of families, anthropometry and examination of children, detection of ioduria, palpation of the thyroid gland. In-depth examination of children with goiter (n = 88: ultrasonography of the thyroid gland and the digestive system, determination of levels of thyroid stimulating hormone, free thyroxine, serotonin, melatonin, vasoactive intestinal peptide. Results. The high incidence of non-toxic diffuse goiter (25.8 %, associated with a reduction in functional activity of the thyroid gland to the minimum thyroid dysfunction (42.0 % and subclinical hypothyroidism (10.2 %, was detected in school-aged children. The presence of goiter leads to a static increase of the chances for functional gastrointestinal disorders developing (odds ratio 2.33, p = 0.000, mainly due to the hypokinetic conditions. The administration of potassium iodide preparations leads to the decreasing in goiter rate in high compliance up to the 27.3 % and to the normalization of the functional state of the pituitary-thyroid system (thyroid stimulating hormone — 1.66 mIU/L, that is associated with increased level of serotonin (6.14 ng/ml and vasoactive intestinal peptide (117.86 ng/ml and decreased melatonin concentration (2.5 pmol/l. In children who consistently for six months received preparations of potassium iodide, along with the normalization of thyroid status we noted the decrease of the frequency of complaints from the digestive system. Conclusions. The treatment of diffuse nontoxic goiter by potassium iodide preparations allows to achieve reduction of thyroid size and to normalize functional activity of thyroid-pituitary system. Increase in the functional activity of the pituitary-thyroid system helps reduce the

  2. Quality-of-Life Impairments Persist Six Months After Treatment of Graves' Hyperthyroidism and Toxic Nodular Goiter

    DEFF Research Database (Denmark)

    Cramon, Per; Winther, Kristian Hillert; Watt, Torquil

    2016-01-01

    in toxic nodular goiter. In Graves' hyperthyroidism, large treatment effects were observed on three ThyPRO scales (Hyperthyroid Symptoms, Tiredness, Overall HRQoL) and moderate effects on three scales (Anxiety, Emotional Susceptibility, Impaired Daily Life), while moderate effects were seen in two Thy......Background: The treatment of hyperthyroidism is aimed at improving health-related quality of life (HRQoL) and reducing morbidity and mortality. However, few studies have used validated questionnaires to assess HRQoL prospectively in such patients. The purpose of this study was to assess the impact...... of hyperthyroidism and its treatment on HRQoL using validated disease-specific and generic questionnaires. Methods: This prospective cohort study enrolled 88 patients with Graves' hyperthyroidism and 68 with toxic nodular goiter from endocrine outpatient clinics at two Danish university hospitals. The patients were...

  3. Evaluation of Goiter Prevalence and Iodine to Creatinine Ratio among School-aged Girls in Urmia County

    Directory of Open Access Journals (Sweden)

    J nourooz-zadeh

    2013-03-01

    Full Text Available Introduction: Clinical evaluation of iodine deficiency disorders (IDDs is often accomplished by assessment of urinary iodine excretion (UIE in random samples; however, the utilization of 24 hour urine samples is a more reliable biomarker of nutritional iodine status. This study was designed to evaluate total goiter prevalence (TGP and iodine/creatinine ratio among school-aged children in Urmia County. Methods: Schoolchildren (n=500 were recruited by cluster sampling from different educational areas in Urmia County. Goiter prevalence was assessed by thyroid palpation, UIE was determined by Sandell-Koltoff reaction, and Urinary creatinine was measured by the Jaffe-method. Results: In general, TGP was 12.2%. Among these, there were 48 individuals (9.6% with grade I goiter and 13 subjects (2.6% with grade II goiter. Mean urinary creatinine, median UIE and median I/Cr ratio were respectively 1.36±0.76 mg/dL, 14.3µg/dL, and 11.5µg/mg. Prevalence of iodine deficiency according to UIE criteria was 22.8% and that of I/Cr ratio was 41.2%. There was a correlation between age and UIE (P=001; r=0.163. UIE and urinary creatinine were correlated as well (P<0.003; r= 0.133. A correlation was also detected between I/Cr ratios and UIE (P=0.003; r=0.133 whilst a negative association was seen between age and I/Cr ratios (P=0.001; and r=–0.263. Conclusion: This investigation reconfirms that there is slight-to-mild iodine deficiency in Urmia County. The utilization of I/Cr ratio in conjugation with UIE and palpation may provide a better assessment in investigating nutritional iodine status.

  4. Management of multinodular goiter in Germany (Papillon 2005). Do the approaches of thyroid specialists and primary care practitioners differ?

    Energy Technology Data Exchange (ETDEWEB)

    Dietlein, M.; Schmidt, M.; Schicha, H. [Koeln Univ. (Germany). Dept. of Nuclear Medicine; Wegscheider, K. [Hamburg Univ. (Germany). Inst. of Statistics and Econometrics; Vaupel, R. [Sanofi-Aventis Deutschland GmbH, Berlin (Germany)

    2007-07-01

    Aim: Large-scale survey to focus on management of multinodular goiter and to compare the approaches of practitioners in primary care and thyroid specialists in Germany. Methods: Replies to a questionnaire were received from 2,191 practitioners and 297 thyroid specialists between June 1 and September 30, 2005. The hypothetical cases and their modifications described multinodular goiters of different sizes with and without toxic nodules. Results: In the workup, TSH determination and thyroid sonography were found to be standard procedures. Scintigraphy was selected by 80.2% of practitioners and 92.9% of specialists (p <0.001), in preference to fine needle aspiration cytology (17.9% of practitioners and 34.5% of the specialists, p <0.001). Only 6.1% of practitioners and 24.4% of specialists (p <0.001) advocated calcitonin screening. Euthyroid multinodular goiter (50-80 ml) was treated medically by 67.1% of practitioners and 65.6% of specialists, the combination of levothyroxine with iodine being clearly preferred (54.5% of practitioners, 52.3% of specialists). For toxic nodular goiter the preference for radioiodine therapy was significantly higher (p <0.001) among specialists (67.7%) than among practitioners (47.5%). Referral to surgery was recommended for cold nodules with negative cytology by 64.9% of practitioners and 73.5% of specialists (p = 0.004). Conclusions: Treatment and diagnostic procedures are used to nearly the same extent in primary care and specialist institutions, but the opinions diverge over the issues of calcitonin screening and referral for radioiodine therapy. (orig.)

  5. Antithyroid effects in vivo and in vitro of babassu and mandioca: a staple food in goiter areas of Brazil.

    Science.gov (United States)

    Gaitan, E; Cooksey, R C; Legan, J; Lindsay, R H; Ingbar, S H; Medeiros-Neto, G

    1994-08-01

    Babassu (Orbignya phalerata), a palm-tree coconut fruit, mixed with mandioca (Manihot utilissima) is the staple food of people living in the endemic goiter area of Maranhao in Brazil, where goiter prevalence among schoolchildren was still 38% in 1986 despite an adequate iodine intake in most of the population. Therefore, the question arose as to whether or not the ingestion of babassu alone or mixed with mandioca contributed to the persistence of endemic goiter in this area of Brazil. In this investigation we examined the potential antithyroid effects of babassu and mandioca by means of in vivo studies in Sprague-Dawley rats, in vitro studies in porcine thyroid slices and using a purified porcine thyroid peroxidase (TPO) system. Samples of various edible parts of babassu and mandioca flour were homogenized and extracted in goitrogen-free water (GFW) for in vivo experiments, and in methanol (100 g/l), GFW or 0.06 mol/l phosphate buffer (pH 7.0) for in vitro experiments. The edible parts of babassu produced significant in vivo antithyroid effects (p < 0.05- < 0.001) in rats on a high iodine intake (14 micrograms I- day-1.rat-1), as well as distinct and reproducible antithyroid and anti-TPO activities in both in vitro systems, their action being similar to that of the thionamide-like antithyroid drugs propylthiouracil and methimazole.(ABSTRACT TRUNCATED AT 250 WORDS)

  6. Bocio retrotraqueal: presentación de un caso Retrotracheal goiter: a case presentation

    Directory of Open Access Journals (Sweden)

    Edelberto Fuentes Valdés

    2007-06-01

    Full Text Available Los pacientes con bocio localizado en el mediastino posterior deben ser sometidos a resección quirúrgica por la posibilidad de compromiso de los órganos vecinos o de malignidad. Se presenta el caso de un paciente previamente operado por un bocio con probable prolongación endotorácica que fue intervenido pero continuó con manifestaciones de compresión traqueal. Tras una segunda operación fallida, ahora por vía transesternal, fue remitido a nuestro servicio por una estenosis traqueal isquémica. En el estudio preoperatorio se demostró que se mantenía una masa tumoral aproximadamente de 10 cm, retrotraqueal, que comprimía y deformaba la tráquea. Además presentaba osteomielitis del esternón. Fue intervenido mediante toracotomía derecha y se logró extirpar alrededor de 95 % de la masa tumoral. El estudio radiofarmacológico posoperatorio no demostró captación del isótopo en el mediastino. Se hacen consideraciones sobre la indicación de la cirugía y las vías de abordaje utilizadas. Al momento de preparar este manuscrito (6 meses después de la operación el paciente se encuentra bien, en espera del tratamiento definitivo de la estenosis traqueal isquémicaPatients with posterior mediastinal goiter should be subjected to surgical resection because of the possibility of affecting neibouring organs or developing malignacy. This paper presented the case of a patient that had been previously operated from a goiter with possible endothoracic prolongation but continued suffering tracheal compression. After a second failed transternal surgery, he was refered to our service with ischemic tracheal stenosis. The preoperative study showed a 10cm retrotracheal tumoral mass that pressed and distorted the trachea. He also had sternal osteomyelitis. Then, he underwent right thoracotomy and roughly 95% of the mass was removed. The post-surgical radiopharmacological study did not reveal isotope uptake in the mediastinum. Surgery indications and

  7. Adverse Reactions to Radioiodine 131I Therapy of Goiter in West African Tertiary Hospital

    Directory of Open Access Journals (Sweden)

    Yetunde A. Onimode

    2016-10-01

    Full Text Available Objective: Radioactive iodine therapy (RAIT is established as an efficient means of treating toxic goiter (TG globally. The field of nuclear medicine (NM still appears novel to many Nigerian clinicians and patients. A culturally embedded dread of radiation may raise ethical and moral concerns about potential adverse effects in the wake of RAIT in our setting. An adverse drug reaction may be described as “a response to a drug which is noxious and unintended, and which occurs at doses normally used in man”. This study therefore, seeks to review adverse reactions (ARs experienced following RAIT. We would also like to improve patient and physician education about the safety profile of RAIT. Methods: This is a retrospective analysis of all patients who had received RAIT for thyroid disease from August 2006 to June 2015. Results: Forty typical ARs were experienced following 36 therapy sessions (18.65% with RAIT in 35 patients (21.47% aged 17-78 years, of which three had multiple sessions for well-differentiated thyroid carcinoma (WDTC. Conclusion: RAIT remains a safe option for the treatment of benign and TG. The experienced ARs are mainly mild to moderate in severity and mostly short-lived. As larger doses of radioactive iodine for WDTC and TG were more commonly associated with ARs, our study suggests that these patients merit stronger prophylactic measures as well as closer monitoring for earlier detection and management of these reactions.

  8. Correlation between serum lead and thyroid diseases: papillary thyroid carcinoma, nodular goiter, and thyroid adenoma.

    Science.gov (United States)

    Li, Hui; Li, Xiang; Liu, Jie; Jin, Langping; Yang, Fan; Wang, Junbo; Wang, Ouchen; Gao, Ying

    2017-10-01

    Studies have showed that lead was associated with human health. However, the effects of lead on thyroid functions are inconsistent, and studies based on Chinese population are fragmentary. To evaluate the correlation between lead and thyroid functions of Chinese with different thyroid diseases, we conducted a hospital-based study. Ninety-six papillary thyroid carcinoma (PTC), 10 nodular goiter (NG), and 7 thyroid adenoma (TA) patients were recruited from the First Affiliated Hospital of Wenzhou Medical University, China. Serum triiodothyronine (T3), free triiodothyronine (FT3), free thyroxin (FT4), and thyroid stimulating hormone (TSH) were evaluated with chemiluminescent microparticle immunoassay. Serum lead was assessed with ICP-MASS. Partial correlation was used to explore the correlations of serum lead and thyroid diseases. Compared to PTC, the level of lead was significantly higher in TA, and lower in NG (p lead was negatively correlated with TSH (r s  =  - 0.27, p lead at quartile4 (r s  = 0.61, p lead and FT3 or FT4 in any group. The results suggested that lead might have different etiological roles in these three thyroid diseases.

  9. Ghrelin and obestatin in thyroid gland - immunohistochemical expression in nodular goiter, papillary and medullary cancer.

    Science.gov (United States)

    Gurgul, Edyta; Kasprzak, Aldona; Blaszczyk, Agata; Biczysko, Maciej; Surdyk-Zasada, Joanna; Seraszek-Jaros, Agnieszka; Ruchala, Marek

    2015-01-01

    Previous studies analyzing ghrelin and obestatin expression in thyroid gland tissue are not unanimous and are mostly related to ghrelin. The role of ghrelin and obestatin in the thyroid gland appears very interesting due to their probable involvement in cell proliferation. Furthermore, since the thyroid gland is associated with the maintenance of energy balance, the relationship between ghrelin, obestatin and thyroid function is worthy of consideration. The aim of the study was to assess ghrelin and obestatin immunocytochemical expression in nodular goiter (NG), papillary cancer (PTC) and medullary cancer (MTC). Analyzed samples included 9 cases of NG, 8 cases of PTC and 11 cases of MTC. The analysis of ghrelin and obestatin expression was performed by use of the immunohistochemical (IHC) EnVision system and evaluated with filter HSV software (quantitative morphometric analysis). Quantitative ghrelin expression in MTC cells was higher than in NG (p = 0.013) and correlated negatively with the size of the tumor (r= -0.829, p thyroid cell proliferation. The differences between ghrelin and obestatin immunoreactivity in benign and malignant thyroid tumors could support the theory of alternative transcription of the preproghrelin gene and independent production of ghrelin and obestatin.

  10. Development of molecular map and identification of QTLs linked to ...

    Indian Academy of Sciences (India)

    2015-12-01

    Dec 1, 2015 ... Mayer et al. (1997) first reported linkage of an allele-specific marker. (CS27A) to H1 locus of FOC 1. However, the mapping pop- ulation segregate for only H2 locus and late wilting and the. Table 1. Features of linkage map developed using SSR markers and intraspecific mapping population derived from a ...

  11. Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter.

    Science.gov (United States)

    Al-Faisal, A H M; Al-Ramahi, I J; Abudl-Hassan, I A; Hamdan, A T; Barusrux, S

    2014-01-01

    Sixty-three Arabic patients (16 males and 47 females) with thyroid toxic and nontoxic goiter who attended the endocrinologist in Nuclear Medicine Hospital and Al Yarmok Nuclear Medicine Department in Baghdad, Iraq were examined for thyroid peroxidase (TPO) gene mutations. A total of ten heterozygous mutations have been identified in the human TPO gene associated with thyroid toxic and nontoxic goiter. These mutations involved transition or transversion of cysteine either by thymine or guanine at the position 1708 of the exon 10 (c.1708C>T) and the position 1978 of the exon 11 (c.1978C>G). From a total of ten detected mutations, two c.1978C>G mutations were detected in nontoxic goiter patients and eight (two c.1708C>T and six c.1978C>G mutations) were detected in toxic goiter. In conclusion, this study identified ten TPO mutations associated with toxic and nontoxic goiter that have not been yet reported in Iraq, and most of them are detected among females (90 %) and adults age between 30 and 50 years old (80 %).

  12. Pobreza y Locus de Control

    Directory of Open Access Journals (Sweden)

    Joaquina Palomar Lever

    2004-01-01

    Full Text Available En este trabajo se busco conocer si existen diferencias en el locus de control según el nivel de pobreza en una población de 900 personas clasificadas en tres grupos: pobres extremos, pobres moderados y no pobres. Los sujetos estudiados compartieron la característica de ser personas económicamente independientes. Para este estudio se utilizaron como instrumentos de medición, un cuestionario sociodemográfico y una escala de locus de control. Los resultados muestran que los grupos de mayor ingreso familiar así como el grupo de no pobres y el de pobres moderados presentan en mayor medida un locus de control interno, mientras que el grupo de pobres extremos un mayor locus de control externo; por otro lado se observó que las personas de sexo masculino así como los de más edad (36 a 72 años presentan un locus de control más interno que aquellas personas de sexo femenino y de menor edad (19 a 35 años. Además, las personas con mayor nivel educativo (licenciatura y postgrado presentan una mayor tendencia hacia la internalidad en comparación con las personas de menor nivel educativo (sin escolaridad, primaria, secundaria y preparatoria. A su vez, se observó que la escolaridad de los padres influye en el locus de control. En términos generales, las variables que mejor predicen el locus de control fueron el ingreso familiar y la escolaridad de los sujetos

  13. [Epidemiological parameters in the evaluation of endemic goiter in the Republic of North Ossetia-Alania].

    Science.gov (United States)

    Tsabolova, Z T; Zangieva, O D; Basieva, O O

    2013-01-01

    To study the incidence of endemic goiter among urban and rural schoolchildren in the Republic of North Ossetia-Alania (RNO-Alania). 1198 urban (637 girls and 561 boys) and 227 rural (137 girls and 90 boys) adolescents aged 13-16 years were examined. All the adolescents underwent thyroid palpation. Thyroid ultrasound study (USS) was performed using an ALOKA SSD-500 scanner (Japan) with a 7.5-mHz transducer. Ioduria levels were measured by the cerium-arsenite method. Thyroid function was evaluated from the content of circulating hormones, such as total triiodothyronine (T3), free thyroxin (free T4), and thyrotrophic hormone (TTH), by using the Alkor-Bio enzyme immunoassay kits. Varying degrees of iodine deficiency were found in the RNO-Alania. Median urban and rural ioduria was 52.1 and 60.7 microg/l, respectively; which corresponded to mild iodine deficiency. Analysis of the gender-specific findings revealed that moderate ioduria was identified in a larger number of girls and mild iodine excretion was detected in most boys. The rate of increased thyroid dimensions was also higher in the boys than in the girls in both the urban and rural areas. Examining the hormone profile revealed a euthyroid state in virtually all schoolchildren. The levels of TTH, free T4, and T3 did not exceed the normal range. The families consuming iodized salt were 46.2 and 47.7% in the urban and rural areas, respectively. The findings allow one to give an additional insight into the specific features of formation of a goitrous endemic in the RNO-Alania and may serve as the basis for further investigations and development of pathogenetically sound approaches to treating and preventing iodine deficiency states.

  14. Intrathoracic Goiter. A Case Report Bocio endotorácico. Presentación de un caso

    Directory of Open Access Journals (Sweden)

    José Alberto Puerto Lorenzo

    2013-06-01

    Full Text Available Goiter is an enlargement of the thyroid gland in the anterolateral part of the neck. It is estimated that approximately 3 % of the population worldwide suffer from this condition, although the incidence of nodular goiter has decreased in some countries due to the intake of iodized salt and iodine-rich food. A case of a 59 year-old female patient who attended consultation with an enlargement of the neck, accompanied by weakness, palpitations and dysphagia is presented. After being examined, she underwent surgery which confirmed the diagnosis of intrathoracic goiter. Since this is a rare pathology, it is of scientific interest for professionals dealing with the study and treatment of thyroid conditions.Se denomina bocio al aumento de volumen de la glándula tiroides en la región antero-lateral del cuello. Se calcula que aproximadamente el 3 % de los pobladores del mundo lo tienen, aunque la incidencia del bocio nodular ha disminuido debido a la ingestión en algunos países de sal yodada y alimentos ricos en yodo. Se presenta el caso de una paciente de 59 años que acudió a consulta por presentar aumento de volumen del cuello, acompañado de decaimiento, palpitaciones y disfagia, la cual después de ser estudiada en consulta fue intervenida quirúrgicamente, en la que se corroboró el diagnóstico de un bocio endotorácico. Por ser esta patología poco frecuente, se considera de interés científico para los profesionales dedicados al estudio y tratamiento de las afecciones tiroideas.

  15. Increasing incidence of hypothyroidism within one year after radioiodine therapy for toxic diffuse goiter. [/sup 131/I

    Energy Technology Data Exchange (ETDEWEB)

    Von Hofe, S.E.; Dorfman, S.G.; Carrette, R.F.; Young, R.L.

    1978-02-01

    Patients treated with 10 mCi of I-131 for toxic diffuse goiter in the period January 1974--June 1976 were evaluated for development of hypothyroidism. Fifty percent were hypothyroid within 3 months and 69 percent within 1 year of treatment. Our data suggest that there is a higher incidence of hypothyroidism after standard doses of I-131 in the 1970s as contrasted with treatment groups in the 1950s and 1960s. The pathophysiology of this increased incidence is not known with certainty; however, infrequent use of thionamide medication, together with recent increases in dietary iodine, may render the gland more radiosensitive.

  16. Usefulness of SPECT/CT in the Diagnosis of Intrathoracic Goiter versus Metastases From Cancer of the Breast

    DEFF Research Database (Denmark)

    Dümcke, Christine Elisabeth; Madsen, Jan Lysgård

    2007-01-01

    A 77-year-old woman was referred because of local reoccurrence of cancer of the breast. Chest x-ray showed a mediastinal tumor with dislocation of the trachea to the right. A Tc-99m pertechnetate scan showed irregular tracer uptake in an enlarged left lobe of the thyroid gland. Ultrasound confirmed...... the diagnosis of a nodular goiter with intrathoracic growth of the left lobe. A SPECT/CT scan of the mediastinum clearly showed that the soft tissue tumor was the left lobe of the thyroid gland, and not lymphatic metastases....

  17. Systemic oxidative stress to nucleic acids is unaltered following radioiodine therapy of patients with benign nodular goiter

    DEFF Research Database (Denmark)

    Bonnema, Steen J; Stovgaard, Elisabeth S; Fast, Søren

    2015-01-01

    BACKGROUND: Little is known about the whole body oxidative stress burden following radioactive iodine ((131)I) therapy of thyroid diseases. METHODS: We studied 17 patients with benign nodular goiter treated with (131)I therapy. The targeted thyroid dose was 50 Gy in 11 patients pretreated with 0...... MBq; 8-oxoGuo: p = 0.66, 8-oxodG: p = 0.71). CONCLUSION: Systemic oxidative stress, as detected by nucleic acids metabolites in the urine, is not increased after thyroid stimulation with 0.1 mg of rhTSH, or after (131)I therapy. Our method cannot quantify the oxidative stress induced locally...

  18. GOITER SURVEY AND URINARY IODINE CONCENTRATION IN SCHOOLCHILDREN AGED 8 TO 10 YEAR OF ISFAHAN PROVINCE IN 1996

    Directory of Open Access Journals (Sweden)

    F AZIZI

    2001-06-01

    Full Text Available Introduction: Iodine deficiency disorders (IDD is a worldwide health problem. Many parts of the Islamic Republic of Iran had been known as areas of endemic goiter. IDD was accepted as a priority health problem in the country, and a National lDD council was formed in 1989 under the supervision of the Ministry of Health and Medical Education. One of the main strategies of National council for IDD control was to provid at least 150 g of iodine per day to the entire population through making available iodized salt. This study was performed to evaluate the national IDD council program in 1996, in rural and urban areas of Isfahan province. Methods: One thousand and four hundred schoolchildren, aged 8 to 10 year, including 50% girls and 500k boys, were selected through random sampling. Grading of goiter was performed according to WHO"s classification. Serum T3. T 4 and TSH were measured by RIA and uninary iodine by digestion method. Results: The mean of serum T 4. T3 and TSH were 10.2±1.7 µgldl, 166±97 ngldl and 2.7±0.8 µlu/ml, respectively. There were no difference between males and females and schoolchildren of rural and urban areas. 0.6 percent had serum T4 more than 12.5 µg/dl and eight person had TSH more thans 5 µlu/ml. The median urinary iodine was 21 µg/dl in entire population, 76 percent had urinary iodine more than 10 µg/dl. Only 10 percent had urinary iodine less than 5 µg/dl. Total prevalence of goiter was 58 percent (60 percent in girls and 53 percent in boys. Disussion: Based on the available data, seven years after generalized use of iodized salt and 2 years after more than 50 percent of pupulation used iodized salt, uninary iodine of school children in Isfahan province showed sufficient iodine intake. However goiter is still hyperendemic in Isfahan province.

  19. Thyroid Ultrasonography Consistently Identifies Goiter in Adults Over the Age of 30 Years Despite a Diminished Response with Aging of the Thyroid Gland to the Effects of Goitrogenesis

    Directory of Open Access Journals (Sweden)

    Sheela R. Brahmbhatt

    2001-01-01

    Full Text Available Iodine deficiency is a national health problem in India and we have recently reported on the severity of IDD in adults and children in Gujarat province. The aim of this study was to determine the utility of thyroid ultrasonography to detect goiter in adults from an iodine-deficient population of Gujarat. We studied 472 adults selected by random household surveys. Data were collected on height, body weight, mid-upper arm circumference, thigh circumference, triceps skinfold thickness, thyroid size (palpation and ultrasonography, and diet. Casual urine samples for iodine (UI and blood spots for TSH estimation were obtained. Endemic goiter is a major public health problem in Gujarat State, India and is probably caused by multiple factors including iodine deficiency, malnutrition, and other dietary goitrogens. These results indicate that thyroid US consistently detects goiter in adults despite a diminished thyroidal response to variable goitrogenic stimuli.

  20. Utilizing the Dog Genome in the Search for Novel Candidate Genes Involved in Glioma Development-Genome Wide Association Mapping followed by Targeted Massive Parallel Sequencing Identifies a Strongly Associated Locus.

    Directory of Open Access Journals (Sweden)

    Katarina Truvé

    2016-05-01

    Full Text Available Gliomas are the most common form of malignant primary brain tumors in humans and second most common in dogs, occurring with similar frequencies in both species. Dogs are valuable spontaneous models of human complex diseases including cancers and may provide insight into disease susceptibility and oncogenesis. Several brachycephalic breeds such as Boxer, Bulldog and Boston Terrier have an elevated risk of developing glioma, but others, including Pug and Pekingese, are not at higher risk. To identify glioma-associated genetic susceptibility factors, an across-breed genome-wide association study (GWAS was performed on 39 dog glioma cases and 141 controls from 25 dog breeds, identifying a genome-wide significant locus on canine chromosome (CFA 26 (p = 2.8 x 10-8. Targeted re-sequencing of the 3.4 Mb candidate region was performed, followed by genotyping of the 56 SNVs that best fit the association pattern between the re-sequenced cases and controls. We identified three candidate genes that were highly associated with glioma susceptibility: CAMKK2, P2RX7 and DENR. CAMKK2 showed reduced expression in both canine and human brain tumors, and a non-synonymous variant in P2RX7, previously demonstrated to have a 50% decrease in receptor function, was also associated with disease. Thus, one or more of these genes appear to affect glioma susceptibility.

  1. Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3

    Energy Technology Data Exchange (ETDEWEB)

    Forbes, S.A.; Brennan, L.; Richardson, M. [Queen Charlotte`s Hospital, London (United Kingdom)] [and others

    1996-01-01

    The gene for X-linked cleft palate (CPX) has previously been mapped in an Icelandic kindred between the unordered proximal markers DXS1002/DXS349/DXS95 and the distal marker DXYS1X, which maps to the proximal end of the X-Y homology region in Xq21.3. Using six sequence-tagged sites (STSs) within the region, a total of 91 yeast artificial chromosome (YAC) clones were isolated and overlapped in a single contig that spans approximately 3.1 Mb between DXS1002 and DXYS1X. The order of microsatellite and STS markers in this was established as DXS1002-DXS1168-DXS349-DXS95-DXS364-DXS1196-DXS472-DXS1217-DXYS1X. A long-range restriction map of this region was created using eight nonchimeric, overlapping YAC clones. Analysis of newly positioned polymorphic markers in recombinant individuals from the Icelandic family has enabled us to identify DXS1196 and DXS1217 as the flanking markers for CPX. The maximum physical distance containing the CPX gene has been estimated to be 2.0 Mb, which is spanned by a minimum set of five nonchimeric YAC clones. In addition, YAC end clone and STS analyses have pinpointed the location of the proximal boundary of the X-Y homology region within the map. 40 refs., 2 figs., 2 tabs.

  2. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

    DEFF Research Database (Denmark)

    Ghoussaini, Maya; Edwards, Stacey L; Michailidou, Kyriaki

    2014-01-01

    GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project...

  3. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

    NARCIS (Netherlands)

    M. Ghoussaini (Maya); S.L. Edwards (Stacey); K. Michailidou (Kyriaki); S. Nord (Silje); R. Cowper-Sal-lari (Richard); K. Desai (Kinjal); S. Kar (Siddhartha); K.M. Hillman (Kristine); S. Kaufmann (Susanne); D.M. Glubb (Dylan); J. Beesley (Jonathan); J. Dennis (Joe); M.K. Bolla (Manjeet); Q. Wang (Qing); E. Dicks (Ed); Q. Guo (Qi); M.K. Schmidt (Marjanka); M. Shah (Mitul); R.N. Luben (Robert); J. Brown (Judith); K. Czene (Kamila); H. Darabi (Hatef); M. Eriksson (Mats); D. Klevebring (Daniel); S.E. Bojesen (Stig); B.G. Nordestgaard (Børge); S.F. Nielsen (Sune); H. Flyger (Henrik); D. Lambrechts (Diether); B. Thienpont (Bernard); P. Neven (Patrick); H. Wildiers (Hans); A. Broeks (Annegien); L.J. van 't Veer (Laura); E.J.T. Rutgers (Emiel); F.J. Couch (Fergus); J.E. Olson (Janet); B. Hallberg (Boubou); C. Vachon (Celine); J. Chang-Claude (Jenny); A. Rudolph (Anja); P. Seibold (Petra); D. Flesch-Janys (Dieter); J. Peto (Julian); I. dos Santos Silva (Isabel); L.J. Gibson (Lorna); H. Nevanlinna (Heli); T.A. Muranen (Taru); K. Aittomäki (Kristiina); C. Blomqvist (Carl); P. Hall (Per); J. Li (Jingmei); J. Liu (Jianjun); M.K. Humphreys (Manjeet); D. Kang (Daehee); J.-Y. Choi (J.); S.K. Park (Sue); D-Y. Noh (Dong-Young); K. Matsuo (Keitaro); H. Ito (Hidemi); H. Iwata (Hisato); Y. Yatabe (Yasushi); P. Guénel (Pascal); T. Truong (Thérèse); F. Menegaux (Florence); M. Sanchez (Marie); B. Burwinkel (Barbara); F. Marme (Federick); A. Schneeweiss (Andreas); C. Sohn (Christof); A.H. Wu (Anna H.); C.-C. Tseng (Chiu-Chen); D. Van Den Berg (David); D.O. Stram (Daniel O.); J. Benítez (Javier); M.P. Zamora (Pilar); J.I.A. Perez (Jose Ignacio Arias); P. Menéndez (Primitiva); X.-O. Shu (Xiao-Ou); W. Lu (Wei); Y. Gao; Q. Cai (Qiuyin); A. Cox (Angela); S.S. Cross (Simon); M.W.R. Reed (Malcolm); I.L. Andrulis (Irene); J.A. Knight (Julia); G. Glendon (Gord); S. Tchatchou (Sandrine); E.J. Sawyer (Elinor); I.P. Tomlinson (Ian); M. Kerin (Michael); N. Miller (Nicola); C.A. Haiman (Christopher); B.E. Henderson (Brian); F.R. Schumacher (Fredrick); L. Le Marchand (Loic); A. Lindblom (Annika); S. Margolin (Sara); S.-H. Teo (Soo-Hwang); C.H. Yip (Cheng Har); D.S.C. Lee (Daphne S.C.); T.Y. Wong (Tien Yin); M.J. Hooning (Maartje); J.W.M. Martens (John W. M.); J.M. Collée (Margriet); C.H.M. van Deurzen (Carolien); J.L. Hopper (John); M.C. Southey (Melissa); H. Tsimiklis (Helen); M.K. Kapuscinski (Miroslav K.); C-Y. Shen (Chen-Yang); P.-E. Wu (Pei-Ei); J-C. Yu (Jyh-Cherng); S.-T. Chen; G.G. Alnæs (Grethe); A.-L. Borresen-Dale (Anne-Lise); G.G. Giles (Graham); R.L. Milne (Roger); C.A. McLean (Catriona Ann); K.R. Muir (K.); A. Lophatananon (Artitaya); S. Stewart-Brown (Sarah); P. Siriwanarangsan (Pornthep); M. Hartman (Mikael); X. Miao; S.A.B.S. Buhari (Shaik Ahmad Bin Syed); Y.Y. Teo (Yik Ying); P.A. Fasching (Peter); L. Haeberle (Lothar); A.B. Ekici (Arif); M.W. Beckmann (Matthias); H. Brenner (Hermann); A.K. Dieffenbach (Aida Karina); V. Arndt (Volker); C. Stegmaier (Christa); A.J. Swerdlow (Anthony ); A. Ashworth (Alan); N. Orr (Nick); M. Schoemaker (Minouk); M. García-Closas (Montserrat); J.D. Figueroa (Jonine); S.J. Chanock (Stephen); J. Lissowska (Jolanta); J. Simard (Jacques); M.S. Goldberg (Mark); F. Labrèche (France); M. Dumont (Martine); R. Winqvist (Robert); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); H. Brauch (Hiltrud); T. Brüning (Thomas); Y.-D. Koto (Yon-Dschun); P. Radice (Paolo); P. Peterlongo (Paolo); B. Bonnani (Bernardo); S. Volorio (Sara); T. Dörk (Thilo); N.V. Bogdanova (Natalia); S. Helbig (Sonja); A. Mannermaa (Arto); V. Kataja (Vesa); V-M. Kosma (Veli-Matti); J.M. Hartikainen (J.); P. Devilee (Peter); R.A.E.M. Tollenaar (Rob); C.M. Seynaeve (Caroline); C.J. van Asperen (Christi); A. Jakubowska (Anna); J. Lubinski (Jan); K. Jaworska-Bieniek (Katarzyna); K. Durda (Katarzyna); S. Slager (Susan); A.E. Toland (Amanda); C.B. Ambrosone (Christine); D. Yannoukakos (Drakoulis); S. Sangrajrang (Suleeporn); V. Gaborieau (Valerie); P. Brennan (Paul); J.D. McKay (James); U. Hamann (Ute); D. Torres (Diana); W. Zheng (Wei); J. Long (Jirong); H. Anton-Culver (Hoda); S.L. Neuhausen (Susan); C. Luccarini (Craig); C. Baynes (Caroline); S. Ahmed (Shahana); M. Maranian (Melanie); S. Healey (Sue); A. González-Neira (Anna); G. Pita (Guillermo); M.R. Alonso (Rosario); N. Álvarez (Nuria); D. Herrero (Daniel); D.C. Tessier (Daniel C.); D. Vincent (Daniel); F. Bacot (Francois); I. de Santiago (Ines); J. Carroll (Jason); C. Caldas (Carlos); M. Brown (Melissa); M. Lupien (Mathieu); V. Kristensen (Vessela); P.D.P. Pharoah (Paul); G. Chenevix-Trench (Georgia); J.D. French (Juliet); D.F. Easton (Douglas); A.M. Dunning (Alison); P. Webb (Penny); A. De Fazio (Anna)

    2014-01-01

    textabstractGWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000

  4. Pobreza y Locus de Control

    OpenAIRE

    Joaquina Palomar Lever; Laura M. Valdés Trejo

    2004-01-01

    En este trabajo se busco conocer si existen diferencias en el locus de control según el nivel de pobreza en una población de 900 personas clasificadas en tres grupos: pobres extremos, pobres moderados y no pobres. Los sujetos estudiados compartieron la característica de ser personas económicamente independientes. Para este estudio se utilizaron como instrumentos de medición, un cuestionario sociodemográfico y una escala de locus de control. Los resultados muestran que los grupos d...

  5. Thyroid growth immunoglobulins in large multinodular endemic goiters: effect of iodized oil.

    Science.gov (United States)

    Medeiros-Neto, G A; Halpern, A; Cozzi, Z S; Lima, N; Kohn, L D

    1986-09-01

    -promoting activity and serum Tg concentrations (r = 0.58; P less than 0.001), but no significant correlation was found with other parameters (TSH, T4, and T3). We conclude that growth-promoting IgGs lacking ability to stimulate cAMP production may play a role in the large multinodular goiters due to chronic iodine deficiency.

  6. Evaluations of Factors Predicting the Need for an Extra-Cervical Approach for Intra-Thoracic Goiter

    Directory of Open Access Journals (Sweden)

    Ali Sadrizadeh

    2015-11-01

    Full Text Available Introduction: Intra-thoracic goiter refers to the extension of enlarged thyroid tissue into the thoracic inlet. This condition can produce symptoms of compression on adjacent organs and can sometimes be accompanied by malignant transformation. Therefore surgical treatment is almost always necessary. In order to remove the pathology with the fewest post-operative complications, selection of the appropriate surgical approach is essential. In this study we aimed to detect the criteria which help us select the best therapeutic approach.   Materials and Methods: In this retrospective study, 82 patients with intra-thoracic goiter were investigated. Their data were extracted from medical records and analyzed using SPSS software.   Results: Overall 82 patients, 18 (21% males and 64 (78% females with mean age of 56.38 years were studied. The most common clinical symptoms were mass (95% and dyspnea (73%. In most patients, the surgical approach was cervical (90.2%, while 9.8% of patients required an extra-cervical approach. Post-operation complications were observed in 17.1% of patients; the most common being transient recurrent laryngeal nerve paralysis (4.9%. Malignancy was reported in the histopathology of seven patients (8.5%. The most common malignant histopathology was papillary thyroid carcinoma (7.3%. Extension of the thyroid tissue below the uppermost level of the aortic arch was significantly correlated with the need for an extra-cervical approach to surgery (P

  7. Doppler evaluation of intrathyroid arterial resistances during preoperative treatment with Lugol's iodide solution in patients with diffuse toxic goiter.

    Science.gov (United States)

    Ansaldo, G L; Pretolesi, F; Varaldo, E; Meola, C; Minuto, M; Borgonovo, G; Derchi, L E; Torre, G C

    2000-12-01

    The aim of this study was to ascertain the utility of echo-Doppler in the analysis of the low resistance thyroid vascularization in diffuse toxic goiter (DTG), and the effectiveness of Lugol's solution (iodine-iodide solution) in patients undergoing thyroidectomy. Twenty-five patients with diffuse toxic goiter were evaluated and compared with 19 normal subjects. Patients were treated with increasing doses of Lugol's solution 2% for 7 days until a total dose of 75 mg of iodine was given. Echo-Doppler was performed on the last day of treatment, 12 hours before operation. Mean basal Doppler Resistance Index (RI) of intrathyroid arterial flow was significantly lower in patients with DTG compared with normal controls (0.4718 +/- 0.0625 versus 0.55 +/- 0.05, range: 0.472 to 0.643; p = 0.008). Moreover, the RI was significantly increased in patients with DTG after Lugol's solution (+16.46 +/- 10.22%, range: -2.59 to +39.97; pLugol's solution therapy induces normalization of those changes for safer thyroidectomy.

  8. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)

    Energy Technology Data Exchange (ETDEWEB)

    Fukai, Kazuyoshi; Oh, Jangsuk; Karim, M.A. [Univ. of Wisconsin Medical School, Madison, WI (United States)] [and others

    1996-09-01

    Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by hypopigmentation or oculocutaneous albinism and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function. Most patients die in childhood from pyogenic infections or an unusual lymphoma-like condition. A hallmark of the disorder is giant inclusion bodies seen in all granule-containing cells, including granulocytes, lymphocytes, melanocytes, mast cells, and neurons. Similar ultrastructural abnormalities occur in the beige mouse, which thus has been suggested to be homologous to human CHS. High-resolution genetic mapping has indicated that the bg gene region of mouse chromosome 13 is likely homologous to the distal portion of human chromosome 1q. Accordingly, we carried out homozygosity mapping using markers derived from distal human chromosome 1q in four inbred families or probands with CHS. Our results indicate that the human CHS gene maps to an 18.8-cM interval in chromosome segment 1q42-q44 and that human CHS therefore is very likely homologous to mouse bg. 43 refs., 2 figs.

  9. Locus of Control and Obesity

    Directory of Open Access Journals (Sweden)

    Florence eNeymotin

    2014-10-01

    Full Text Available In the developed world, the hazards associated with obesity have largely outstripped the risk of starvation. Obesity remains a difficult public health issue to address, due in large part to the many disciplines involved. A full understanding requires knowledge in the fields of genetics, endocrinology, psychology, sociology, economics, and public policy – among others. In this short review, which serves as an introduction to the Frontiers in Endocrinology research topic, we address one cross-disciplinary relationship: the interaction between the hunger/satiation neural circuitry, an individual’s perceived locus of control, and the risk for obesity. Mammals have evolved a complex system for modulating energy intake. Overlaid on this, in humans, there exists a wide variation in perceived locus of control – that is, the extent to which an individual believes to be in charge of the events that affect them. Whether one has primarily an internal or external locus of control itself affects, and is affected by, external and physiological factors and has been correlated with the risk for obesity. Thus, the path from hunger and satiation to an individual’s actual behavior may often be moderated by psychological factors, included among which is locus of control.

  10. Locus of control and obesity.

    Science.gov (United States)

    Neymotin, Florence; Nemzer, Louis R

    2014-01-01

    In the developed world, the hazards associated with obesity have largely outstripped the risk of starvation. Obesity remains a difficult public health issue to address, due in large part to the many disciplines involved. A full understanding requires knowledge in the fields of genetics, endocrinology, psychology, sociology, economics, and public policy - among others. In this short review, which serves as an introduction to the Frontiers in Endocrinology research topic, we address one cross-disciplinary relationship: the interaction between the hunger/satiation neural circuitry, an individual's perceived locus of control, and the risk for obesity. Mammals have evolved a complex system for modulating energy intake. Overlaid on this, in humans, there exists a wide variation in "perceived locus of control" - that is, the extent to which an individual believes to be in charge of the events that affect them. Whether one has primarily an internal or external locus of control itself affects, and is affected by, external and physiological factors and has been correlated with the risk for obesity. Thus, the path from hunger and satiation to an individual's actual behavior may often be moderated by psychological factors, included among which is locus of control.

  11. Locus of control in graduation students

    OpenAIRE

    Haider Zaidi, Imran; MS (Clinical Psychology) Scholar G.C University, Faisalabad, Pakistan; Mohsin, M. Naeem; Director Distance Learning Education G.C University, Faisalabad, Pakistan

    2013-01-01

    The current research focused on exploring the direction of Locus of control as well as gender difference on locus of control among graduation students in Pakistan. A 29 item Locus of Control questionnaire (Rotter, 1966) was used to measure locus of control. Sample of (N=200) individuals (n=100) men and (n=100) women selected from different academic institutes of Faisalabad division Punjab Pakistan. Independent sample t-test was used for statistical analysis. This study has consistent results ...

  12. [Epidemiologic investigation on the prevalence of goiter and urinary excretion of iodine in the school population of the province of Reggio Emilia].

    Science.gov (United States)

    Zini, M; Poluzzi, V; Bertani, A; Portioli, I; Cavalchi, B; Valcavi, R

    1998-01-01

    The prevalence of goiter was evaluated in a sample from the schoolchildren population of Reggio Emilia district. 1020 children underwent physical examination of thyroid gland and thyroid ultrasonography for determination of thyroid volume. Urinary iodine excretion (UIE) was measured in 837/1020 (82.1%). Iodine content was measured in water samples collected from 65 wells and 12 springs all around the district. The prevalence of goiter according to thyroid gland palpation was 26.2%. Thyroid volume was 4.74 +/- 1.87 ml, and the median UIE value 85 micrograms/l. According to the UIE classes as defined by WHO, 57.8% of all subjects showed a UIE less than 100 micrograms/l. In 57 out of 65 wells and in all the 12 springs examined, iodine was completely absent. In the remaining 8 wells, only iodine traces were found. Based on the results of physical examination of the thyroid gland, Reggio Emilia district should be regarded as an endemic goiter area. Nevertheless, thyroid volume measurement by ultrasound indicates that goiter prevalence may be markedly overestimated by palpation. The high prevalence of subjects featuring an increased thyroid volume, the low median UIE value and the poor iodine content in the local reservoirs of drinkable water suggest the opportunity for iodine prophylaxis in the Reggio Emilia district.

  13. Serum thyroxine and age - rather than thyroid volume and serum TSH - are determinants of the thyroid radioiodine uptake in patients with nodular goiter

    DEFF Research Database (Denmark)

    Bonnema, S J; Fast, S; Nielsen, V E

    2011-01-01

    Background: 131I therapy is widely used for treatment of non-toxic goiters. A limitation for this treatment is a low thyroid radioiodine uptake (RAIU), often encountered in these patients. Aim: To estimate the impact of various factors on the thyroid RAIU. Methods: We examined prospectively 170 p...

  14. The Value of Preoperative Volumetric Analysis by Computerised Tomography of Retrosternal Goiter to Predict the Need for an Extra-Cervical Approach.

    Science.gov (United States)

    Sormaz, İsmail Cem; Uymaz, Derya S; İşcan, Ahmet Y; Özgür, İlker; Salmaslıoğlu, Artur; Tunca, Fatih; Şenyürek, Yasemin G; Terzioğlu, Tarık

    2018-01-20

    A thyroidectomy can be performed via a cervical incision in most patients with retrosternal goiter. To investigate the correlation between the volume of the mediastinal portion of the thyroid gland and the need for an extra-cervical approach for retrosternal goiter. Diagnostic accuracy study. The measurement of craniocaudal length and the volume of the mediastinal component of the thyroid gland on computerised tomography images was performed in 47 patients with retrosternal goiter. Of these 47 patients, 8 (17%) required an extra-cervical approach and were classified as group 1, and 39 (83%) patients that required a cervical incision were classified as group 2. Receiver operating characteristic analysis was performed to determine the cut-off value for the craniocaudal length and the volume of the mediastinal thyroid mass, which significantly correlated with an extra-cervical approach for retrosternal goiter. Reoperative surgery was significantly more frequent in group 1 than in group 2 (50% vs 13%; p=0.03). The craniocaudal length of the mediastinal thyroid gland was significantly longer in group 1 than in group 2 (77±11 mm vs 31±21 mm, respectively; p=0.0001). The volume of the mediastinal component was significantly larger in group 1 compared to group 2 (264±106 cm3 vs 40±41 cm3, respectively; p=0.0001). The receiver operating characteristic curve of craniocaudal length and the volume of the mediastinal component identified ≥66 mm and ≥162 cm3 as the cut-off values with the maximum accuracy, respectively. The craniocaudal length of the thyroid mass below the thoracic inlet ≥66 mm or a volume of the mediastinal portion ≥162 cm3 were significantly associated with an extra-cervical approach (p=0.0001). For predicting an extra-cervical approach, the sensitivity, positive predictive value and negative predictive value of the cut-off value for craniocaudal length was 87.5%, 64% and 97%, respectively. For predicting an extra-cervical approach, the sensitivity

  15. The Value of Preoperative Volumetric Analysis by Computerised Tomography of Retrosternal Goiter to Predict the Need for an Extra-Cervical Approach

    Directory of Open Access Journals (Sweden)

    İsmail Cem Sormaz1

    2018-02-01

    Full Text Available Background: A thyroidectomy can be performed via a cervical incision in most patients with retrosternal goiter. Aims: To investigate the correlation between the volume of the mediastinal portion of the thyroid gland and the need for an extra-cervical approach for retrosternal goiter. Study Design: Diagnostic accuracy study. Methods: The measurement of craniocaudal length and the volume of the mediastinal component of the thyroid gland on computerised tomography images was performed in 47 patients with retrosternal goiter. Of these 47 patients, 8 (17% required an extra-cervical approach and were classified as group 1, and 39 (83% patients that required a cervical incision were classified as group 2. Receiver operating characteristic analysis was performed to determine the cut-off value for the craniocaudal length and the volume of the mediastinal thyroid mass, which significantly correlated with an extra-cervical approach for retrosternal goiter. Results: Reoperative surgery was significantly more frequent in group 1 than in group 2 (50% vs 13%; p=0.03. The craniocaudal length of the mediastinal thyroid gland was significantly longer in group 1 than in group 2 (77±11 mm vs 31±21 mm, respectively; p=0.0001. The volume of the mediastinal component was significantly larger in group 1 compared to group 2 (264±106 cm3 vs 40±41 cm3, respectively; p=0.0001. The receiver operating characteristic curve of craniocaudal length and the volume of the mediastinal component identified ≥66 mm and ≥162 cm3 as the cut-off values with the maximum accuracy, respectively. The craniocaudal length of the thyroid mass below the thoracic inlet ≥66 mm or a volume of the mediastinal portion ≥162 cm3 were significantly associated with an extra-cervical approach (p=0.0001. For predicting an extra-cervical approach, the sensitivity, positive predictive value and negative predictive value of the cut-off value for craniocaudal length was 87.5%, 64% and 97

  16. Recombinant human thyrotropin prior to radioiodine therapy improves the size reduction of non-toxic nodular goiter: a prospective randomized double-blinded trial

    International Nuclear Information System (INIS)

    E Nielsen, Viveque; Bonnema, Steen; Hegedues, Laszlo; Grupe, Peter; Boel-Joergensen, Henrik

    2005-01-01

    Full text: Background: rh TSH increases the thyroid 131 I uptake (RAIU) and may have a role in the context of 131 I therapy of goiter. No placebo-controlled trial has yet been performed. Methods: In a double-blinded trial, 57 patients with nodular nontoxic goiter (51 F, 6 M) were randomized to receive either 0.3 mg rh TSH (n=28) or placebo (n=29) 24 h before 131 I. The thyroid dose was calculated based on thyroid size (measured by ultrasound) and RAUI at 24 h and 96 h. Thyroid size and function and patient satisfaction were monitored for 12 months. Results: At baseline the median goiter volume was 51 ml (range: 20-99 ml) in the placebo group and 59 ml (25-92 ml) in the rh TSH group (p=0.75). Three months after 131 I the goiter size was reduced to 38 ml (15-78 ml) and 43 ml (20-75 ml) in the two groups, respectively (p=0.001 within groups, p=0.96 between groups). At 12 months, the corresponding figures were 27 ml (15-82 ml) and 20 ml (6-59 ml); p=0.001 within groups compared with baseline, p=0.12 between groups. The relative goiter reduction at this time was 46 ± 22% in the placebo group, and 61 ± 15% in the rh TSH group (p=0.004). In addition to the influence of rh TSH, the magnitude of the goiter reduction correlated inversely with the initial goiter volume (p=0.019), whereas no significant correlation was found with the RAIU during therapy or with the absorbed thyroid dose. Discomfort during 131 I was reported by 10 patients in the placebo group and by 15 patients in the rh TSH group (p=0.12). Permanent hypothyroidism developed in 12% in the placebo group and in 52% in the rh TSH group (p=0.005). Patient satisfaction was generally very high without any major within group difference. Conclusion: In the first placebo-controlled double-blinded trial, we found that rh TSH prior to 131 I -therapy significantly improves thyroid size reduction by 33%, with a four-fold higher rate of hypothyroidism. These effects are, at least partially, mediated through other

  17. Permanent Hypothyroidism after Radioactive Iodine(131I) Treatment in Diffuse Toxic Goiter

    International Nuclear Information System (INIS)

    Park, Soon Yang; Lee, Jung Sang; Lee, Hong Kyu; Koh, Chang Soon; Lee, Mun Ho

    1977-01-01

    Radioactive iodine (RAI), principally 131 I, effectively controls hyperthyroidism in the majority of patients. The subsequent development of hypothyroidism, however, has been of increasing concern since it was first pointed out by Chapman and Maloof in 1955. And the steady increase of late hypothyroidism during the passage of time was known with its relation with dosage of RAI. The authors have investigated the development of hypothyroidism in 935 patients with diffuse toxic goiter (DTG) who were treated with RAI ( 131 I) at the Seoul National University Hospital from 1960 to 1977 to reveal its relation with the number of RAI treatments, dosage of RAI, age of patients and exophthalmos with the following results. 1) The incidence of hypothyroidism by year after RAI therapy among 631 patients with DTG who were treated with single RAI regimen was 7.4% (1 year), 11.8% (2 year), 16.2% (3 year), 22.1% (4 year) and 25.5% (5 year), and that among 163 patients given multiple RAI treatments was 8.6% (1 year), 10.4% (2 year), 13.3% (3 year), 29.1% (4 year), and 54.1% (5 year) respectively showing much higher yearly increments from 4 years after RAI treatment in comparison with the former. 2) Among 550 patients in the lower dose group treated with single RAI regimen less than 5.0 mCi (Mean±S.D.: 4.3±0.6 mCi), the incidence of hypothyroidism by year after RAI treatment was 6.8% (1 year), 11.4% (2 year), 15.4% (3 year), while among 81 patients in the higher dose group given single RAI treatment not less than 5.5 mCi (Mean±S.D.: 6.3±0.5 mCi) it was 12.0% (1 year), 15.4% (2 year) and 20.4% (3 year) respectively. However, the duration till euthyroid state after RAI therapy in the two groups was 5.1±3.6 months and 4.8±2.8 months respectively showing no statistically significant difference (p>0.1). 4) The incidence of hypothyroidism after RAI treatment in patients younger than 30 years of age was 4.3% (1 year) and 7.7% (2 year); in patients from 30 years to 49 years of age, 5

  18. Hubungan Paparan Pestisida Dengan Kejadian Goiter Pada Petani Hortikultura Di Kecamatan Ngablak Kabupaten Magelang

    Directory of Open Access Journals (Sweden)

    Hendra Budi Sungkawa

    2015-12-01

    Full Text Available ABSTRACT Background: Pesticides are toxic material  or a substance or mixture of substances used to kill a pest or  intended for preventing, destroying, repelling or mitigating any pest.[2] A pesticide may be a chemical substance, biological agent (such as a virus or bacterium, antimicrobial, disinfectant or device used against any pest. Pests in agriculture  include insects, plant pathogens, weeds, molluscs, birds, mammals, fish, nematodes (roundworms.  Although there are benefits to the use of pesticides, there are also drawbacks, such as potential toxicity to humans and environment. Usage pesticide which do not well  managed  may  generate negative impact. Chronic poisoning of pesticides may produce adverse effect on health, including, cancer, genetic mutation, thyroid diasease, reproductive disorders and neurodegenerative disases. Preliminary researh showed that farmer in district of Ngablak   98 %  have experience of pesticide exposure. Result of study indicate that 16,5 % farmer of horticulture that have pesticide exposure  district of Ngablak  have a disorder of  thyroid and manifest as goiter. This research objective was to find out the relation between pesticides exposure and the incidence of goitre on farmer exposed to pesticides. Method: this research used a case control design with  68 case and 68 control. The variable of the research include age, education, work duration, time of activity per day, pesticide type, pesticide dose, spraying frequency, time of  spraying, farmer position to wind direction while spraying and using of personal protective equipment. Result: Research result indicated  that variables that related to the incidence of endemic goitre were age (OR = 3,83; CI 95%= 1,88 – 7,81, work duration (OR = 12, 79; CI 95% = 2,85 – 57,53, time of activity per day (OR = 2,47; CI 95% = 1,16 – 5,23, pesticide type (OR = 5,86; CI 95% = 2,73 – 12,56, pesticide dose (OR = 2,96; CI 95% = 1,37 – 6

  19. Environmental factors other than iodine deficiency in the pathogenesis of endemic goiter in the basin of river Ganga and Bay of Bengal, India

    Directory of Open Access Journals (Sweden)

    Amar K Chandra

    2016-01-01

    Full Text Available Background: In iodine-replete basin of the river Ganga and the Bay of Bengal, we studied iodine nutritional status of school children by goiter prevalence and their urinary iodine (UI, iodine content in edible salt, and the bioavailability of iodine through water and its contribution to iodine nutrition. We also studied consumption pattern of common goitrogenic plants by measuring urinary thiocyanate (USCN, hardness of water (calcium and magnesium salt content and assessed the effect of concomitant exposure of those environmental factors in goitrogenesis. Methods: 4603 children aged 6-12 years were examined for goiter by palpation, 520 urine samples were analyzed for UI and USCN; iodine content was estimated in 455 household salt and 130 water samples tested both for iodine and hardness. Results: The total goiter rate was 35.9%, median UI was 231 ΅g/l, mean USCN was 0.857 ± 0.48 mg/dl, iodine content in water was 44.7 ± 4.1 ΅g/l, 66.4% of salt samples contained iodine (15 ppm, and water was found to be hard. UI was correlated with both the drinking water iodine content and USCN and the degree of hardness in drinking water was associated with goiter prevalence. Conclusions: The studied population has endemic goitre despite iodine sufficiency. The concomitant exposure of a number of environmental factors, i.e., thiocyanate of cyanogenic plant food, hardness of drinking water, and excess iodine from environmental sources other than iodide salt are likely responsible for the causation and persistence of endemic goiter in the region.

  20. Prevalence of goiter and urinary iodine status in six-twelve-year-old rural primary school children of Bharuch district, Gujarat, India

    Directory of Open Access Journals (Sweden)

    Haresh Rameshkumar Chandwani

    2012-01-01

    Full Text Available Background: Iodine deficiency disorder (IDD creates major public health problems in India, including Gujarat. The Bharuch district is a known iodine deficiency endemic area. This study was conducted to estimate the prevalence of goiter in primary school children; to determine the median urinary iodine concentration; to assess the level of iodine in salt samples at the household and retail shop levels; and to study the profile of salt sold at retail shops. Methods: This study was carried out by using the 30-cluster survey method in the primary schools of the rural areas in Bharuch district. A total of 70 students, including five boys and five girls from the first to seventh classes, who were present in class on the day of the visit were selected randomly for goiter examination from each village. Urine samples were collected from one boy and one girl from each class in each cluster. From each community, a maximum of two boys and two girls from each standard in the same age group were examined and also salt samples were tested from their households. From each village, one retail shop was visited and the salt purchased from those shops was immediately tested for iodine with spot kits. Results: We found a goiter prevalence of 23.2% (grade 1 - 17.4% and grade 2 - 5.8%. As the age increased, the goiter prevalence decreased except in nine-year-olds. The median urinary iodine excretion level was 110 μg/L. An Iodine level > 15 ppm was found in 93% of the salt samples tested at the household level. Conclusion: The present study showed moderate goiter prevalence in primary school children in the Bharuch district of Gujarat and an inadequate iodine content of salt at some household levels.

  1. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.

    Science.gov (United States)

    Lezirovitz, Karina; Maestrelli, Sylvia Regina Pedrosa; Cotrim, Nelson Henderson; Otto, Paulo A; Pearson, Peter L; Mingroni-Netto, Regina Celia

    2008-07-01

    Split-hand/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome genes: 1q42.2-q43, 6q14.1 and 2q14.2. We characterized the phenotype of nine affected individuals from a large family with the aim of mapping the causative gene. Among the nine affected patients, four had only SHFM of the hands and no tibial defects, three had both defects and two had only unilateral tibial hemimelia. In keeping with previous publications of this and other families, there was clear evidence of both variable expression and incomplete penetrance, the latter bearing hallmarks of anticipation. Segregation analysis and multipoint Lod scores calculations (maximum Lod score of 5.03 using the LINKMAP software) using all potentially informative family members, both affected and unaffected, identified the chromosomal region 17p13.1-17p13.3 as the best and only candidate for harboring a novel mutated gene responsible for the syndrome in this family. The candidate gene CRK located within this region was sequenced but no pathogenic mutation was detected.

  2. Fine mapping of a quantitative trait locus for spikelet number per panicle in a new plant type rice and evaluation of a near-isogenic line for grain productivity.

    Science.gov (United States)

    Sasaki, Kazuhiro; Fujita, Daisuke; Koide, Yohei; Lumanglas, Patrick D; Gannaban, Ritchel B; Tagle, Analiza G; Obara, Mitsuhiro; Fukuta, Yoshimichi; Kobayashi, Nobuya; Ishimaru, Tsutomu

    2017-05-17

    Total spikelet number per panicle (TSN) is one of the determinants of grain productivity in rice (Oryza sativa L.). In this study, we attempted to detect quantitative trait loci (QTLs) for TSN in the introgression lines with high TSN, derived from the cross of Indica Group variety IR 64 with new plant type lines. Two QTLs were detected on the long arm of chromosome 12: qTSN12.1 in the BC4F2 population of YTH63/IR 64 and qTSN12.2 in the BC4F3 population of YTH83/IR 64. TSN of the main tiller was significantly higher in near-isogenic lines (NILs) for qTSN12.1 (IR 64-NIL1; 188.6) and for qTSN12.2 (IR 64-NIL12; 199.4) than in IR 64 (141.2), owing to a significant increase in both primary and secondary branch numbers. These results suggest the critical function of these QTLs in the promotion of rachis branching at the panicle formation stage. Fine mapping of qTSN12.2 revealed six candidate genes in a 92-kb region of the Nipponbare reference genome sequence between flanking markers RM28746 and RM28753. Detailed phenotyping of agronomic traits of IR 64-NIL12 carrying qTSN12.2 showed drastic changes in plant architecture: this line had lower panicle number, longer culm, and longer and wider leaves compared with IR 64. Percentage of fertility and 1000-grain weight tended to be greater, and grain yield per square meter was also greater in IR 64-NIL12 than in IR 64. The newly identified QTLs will be useful for genetic improvement of the yield potential of Indica Group varieties. The markers tightly linked to qTSN12.2 are available for marker-assisted breeding. © The Author 2017. Published by Oxford University Press on behalf of the Society for Experimental Biology.

  3. Locus of Control and Anxiety as Mediating Variables of Locus of Conflict in Disadvantaged Youth.

    Science.gov (United States)

    Ollendick, Duane G.

    1979-01-01

    As hypothesized, external locus of control scores correlated significantly with locus of conflict scores, although this varied for both sex and for the type of behavior problems exhibited. The hypothesized relationship between anxiety and locus of conflict was not supported. (RL)

  4. Efficacy in the use of recombinant TSH (thyrogen ) in the ablative treatment of compressive goiters with low uptake of I-131

    International Nuclear Information System (INIS)

    Barroso, Alvaro L; Padrao, Eduardo L; Rezende, Leonardo; Assis, Rodrigo S; Leite, Paulo H. D; Faria, Mauro L

    2001-01-01

    This study tries to demonstrate the usefulness of recombinant human TSH (Thyrogen in radioiodine therapy for compressive goiters with low radioiodine uptake. Three female patients were studied, their average age was 70, presenting with large goiters. Two patients had upper airway obstruction symptoms and all of them had aVersion or high risk for surgical treatment. The 24 h radioiodine uptake was low in all cases. Two to three doses of 0,9 mg of Thyrogen were given to each patient aiming to maximize the effectiveness of the radioiodine therapeutic doses (estimated in 30, 50 and 100 mCi). The 24 h radioiodine uptake of 6, 13 and 21% reached 59, 50 and 75% respectively with Thyrogen After radioiodine therapy mediastinal masses reduced 1,5 cm in average in the greater transverse diameter, in an average tomographic evolution time of 6,6 months. The patients previously suffering from obstructive airway symptons improved until they were completely cured with the treatment. Thyrogen administration was a fundamental step for the success of the ablative therapy to the goiters with low radioiodine uptake. Without it, it would not be possible to reach satisfactory levels of radioactive uptake without exogenous stimulus (Au)

  5. Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus

    NARCIS (Netherlands)

    Hargreaves, Chantal E.; Iriyama, Chisako; Rose-Zerilli, Matthew J. J.; Nagelkerke, Sietse Q.; Hussain, Khiyam; Ganderton, Rosalind; Lee, Charlotte; Machado, Lee R.; Hollox, Edward J.; Parker, Helen; Latham, Kate V.; Kuijpers, Taco W.; Potter, Kathleen N.; Coupland, Sarah E.; Davies, Andrew; Stackpole, Michael; Oates, Melanie; Pettitt, Andrew R.; Glennie, Martin J.; Cragg, Mark S.; Strefford, Jonathan C.

    2015-01-01

    Cancer immunotherapy has been revolutionised by the use monoclonal antibodies (mAb) that function through their interaction with Fc gamma receptors (FcγRs). The low-affinity FcγR genes are highly homologous, map to a complex locus at 1p23 and harbour single nucleotide polymorphisms (SNPs) and copy

  6. Deletion of tumor progression locus 2 attenuates alcohol induced hepatic inflammation

    Science.gov (United States)

    BACKGROUND: The pathogenesis of alcoholic liver disease (ALD) involves the interaction of several inflammatory signaling pathways. Tumor progression locus 2 (TPL2), also known as Cancer Osaka Thyroid (COT) and MAP3K8, is a serine threonine kinase that functions as a critical regulator of inflammator...

  7. Radioiodine therapy in toxic multinodular goiter- the influence of carbimazole therapy and dietary iodine on relapse rates

    International Nuclear Information System (INIS)

    Mitra, S.; Muthu, G.S.

    2007-01-01

    Full text: The relapse rate of radioiodine therapy in toxic multinodular goiter (TMNG) is reported to be around 34% at one year. The effect of antithyroid drugs on the response rate is controversial with studies reporting a higher relapse rate in patients pretreated with antithyroid drugs. Other studies report no influence of pretreatment with antithyroid drugs. The thyroid clinic at Tata Main Hospital is a referral center for thyroid disorders in Jamshedpur. 63 patients of TMNG (Group A) were treated with Radioiodine between 1995-2003. The demographic profile of these patients was as follows: M/F- 38%: 62%, 76% of patients were above 40 years, 85% had been on anti-thyroid drugs for more than 18 months. Fixed dose radioiodine in an oral dose varying from 5-10 mCi was given in all patients of Group A. 32.4 % of patients continued to be toxic or relapsed after a period of euthyroid status within 1 year of Radioiodine therapy. A change in protocol for radioiodine therapy was introduced in 2003. This included withdrawal of antithyroid drugs for one month before radioiodine therapy and the use of noniodized salt and abstinence from seafood in diet during this period. 33 TMN Goiter patients (Group B) followed this protocol before receiving Radioiodine. The dose of Radioiodine remained 5-10 mCi. The age and sex profile of Group A and B were comparable. However, Group B patients had been on antithyroid drugs for a shorter period (p< 0.001). The dose of Radioiodine in 94% of Group B patients was between 7-10mCi, whereas this was 63.4% in Group A. The rest of the patients had received a dose between 5-7 mCi. The relapse rate in Group B was 9.1% compared to 32.4% in Group A. Improvement in response rates with increase in Radioiodine dose remains controversial.P PThe better response rate in Group B patients may be attributed to the withdrawal of antithyroid drugs for one month before therapy and the reduction in dietary intake of Iodine for a month before therapy. However, a

  8. Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

    DEFF Research Database (Denmark)

    Dad, S.; Østergaard, Elsebet; Thykjær, T.

    2010-01-01

    Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous...... Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical...... to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2-23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non-syndromic...

  9. Physical Localization of a Locus from Agropyron cristatum Conferring Resistance to Stripe Rust in Common Wheat.

    Science.gov (United States)

    Zhang, Zhi; Song, Liqiang; Han, Haiming; Zhou, Shenghui; Zhang, Jinpeng; Yang, Xinming; Li, Xiuquan; Liu, Weihua; Li, Lihui

    2017-11-13

    Stripe rust, caused by Puccinia striiformis f. sp. tritici ( Pst ), is one of the most destructive diseases of wheat ( Triticum aestivum L.) worldwide. Agropyron cristatum (L.) Gaertn. (2 n = 28, PPPP), one of the wild relatives of wheat, exhibits resistance to stripe rust. In this study, wheat- A . cristatum 6P disomic addition line 4844-12 also exhibited resistance to stripe rust. To identify the stripe rust resistance locus from A . cristatum 6P, ten translocation lines, five deletion lines and the BC₂F₂ and BC₃F₂ populations of two wheat- A . cristatum 6P whole-arm translocation lines were tested with a mixture of two races of Pst in two sites during 2015-2016 and 2016-2017, being genotyped with genomic in situ hybridization (GISH) and molecular markers. The result indicated that the locus conferring stripe rust resistance was located on the terminal 20% of 6P short arm's length. Twenty-nine 6P-specific sequence-tagged-site (STS) markers mapped on the resistance locus have been acquired, which will be helpful for the fine mapping of the stripe rust resistance locus. The stripe rust-resistant translocation lines were found to carry some favorable agronomic traits, which could facilitate their use in wheat improvement. Collectively, the stripe rust resistance locus from A . cristatum 6P could be a novel resistance source and the screened stripe rust-resistant materials will be valuable for wheat disease breeding.

  10. Fine mapping of the 9q31 Hirschsprung's disease locus

    NARCIS (Netherlands)

    Tang, C. S.; Sribudiani, Y.; Miao, X. P.; de Vries, A. R.; Burzynski, G.; So, M. T.; Leon, Y. Y.; Yip, B. H.; Osinga, J.; Hui, K. J. W. S.; Verheij, J. B. G. M.; Cherny, S. S.; Tam, P. K. H.; Sham, P. C.; Hofstra, R. M. W.; Garcia-Barcelo, M. M.

    Hirschsprung's disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene. Reduced penetrance of RET mutations and phenotypic variability suggest the involvement of additional modifying genes in the

  11. EL LOCUS DE DISTRIBUCION COMO COROLARIO DEL LOCUS DE CONTROL

    Directory of Open Access Journals (Sweden)

    Luisa Mayoral

    2009-01-01

    Full Text Available Este es un artículo científico acerca del Locus de Distribución, surgido de un estudio realizado con una población de docentes y alumnos universitarios. Respecto de los primeros, se ha indagado acerca de las atribuciones que se realizaban en torno a las recompensas y sanciones, que ellos distribuían a sus alumnos. Respecto de los segundos, se ha buscado determinar la valoración que estos realizaban de sus profesores, en términos de aquellas atribuciones. Para ello, se utilizaron dos paradigmas clásicamente empleados para verificar la existencia de una norma: el paradigma de la autopresentación (docentes, y el paradigma de los juicios (alumnos. La cuestión planteada fue determinar si en el caso de los comportamientos distributivos de refuerzos, las causas se atribuían a variables externas -en particular a los receptores de esos refuerzos- y si esas formas de atribución eran conocidas y valoradas o no, por los alumnos. De los resultados, surgió la confirmación de nuestra hipótesis de explicaciones externas en materia de comportamientos distributivos de sanciones en el ámbito de la docencia y la valoración positiva de estas atribuciones por los alumnos.

  12. 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.

  13. Immotile cilia syndrome: A recombinant family at HLA-linked gene locus

    Energy Technology Data Exchange (ETDEWEB)

    Gasparini, P.; Grifa, A.; Oggiano, N.; Fabbrizzi, E.; Giorgi, P.L. [Univsita di Ancona (Israel)

    1994-02-15

    The immotile-cilia syndrome (ICS) is an autosomal recessive trait of congenital dismobility or even complete immobility of cilia in the ciliated epithelia (MIM 244400). Recurrent upper respiratory infections in early childhood are the most common clinical findings. Recently a disease locus was mapped by sib pair analysis in two unrelated families on 6p tightly linked to HLA class II loci, such as DR and DQ. In order to confirm this assignment and to test the presence of possible heterogeneity, the authors analyzed several ICS families utilizing DNA makers of HLA class II region. Here they report the identification of a recombinant family at this locus. 3 refs., 1 fig.

  14. Culture, gender and locus of control

    DEFF Research Database (Denmark)

    Ottsen, Christina Lundsgaard; Johannessen, Kim Berg; Berntsen, Dorthe

    The current study is a cross-cultural comparison between the Middle East and Scandinavia. Two societies that offer a unique opportunity to examine gender differences in personal goals and how goals are affected by locus of control.......The current study is a cross-cultural comparison between the Middle East and Scandinavia. Two societies that offer a unique opportunity to examine gender differences in personal goals and how goals are affected by locus of control....

  15. Relationships between locus of control and anxiety.

    Science.gov (United States)

    Archer, R P

    1979-12-01

    Reviews findings on the relationships between locus of control and anxiety and examines these relationships for three types of anxiety measures; general trait anxiety, situation specific trait anxiety, and state anxiety. In general, findings support the existence of meaningful relationships between greater externality and higher levels of both general trait anxiety and test anxiety. It was suggested that the relation between locus of control and state anxiety is a function of the situational context in which state anxiety is measured.

  16. Vitamin D status in Egyptian euthyroid multinodular non-toxic goiter patients and its correlation with TSH levels.

    Science.gov (United States)

    Aboelnaga, Mohamed M; Elshafei, Maha M; Elsayed, Eman

    2016-10-01

    Although the prevalence of MNG is widespread throughout the world, its pathogenesis is poorly understood, and the complex interactions of both genetic predisposition and the individuals' environment are likely. However, to the best of our knowledge, it remains unknown whether there is a relationship between vitamin D status and prevalence or pathogenesis of euthyroid MNG. Therefore, the goal of the present study was determination of vitamin D status in euthyroid MNG as well as exploration of the correlation between vitamin D status & TSH levels. A total of 77 patients diagnosed with euthyroid MNG and 50 subjects without goiter were matched according to age, weight and BMI as control group in this case control study. We found that patients with euthyroid MNG had statistically significant lower mean of [25(OH)D] (24.21±8.68ng/mL) in comparison with its mean in control subjects (28.37±10.91ng/mL, P value=0.019). The 28 sufficient vitamin D MNG patients had statistically significant lower level of TSH than 49 insufficient vitamin D MNG patients. Vitamin D and TSH levels correlate with vitamin D levels in MNG patients in Pearson correlation. Also 25 OH vitamin D was a significant independent predictor for TSH levels among euthyroid MNG patients in regression analysis. Patients with euthyroid MNG have lower levels of vitamin D and TSH levels correlate with vitamin D levels in euthyroid MNG patients. In addition, 25 OH vitamin D was a significant independent predictor for TSH levels among euthyroid MNG patients. We recommend hypovitaminosis D evaluation and correction in patients with MNG. Copyright © 2016 SEEN. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Differential Aspects of Locus of Control and Attitudes Towards Death.

    Science.gov (United States)

    Hyams, Nanci Barbara; And Others

    1982-01-01

    Investigated the relationship between locus of control and death anxiety in 99 college students. Results indicated a significant relationship between external locus of control and concern about death, and a specific differential patterning between locus of control and death anxiety. Sex differences existed on four locus of control dimensions. (WAS)

  18. Refined mapping of loss of heterozygosity in Chinese sporadic ...

    African Journals Online (AJOL)

    GREGORY

    2010-08-30

    loss of heterozygosity), the loss of one paternal or maternal allele at specific locus on tumor suppressor genes ... while genome-wide scan and refined mapping were .... (D) Non-informative cases: microsatellites instable (MSI).

  19. The use of the rhTSH (thyrogen-genzyme) as adjuvant to the radioiodine (131I) in multi nodular goiter treatment : comparison among 2 therapeutic options

    International Nuclear Information System (INIS)

    Albino, Claudio C.; Gaviolli, Aroldo; Mesa, Cleo; Graf, Hans

    2005-01-01

    Full text: Introduction: In our experience and of the recent literature, the association of the recombinant TSH (rh TSH) in low doses, previously to 131 I has been value in MNG treatment. However we don't have an ideal approach on this disease. Objective: To compare two different options with rh TSH previously to fixed dose of 131 I (30 mCi) in BMN treatment. Patients and Methods: We have 18 patients in group 1 and 14 in group 2. The patients had similar age and volume goiter in both groups. They were submitted to the same diagnosis protocol: TSH, FT 4 , T 3 , Tg on days 0, 1, 2, 3, 5, 10, 30, 90, 180 and TPO ab, Tg ab and TRAB on days 0, 30, 90 and 180. The goiter was measured by helicoidal CT on days 0 and 180.The RAIU on 24 h after rh TSH was measured in both groups. The G 1 used rh TSH in two consecutive doses of 0,1 mg and the G 2 used an unique dose of 0,1 mg. Both groups were submitted to 30 mCi of 131 I 24 h after the last injection of rh TSH. Results: The increment of TSH level was bigger in group 1 than group 2 (33 times in G1 and 13 times in G2). Similar results were found on FT 4 ,T 3 and Tg levels. The hormones returned to base levels after 30 d on G1 and 90 d on G2. The RAIU 24 h peak was bigger on G1 than G2 (12% to 52% on G1 and 10,2% to 35% on G2). 39% patients on G1 and 21% on G2 had clinic thyrotoxicosis and actinic thyroiditis were prevalent in 33 % on G1 and 14% on G2. After six months 65% of patients on G1 were in hypothyroidism and 28% on G2. The reduction on goiter volume was similar in both groups: 40% on G1 and 45% on G2. Conclusion: The option with 1 injection of 0,1 mg rh TSH plus 131 I had similar efficiency on reduction of volume goiter however was safer than 2 injections of 0,1 rh TSH plus 131 I in MNG treatment. (author)

  20. Non-surgical approach to the benign nodular goiter: new opportunities by recombinant human TSH-stimulated (131)I-therapy

    DEFF Research Database (Denmark)

    Bonnema, Steen Joop; Fast, Søren; Hegedüs, Laszlo

    2011-01-01

    and this treatment is of particular benefit, as compared with conventional (131)I-therapy, in patients with a low baseline thyroid (131)I uptake and a large goiter. If the rhTSH dose does not exceed 0.1 mg the risk of temporary hyperthyroidism and acute thyroid swelling is low. Since patient satisfaction seemingly......-controlled studies should explore this strategy, with focus on cost-benefit and quality of life. A major hindrance of widespread and routine use of rhTSH-stimulated (131)I-therapy is its present status as an off-label treatment....

  1. LocusTrack: Integrated visualization of GWAS results and genomic annotation.

    Science.gov (United States)

    Cuellar-Partida, Gabriel; Renteria, Miguel E; MacGregor, Stuart

    2015-01-01

    Genome-wide association studies (GWAS) are an important tool for the mapping of complex traits and diseases. Visual inspection of genomic annotations may be used to generate insights into the biological mechanisms underlying GWAS-identified loci. We developed LocusTrack, a web-based application that annotates and creates plots of regional GWAS results and incorporates user-specified tracks that display annotations such as linkage disequilibrium (LD), phylogenetic conservation, chromatin state, and other genomic and regulatory elements. Currently, LocusTrack can integrate annotation tracks from the UCSC genome-browser as well as from any tracks provided by the user. LocusTrack is an easy-to-use application and can be accessed at the following URL: http://gump.qimr.edu.au/general/gabrieC/LocusTrack/. Users can upload and manage GWAS results and select from and/or provide annotation tracks using simple and intuitive menus. LocusTrack scripts and associated data can be downloaded from the website and run locally.

  2. Study of the Prevalence of Endemic Goiter and Its Relation with Urinary Iodine and Thyroid Hormonal Levels in 6-18 Year Old School Children in Rafsanjan in 2000

    Directory of Open Access Journals (Sweden)

    M Mahmoodi

    2004-07-01

    Full Text Available Introduction: Endemic goiter due to iodine deficiency is one of the health problems in the developing countries. Material & Methods: In this cross-sectional study, 109 schoolboys and 92 schoolgirls, aged between 6 and 18 years in Rafsanjan city were selected randomly by proportionate-multistage cluster sampling method. All the students underwent clinical examination for presence of goiter according to criteria recommended by WHO, and urinary iodine excretion, T4, FTI and TSH were measured. Results: The point Prevalence rate of goiter in boys and girls were 71.6% and 55.6%, respectively. Prevalence rates of Grade I and II were 51.3% and 12.9%, respectively. Urinary iodine excretion was normal in 68.1% (>10 μg/dl mild in 30.6% (5-9.9 μg/dl and moderate in 1.3% (2.1-4.9 μg/dl. Of 68.1% of schoolchildren with normal urinary iodine, 56.9% showed different grades of goiter. There was no relation between goiter stages and urinary iodine deficiency (P>0.05. T4, FTI and TSH in 96% of schoolchildren were normal. In 3%, TSH levels were more than the normal range (>3.5 μU/ml and in 1%, T4 concentration was less than the normal range (0.05. Conclusion: With respect to the fact that urinary iodine levels were normal in 68.1% of the students and thyroid parameters were normal in 94% of the subjects, the very high prevalence rate of goiter in the city of Rafsanjan seems to be due to certain unknown etiological factors which needs further studies

  3. Prevalence of goiter and thyroid nodules before and after implementation of the universal salt iodization program in mainland China from 1985 to 2014: a systematic review and meta-analysis.

    Directory of Open Access Journals (Sweden)

    Wei Zhao

    Full Text Available OBJECTIVES: We comprehensively estimated the prevalence of goiter and thyroid nodules (TNs before and after the implementation of the Universal Salt Iodization (USI program in mainland China and provided information for creating effective health policies. METHODS: PubMed, Google Scholar, CNKI, Chinese Wanfang and Chongqing VIP databases were searched for relevant studies from Jan 1985 to Feb 2014. Data from eligible citations were extracted by two independent reviewers. All analyses were performed with Stata 11.0 and SPSS 17.0. RESULTS: Eligible articles (N = 31; 4 in English and 27 in Chinese included 52 studies (15 about goiter rates made before 1996 and 14 afterwards, and 23 about TNs. Our meta-analysis suggests a pooled prevalence for goiter before and after 1996 and for TNs of 22.8% (95% CI: 15.3%, 30.3%, 12.6% (95% CI: 9.4%, 15.8% and 22.7% (95% CI: 18.3%, 27.0%, respectively. Egger's test of three independent categories revealed no evidence of publication bias (p = 0.101, 0.148 and 0.113, respectively. CONCLUSIONS: The prevalence of goiter was reduced by almost half after 1996 in mainland China, so the USI program was considered beneficial. However, subgroup analysis suggests that both insufficient and excess iodine may be associated with goiter. The prevalence of goiter and TNs increased significantly after 2002, suggesting a risk of excessive iodine intake. Thus, salt iodization standardizations should be set according to local conditions.

  4. Antiendotoxin Immunity and C-Reactive Protein Level in Patients with Diffuse Toxic Goiter and Heart Pathology

    Directory of Open Access Journals (Sweden)

    V.A. Beloglazov

    2014-03-01

    Full Text Available The changes in cardiovascular system take one of the leading places in the clinic of diffuse toxic goiter (DTG and can define prognosis for a disease. Endotoxin (ET can be the inductor of a systemic inflammation in patients with DTG and aggravate its clinical course. From there, the purpose of this work was to study humoral and cellular antiendotoxin immunity and C-reactive protein (CRP level in patients with heart pathology. The level of antiendotoxin antibodies and CRP were studied by enzyme-linked immunosorbent assay. As an antigen, we used ET of the Gram-negative Escheriсhia coli K30 (09:K30:P12, isolated from bacterial biomass by method of water phenol extraction and additionally purified from RNA admixtures using cetavlon processing (Serva, Германия. Receptors to ET were determined by flow lase cytometry using a two-color immunofluorescence analysis using a monoclonal anti-CD14-PE IOTest® (CD14 and conjugate of lipopolysaccharide Escherichia coli K235 with fluorescein isothiocyanate (ET-P. For the study we allocated 3 groups of patients. The first group included 11 patients with DTG who do not have heart disease, the second group consisted of 47 patients with DTG and endocrine cardiomyopathy complicated by arrhythmia, and the third group — 13 patients with DTG and concomitant ischemic heart disease (IHD. Control group consisted of 33 apparently healthy subjects. It is found that in all patients with DTG and heart pathology, a possible reduction of anti-ET-sIgA, anti-ET-IgM and anti-ET-IG is observed in comparison with the control group. This is accompanied by an increase in CRP levels in these groups, especially in patients with DTG and IHD, in whom its level was significantly higher than in patients with DTG and without heart disease. Analysis of literature data and our results confirm the hypothesis that extravasation of the excess amount of ET into the bloodstream depletes reserves of synthesis of specific antibodies

  5. Effect of 30 mCi radioiodine on multinodular goiter previously treated with recombinant human thyroid-stimulating hormone

    Energy Technology Data Exchange (ETDEWEB)

    Paz-Filho, G.J.; Mesa-Junior, C.O.; Boguszewski, C.L.; Carvalho, G.A.; Graf, H. [Universidade Federal do Parana (UFPR), Curitiba, PR (Brazil). Hospital de Clinicas. Servico de Endocrinologia e Metabologia; Olandoski, M. [Pontificia Univ. Catolica do Parana, Curitiba, PR (Brazil). Nucleo de Bioestatistica; Woellner, L.C. [Centro de Medicina Nuclear, Curitiba, PR (Brazil); Goedert, C.A. [Centro de Tomografia Computadorizada, Curitiba, PR (Brazil)

    2007-12-15

    Recombinant human thyroid-stimulating hormone (rhTSH) enhances {sup 131}I uptake, permitting a decrease in radiation for the treatment of multinodular goiter (MNG). Our objective was to evaluate the safety and efficacy of a single 0.1-mg dose of rhTSH, followed by 30 mCi {sup 131}I, in patients with MNG. Seventeen patients (15 females, 59.0 {+-} 13.1 years), who had never been submitted to {sup 131}I therapy, received a single 0.1-mg injection of rhTSH followed by 30 mCi {sup 131}I on the next day. Mean basal thyroid volume measured by computed tomography was 106.1 {+-} 64.4 mL. {sup 131}I 24-h uptake, TSH, free-T4, T3, thyroglobulin, anti-thyroid antibodies, and thyroid volume were evaluated at regular intervals of 12 months. Mean {sup 131}I 24-h uptake increased from 18.1 {+-} 9.7 to 49.6 {+-} 13.4% (P < 0.001), a median 2.6-fold increase (1.2 to 9.2). Peak hormonal levels were 10.86 {+-} 5.44 mU/L for TSH (a median 15.5-fold increase), 1.80 {+-} 0.48 ng/dL for free-T4, 204.61 {+-} 58.37 ng/dL for T3, and a median of 557.0 ng/mL for thyroglobulin. The adverse effects observed were hyperthyroidism (17.6%), painful thyroiditis (29.4%) and hypothyroidism (52.9%). Thyroid volume was reduced by 34.3 {+-} 14.3% after 6 months (P < 0.001) and by 46.0 {+-} 14.6% after 1 year (P < 0.001). Treatment of MNG with a single 0.1-mg dose of rhTSH, followed by a fixed amount of radioactivity of {sup 131}I, leads to an efficacious decrease in thyroid volume for the majority of the patients, with a moderate incidence of non-serious and readily treatable adverse effects. (author)

  6. The effects of oral iodized oil on intelligence, thyroid status, and somatic growth in school-age children from an area of endemic goiter.

    Science.gov (United States)

    Bautista, A; Barker, P A; Dunn, J T; Sanchez, M; Kaiser, D L

    1982-01-01

    One hundred goitrous school children received 475 mg iodized oil by mouth, while 100 controls received mineral oil, on a double-blind basis. On follow-up 22 months later the urinary iodine had increased and goiter size had decreased in both groups, more strikingly in the iodine-treated children. There were no consistent differences between the two treatment groups in rate of somatic growth or performance on the Stanford-Binet and Bender tests. Because of the complexities introduced by increases in urinary iodine in the controls, we compared goiter reduction with improvement in IQ score in all children, regardless of group, and found a significant relationship (p = 0.014), particularly in girls (p = 0.029). We conclude that oral iodized oil is an attractive alternative to its injection but we recommend an approximate doubling of the dose used here for more effective control. Also, while our data are not conclusive, they support the possibility that correction of iodine deficiency may improve mental performance in school age children, particularly girls.

  7. Radioiodine therapy in elderly patients with subclinical hyperthyroidism due to non-voluminous nodular goiter and its effect on bone metabolism

    Energy Technology Data Exchange (ETDEWEB)

    Rosario, Pedro Weslley [Santa Casa de Belo Horizonte, MG (Brazil). Endocrinology Service

    2013-05-01

    Objective: To evaluate {sup 131}I therapy in elderly patients with subclinical hyperthyroidism (SCH) due to nodular disease and who did not receive antithyroid drugs (ATDs), and the effect of the treatment on bone metabolism. Subjects and methods: Thirty-six patients with TSH {<=} 0.1mIU/L and non-voluminous goiter (< 60 cm{sup 3} were studied. Bone mineral density (BMD) was assessed in 17 women with osteopenia. Results: Mean 24-h {sup 131}I uptake was 17.5%. Symptoms of thyrotoxicosis were reported by two (5.5%) patients in the first week after therapy. One year after radioiodine treatment, SCH was resolved in 30 (83.3%) patients, and hypothyroidism was detected in one (2.7%). In the patients in whom TSH returned to normal, femoral and lumbar spine BMD increased by 1.9% and 1.6%, respectively, in average. Conclusions: In elderly patients with SCH and non-voluminous goiter, radioiodine not preceded by ATDs is a safe and effective therapeutic alternative. Resolution of SCH has beneficial effects on BMD in postmenopausal women with osteopenia. (author)

  8. Genetic and physical analysis of a YAC contig spanning the fungal disease resistance locus Asc of tomato (Lycopersicon esculentum)

    NARCIS (Netherlands)

    Mesbah, L.A.; Kneppers, T.J.A.; Takken, F.L.W.; Laurent, P.; Hille, J.; Nijkamp, H.J.J.

    1998-01-01

    The Alternaria stem canker disease of tomato is caused by the necrotrophic fungal pathogen Alternaria alternata f. sp. lycopersici (AAL). The fungus produces AAL toxins that kill the plant tissue. Resistance to the fungus segregates as a single locus, called Asc, and has been genetically mapped on

  9. Genetic and physical analysis of a YAC contig spannig the fungal disease resistance locus Asc of tomato (Lycopersicon esculentum)

    NARCIS (Netherlands)

    Mesbah, L.A.; Kneppers, T.J.A.; Takken, F.L.W.; Laurent, P.J.F.; Hille, J.; Nijkamp, H.J.J.

    1999-01-01

    The Alternaria in stem canker disease of tomato is caused by the necrotrophic fungal pathogen Alternaria alternata f. sp. lycopersici (AAL). The fungus produces AAL toxins that kill the plant tissue. Resistance to the fungus segregates as a single locus, called Asc, and has been genetically mapped

  10. New polymorphisms within the variable number tandem repeat (VNTR) 7 locus of Mycobacterium avium subsp. paratuberculosis.

    Science.gov (United States)

    Fawzy, Ahmad; Zschöck, Michael; Ewers, Christa; Eisenberg, Tobias

    2016-06-01

    Variable number tandem repeat (VNTR) is a frequently employed typing method of Mycobacterium avium paratuberculosis (MAP) isolates. Based on whole genome sequencing in a previous study, allelic diversity at some VNTR loci seems to over- or under-estimate the actual phylogenetic variance among isolates. Interestingly, two closely related isolates on one farm showed polymorphism at the VNTR 7 locus, raising concerns about the misleading role that it might play in genotyping. We aimed to investigate the underlying basis of VNTR 7-polymorphism by analyzing sequence data for published genomes and field isolates of MAP and other M. avium complex (MAC) members. In contrast to MAP strains from cattle, strains from sheep displayed an "imperfect" repeat within VNTR 7, which was identical to respective allele types in other MAC genomes. Subspecies- and strain-specific single nucleotide polymorphisms (SNPs) and two novel (16 and 56 bp) repeats were detected. Given the combination of the three existing repeats, there are at least five different patterns for VNTR 7. The present findings highlight a higher polymorphism and probable instability of VNTR 7 locus that needs to be considered and challenged in future studies. Until then, sequencing of this locus in future studies is important to correctly assign the underlying allele types.(1). Copyright © 2016 Elsevier Ltd. All rights reserved.

  11. Perbedaan Work-Family Conflict Ditinjau dari Locus of Control Internal dan Locus of Control Eksternal Pada Karyawan

    OpenAIRE

    Habibie, Wahyu

    2016-01-01

    Work-family conflict is a conflict between roles in work and family that are conflicting with each other. One cause of work-family conflict is the locus of control, which is one of personality characteristics. Locus of control possessed by each individual and can be divided into internal locus of control and external locus of control. The aim of this study is to see the difference of work-family conflict in terms of internal locus of control and external locus of control on employee. This ...

  12. Modified-Release Recombinant Human TSH (MRrhTSH) Augments the Effect of 131I Therapy in Benign Multinodular Goiter: Results from a Multicenter International, Randomized, Placebo-Controlled Study

    DEFF Research Database (Denmark)

    Graf, H; Fast, S; Pacini, F

    2011-01-01

    Background: Recombinant human TSH (rhTSH) can be used to enhance (131)I therapy for shrinkage of multinodular goiter (MG). Objective, Design, and Setting: The objective of the study was to compare the efficacy and safety of 0.01 and 0.03 mg modified-release (MR) rhTSH as an adjuvant to (131)I...

  13. Phylogenetic Analysis of the SNORD116 Locus

    Directory of Open Access Journals (Sweden)

    Matthew A. Kocher

    2017-11-01

    Full Text Available The SNORD116 small nucleolar RNA locus (SNORD116@ is contained within the long noncoding RNA host gene SNHG14 on human chromosome 15q11-q13. The SNORD116 locus is a cluster of 28 or more small nucleolar (sno RNAs; C/D box (SNORDs. Individual RNAs within the cluster are tandem, highly similar sequences, referred to as SNORD116-1, SNORD116-2, etc., with the entire set referred to as SNORD116@. There are also related SNORD116 loci on other chromosomes, and these additional loci are conserved among primates. Inherited chromosomal 15q11-q13 deletions, encompassing the SNORD116@ locus, are causative for the paternally-inherited/maternally-imprinted genetic condition, Prader–Willi syndrome (PWS. Using in silico tools, along with molecular-based and sequenced-based confirmation, phylogenetic analysis of the SNORD116@ locus was performed. The consensus sequence for the SNORD116@ snoRNAs from various species was determined both for all the SNORD116 snoRNAs, as well as those grouped using sequence and location according to a human grouping convention. The implications of these findings are put in perspective for studying SNORD116 in patients with inherited Prader–Willi syndrome, as well as model organisms.

  14. Locus of Control and Reading Attitude.

    Science.gov (United States)

    Brown, Dorotha H.; And Others

    1979-01-01

    The relationship between three measures of locus of control and eight dimensions of reading attitude were investigated for a sample of inner-city children. Finds that inner-city children who are willing to accept personal responsibility for negative events in their lives also tend to experience more anxiety about their reading. (Author)

  15. Protease inhibitor (Pi) locus, fertility and twinning

    NARCIS (Netherlands)

    Boomsma, D.I.; Frants, R.R.; Bank, R.A.; Martin, N.G.

    1992-01-01

    In a sample of 160 Dutch twin pairs and their parents, we found that mothers of dizygotic twins had frequencies of the S and Z alleles at the protease inhibitor (Pi) locus that were 3 times higher than a control sample. Mothers of identical twins also had a higher frequency of S than controls. The S

  16. Toxic nodular goiter

    Science.gov (United States)

    ... are the same as those of an overactive thyroid gland ( hyperthyroidism ). However, the bulging eyeballs seen in Graves disease do not occur. Symptoms may include any of the following: Fatigue Frequent ...

  17. Evaluation of treatment with 15 mCi of 131I to patients bearing toxic diffuse goiter (graves disease)

    International Nuclear Information System (INIS)

    Filho, J.A.; Silva, J.M. Ferreira da; Santoro, C.

    2008-01-01

    Full text: The multiple interferences of the physical and social environment on the people, represented especially for the lack of iodine, the basic chemical element for good functioning of the thyroid, in interior or raised regions; in situations of nutritional deficiency or excess of that chemical element absorbed through foods and or drugs; by stress and inadequate feeding to which they are submitted, when facing assumed social responsibilities; for the rural exodus in search of new chances in the great cities; and especially, the women, for the consequences of the continuous use of contraceptives; for greater sensitivity to the humoral and tumoral answers etc., if it becomes the greater target of the thyroid disease called Toxic Diffuse Goiter or Graves disease, as is verified in this report, the existence of about 4 women for each 1 man. However, the implemented sanitary actions for the treatment that such complex diseases, demand, are not satisfactory. The applied doses, on average, are not satisfying the necessities, according to the study carried out with 180 patients (38 males and 142 females), with an average age of (43.6 ± 12.6) years, varying from 15 to 70 years; an average thyroid mass of (37.4 ± 19.5) g, varying from 19.0 to 89.3 g; an average 24-hour uptake of 131 I of (53.6 ± 20.3) %, varying from 20.5 88.1 %; that they had been submitted to in average radiotherapeutic activity of (15.0 ± 1.4) mCi, varying from 12 to 20 mCi; where the output was (41.1 ± 15.6) % and the rate of desistance reached (52.4 ± 15.3) %. A retrospective study on the radiotherapeutic efficiency, covering dozens of treatments and thousands of patients from dozens of countries, in physical, clinical and biokinetic situations of iodine uptake by he thyroid, on average, similar to ours showed that the most efficient average dose, compared with our averages of dosimetric parameters, was about 30.2-34.5 mCi, that is, 2.0-2.3 times bigger than that the applied here. The data

  18. The Impact of Locus of Control on Language Achievement

    Science.gov (United States)

    Nodoushan, Mohammad Ali Salmani

    2012-01-01

    This study hypothesized that students' loci of control affected their language achievement. 198 (N = 198) EFL students took the Rotter's (1966) locus of control test and were classified as locus-internal (ni = 78), and locus-external (ne = 120). They then took their ordinary courses and at the end of the semester, they were given their exams.…

  19. Self-Esteem, Locus of Control, and Student Achievement.

    Science.gov (United States)

    Sterbin, Allan; Rakow, Ernest

    The direct effects of locus of control and self-esteem on standardized test scores were studied. The relationships among the standardized test scores and measures of locus of control and self-esteem for 12,260 students from the National Education Longitudinal Study 1994 database were examined, using the same definition of locus of control and…

  20. A variational Bayes algorithm for fast and accurate multiple locus genome-wide association analysis

    Directory of Open Access Journals (Sweden)

    Mezey Jason G

    2010-01-01

    Full Text Available Abstract Background The success achieved by genome-wide association (GWA studies in the identification of candidate loci for complex diseases has been accompanied by an inability to explain the bulk of heritability. Here, we describe the algorithm V-Bay, a variational Bayes algorithm for multiple locus GWA analysis, which is designed to identify weaker associations that may contribute to this missing heritability. Results V-Bay provides a novel solution to the computational scaling constraints of most multiple locus methods and can complete a simultaneous analysis of a million genetic markers in a few hours, when using a desktop. Using a range of simulated genetic and GWA experimental scenarios, we demonstrate that V-Bay is highly accurate, and reliably identifies associations that are too weak to be discovered by single-marker testing approaches. V-Bay can also outperform a multiple locus analysis method based on the lasso, which has similar scaling properties for large numbers of genetic markers. For demonstration purposes, we also use V-Bay to confirm associations with gene expression in cell lines derived from the Phase II individuals of HapMap. Conclusions V-Bay is a versatile, fast, and accurate multiple locus GWA analysis tool for the practitioner interested in identifying weaker associations without high false positive rates.

  1. A rare case of asymptomatic radioiodine-avid renal and brain metastases 20 years after hemi-thyroidectomy for adenomatous goiter

    International Nuclear Information System (INIS)

    Santhosh, Sampath; Bhattacharya, Anish; Verma, Roshan Kumar; Lal, Anupam; Mittal, Bhagwant Rai

    2016-01-01

    A 65-year-old patient, with a history of left hemi-thyroidectomy for adenomatous goiter 20 years previously, was found to have pulmonary lesions on chest X-ray, a brain lesion on computerized tomography (CT), and elevated serum thyroglobulin (Tg). While completion thyroidectomy revealed that no pathological evidence of thyroid malignancy, radioiodine-avid pulmonary, brain, and renal and bone lesions were identified on diagnostic as well as posttherapy whole body planar scintigraphy and single photon emission computed tomography-CT. Subsequent ultrasonography-guided biopsy of a renal nodule showed thyroid follicular cells. This case suggests that metastatic differentiated thyroid carcinoma should be suspected in asymptomatic patients with incidentally detected lesions, raised serum Tg, and history of thyroid lesions

  2. Effect of neck position during radionuclide superior cavography. Its value in the diagnosis of superior vena cava obstruction due to retrosternal goiter

    International Nuclear Information System (INIS)

    Vincken, W.; Roels, P.; Soenstaboe, R.; DeGreve, J.; Bossuyt, A.; Jonckheer, M.

    1983-01-01

    In five patients with substernal goiter, three of whom presented with superior vena cava (SVC) syndrome, and in five normal subjects, radionuclide superior cavography (RNSC) was performed with extension and flexion of the neck during tracer administration (simultaneous bilateral injection of Tc- 99 m pertechnetate). When the tracer was injected during neck extension, venous flow pattern was abnormal in four of five patients, and transit time (TT) prolonged in three of five patients. In this posture, mean TT +/- 1 standard deviation (SD) was 6.3 +/- 2.6 s (range 3.5 to 9 s) for the five patients and 3.5 +/- 0.7 s (range 2.5 to 4.5 s) for a group of five control subjects. When the tracer was injected during neck flexion, all five patients showed abnormal flow patterns and prolonged TT (mean +/- 1 SD 10.1 +/- 4.1 s; range 4.4 to 16 s), in contrast to the control group where a slight decrease in TT was found (mean +/- 1 SD 3 +/- 0.6 s; range 2 to 3.5 s). In the presence of a substernal goiter, or any mobile mass at the thoracic inlet, impairment of venous flow through the SVC system appears to be a common occurrence, readily detectable by RNSC. RNSC should be performed with neck flexion during tracer injection, since in this posture its ability to detect compromised venous flow through the SVC system is enhanced, even in patients without a clinically apparent SVC syndrome

  3. An Abattoir Study of Ovine Maternal and Fetal Thyroid Lesions and the Respective Serum T3 andT4 Levels in an Endemic Goiter Region in Iran

    Directory of Open Access Journals (Sweden)

    Farid Barati

    2011-09-01

    Full Text Available AbstractThe objectives of the present study were to investigate the prevalence of histologic thyroids lesions and the respective thyroid hormones changes of ewes in an endemic goiter region and to find out any impact of this condition on the fetal thyroid structures and serum thyroid hormones. In the present study a total number of 100 pregnant ewes and their fetuses slaughtered at slaughterhouse were selected for the study. The sera were prepared from the jugular vein blood of ewes and fetuses umbilical cords. The ewes and fetuses thyroids subjected to histopathological examination and radioimmunoassay procedure was used for sera T3 and T4 assay. The results showed a high prevalence of thyroid lesions in ewes and their fetuses. The different kinds of lesions including cysts, follicular hyperplasia, hemorrhage and inflammation were seen in ewes. In the fetuses thyroid structural changes were cysts resemble structures; hemorrhage and hyperemia. Mean T4 concentration was significantly higher in the ewes with pathologic thyroid compared to normal animals. However, there was not any significant difference between pathologic and normal ewes’ thyroids on serum T3. Although, existence of lesions on fetal thyroids did not affect the serum concentrations of T4 and T3, there was a significant correlation between T4 and T3 serum concentrations of fetuses and their age. In conclusion, the significant prevalence of fetal and maternal thyroid pathological changes in the endemic goiter region raises a question about probable congenital source of these variations. The thyroid lesions significantly influenced the functions of mothers' gland but not fetuses.

  4. A monotonicity conjecture for real cubic maps

    Energy Technology Data Exchange (ETDEWEB)

    Dawson, S.P. [Los Alamos National Lab., NM (United States); Galeeva, R. [Northwestern Univ., Evanston, IL (United States); Milnor, J. [State Univ. of New York, Stony Brook, NY (United States); Tresser, C. [International Business Machines Corp., Yorktown Heights, NY (United States)

    1993-12-01

    This will be an outline of work in progress. We study the conjecture that the topological entropy of a real cubic map depends ``monotonely`` on its parameters, in the sense that each locus of constant entropy in parameter space is a connected set. This material will be presented in more detail in a later paper.

  5. Bipolar disorder: Evidence for a major locus

    Energy Technology Data Exchange (ETDEWEB)

    Spence, M.A.; Flodman, P.L. [Univ. of California, Irvine, CA (United States); Sadovnick, A.D.; Ameli, H. [Univ. of British Columbia, Vancouver (Canada)] [and others

    1995-10-09

    Complex segregation analyses were conducted on families of bipolar I and bipolar II probands to delineate the mode of inheritance. The probands were ascertained from consecutive referrals to the Mood Disorder Service, University Hospital, University of British Columbia and diagnosed by DSM-III-R and Research Diagnostic Criteria. Data were available on over 1,500 first-degree relatives of the 186 Caucasian probands. The purpose of the analyses was to determine if, after correcting for age and birth cohort, there was evidence for a single major locus. Five models were fit to the data using the statistical package SAGE: (1) dominant, (2) recessive, (3) arbitrary mendelian inheritance, (4) environmental, and (5) no major effects. A single dominant, mendelian major locus was the best fitting of these models for the sample of bipolar I and II probands when only bipolar relatives were defined as affected (polygenic inheritance could not be tested). Adding recurrent major depression to the diagnosis {open_quotes}affected{close_quotes} for relatives reduced the evidence for a major locus effect. Our findings support the undertaking of linkage studies and are consistent with the analyses of the National Institutes of Mental Health (NIMH) Collaborative Study data by Rice et al. and Blangero and Elston. 39 refs., 4 tabs.

  6. Genome-wide association study identifies a novel canine glaucoma locus.

    Directory of Open Access Journals (Sweden)

    Saija J Ahonen

    Full Text Available Glaucoma is an optic neuropathy and one of the leading causes of blindness. Its hereditary forms are classified into primary closed-angle (PCAG, primary open-angle (POAG and primary congenital glaucoma (PCG. Although many loci have been mapped in human, only a few genes have been identified that are associated with the development of glaucoma and the genetic basis of the disease remains poorly understood. Glaucoma has also been described in many dog breeds, including Dandie Dinmont Terriers (DDT in which it is a late-onset (>7 years disease. We designed clinical and genetic studies to better define the clinical features of glaucoma in the DDT and to identify the genetic cause. Clinical diagnosis was based on ophthalmic examinations of the affected dogs and 18 additionally investigated unaffected DDTs. We collected DNA from over 400 DTTs and a genome wide association study was performed in a cohort of 23 affected and 23 controls, followed by a fine mapping, a replication study and candidate gene sequencing. The clinical study suggested that ocular abnormalities including abnormal iridocorneal angles and pectinate ligament dysplasia are common (50% and 72%, respectively in the breed and the disease resembles human PCAG. The genetic study identified a novel 9.5 Mb locus on canine chromosome 8 including the 1.6 Mb best associated region (p = 1.63 × 10(-10, OR = 32 for homozygosity. Mutation screening in five candidate genes did not reveal any causative variants. This study indicates that although ocular abnormalities are common in DDTs, the genetic risk for glaucoma is conferred by a novel locus on CFA8. The canine locus shares synteny to a region in human chromosome 14q, which harbors several loci associated with POAG and PCG. Our study reveals a new locus for canine glaucoma and ongoing molecular studies will likely help to understand the genetic etiology of the disease.

  7. Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

    Science.gov (United States)

    Brooks, Simon; Ebenezer, Neil; Poopalasundaram, Subathra; Maher, Eamonn; Francis, Peter; Moore, Anthony; Hardcastle, Alison

    2004-06-01

    The X-linked congenital cataract (CXN) locus has been mapped to a 3-cM (approximately 3.5 Mb) interval on chromosome Xp22.13, which is syntenic to the mouse cataract disease locus Xcat and encompasses the recently refined Nance-Horan syndrome (NHS) locus. A positional cloning strategy has been adopted to identify the causative gene. In an attempt to refine the CXN locus, seven microsatellites were analysed within 21 individuals of a CXN family. Haplotypes were reconstructed confirming disease segregation with markers on Xp22.13. In addition, a proximal cross-over was observed between markers S3 and S4, thereby refining the CXN disease interval by approximately 400 Kb to 3.2 Mb, flanked by markers DXS9902 and S4. Two known genes (RAI2 and RBBP7) and a novel gene (TL1) were screened for mutations within an affected male from the CXN family and an NHS family by direct sequencing of coding exons and intron- exon splice sites. No mutations or polymorphisms were identified, therefore excluding them as disease-causative in CXN and NHS. In conclusion, the CXN locus has been successfully refined and excludes PPEF1 as a candidate gene. A further three candidates were excluded based on sequence analysis. Future positional cloning efforts will focus on the region of overlap between CXN, Xcat, and NHS.

  8. Data-driven assessment of eQTL mapping methods

    Directory of Open Access Journals (Sweden)

    Schughart Klaus

    2010-09-01

    Full Text Available Abstract Background The analysis of expression quantitative trait loci (eQTL is a potentially powerful way to detect transcriptional regulatory relationships at the genomic scale. However, eQTL data sets often go underexploited because legacy QTL methods are used to map the relationship between the expression trait and genotype. Often these methods are inappropriate for complex traits such as gene expression, particularly in the case of epistasis. Results Here we compare legacy QTL mapping methods with several modern multi-locus methods and evaluate their ability to produce eQTL that agree with independent external data in a systematic way. We found that the modern multi-locus methods (Random Forests, sparse partial least squares, lasso, and elastic net clearly outperformed the legacy QTL methods (Haley-Knott regression and composite interval mapping in terms of biological relevance of the mapped eQTL. In particular, we found that our new approach, based on Random Forests, showed superior performance among the multi-locus methods. Conclusions Benchmarks based on the recapitulation of experimental findings provide valuable insight when selecting the appropriate eQTL mapping method. Our battery of tests suggests that Random Forests map eQTL that are more likely to be validated by independent data, when compared to competing multi-locus and legacy eQTL mapping methods.

  9. Locus of control and online learning

    Directory of Open Access Journals (Sweden)

    Suretha Esterhuysen

    2004-10-01

    Full Text Available The integration of online learning in university courses is considered to be both inevitable and necessary. Thus there is an increasing need to raise awareness among educators and course designers about the critical issues impacting on online learning. The aim of this study, therefore, was to assess the differences between two groups of first-year Business Sciences learners (online and conventional learners in terms of biographic and demographic characteristics and locus of control. The study population consisted of 586 first-year learners of whom 185 completed the Locus of Control Inventory (LCI. The results show that the two groups of learners do not differ statistically significantly from each other with respect to locus of control. The findings and their implications are also discussed. Opsomming Die integrasie van aanlyn-leer in universiteitskursusse word beskou as sowel onafwendbaar as noodsaaklik. Daar is dus ’n toenemende behoefte om bewustheid onder opvoedkundiges en kursusontwerpers te kweek oor die kritiese aspekte wat ’n impak op aanlyn-leer het (Morgan, 1996. Daarom was die doel van hierdie ondersoek om die verskille tussen twee groepe eerstejaarleerders in Bestuurs- en Ekonomiese Wetenskap (aanlyn en konvensionele leerders te bepaal ten opsigte van biografiese en demografiese eienskappe en lokus van beheer. Die populasie het bestaan uit 586 eerstejaarleerders waarvan 185 die Lokus van Beheer Vraelys voltooi het. Die resultate toon dat die twee groepe leerders nie statisties beduidend van mekaar verskil het met betrekking tot lokus van beheer nie. Die bevindinge en implikasies word ook bespreek.

  10. Root Locus Algorithms for Programmable Pocket Calculators

    Science.gov (United States)

    Wechsler, E. R.

    1983-01-01

    Two algorithms are described which allow the plotting of individual points on a root locus diagram with or without time delay. The development was performed during the design of a continuous phase shifter used in the Baseband Antenna Combiner for the Deep Space Network (DSN). The algorithms, which are expected to be useful in similar DSN efforts, are simple enough to be implemented on a programmable pocket calculator. The coordinates of the open-loop zeros and poles, the gain constant K, and the time delay T are the data inputs.

  11. Cut Locus Construction using Deformable Simplicial Complexes

    DEFF Research Database (Denmark)

    Misztal, Marek Krzysztof; Bærentzen, Jakob Andreas; Anton, François

    2011-01-01

    In this paper we present a method for appproximating cut loci for a given point p on Riemannian 2D manifolds, closely related to the notion of Voronoi diagrams. Our method finds the cut locus by advecting a front of points equally distant from p along the geodesics originating at p and finding...... the lines of self-intersections of the front in the parametric space. This becomes possible by using the deformable simplicial complexes (DSC, [1]) method for deformable interface tracking. DSC provide a simple collision detection mechanism, allows for interface topology control, and does not require...

  12. Impact of locus of control on health message effectiveness.

    Science.gov (United States)

    Kong, Ying; Shen, Fuyuan

    2011-10-01

    This article examined how individuals' locus of control might moderate the effect of health message frames. An experiment was conducted whereby participants read either individual- or social-responsibility message frames after their locus of control was primed. Results indicated that messages presented in individual-responsibility frames were more persuasive when people were primed with internal locus of control, whereas social-responsibility framed appeals were more persuasive when people were primed with external locus of control. These results were found for individuals in both high and low cognitive load conditions. Theoretical and practical implications of the findings are discussed.

  13. Estimation of efficacy of echinacea compositum C and teraflex application in orthodontic moving of teeth on the background of experimental goiter

    Directory of Open Access Journals (Sweden)

    Kolesnik K.A.

    2013-06-01

    Full Text Available Disturbances of the thyroid status may be negatively reflected on the biological processes underlying orthodontic tooth movement. Research object – in experiment to estimate efficacy of application of drug complex with osteotropic and immunomodulating action in orthodontic moving of teeth (ОМT on the background of euthyroid goiter. In 75 rats of Vistar line of gregarious breeding (females, 5 months, 210±28 g experimental goiter was modeled by injection of 1% perchlorate potassium solution with drinking water within 20 days. Intragastric solution of potassium Iodidum (PI in the dose of 20 mkg/kg was introduced to rats of the 3rd, 4th and 5th groups from the 22nd day. Intragastrically drug «Echinacea compositum C» was introduced to animals of the 3rd and 5th groups from the 22nd day during 5 days. OMT was reproduced on the 29th day from the beginning of experiment. On the background of PI injection, teraflex in a dose on glucosaminglican of 750 mg/kg was introduced to the rats of the 4th and 5th groups. A mandible for calculation of carious cavities and definition of atrophy degree of an alveolar process, and the maxilla – for definition of alkaline activity, acidic phosphatase, elastase and general proteolytic activity (GPA, pulp of incisors – for phosphatases definition of activity were isolated. Echinacea compositum, potassium Iodidum and teraflex in the idea of monotherapy caused some positive influence on phosphatases of an alveolar bone. To completely prevent disturbances of activity of bone phosphatases and proteinases was possibly only at application of a full complex: PІ – throughout all treatment, echinacea compositum C – before fixation of closing springs, teraflex – after fixation. Thus, stage-by-stage use of drugs – potassium Iodidum, «Echinacea compositum C» and Teraflex promoted to normalization of activity of alkaline and acidic phosphatase in pulp and bone tissue of alveolar process, and rendered protective

  14. Beyond the locus of spectrally pure colors

    Science.gov (United States)

    Fairchild, Mark D.

    2008-01-01

    The spectrum locus of a CIE chromaticity diagram defines the boundary within which all physically realizable color stimuli must fall. While that is a physical and mathematical reality that cannot be violated, it is possible to create colors that appear as if they were produced by physically impossible stimuli. This can be accomplished through careful control of the viewing conditions and states of adaptation. This paper highlights the importance of considering color appearance issues in the design of displays and specification of color gamuts and illustrates how the perceived color gamut can be manipulated significantly through the relationship between white-point and primary luminance levels without changing the chromaticity gamut of a display system. Using a color appearance model, such as CIECAM02, display color gamuts can be specified in perceptual terms such as lightness, chroma, brightness, and colorfulness rather than in strictly physical terms of the stimuli that create these perceptions. Examination of these perceptual gamuts, and their relationships to the viewing conditions, allows demonstration of the possibility of producing display gamuts that appear to reach beyond the locus of pure spectral colors when compared with typical display setups.

  15. Sequence divergence of Mus spretus and Mus musculus across a skin cancer susceptibility locus

    Directory of Open Access Journals (Sweden)

    Balmain Allan

    2008-12-01

    Full Text Available Abstract Background Mus spretus diverged from Mus musculus over one million years ago. These mice are genetically and phenotypically divergent. Despite the value of utilizing M. musculus and M. spretus for quantitative trait locus (QTL mapping, relatively little genomic information on M. spretus exists, and most of the available sequence and polymorphic data is for one strain of M. spretus, Spret/Ei. In previous work, we mapped fifteen loci for skin cancer susceptibility using four different M. spretus by M. musculus F1 backcrosses. One locus, skin tumor susceptibility 5 (Skts5 on chromosome 12, shows strong linkage in one cross. Results To identify potential candidate genes for Skts5, we sequenced 65 named and unnamed genes and coding elements mapping to the peak linkage area in outbred spretus, Spret/EiJ, FVB/NJ, and NIH/Ola. We identified polymorphisms in 62 of 65 genes including 122 amino acid substitutions. To look for polymorphisms consistent with the linkage data, we sequenced exons with amino acid polymorphisms in two additional M. spretus strains and one additional M. musculus strain generating 40.1 kb of sequence data. Eight candidate variants were identified that fit with the linkage data. To determine the degree of variation across M. spretus, we conducted phylogenetic analyses. The relatedness of the M. spretus strains at this locus is consistent with the proximity of region of ascertainment of the ancestral mice. Conclusion Our analyses suggest that, if Skts5 on chromosome 12 is representative of other regions in the genome, then published genomic data for Spret/EiJ are likely to be of high utility for genomic studies in other M. spretus strains.

  16. The Blue Tip of the Stellar Locus: Measuring Reddening with the Sloan Digital Sky Survey

    OpenAIRE

    Schlafly, Edward F.; Finkbeiner, Douglas; Schlegel, David J.; Juric, Mario; Ivezic, Zeljko; Gibson, Robert R.; Knapp, Gillian R.; Weaver, Benjamin A.

    2010-01-01

    We present measurements of reddening due to dust using the colors of stars in the Sloan Digital Sky Survey (SDSS). We measure the color of main-sequence turnoff stars by finding the "blue tip" of the stellar locus: the prominent blue edge in the distribution of stellar colors. The method is sensitive to color changes of order 18, 12, 7, and 8 mmag of reddening in the colors u – g, g – r, r – i, and i – z, respectively, in regions measuring 90' by 14'. We present maps of the blue tip colors in...

  17. Quantitative Trait Locus and Genetical Genomics Analysis Identifies Putatively Causal Genes for Fecundity and Brooding in the Chicken.

    Science.gov (United States)

    Johnsson, Martin; Jonsson, Kenneth B; Andersson, Leif; Jensen, Per; Wright, Dominic

    2015-12-04

    Life history traits such as fecundity are important to evolution because they make up components of lifetime fitness. Due to their polygenic architectures, such traits are difficult to investigate with genetic mapping. Therefore, little is known about their molecular basis. One possible way toward finding the underlying genes is to map intermediary molecular phenotypes, such as gene expression traits. We set out to map candidate quantitative trait genes for egg fecundity in the chicken by combining quantitative trait locus mapping in an advanced intercross of wild by domestic chickens with expression quantitative trait locus mapping in the same birds. We measured individual egg fecundity in 232 intercross chickens in two consecutive trials, the second one aimed at measuring brooding. We found 12 loci for different aspects of egg fecundity. We then combined the genomic confidence intervals of these loci with expression quantitative trait loci from bone and hypothalamus in the same intercross. Overlaps between egg loci and expression loci, and trait-gene expression correlations identify 29 candidates from bone and five from hypothalamus. The candidate quantitative trait genes include fibroblast growth factor 1, and mitochondrial ribosomal proteins L42 and L32. In summary, we found putative quantitative trait genes for egg traits in the chicken that may have been affected by regulatory variants under chicken domestication. These represent, to the best of our knowledge, some of the first candidate genes identified by genome-wide mapping for life history traits in an avian species. Copyright © 2016 Johnsson et al.

  18. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

    Science.gov (United States)

    Khan, Shahid Yar; Riazuddin, Saima; Shahzad, Mohsin; Ahmed, Nazir; Zafar, Ahmad Usman; Rehman, Atteeq Ur; Morell, Robert J; Griffith, Andrew J; Ahmed, Zubair M; Riazuddin, Sheikh; Friedman, Thomas B

    2010-01-01

    Genetic analysis of an inbred Pakistani family PKDF280, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for a DFNB locus on human chromosome 9q34.3. Co-segregation of the deafness trait with marker D9SH159 was determined by a two-point linkage analysis (LOD score 9.43 at theta=0). Two additional large families, PKDF517 and PKDF741, co-segregate recessive deafness with markers linked to the same interval. Haplotype analyses of these three families refined the interval to 3.84 Mb defined by D9S1818 (centromeric) and D9SH6 (telomeric). This interval overlaps with the previously reported DFNB33 locus whose chromosomal map position has been recently revised and assigned to a new position on chromosome 10p11.23-q21.1. The nonsyndromic deafness locus on chromosome 9q segregating in family PKDF280 was designated DFNB79. We are currently screening the 113 candidate DFNB79 genes for mutations and have excluded CACNA1B, EDF1, PTGDS, EHMT1, QSOX2, NOTCH1, MIR126 and MIR602.

  19. Structure of a Thyroid Gland Pathologies in a Population of Children and the Teenagers Living in Conditions Endemic Goiter of Northern Territories by Results of Ultrasonic Researches

    Directory of Open Access Journals (Sweden)

    Y Girsh

    2009-12-01

    Full Text Available For studying structure pathologies of a thyroid gland at children and the teenagers living in northern territories Khanty-Mansiysk of autonomous region, for the period 2000–2008 the retrospective analysis of results of 3002 ultrasonic researches of a thyroid gland is lead To 32.7% of cases at children and teenagers attributes endemic goiter a craw are revealed. Chronic lymphocytic thyroiditis, changes thyroid gland, are revealed in 4.2% of cases. The one-central and multinodal craw was made with 2.1 and 0.7%, accordingly. In 60.3% according to ultrasonic of inspection of pathology a thyroid gland it is not revealed. The basic ultrasonic models colloidal a craw, central cellular a craw and an adenoma of a thyroid gland are developed. The estimation of criteria the importance of the given models is lead, the estimation of results has allowed to consider, that the received ultrasonic models were adequate for ultrasound research.

  20. Elevated Serum Thyroglobulin and Low Iodine Intake Are Associated with Nontoxic Nodular Goiter among Adults Living near the Eastern Mediterranean Coast

    Directory of Open Access Journals (Sweden)

    Yaniv S. Ovadia

    2014-01-01

    Full Text Available Background. Information about iodine intake is crucial for preventing thyroid diseases. Inadequate iodine intake can lead to thyroid diseases, including nontoxic nodular goiter (NNG. Objective. To estimate iodine intake and explore its correlation with thyroid diseases among Israeli adults living near the Mediterranean coast, where iodine-depleted desalinated water has become a major source of drinking water. Methods. Cross-sectional study of patients attending Barzilai Medical Center Ashkelon. Participants, who were classified as either NNG (n=17, hypothyroidism (n=14, or control (n=31, provided serum thyroglobulin (Tg and completed a semiquantitative iodine food frequency questionnaire. Results. Elevated serum Tg values (Tg > 60 ng/mL were significantly more prevalent in the NNG group than in the other groups (29% versus 7% and 0% for hypothyroidism and controls, resp., P<0.05. Mean estimated iodine intake was significantly lower in the NNG group (65±30 μg/d than in controls (115±60 μg/d (P<0.05 with intermediate intake in the hypothyroid group (73±38 μg/d. Conclusions. Elevated serum Tg values and low dietary iodine intake are associated with NNG among adult patients in Ashkelon District, Israel. Larger studies are needed in order to expand on these important initial findings.

  1. The Barley Chromosome 5 Linkage Map

    DEFF Research Database (Denmark)

    Jensen, J.; Jørgensen, Jørgen Helms

    1975-01-01

    The distances between nine loci on barley chromosome 5 have been studied in five two-point tests, three three-point tests, and one four-point test. Our previous chromosome 5 linkage map, which contained eleven loci mapped from literature data (Jensen and Jørgensen 1975), is extended with four loci......: wst5 (white streaks), necl (necrotic leaf spots), Ml-nn (powdery mildew resistance), and Pa4 (leaf rust resistance). Further, the two sections of the map are united, and the precision of the map is improved. A system for designating the positions of the loci on the linkage map is proposed. A 0......-position is fixed on the map by a locus (necl), which has a good marker gene located centrally in the linkage group. The positions of the other loci are their distances in centimorgans from the 0-position; loci in the direction of the short chromosome arm are assigned positive values and those...

  2. The 3p21.1-p21.3 hereditary vascular retinopathy locus increases the risk for Raynaud's phenomenon and migraine

    NARCIS (Netherlands)

    Hottenga, J. J.; Vanmolkot, K. R. J.; Kors, E. E.; Kheradmand Kia, S.; de Jong, P. T. V. M.; Haan, J.; Terwindt, G. M.; Frants, R. R.; Ferrari, M. D.; van den Maagdenberg, A. M. J. M.

    2005-01-01

    Previously, we described a large Dutch family with hereditary vascular retinopathy (HVR), Raynaud's phenomenon and migraine. A locus for HVR was mapped on chromosome 3p21.1-p21.3, but the gene has not yet been identified. The fact that all three disorders share a vascular aetiology prompted us to

  3. Comparison of Spinach Sex Chromosomes with Sugar Beet Autosomes Reveals Extensive Synteny and Low Recombination at the Male-Determining Locus.

    Science.gov (United States)

    Takahata, Satoshi; Yago, Takumi; Iwabuchi, Keisuke; Hirakawa, Hideki; Suzuki, Yutaka; Onodera, Yasuyuki

    2016-01-01

    Spinach (Spinacia oleracea, 2n = 12) and sugar beet (Beta vulgaris, 2n = 18) are important crop members of the family Chenopodiaceae ss Sugar beet has a basic chromosome number of 9 and a cosexual breeding system, as do most members of the Chenopodiaceae ss. family. By contrast, spinach has a basic chromosome number of 6 and, although certain cultivars and genotypes produce monoecious plants, is considered to be a dioecious species. The loci determining male and monoecious sexual expression were mapped to different loci on the spinach sex chromosomes. In this study, a linkage map with 46 mapped protein-coding sequences was constructed for the spinach sex chromosomes. Comparison of the linkage map with a reference genome sequence of sugar beet revealed that the spinach sex chromosomes exhibited extensive synteny with sugar beet chromosomes 4 and 9. Tightly linked protein-coding genes linked to the male-determining locus in spinach corresponded to genes located in or around the putative pericentromeric and centromeric regions of sugar beet chromosomes 4 and 9, supporting the observation that recombination rates were low in the vicinity of the male-determining locus. The locus for monoecism was confined to a chromosomal segment corresponding to a region of approximately 1.7Mb on sugar beet chromosome 9, which may facilitate future positional cloning of the locus. © The American Genetic Association 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  4. Refined localization of the Escherichia coli F4ab/F4ac receptor locus on pig chromosome 13

    DEFF Research Database (Denmark)

    Joller, D.; Jørgensen, Claus Bøttcher; Bertschinger, H.U.

    2009-01-01

    Diarrhoea in newborn and weaned pigs caused by enterotoxigenic Escherichia coli (ETEC) expressing F4 fimbriae leads to considerable losses in pig production. In this study, we refined the mapping of the receptor locus for ETEC F4ab/F4ac adhesion (F4bcR) by joint analysis of Nordic and Swiss data....

  5. Personality and Locus of Control among School Children

    Science.gov (United States)

    Pandya, Archana A.; Jogsan, Yogesh A.

    2013-01-01

    The main purpose of this investigation is to find out the sex differences in personality traits and locus of control among school children. A total 60 children (30 boys and 30 girls) were taken as a sample. The research tool for personality, children personality questionnaire was used, which was made by Cattell and Porter. Locus of control was…

  6. Locus of control and investment in risky assets

    NARCIS (Netherlands)

    Salamanca Acosta, N.; de Grip, A.; Fouarge, D.; Montizaan, R.M.

    2013-01-01

    Using representative household panel data, we show that the investment behavior of households is related to the economic locus of control of household heads. A household’s internal locus of control in economic issues is positively related to its decision to hold risky assets as well as its share of

  7. Metacognition: As a Predictor of One's Academic Locus of Control

    Science.gov (United States)

    Arslan, Serhat; Akin, Ahmet

    2014-01-01

    The purpose of this study is to examine the effect of metacognition on one's academic locus of control. The study's sample group consists of 451 university students enrolled in various programs at Sakarya University, Turkey. In this study, the Metacognitive Awareness Inventory and the Academic Locus of Control Scale were used. The correlations and…

  8. Locus of control and investment in risky assets

    NARCIS (Netherlands)

    Salamanca, N.; de Grip, A.; Fouarge, D.; Montizaan, R.M.

    2013-01-01

    Using representative household panel data, we show that the investment behavior of households is related to the economic locus of control of household heads. A household's internal locus of control in economic issues is positively related to its decision to hold risky assets as well as its share of

  9. Locus - ASTRA | LSDB Archive [Life Science Database Archive metadata

    Lifescience Database Archive (English)

    Full Text Available switchLanguage; BLAST Search Image Search Home About Archive Update History Data ...URL: ftp://ftp.biosciencedbc.jp/archive/astra/LATEST/astra_locus.zip File size: 887 KB Simple search URL htt...icing type (ex. cassette) About This Database Database Description Download License Update History of This Database Site Policy | Contact Us Locus - ASTRA | LSDB Archive ...

  10. Locus of Control and Death Anxiety: A Reexamination.

    Science.gov (United States)

    Sadowski, Cyril J.; And Others

    1979-01-01

    Examined the relationship between locus of control and death anxiety. The Reid-Ware Three Factor Locus of Control Scale and Templer Death Anxiety Scale were administered to college students aged 17 to 49. Death anxiety loaded significantly on the Fatalism dimension for males and on the Social System Control dimension for females. (Author/BWF)

  11. Is this Red Spot the Blue Spot (locus ceruleum)?

    Energy Technology Data Exchange (ETDEWEB)

    Choe, Won Sick; Lee, Yu Kyung; Lee, Min Kyung; Hwang, Kyung Hoon [Gachon University Gil Hospital, Incheon (Korea, Republic of)

    2010-06-15

    The authors report brain images of 18F-FDG-PET in a case of schizophrenia. The images showed strikingly increased bilateral uptake in the locus ceruleum. The locus ceruleum is called the blue spot and known to be a center of the norepinephrinergic system.

  12. Pharmacists as Entrepreneurs or Employees: The Role of Locus of ...

    African Journals Online (AJOL)

    Purpose: To investigate whether locus of control distinguished between pharmacists who chose to become entrepreneurs and those who took up employee roles in pharmaceutical establishments. Methods: The enlarged version of Rotter's I-E scale designed to measure an individual's locus of control was used to survey a ...

  13. Nucleotide variation at the methionine synthase locus in an ...

    African Journals Online (AJOL)

    Nucleotide variation at the methionine synthase (MetE) locus within and among populations of an endangered forest tree Fokienia hodginsii in Vietnam was investigated in the present study. A total of 12 populations were sampled across Vietnam. The length of the sequenced locus varied from 1567 to 1559 bp. A total of 42 ...

  14. Dental outpatients: health locus of control correlates.

    Science.gov (United States)

    Ludenia, K; Donham, G W

    1983-11-01

    Examined relationships between the Multidimensional Health Locus of Control (MHLC) Scales, Beck Depression Inventory, Trait subscales of the State-Trait Personality Inventory, and dental ratings of oral hygiene and presence of periodontal disease with dental outpatients (N = 101) at a Veterans Administration Medical Center Dental Clinic. Results indicated that this sample of outpatients scored comparably on MHLC Health Internality and Health Externality to a sample reported by Wallston and Wallston. Older dental patients, in the present sample, scored significantly higher on Powerful Others Externality in contrast to younger Ss, which suggests greater reliance on health professionals for dental health. Confirmatory evidence is presented on the negative correlations of depression, anger, and anxiety with Health Internality. Differential approaches to dental treatment are discussed.

  15. Quantitative trait locus analysis in haplodiploid Hymenoptera

    NARCIS (Netherlands)

    Gadau, J.; Pietsch, C.; Beukeboom, L.W.; Rifkin, S.A.

    2012-01-01

    This article describes QTL analyses for solitary (Nasonia, a parasitoid wasp) and social hymenopteran species (honeybee and bumblebee). These exemplar QTL analyses determined the genetic basis of morphological, behavioral, and colony level traits. Mapping populations were derived either from lab

  16. Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.

    Directory of Open Access Journals (Sweden)

    Chantal E Hargreaves

    Full Text Available Cancer immunotherapy has been revolutionised by the use monoclonal antibodies (mAb that function through their interaction with Fc gamma receptors (FcγRs. The low-affinity FcγR genes are highly homologous, map to a complex locus at 1p23 and harbour single nucleotide polymorphisms (SNPs and copy number variation (CNV that can impact on receptor function and response to therapeutic mAbs. This complexity can hinder accurate characterisation of the locus. We therefore evaluated and optimised a suite of assays for the genomic analysis of the FcγR locus amenable to peripheral blood mononuclear cells and formalin-fixed paraffin-embedded (FFPE material that can be employed in a high-throughput manner. Assessment of TaqMan genotyping for FCGR2A-131H/R, FCGR3A-158F/V and FCGR2B-232I/T SNPs demonstrated the need for additional methods to discriminate genotypes for the FCGR3A-158F/V and FCGR2B-232I/T SNPs due to sequence homology and CNV in the region. A multiplex ligation-dependent probe amplification assay provided high quality SNP and CNV data in PBMC cases, but there was greater data variability in FFPE material in a manner that was predicted by the BIOMED-2 multiplex PCR protocol. In conclusion, we have evaluated a suite of assays for the genomic analysis of the FcγR locus that are scalable for application in large clinical trials of mAb therapy. These assays will ultimately help establish the importance of FcγR genetics in predicting response to antibody therapeutics.

  17. Locus of Control Orientation: Parents, Peers, and Place.

    Science.gov (United States)

    Ahlin, Eileen M; Lobo Antunes, Maria João

    2015-09-01

    An internal locus of control contributes to positive youth outcomes such as a general well-being and academic success, while also serving as a protective factor against exposure to community violence and reducing negative behaviors like violence. Despite these benefits, very little is known about antecedents of an internal locus of control orientation. Without an understanding of what factors contribute to the development of an internal locus of control, it is not clear how to best encourage its formation. This study uses data from the Project on Human Development in Chicago Neighborhoods to examine whether various mesosystem variables (family management strategies, peer interactions, neighborhood context, and individual-level characteristics) are associated with an internal locus of control orientation among 1,076 youth ages 9-19 living in 78 Chicago neighborhoods. Study participants were Hispanic (46 %), African American (34 %), and White (15 %), and 50 % were female. The findings suggest that, while most levels of the mesosystem influence locus of control orientation, family management strategies are more prominent determinants of an internal locus of control than peers, neighborhood context, or individual characteristics. Parental supervision over the time a youth spends at home and family socioeconomic status are consistent predictors of an internal locus of control, while harsh discipline is associated with an external locus of control. The discussion examines the import of various parenting techniques in shaping an internal locus of control and considers future avenues for research to further unpack how antecedents of locus of control can vary across youth.

  18. Onomastic Mapping

    Directory of Open Access Journals (Sweden)

    Yuliana Yu. Gordova

    2012-12-01

    Full Text Available Mapping the onomastic material and creating linguistic atlases of each region remains a significant and urgent problem of Russian onomastics. The paper summarizes the experience of onomastic cartography, and explains the concept of onomastic map as well as linguistic and technical principles of mapping. The author considers traditional objects of mapping and main map topics and describes new opportunities which become possible due to the creation of modern means and techniques of mapping. The paper is illustrated with toponymic maps, compiled by different researchers between 1970 and 2000.

  19. Health Locus of Control尺度開発の歴史(社会科学編)

    OpenAIRE

    吉田, 由美; Yumi, YOSHIDA; 千葉県立衛生短期大学(看護学); Chiba College of Health Science

    1994-01-01

    This article describes the origins history of Health Locus of Control scales. First, Rotter's social learing theory, which is the theoretical background of the Health Locus of Control construct, is outlined. The scale and research trends of Locus of Control concept, and those of Health Locus of Control concept which are based on Locus of Control, are then reviewed. Finally, Health Locus of Control is discussed with regard to the implications for health education.

  20. An S-locus independent pollen factor confers self-compatibility in 'Katy' apricot.

    Directory of Open Access Journals (Sweden)

    Elena Zuriaga

    Full Text Available Loss of pollen-S function in Prunus self-compatible cultivars has been mostly associated with deletions or insertions in the S-haplotype-specific F-box (SFB genes. However, self-compatible pollen-part mutants defective for non-S-locus factors have also been found, for instance, in the apricot (Prunus armeniaca cv. 'Canino'. In the present study, we report the genetic and molecular analysis of another self-compatible apricot cv. termed 'Katy'. S-genotype of 'Katy' was determined as S(1S(2 and S-RNase PCR-typing of selfing and outcrossing populations from 'Katy' showed that pollen gametes bearing either the S(1- or the S(2-haplotype were able to overcome self-incompatibility (SI barriers. Sequence analyses showed no SNP or indel affecting the SFB(1 and SFB(2 alleles from 'Katy' and, moreover, no evidence of pollen-S duplication was found. As a whole, the obtained results are compatible with the hypothesis that the loss-of-function of a S-locus unlinked factor gametophytically expressed in pollen (M'-locus leads to SI breakdown in 'Katy'. A mapping strategy based on segregation distortion loci mapped the M'-locus within an interval of 9.4 cM at the distal end of chr.3 corresponding to ∼1.29 Mb in the peach (Prunus persica genome. Interestingly, pollen-part mutations (PPMs causing self-compatibility (SC in the apricot cvs. 'Canino' and 'Katy' are located within an overlapping region of ∼273 Kb in chr.3. No evidence is yet available to discern if they affect the same gene or not, but molecular markers seem to indicate that both cultivars are genetically unrelated suggesting that every PPM may have arisen independently. Further research will be necessary to reveal the precise nature of 'Katy' PPM, but fine-mapping already enables SC marker-assisted selection and paves the way for future positional cloning of the underlying gene.

  1. Candidate regions for Waardenburg syndrome type II: Search for a second WS locus

    Energy Technology Data Exchange (ETDEWEB)

    Nance, W.E.; Pandya, A.; Blanton, S.H. [VA Commonwealth Univ, Richmond, VA (United States)] [and others

    1994-09-01

    Waardenburg syndrome is an autosomal dominant disorder characterized by deafness and pigmentary abnormalities such as heterochromia of irides, hypopigmented skin patches, white forlock and premature graying. Clinically the syndrome has been classified into three types. Type II differs from type I in that dystopia canthorum is generally absent, and type III has associated limb anomalies. Recently linkage analysis localized the gene for WSI to chromosome 2q. PAX-3, which is a human analogue of the murine pax-3 locus, maps to this region and mutations in this gene have been found to segregate with WSI. However genetic heterogeneity clearly exists: most if not all WSII families are unlinked to PAX-3 while most if not all WSI cases are linked. We ascertained a four-year-old female child with an interstitial deletion of chromosome 13 who had features of WS including bilateral congenital sensorineural hearing loss, pale blue irides and pinched nostrils as well as hypertelorism microcephaly, bilateral eyelid ptosis, digitalization of thumbs and fifth finger clinodactyly. High resolution chromosomal analysis revealed a de novo interstitial deletion of 13q22-33.2. There was no family history of WS or retardation. A similar deletion in the region of 13q21-32 has been described in a 13-year-old boy with features of WSII. These two cases strongly suggested that this chromosomal region may include a second locus for WS. We have identified eight families with clinical features of WS type I which have been excluded from linkage to the PAX-3 locus. We have typed these families for microsatellite markers spanning chromosome 13. Linkage between WSII and the chromosome 13 markers was excluded in these families. Hirschsprung disease has been associated with WS and it has recently been mapped to chromosome 10q11.2-q21.1. We are currently typing the 8 families for microsatellites in this region.

  2. Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus.

    Directory of Open Access Journals (Sweden)

    Derek J Le

    Full Text Available Posterior polymorphous corneal dystrophy 1 (PPCD1 is a genetic disorder that affects corneal endothelial cell function and leads to loss of visual acuity. PPCD1 has been linked to a locus on chromosome 20 in multiple families; however, Sanger sequencing of protein-coding genes in the consensus region failed to identify any causative missense mutations. In this study, custom capture probes were utilized for targeted next-generation sequencing of the linked region in a previously reported family with PPCD1. Variants were detected through two bioinformatics pipelines and filtered according to multiple criteria. Additionally, a high-resolution microarray was used to detect copy number variations. No non-synonymous variants in the protein-coding region of annotated genes were identified. However, 12 single nucleotide variants in 10 genes, and 9 indels in 7 genes met the filtering criteria and were considered candidate variants for PPCD1. Eleven single nucleotide variants were confirmed by Sanger sequencing, including 2 synonymous variants and 9 non-coding variants, in 9 genes. One microdeletion was detected in an intron of OVOL2 by microarray but was subsequently not identified by PCR. Using a comprehensive next-generation sequencing approach, a total of 16 genes containing single nucleotide variants or indels that segregated with the affected phenotype in an affected family previously mapped to the PPCD1 locus were identified. Screening of these candidate genes in other families previously mapped to the PPCD1 locus will likely result in the identification of the genetic basis of PPCD1.

  3. Genomic Analysis of the Snn1 Locus on Wheat Chromosome Arm 1BS and the Identification of Candidate Genes

    Directory of Open Access Journals (Sweden)

    Leela Reddy

    2008-07-01

    Full Text Available The pathogen produces multiple host-selective toxins (HSTs that induce cell death and necrosis in sensitive wheat ( sp. genotypes. One such HST is SnTox1, which interacts with the host gene on wheat chromosome arm 1BS to cause necrosis leading to disease susceptibility. Toward the positional cloning of , we developed saturated and high-resolution maps of the locus and evaluated colinearity of the region with rice ( L.. An F population of 120 individuals derived from ‘Chinese Spring’ (CS and the CS– chromosome 1B disomic substitution line was used to map 54 markers consisting of restriction fragment length polymorphisms (RFLPs, simple sequence repeats, and bin mapped expressed sequence tags (ESTs. Colinearity between wheat 1BS and rice was determined by aligning EST and RFLP probe sequences to the rice genome. Overall, colinearity was poorly conserved due to numerous complex chromosomal rearrangements, and of 48 wheat EST-RFLP sequences mapped, 30 had significant similarity to sequences on nine different rice chromosomes. However, 12 of the wheat sequences had similarity to sequences on rice chromosome 5 and were in a colinear arrangement with only a few exceptions, including an inversion of the markers flanking . High-resolution mapping of the locus in 8510 gametes delineated the gene to a 0.46-cM interval. Two EST-derived markers that cosegregated with were found to share homology to nucleotide binding site–leucine rich repeat–like genes and are considered potential candidates for

  4. Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs

    DEFF Research Database (Denmark)

    Seppälä, Eija H.; Koskinen, Lotta L.E.; Gulløv, Christina Hedal

    2012-01-01

    50K SNP arrays in 40 cases and 44 controls mapped the epilepsy locus on CFA37, which was replicated in an independent cohort (81 cases and 88 controls; combined p¿=¿9.70×10¿¹°, OR¿=¿3.3). Fine mapping study defined a ~1 Mb region including 12 genes of which none are known epilepsy genes or encode ion...... collected 159 cases and 148 controls and confirmed the presence of epilepsy through epilepsy questionnaires and clinical examinations. The MRI was normal while interictal EEG revealed abnormalities and variable foci in the clinically examined affected dogs. A genome-wide association study using Affymetrix...... gene conferred the highest risk for epilepsy (p¿=¿6.28×10¿¹¹, OR¿=¿7.4). ADAM23 interacts with known epilepsy proteins LGI1 and LGI2. However, our data suggests that the ADAM23 variant is a polymorphism and we have initiated a targeted re-sequencing study across the locus to identify the causative...

  5. Exploration of methods to localize DNA sequences missing from c-locus deletions

    International Nuclear Information System (INIS)

    Albritton, L.M.; Russell, L.B.; Montgomery, C.S.

    1987-01-01

    The authors have earlier characterized a large number of radiation-induced mutations at the c locus (on Chromosome 7) through genetic analysis, including extensive complementation tests. Based on this work, they have postulated that many of these mutations are deletions of various lengths, overlapping at c (the marker used in the mutation-rate experiments that generated the mutants). It was possible to apportion these deletions among 13 complementation groups and to fit them to a linear map of 8 functional units. Collectively, the deletions extend from a point between tp and c to one between sh-1 and Hbb, i.e., a genetic distance of from 6 to 10 cM, corresponding to at least 10 4 Kb of DNA. This year, the authors completed a pilot study designed to explore methods for finding DNA sequences that map to the region covered by the various c-deletions. The general plan was to probe DNA with clones derived from Chromosome-7-enriched libraries or with sequences known (or suspected) to reside in Chromosome 7. Three methods were explored for deriving the c-region-deficient DNA: (a) from mouse-hamster somatic-cell hydrids retaining a deleted mouse Chromosome 7, but no homologue; (b) from F 1 hybrids of M. musculus domesticus (carrying a c-locus deletion) by M. spretus; and (c) from F 1 hybrids of M. domesticus stocks carrying complementing deletions

  6. A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

    Science.gov (United States)

    Mendoza, Gustavo; Pemberton, Trevor J; Lee, Kwanghyuk; Scarel-Caminaga, Raquel; Mehrian-Shai, Ruty; Gonzalez-Quevedo, Catalina; Ninis, Vasiliki; Hartiala, Jaana; Allayee, Hooman; Snead, Malcolm L; Leal, Suzanne M; Line, Sergio R P; Patel, Pragna I

    2007-01-01

    Amelogenesis imperfecta (AI) is a collective term used to describe phenotypically diverse forms of defective tooth enamel development. AI has been reported to exhibit a variety of inheritance patterns, and several loci have been identified that are associated with AI. We have performed a genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI and mapped a novel locus to 8q24.3. A maximum multipoint LOD score of 7.5 was obtained at marker D8S2334 (146,101,309 bp). The disease locus lies in a 1.9 cM (2.1 Mb) region according to the Rutgers Combined Linkage-Physical map, between a VNTR marker (at 143,988,705 bp) and the telomere (146,274,826 bp). Ten candidate genes were identified based on gene ontology and microarray-facilitated gene selection using the expression of murine orthologues in dental tissue, and examined for the presence of a mutation. However, no causative mutation was identified.

  7. A novel high-resolution single locus sequence typing scheme for mixed populations of Propionibacterium acnes in vivo.

    Directory of Open Access Journals (Sweden)

    Christian F P Scholz

    Full Text Available The Gram-positive anaerobic bacterium Propionibacterium acnes is a prevalent member of the normal skin microbiota of human adults. In addition to its suspected role in acne vulgaris it is involved in a variety of opportunistic infections. Multi-locus sequence-typing (MLST schemes identified distinct phylotypes associated with health and disease. Being based on 8 to 9 house-keeping genes these MLST schemes have a high discriminatory power, but their application is time- and cost-intensive. Here we describe a single-locus sequence typing (SLST scheme for P. acnes. The target locus was identified with a genome mining approach that took advantage of the availability of representative genome sequences of all known phylotypes of P. acnes. We applied this SLST on a collection of 188 P. acnes strains and demonstrated a resolution comparable to that of existing MLST schemes. Phylogenetic analysis applied to the SLST locus resulted in clustering patterns identical to a reference tree based on core genome sequences. We further demonstrate that SLST can be applied to detect multiple phylotypes in complex microbial communities by a metagenomic pyrosequencing approach. The described SLST strategy may be applied to any bacterial species with a basically clonal population structure to achieve easy typing and mapping of multiple phylotypes in complex microbiotas. The P. acnes SLST database can be found at http://medbac.dk/slst/pacnes.

  8. [The significance of the relationship between external/internal locus of control and adolescent substance use in behavioral medicine].

    Science.gov (United States)

    Pikó, Bettina; Kovács, Eszter; Kriston, Pálma

    2011-02-27

    Prevention and treatment of the addictions are key public health priorities in modern society. In medical practice, in relation to the biochemical processes, mapping the addiction-prone personality traits, like external/internal locus of control are getting more and more attention. Individuals with high level on internal locus of control, for example, tend to take care of their health behavior; the lack of it, on the other hand, may worsen the effectiveness of stress release which may increase the likelihood of turning to substance use. The main goal of the present study was to investigate the relationship between adolescent substance use (both lifetime prevalence and the actual substance user status) and external/internal locus of control). The data collection of the questionnaire survey was going on among 656 high school students in Szeged (age range between 14-21 years, mean = 16.5 years, S.D. = 1.5 years of age, 49.1% of the sample was female). Associations between indicators of substance use (as dependent variables) and scale points of external/internal locus of control (as independent variables) were assessed using odds ratios calculated by logistic regression analyses, whereas gender was used as a controlling variable. Among boys, scale points of external, among girls, those of internal locus of control showed higher values. External locus of control increased, whereas internal locus of control decreased the risk of substance use, however, the relative role of external/internal locus of control was different according to the type of substance use and the prevalence values. In terms of smoking, lifetime prevalence, whereas in terms of marijuana use, the actual user status was influenced. In addition, while the latter one was also affected by gender, it did not play a role at all in the previous one. All these findings suggest that behavioral control may play a particularly important role in prevention of adolescent substance use. For developing this, methods

  9. EL LOCUS DE DISTRIBUCION COMO COROLARIO DEL LOCUS DE CONTROL (THE LOCUS OF DISTRIBUTION AS A COROLLARY TO THE LOCUS OF CONTROL

    Directory of Open Access Journals (Sweden)

    Mayoral Luisa

    2009-08-01

    Full Text Available Resumen: Este es un artículo científico acerca del Locus de Distribución, surgido de un estudio realizado con una población de docentes y alumnos universitarios. Respecto de los primeros, se ha indagado acerca de las atribuciones que se realizaban en torno a las recompensas y sanciones, que ellos distribuían a sus alumnos.Respecto de los segundos, se ha buscado determinar la valoración que estos realizaban de sus profesores, en términos de aquellas atribuciones. Para ello, se utilizaron dos paradigmas clásicamente empleados para verificar la existencia de una norma: el paradigma de la autopresentación (docentes, y el paradigma de los j uicios (alumnos. La cuestión planteada fue determinar si en el caso de los comportamientos distributivos de refuerzos, las causas se atribuían a variables externas -en particular a los receptores de esos refuerzos- y si esas formas de atribución eran conocidas y valoradas o no, por los alumnos. De los resultados, surgió la confirmación de nuestra hipótesis de explicaciones externas en materia de comportamientos distributivos de sanciones en el ámbito de la docencia y la valoración positiva de estas atribuciones por los alumnos.Abstract:This one is a scientific article brings over of the Locus of Distribution, arisen from a study realized with a population of teachers and university pupils. Respect of the first ones, it has been investigated brings over of the attributions that were concerning around the reinforcements which they were distributing to pupils. Respect of the second ones, one has sought to determine the valuation that these realized of the teachers, in terms of those attributions. For it, two paradigms were in use classic used to check the existence of a norm: the paradigm of the auto-presentation (teachers, and the paradigm of the judgments (pupils The raised question was to determine if in case of the distributive behaviours of reinforcements, the reasons were assuming to external

  10. Quantitative trait locus affecting birth weight on bovine chromosome 5 in a F2 Gyr x Holstein population

    Directory of Open Access Journals (Sweden)

    Gustavo Gasparin

    2005-12-01

    Full Text Available Segregation between a genetic marker and a locus influencing a quantitative trait in a well delineated population is the basis for success in mapping quantitative trait loci (QTL. To detect bovine chromosome 5 (BTA5 birth weight QTL we genotyped 294 F2 Gyr (Bos indicus x Holstein (Bos taurus crossbreed cattle for five microsatellite markers. A linkage map was constructed for the markers and an interval analysis for the presence of QTL was performed. The linkage map indicated differences in the order of two markers relative to the reference map (http://www.marc.usda.gov. Interval analysis detected a QTL controlling birth weight (p < 0.01 at 69 centimorgans (cM from the most centromeric marker with an effect of 0.32 phenotypic standard-error. These results support other studies with crossbred Bos taurus x Bos indicus populations.

  11. The Inhibitor of wax 1 locus (Iw1) prevents formation of β- and OH-β-diketones in wheat cuticular waxes and maps to a sub-cM interval on chromosome arm 2BS

    DEFF Research Database (Denmark)

    Adamski, Nikolai; Bush, Maxwell; Simmonds, James

    2013-01-01

    Glaucousness is described as the scattering effect of visible light from wax deposited on the cuticle of plant aerial organs. In wheat, two dominant genes lead to non-glaucous phenotypes: Inhibitor of wax 1 (Iw1) and Iw2. The molecular mechanisms and the exact extent (beyond visual assessment...... chromosome arm 2BS, which includes a single collinear gene from the corresponding Brachypodium and rice physical maps. The major components of flag leaf and peduncle cuticular waxes included primary alcohols, β-diketones and n-alkanes. Small amounts of C19-C27 alkyl and methylalkylresorcinols that have...

  12. Multinodular goiter treatment with radioiodine aided by recombinant human TSH in different doses: a randomized, double-blind, placebo-controlled study

    International Nuclear Information System (INIS)

    Albino, Claudio Cordeiro

    2009-01-01

    Background: There is not an optimal treatment for multinodular goiter (MNG). Surgery is the main therapeutic option because it decreases thyroid volume, reduces compression symptoms and provide histological diagnosis. Radioiodine ( 131 I) is an efficient therapeutic option for the treatment of MNG mainly when surgery is not indicated or when the patient refused it. However, high activities of 131 I are frequently required for clinically significant results. This procedure increases the body radiation exposure and the hospitalization costs. Recombinant human TSH (rh TSH) allows a reduction in the administered activity of 131 I with effective thyroid volume (TV) reduction. However, this combination therapeutic can increase collateral effects. Objective: To evaluate the efficacy and safety of low and intermediate doses of rh TSH compared to placebo, associated with a fixed activity of 131 I in MNG treatment. Patients and Methods: Thirty patients with MNG received 0.1 mg of rh TSH (group I, n=10), 0.01 mg of rh TSH (group II, n=10), or placebo (control group, n=10). After 24 hours, 30 mCi of 131 I was given to all patients. Radioactive iodine uptake (RAIU) was determined before and 24 hours after rh TSH. Before and 2, 7, 180 and 360 days after the TV was measured by magnetic resonance image (MRI). The smallest cross-sectional area of tracheal lumen (Scat) was also measured with MRI before, 2 and 7 days after treatment. Antithyroid antibodies, TSH, T3 and free T4 were assessed regularly. Results: After 6 months, the decrease in TV was more significant in groups I (30.3 +- 16.5%) and II (22.6 +- 14.5%), than in control group (5.0 +- 14.6%; p=0.01). After 12 months, TV decreased more in group I (39.2 +- 16.9%) and group II (38.8 +- 24.4%) than in group III (23.4 +- 23.59%) but it was not statistically significant (p=0.205). During the first 30 days,total T3 and free T4 increased, without reaching thyrotoxic levels and TSH decreased. After 12 months, 8 patients developed

  13. Identification of the sex-determining locus in grass puffer (Takifugu niphobles) provides evidence for sex-chromosome turnover in a subset of Takifugu species

    Science.gov (United States)

    Atsumi, Kazufumi; Kamiya, Takashi; Nozawa, Aoi; Aoki, Yuma; Tasumi, Satoshi; Koyama, Takashi; Nakamura, Osamu; Suzuki, Yuzuru

    2018-01-01

    There is increasing evidence for frequent turnover in sex chromosomes in vertebrates. Yet experimental systems suitable for tracing the detailed process of turnover are rare. In theory, homologous turnover is possible if the new sex-determining locus is established on the existing sex-chromosome. However, there is no empirical evidence for such an event. The genus Takifugu includes fugu (Takifugu rubripes) and its two closely-related species whose sex is most likely determined by a SNP at the Amhr2 locus. In these species, males are heterozygous, with G and C alleles at the SNP site, while females are homozygous for the C allele. To determine if a shift in the sex-determining locus occurred in another member of this genus, we used genetic mapping to characterize the sex-chromosome systems of Takifugu niphobles. We found that the G allele of Amhr2 is absent in T. niphobles. Nevertheless, our initial mapping suggests a linkage between the phenotypic sex and the chromosome 19, which harbors the Amhr2 locus. Subsequent high-resolution analysis using a sex-reversed fish demonstrated that the sex-determining locus maps to the proximal end of chromosome 19, far from the Amhr2 locus. Thus, it is likely that homologous turnover involving these species has occurred. The data also showed that there is a male-specific reduction of recombination around the sex-determining locus. Nevertheless, no evidence for sex-chromosome differentiation was detected: the reduced recombination depended on phenotypic sex rather than genotypic sex; no X- or Y-specific maker was obtained; the YY individual was viable. Furthermore, fine-scale mapping narrowed down the new sex-determining locus to the interval corresponding to approximately 300-kb of sequence in the fugu genome. Thus, T. niphobles is determined to have a young and small sex-determining region that is suitable for studying an early phase of sex-chromosome evolution and the mechanisms underlying turnover of sex chromosome. PMID

  14. The bovine T cell receptor alpha/delta locus contains over 400 V genes and encodes V genes without CDR2

    OpenAIRE

    Reinink, Peter; Van Rhijn, Ildiko

    2009-01-01

    ?? T cells and ?? T cells perform nonoverlapping immune functions. In mammalian species with a high percentage of very diverse ?? T cells, like ruminants and pigs, it is often assumed that ?? T cells are less diverse than ?? T cells. Based on the bovine genome, we have created a map of the bovine TRA/TRD locus and show that, in cattle, in addition to the anticipated >100 TRDV genes, there are also >300 TRAV or TRAV/DV genes. Among the V genes in the TRA/TRD locus, there are several genes that...

  15. Identification of the sex-determining locus in grass puffer (Takifugu niphobles) provides evidence for sex-chromosome turnover in a subset of Takifugu species.

    Science.gov (United States)

    Ieda, Risa; Hosoya, Sho; Tajima, Shota; Atsumi, Kazufumi; Kamiya, Takashi; Nozawa, Aoi; Aoki, Yuma; Tasumi, Satoshi; Koyama, Takashi; Nakamura, Osamu; Suzuki, Yuzuru; Kikuchi, Kiyoshi

    2018-01-01

    There is increasing evidence for frequent turnover in sex chromosomes in vertebrates. Yet experimental systems suitable for tracing the detailed process of turnover are rare. In theory, homologous turnover is possible if the new sex-determining locus is established on the existing sex-chromosome. However, there is no empirical evidence for such an event. The genus Takifugu includes fugu (Takifugu rubripes) and its two closely-related species whose sex is most likely determined by a SNP at the Amhr2 locus. In these species, males are heterozygous, with G and C alleles at the SNP site, while females are homozygous for the C allele. To determine if a shift in the sex-determining locus occurred in another member of this genus, we used genetic mapping to characterize the sex-chromosome systems of Takifugu niphobles. We found that the G allele of Amhr2 is absent in T. niphobles. Nevertheless, our initial mapping suggests a linkage between the phenotypic sex and the chromosome 19, which harbors the Amhr2 locus. Subsequent high-resolution analysis using a sex-reversed fish demonstrated that the sex-determining locus maps to the proximal end of chromosome 19, far from the Amhr2 locus. Thus, it is likely that homologous turnover involving these species has occurred. The data also showed that there is a male-specific reduction of recombination around the sex-determining locus. Nevertheless, no evidence for sex-chromosome differentiation was detected: the reduced recombination depended on phenotypic sex rather than genotypic sex; no X- or Y-specific maker was obtained; the YY individual was viable. Furthermore, fine-scale mapping narrowed down the new sex-determining locus to the interval corresponding to approximately 300-kb of sequence in the fugu genome. Thus, T. niphobles is determined to have a young and small sex-determining region that is suitable for studying an early phase of sex-chromosome evolution and the mechanisms underlying turnover of sex chromosome.

  16. Identification of the sex-determining locus in grass puffer (Takifugu niphobles provides evidence for sex-chromosome turnover in a subset of Takifugu species.

    Directory of Open Access Journals (Sweden)

    Risa Ieda

    Full Text Available There is increasing evidence for frequent turnover in sex chromosomes in vertebrates. Yet experimental systems suitable for tracing the detailed process of turnover are rare. In theory, homologous turnover is possible if the new sex-determining locus is established on the existing sex-chromosome. However, there is no empirical evidence for such an event. The genus Takifugu includes fugu (Takifugu rubripes and its two closely-related species whose sex is most likely determined by a SNP at the Amhr2 locus. In these species, males are heterozygous, with G and C alleles at the SNP site, while females are homozygous for the C allele. To determine if a shift in the sex-determining locus occurred in another member of this genus, we used genetic mapping to characterize the sex-chromosome systems of Takifugu niphobles. We found that the G allele of Amhr2 is absent in T. niphobles. Nevertheless, our initial mapping suggests a linkage between the phenotypic sex and the chromosome 19, which harbors the Amhr2 locus. Subsequent high-resolution analysis using a sex-reversed fish demonstrated that the sex-determining locus maps to the proximal end of chromosome 19, far from the Amhr2 locus. Thus, it is likely that homologous turnover involving these species has occurred. The data also showed that there is a male-specific reduction of recombination around the sex-determining locus. Nevertheless, no evidence for sex-chromosome differentiation was detected: the reduced recombination depended on phenotypic sex rather than genotypic sex; no X- or Y-specific maker was obtained; the YY individual was viable. Furthermore, fine-scale mapping narrowed down the new sex-determining locus to the interval corresponding to approximately 300-kb of sequence in the fugu genome. Thus, T. niphobles is determined to have a young and small sex-determining region that is suitable for studying an early phase of sex-chromosome evolution and the mechanisms underlying turnover of sex

  17. A microsatellite linkage map of Drosophila mojavensis

    Directory of Open Access Journals (Sweden)

    Schully Sheri

    2004-05-01

    Full Text Available Abstract Background Drosophila mojavensis has been a model system for genetic studies of ecological adaptation and speciation. However, despite its use for over half a century, no linkage map has been produced for this species or its close relatives. Results We have developed and mapped 90 microsatellites in D. mojavensis, and we present a detailed recombinational linkage map of 34 of these microsatellites. A slight excess of repetitive sequence was observed on the X-chromosome relative to the autosomes, and the linkage groups have a greater recombinational length than the homologous D. melanogaster chromosome arms. We also confirmed the conservation of Muller's elements in 23 sequences between D. melanogaster and D. mojavensis. Conclusions The microsatellite primer sequences and localizations are presented here and made available to the public. This map will facilitate future quantitative trait locus mapping studies of phenotypes involved in adaptation or reproductive isolation using this species.

  18. Autism, fever, epigenetics and the locus coeruleus.

    Science.gov (United States)

    Mehler, Mark F; Purpura, Dominick P

    2009-03-01

    Some children with autism spectrum disorders (ASD) exhibit improved behaviors and enhanced communication during febrile episodes. We hypothesize that febrigenesis and the behavioral-state changes associated with fever in autism depend upon selective normalization of key components of a functionally impaired locus coeruleus-noradrenergic (LC-NA) system. We posit that autistic behaviors result from developmental dysregulation of LC-NA system specification and neural network deployment and modulation linked to the core behavioral features of autism. Fever transiently restores the modulatory functions of the LC-NA system and ameliorates autistic behaviors. Fever-induced reversibility of autism suggests preserved functional integrity of widespread neural networks subserving the LC-NA system and specifically the subsystems involved in mediating the cognitive and behavioral repertoires compromised in ASD. Alterations of complex gene-environmental interactions and associated epigenetic mechanisms during seminal developmental critical periods are viewed as instrumental in LC-NA dysregulation as emphasized by the timing and severity of prenatal maternal stressors on autism prevalence. Our hypothesis has implications for a rational approach to further interrogate the interdisciplinary etiology of ASD and for designing novel biological detection systems and therapeutic agents that target the LC-NA system's diverse network of pre- and postsynaptic receptors, intracellular signaling pathways and dynamic epigenetic remodeling processes involved in their regulation and functional plasticity.

  19. THE LOCUS COERULEUS AND CENTRAL CHEMOSENSITIVITY

    Science.gov (United States)

    Gargaglioni, Luciane H.; Hartzler, Lynn K.; Putnam, Robert W.

    2010-01-01

    The locus coeruleus (LC) lies in the dorsal pons and supplies noradrenergic (NA) input to many regions of the brain, including respiratory control areas. The LC may provide tonic input for basal respiratory drive and is involved in central chemosensitivity since focal acidosis of the region stimulates ventilation and ablation reduces CO2-induced increased ventilation. The output of LC is modulated by both serotonergic and glutamatergic inputs. A large percentage of LC neurons are intrinsically activated by hypercapnia. This percentage and the magnitude of their response are highest in young neonates and decrease dramatically after postnatal day P10. The cellular bases for intrinsic chemosensitivity of LC neurons are comprised of multiple factors, primary among them being reduced extracellular and intracellular pH, which inhibit inwardly rectifying and voltage-gated K+ channels, and activate L-type Ca2+ channels. Activation of KCa channels in LC neurons may limit their ultimate response to hypercapnia. Finally, the LC mediates central chemosensitivity and contains pH-sensitive neurons in amphibians, suggesting that the LC has a long-standing phylogenetic role in respiratory control. PMID:20435170

  20. Genetics Ustilago violacea. XXXIII. Genetic evidence for insertional mutations in the magenta locus

    International Nuclear Information System (INIS)

    Garber, E.D.; Ruddat, M.

    1996-01-01

    Three spontaneous mutants (m-1, m-2, and m-31) with a new sporidial colony color (magenta, m) were found in the stable pink 1.A1 a-1 and 2.A2 a-2 laboratory strains. The m-1 and white (w) mutations were very closely linked (<0.1 cM); the m locus was assumed to be distal from the w locus and in the same chromosome arm. The color mutations formed a map of very closely linked (<1 cM), centromere-linked loci: orange (o)-pumpkin (p)-yellow (y)-centr-wA-wB-m. Crosses between the m-1 and m-2 mutants, between the m-2 mutant and laboratory strains with a different color, and between the m-2 mutant and strains from the herbarium/field collections gave nonsectored and sectored teliospore colonies with a nonparental color. All of the teliospores colonies from cross AV13 involving strains 1.C417* y and 2.C413 p had a nonparental color or different nonparental colors, including magenta. The UV-irradiation of m-1, m-2, and m-31 sporidia gave mostly pink (+) colonies, ranging from 9% to 48%. Occasional nonsectored w and p colonies as well as one bisectored m/+ and one w/+ colony were found. Approximately 103 m-1 sporidia were UV-irradiated, and the following colonies with a nonparental color were found: w (one), p (three), o (one), +f (one), ms (supermagenta) (one), and m/+ (one). Crosses involving the m-2 mutant and the +f, ms, p, w, and y mutants indicated that the +f and ms mutants resulted from an insertional mutation and the others from a genic mutation. Sites of element insertion were (1) most likely in the pericentric regions to give the pink phenotype, (2) less likely in the y and p loci in the same chromosome arm and in the complex w locus, and (3) least likely in the o locus in one arm and m locus in the other arm. These observations were explained by proposing the transcentric transposition of a cryptic or a transactive element in the homologous chromosome with the color mutations during meiosis and to the UV-induced transposition of an element in sporidia

  1. Identification of a stem rust resistance locus effective against Ug99 on wheat chromosome 7AL using a RAD-Seq approach.

    Science.gov (United States)

    Pujol, Vincent; Forrest, Kerrie L; Zhang, Peng; Rouse, Matthew N; Hayden, Matthew J; Huang, Li; Tabe, Linda; Lagudah, Evans

    2015-07-01

    A locus of major effect for stem rust resistance, effective against Ug99 and possibly a target of a suppressor on chromosome arm 7DL in wheat cultivar Canthatch, was mapped to 7AL. Wheat stem rust, caused by Puccinia graminis f. sp. tritici (Pgt), is responsible for major production losses around the world. The development of resistant cultivars is an effective and environmentally friendly way to manage the disease, but outbreaks can occur when new pathogen races overcome the existing host resistance genes. Ug99 (race TTKSK) and related Pgt races are virulent to the majority of existing cultivars, which presents a potential threat to global wheat production. The hexaploid wheat cultivar Canthatch has long been known to carry a suppressor of stem rust resistance on chromosome arm 7DL. Multiple "non-suppressor" mutants of Canthatch are reported to have gained resistance to Pgt races, including Ug99 (TTKSK) and related races TTKST and TTTSK. To genetically map the suppressor locus, a mapping population was developed from a cross between the susceptible cultivar Columbus, thought to possess the suppressor, and Columbus-NS766, a resistant, near-isogenic line believed to contain a mutant non-suppressor allele introgressed from Canthatch. Genetic mapping using a 9K SNP genotyping assay and restriction site-associated DNA sequencing (RAD-Seq) on bulked segregants led to the identification of markers linked to a locus of stem rust resistance. Surprisingly, genomic sequence information revealed the markers to be located on 7AL instead of 7DL, indicating that the resistance phenotype was due to a new resistance locus, rather than the inactivated suppressor. We suggest that the 7AL locus of resistance is most likely suppressed by the 7DL suppressor.

  2. Multidimensional profiles of health locus of control in Hispanic Americans.

    Science.gov (United States)

    Champagne, Brian R; Fox, Rina S; Mills, Sarah D; Sadler, Georgia Robins; Malcarne, Vanessa L

    2016-10-01

    Latent profile analysis identified health locus of control profiles among 436 Hispanic Americans who completed the Multidimensional Health Locus of Control scales. Results revealed four profiles: Internally Oriented-Weak, -Moderate, -Strong, and Externally Oriented. The profile groups were compared on sociocultural and demographic characteristics, health beliefs and behaviors, and physical and mental health outcomes. The Internally Oriented-Strong group had less cancer fatalism, religiosity, and equity health attributions, and more alcohol consumption than the other three groups; the Externally Oriented group had stronger equity health attributions and less alcohol consumption. Deriving multidimensional health locus of control profiles through latent profile analysis allows examination of the relationships of health locus of control subtypes to health variables. © The Author(s) 2015.

  3. A new strategy for estimating two-locus recombination fractions ...

    Indian Academy of Sciences (India)

    2011-08-19

    locus recombination fractions under some natural inequality restrictions. J. Genet. ... mation strategy, called restricted projection algorithm (RPA). The new ...... Differentiating equation (8) to obtain the equation. 2λj(βj − β∗.

  4. Relationship among Dimensions of Family Communication Patterns and Locus of

    Directory of Open Access Journals (Sweden)

    Mohammad Hassan Anvari

    2014-05-01

    Full Text Available Background: This study was done to examine the relationship of self-efficacy with dimensions of family communication patterns and locus of control. Materials and Methods: The population of this study was all Isfahan University students in the 2010-2011 academic years. Two hundred seventy nine students from various faculties of the university selected by cluster sampling method. In this descriptive study were used from the revised scale of dimensions of family communication patterns, locus of control questionnaire and general self-efficacy scale. Results: Results showed that the dialogue orientation, locus of control and conformity orientation have a significant correlation with self-efficacy (p<0.01. In addition dialogue orientation, locus of control and conformity orientation predicted 13%, 7%, 2% of selfefficacy, respectively. Conclusion: Dialogue orientation in family is the most important predictor of students' self-efficacy.

  5. LOCUS OF CONTROL AND JOB SATISFACTION: PSU EMPLOYEES

    Directory of Open Access Journals (Sweden)

    Lakshman Vijayashree

    2011-11-01

    Full Text Available Previous research studies have demonstrated that internal/external locus of control impacts jobsatisfaction. The present study thus aims to analyze type of locus of control and its relation with jobsatisfaction. The study will be of great help for organization to understand and know what type oflocus of control their employees has and how it has an impact on job satisfaction.The objectives of this study were: 1- To identify the type of Locus of Control (i.e. Internal orExternal present in Public Sector Units (PSU in Bangalore and 2- To analyze the impact of differenttype of Locus of Control on job satisfaction of PSU Employees. Further hypothesis was also set tocheck the relationship between locus of control and job satisfaction. In addition, the relationshipbetween different demographic factors was also examined. The tool used for this study was LocoInventory. The concept of locus of control by Levenson (1972 was used to develop Loco Inventory(Locus of Control in Organization Inventory. The survey used a questionnaire, which had thirty fivestatements which highlights the factors that determine the locus of control and job satisfaction levelof the employees. The Ratio, ANOVA, and Correlation analysis were used as statistical techniquesfor analysis.The results indicate that there is a positive correlation between internal locus of control and jobsatisfaction as well as between External (other locus of control and job satisfaction. And in case ofExternal (Chance locus of control and job satisfaction there exists partial positive correlation. As perthis study Job satisfaction level among the employees is also good as the mean is 17, which is closerto maximum scale value of 25. As per ANOVA table there is a significant variance betweeninternality and age as well as between externality (chance and age. There is no significantrelationship between internality and demographic factors like gender and education. There is nosignificant relationship between

  6. 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.

  7. Integration of linkage maps for the Amphidiploid Brassica napus and comparative mapping with Arabidopsis and Brassica rapa

    Directory of Open Access Journals (Sweden)

    Delourme Régine

    2011-02-01

    Full Text Available Abstract Background The large number of genetic linkage maps representing Brassica chromosomes constitute a potential platform for studying crop traits and genome evolution within Brassicaceae. However, the alignment of existing maps remains a major challenge. The integration of these genetic maps will enhance genetic resolution, and provide a means to navigate between sequence-tagged loci, and with contiguous genome sequences as these become available. Results We report the first genome-wide integration of Brassica maps based on an automated pipeline which involved collation of genome-wide genotype data for sequence-tagged markers scored on three extensively used amphidiploid Brassica napus (2n = 38 populations. Representative markers were selected from consolidated maps for each population, and skeleton bin maps were generated. The skeleton maps for the three populations were then combined to generate an integrated map for each LG, comparing two different approaches, one encapsulated in JoinMap and the other in MergeMap. The BnaWAIT_01_2010a integrated genetic map was generated using JoinMap, and includes 5,162 genetic markers mapped onto 2,196 loci, with a total genetic length of 1,792 cM. The map density of one locus every 0.82 cM, corresponding to 515 Kbp, increases by at least three-fold the locus and marker density within the original maps. Within the B. napus integrated map we identified 103 conserved collinearity blocks relative to Arabidopsis, including five previously unreported blocks. The BnaWAIT_01_2010a map was used to investigate the integrity and conservation of order proposed for genome sequence scaffolds generated from the constituent A genome of Brassica rapa. Conclusions Our results provide a comprehensive genetic integration of the B. napus genome from a range of sources, which we anticipate will provide valuable information for rapeseed and Canola research.

  8. [Health locus of control of patients in disease management programmes].

    Science.gov (United States)

    Schnee, M; Grikscheit, F

    2013-06-01

    Health locus of control beliefs plays a major role in improving self-management skills of the chronically ill - a main goal in disease management programmes (DMP). This study aims at characterising participants in disease management regarding their health locus of control. Data are based on 4 cross-sectional postal surveys between spring and autumn of 2006 and 2007 within the Health Care Monitor of the Bertelsmann Foundation. Among the 6 285 respondents, 1 266 are chronically ill and not enrolled in a DMP and 327 are participating in a DMP. A high internal locus of control (HLC) occurs significantly less often in DMP patients than in normal chronically ill patients (and healthy people) controlling for age, gender and social class. With increasing age, a high internal locus of control is also significantly less likely. When comparing healthy people, the chronically ill and the DMP participants a social gradient of a high internal locus of control belief can be observed. The weaker internal and higher doctor-related external locus of control of DMP participants should be carefully observed by the physician when trying to strengthen the patients' self-management skills. Evaluators of DMP should take into account the different baselines of DMP patients and relevant control groups and incorporate these differences into the evaluation. © Georg Thieme Verlag KG Stuttgart · New York.

  9. Neurolinguistic programming training, trait anxiety, and locus of control.

    Science.gov (United States)

    Konefal, J; Duncan, R C; Reese, M A

    1992-06-01

    Training in the neurolinguistic programming techniques of shifting perceptual position, visual-kinesthetic dissociation, timelines, and change-history, all based on experiential cognitive processing of remembered events, leads to an increased awareness of behavioral contingencies and a more sensitive recognition of environmental cues which could serve to lower trait anxiety and increase the sense of internal control. This study reports on within-person and between-group changes in trait anxiety and locus of control as measured on the Spielberger State-Trait Anxiety Inventory and Wallston, Wallston, and DeVallis' Multiple Health Locus of Control immediately following a 21-day residential training in neurolinguistic programming. Significant with-in-person decreases in trait-anxiety scores and increases in internal locus of control scores were observed as predicted. Chance and powerful other locus of control scores were unchanged. Significant differences were noted on trait anxiety and locus of control scores between European and U.S. participants, although change scores were similar for the two groups. These findings are consistent with the hypothesis that this training may lower trait-anxiety scores and increase internal locus of control scores. A matched control group was not available, and follow-up was unfortunately not possible.

  10. Two-locus linkage analysis in multiple sclerosis (MS)

    Energy Technology Data Exchange (ETDEWEB)

    Tienari, P.J. (National Public Health Institute, Helsinki (Finland) Univ. of Helsinki (Finland)); Terwilliger, J.D.; Ott, J. (Columbia Univ., New York (United States)); Palo, J. (Univ. of Helsinki (Finland)); Peltonen, L. (National Public Health Institute, Helsinki (Finland))

    1994-01-15

    One of the major challenges in genetic linkage analyses is the study of complex diseases. The authors demonstrate here the use of two-locus linkage analysis in multiple sclerosis (MS), a multifactorial disease with a complex mode of inheritance. In a set of Finnish multiplex families, they have previously found evidence for linkage between MS susceptibility and two independent loci, the myelin basic protein gene (MBP) on chromosome 18 and the HLA complex on chromosome 6. This set of families provides a unique opportunity to perform linkage analysis conditional on two loci contributing to the disease. In the two-trait-locus/two-marker-locus analysis, the presence of another disease locus is parametrized and the analysis more appropriately treats information from the unaffected family member than single-disease-locus analysis. As exemplified here in MS, the two-locus analysis can be a powerful method for investigating susceptibility loci in complex traits, best suited for analysis of specific candidate genes, or for situations in which preliminary evidence for linkage already exists or is suggested. 41 refs., 6 tabs.

  11. Genetic loci mapping for ear axis weight using recombinant inbred ...

    African Journals Online (AJOL)

    Ear axis weight (EAW) is one of the important agronomic traits in maize (Zea mays L.), related to yield. To understand its genetic basis, a recombinant inbred line (RIL) population, derived from the cross Mo17 × Huangzao4, was used for quantitative trait locus mapping (QTL) for EAW under high and low nitrogen (N) regimes.

  12. Psicologia e Arquitetura: em busca do locus interdisciplinar Psychology and Architecture: looking for the interdisciplinary locus

    Directory of Open Access Journals (Sweden)

    Gleice Azambuja Elali

    1997-12-01

    Full Text Available Partindo do reconhecimento da inevitável interdisciplinaridade no estudo da relação pessoa-ambiente, o artigo discute a Psicologia Ambiental enquanto locus privilegiado na interseção entre Psicologia e Arquitetura, com especial ênfase para a interrelação ambiente construído - comportamento humano. Definindo a escolha dos métodos de pesquisa como fator crucial a esta posição interdisciplinar, o texto aponta os principais métodos atualmente utilizados, facilidades de aplicação e vantagens/desvantagens dos mesmos, defendendo a propriedade do uso de multimétodos na realização de trabalhos na área.Acknowledging interdisciplinarity as an inevitable condition for the study of person-environment relationship, the article discusses Environmental Psychology as locus of intersection between Psychology and Architecture, converging upon the interrelationship human behavior - built environment. Considering that the choice of research methods is an essential element to such an approach, the text defines the main methods and techniques used in this area, their application and advantages/disadvantages, emphasizing a multi-method strategy.

  13. A Z-linked sterility locus causes sexual abstinence in hybrid females and facilitates speciation in Spodoptera frugiperda.

    Science.gov (United States)

    Kost, Silvia; Heckel, David G; Yoshido, Atsuo; Marec, František; Groot, Astrid T

    2016-06-01

    In the fall armyworm, Spodoptera frugiperda (Lepidoptera, Noctuidae), two sympatric strains have been recognized that have been termed corn strain (C) and rice strain (R), referring to their most common host plants. Both strains are reproductively isolated via a distinct prezygotic barrier as well as via an intriguing postzygotic phenomenon: when R females have mated with C males, the resulting RC hybrid females exhibit dramatically reduced fertility independent of their mating partner. Here, we demonstrate that the reduced fertility is caused by the fact that these females refrain from mating, that is, females are behaviorally sterile. We identified a Z-chromosomally linked sterility locus that is most likely incompatible with yet to be identified autosomal (or cytoplasmic) factors, leading to the observed sexual abstinence. Within-chromosome mapping revealed the sterility locus to be located in an area of strongly reduced interstrain recombination. © 2016 The Author(s). Evolution © 2016 The Society for the Study of Evolution.

  14. Regularity of optimal transport maps on multiple products of spheres

    OpenAIRE

    Figalli, Alessio; Kim, Young-Heon; McCann, Robert J.

    2010-01-01

    This article addresses regularity of optimal transport maps for cost="squared distance" on Riemannian manifolds that are products of arbitrarily many round spheres with arbitrary sizes and dimensions. Such manifolds are known to be non-negatively cross-curved [KM2]. Under boundedness and non-vanishing assumptions on the transfered source and target densities we show that optimal maps stay away from the cut-locus (where the cost exhibits singularity), and obtain injectivity and continuity of o...

  15. Somatosensory maps.

    Science.gov (United States)

    Harding-Forrester, Samuel; Feldman, Daniel E

    2018-01-01

    Somatosensory areas containing topographic maps of the body surface are a major feature of parietal cortex. In primates, parietal cortex contains four somatosensory areas, each with its own map, with the primary cutaneous map in area 3b. Rodents have at least three parietal somatosensory areas. Maps are not isomorphic to the body surface, but magnify behaviorally important skin regions, which include the hands and face in primates, and the whiskers in rodents. Within each map, intracortical circuits process tactile information, mediate spatial integration, and support active sensation. Maps may also contain fine-scale representations of touch submodalities, or direction of tactile motion. Functional representations are more overlapping than suggested by textbook depictions of map topography. The whisker map in rodent somatosensory cortex is a canonic system for studying cortical microcircuits, sensory coding, and map plasticity. Somatosensory maps are plastic throughout life in response to altered use or injury. This chapter reviews basic principles and recent findings in primate, human, and rodent somatosensory maps. Copyright © 2018 Elsevier B.V. All rights reserved.

  16. Topographic mapping

    Science.gov (United States)

    ,

    2008-01-01

    The U.S. Geological Survey (USGS) produced its first topographic map in 1879, the same year it was established. Today, more than 100 years and millions of map copies later, topographic mapping is still a central activity for the USGS. The topographic map remains an indispensable tool for government, science, industry, and leisure. Much has changed since early topographers traveled the unsettled West and carefully plotted the first USGS maps by hand. Advances in survey techniques, instrumentation, and design and printing technologies, as well as the use of aerial photography and satellite data, have dramatically improved mapping coverage, accuracy, and efficiency. Yet cartography, the art and science of mapping, may never before have undergone change more profound than today.

  17. PENGARUH LOCUS OF CONTROL INTERNAL, LOCUS OF CONTROL EKSTERNAL, MANAJEMEN WAKTU, DAN KREATIVITAS MENGAJAR TERHADAP MOTIVASI BERPRESTASI

    Directory of Open Access Journals (Sweden)

    Dita Alfitami

    2017-10-01

    Full Text Available The aims of this research were to know the influence of the internal locus of control, external locus of control, time management, and teaching creativity to achievement motivation (case study in introduction to Office Administration subject in class XI AP SMK N 1 Kendal lesson school year 2016/2017.The population in this study were all the tenth graders of the Office Administration study program at SMK Negeri 1 Kendal with the total number of 71 students. While the sample taken used was saturated samples because the population were less than 100 respondents. Data collection method used in this research, which use questionnaire. The data analysis using multiple linear regression analysis method, classic assumption test analysis, percentage descriptive analysis, and hypothesis test analysis with the help of SPSS 21 programs. The finding shows the results of multiple linear regression analysis obtained equation Y = -20,466 + 0,431 X1 + 0,301 X2 + 0,357 X3 + 0,364 X4+ e. Test of significance of regression equation with F test, obtained count = 43,846 with significance0.000 and less than 0,05. The amount of influence simultaneously or together from locus of control, external locus of control, time management, and teaching creativity to achievement motivation was71%. While influence in partial or individually for internal locus of control was 23,52%, external locus of control 12,67%, time management 22,84%, and teaching creativity 22,46%.

  18. Hybrid Sterility Locus on Chromosome X Controls Meiotic Recombination Rate in Mouse.

    Directory of Open Access Journals (Sweden)

    Maria Balcova

    2016-04-01

    Full Text Available Meiotic recombination safeguards proper segregation of homologous chromosomes into gametes, affects genetic variation within species, and contributes to meiotic chromosome recognition, pairing and synapsis. The Prdm9 gene has a dual role, it controls meiotic recombination by determining the genomic position of crossover hotspots and, in infertile hybrids of house mouse subspecies Mus m. musculus (Mmm and Mus m. domesticus (Mmd, it further functions as the major hybrid sterility gene. In the latter role Prdm9 interacts with the hybrid sterility X 2 (Hstx2 genomic locus on Chromosome X (Chr X by a still unknown mechanism. Here we investigated the meiotic recombination rate at the genome-wide level and its possible relation to hybrid sterility. Using immunofluorescence microscopy we quantified the foci of MLH1 DNA mismatch repair protein, the cytological counterparts of reciprocal crossovers, in a panel of inter-subspecific chromosome substitution strains. Two autosomes, Chr 7 and Chr 11, significantly modified the meiotic recombination rate, yet the strongest modifier, designated meiotic recombination 1, Meir1, emerged in the 4.7 Mb Hstx2 genomic locus on Chr X. The male-limited transgressive effect of Meir1 on recombination rate parallels the male-limited transgressive role of Hstx2 in hybrid male sterility. Thus, both genetic factors, the Prdm9 gene and the Hstx2/Meir1 genomic locus, indicate a link between meiotic recombination and hybrid sterility. A strong female-specific modifier of meiotic recombination rate with the effect opposite to Meir1 was localized on Chr X, distally to Meir1. Mapping Meir1 to a narrow candidate interval on Chr X is an important first step towards positional cloning of the respective gene(s responsible for variation in the global recombination rate between closely related mouse subspecies.

  19. Genetic Dissection of the Canq1 Locus Governing Variation in Extent of the Collateral Circulation

    Science.gov (United States)

    Wang, Shiliang; Zhang, Hua; Wiltshire, Tim; Sealock, Robert; Faber, James E.

    2012-01-01

    Background Native (pre-existing) collaterals are arteriole-to-arteriole anastomoses that interconnect adjacent arterial trees and serve as endogenous bypass vessels that limit tissue injury in ischemic stroke, myocardial infarction, coronary and peripheral artery disease. Their extent (number and diameter) varies widely among mouse strains and healthy humans. We previously identified a major quantitative trait locus on chromosome 7 (Canq1, LOD = 29) responsible for 37% of the heritable variation in collateral extent between C57BL/6 and BALB/c mice. We sought to identify candidate genes in Canq1 responsible for collateral variation in the cerebral pial circulation, a tissue whose strain-dependent variation is shared by similar variation in other tissues. Methods and Findings Collateral extent was intermediate in a recombinant inbred line that splits Canq1 between the C57BL/6 and BALB/c strains. Phenotyping and SNP-mapping of an expanded panel of twenty-one informative inbred strains narrowed the Canq1 locus, and genome-wide linkage analysis of a SWRxSJL-F2 cross confirmed its haplotype structure. Collateral extent, infarct volume after cerebral artery occlusion, bleeding time, and re-bleeding time did not differ in knockout mice for two vascular-related genes located in Canq1, IL4ra and Itgal. Transcript abundance of 6 out of 116 genes within the 95% confidence interval of Canq1 were differentially expressed >2-fold (p-valuecollateral formation. Conclusions These findings refine the Canq1 locus and identify several genes as high-priority candidates important in specifying native collateral formation and its wide variation. PMID:22412848

  20. Is disomic homozygosity at the APECED locus the cause of increased autoimmunity in Down's syndrome?

    Science.gov (United States)

    Shield, J.; Wadsworth, E.; Hassold, T.; Judis, L. A.; Jacobs, P.

    1999-01-01

    AIMS—To examine the age of onset of insulin dependent diabetes mellitus (IDDM) in children with Down's syndrome compared with non-trisomic individuals, and to assess whether differences might be related to disomic homozygosity at the autoimmune polyglandular disease type 1 (APECED) gene locus.
METHODS—Children with Down's syndrome and IDDM were identified through the Down's syndrome association newsletter and from paediatricians. DNA was extracted from mouthbrush preparations provided by the parents and patients using standard techniques. Mapping techniques were then used to identify areas of reduction to homozygosity, including a marker that overlaps the locus for APECED. The frequency of disomic homozygosity for all markers (n = 18) was compared with a control group of 99 patients with Down's syndrome and their parents. The families also answered a questionnaire concerning diabetes and related autoimmune conditions in the family. Details were compared with the British Paediatric Surveillance Group 1988diabetes study.
RESULTS—Children with Down's syndrome and IDDM were diagnosed significantly earlier than the general population (6.7 v 8.0 years) with a far higher proportion diagnosed in the first 2 years of life (22% v 7%). There was no evidence of increased disomic homozygosity in the region of the APECED locus in Down's syndrome patients with IDDM compared with simple Down's syndrome.
CONCLUSIONS—The natural history of IDDM in Down's syndrome is different from that of the general population. Although children with Down's syndrome have features similar to cases of APECED, disomic homozygosity in this region does not explain the predilection for autoimmune disease.

 PMID:10490523

  1. The soybean-Phytophthora resistance locus Rps1-k encompasses coiled coil-nucleotide binding-leucine rich repeat-like genes and repetitive sequences

    Directory of Open Access Journals (Sweden)

    Bhattacharyya Madan K

    2008-03-01

    Full Text Available Abstract Background A series of Rps (resistance to Pytophthora sojae genes have been protecting soybean from the root and stem rot disease caused by the Oomycete pathogen, Phytophthora sojae. Five Rps genes were mapped to the Rps1 locus located near the 28 cM map position on molecular linkage group N of the composite genetic soybean map. Among these five genes, Rps1-k was introgressed from the cultivar, Kingwa. Rps1-k has been providing stable and broad-spectrum Phytophthora resistance in the major soybean-producing regions of the United States. Rps1-k has been mapped and isolated. More than one functional Rps1-k gene was identified from the Rps1-k locus. The clustering feature at the Rps1-k locus might have facilitated the expansion of Rps1-k gene numbers and the generation of new recognition specificities. The Rps1-k region was sequenced to understand the possible evolutionary steps that shaped the generation of Phytophthora resistance genes in soybean. Results Here the analyses of sequences of three overlapping BAC clones containing the 184,111 bp Rps1-k region are reported. A shotgun sequencing strategy was applied in sequencing the BAC contig. Sequence analysis predicted a few full-length genes including two Rps1-k genes, Rps1-k-1 and Rps1-k-2. Previously reported Rps1-k-3 from this genomic region 1 was evolved through intramolecular recombination between Rps1-k-1 and Rps1-k-2 in Escherichia coli. The majority of the predicted genes are truncated and therefore most likely they are nonfunctional. A member of a highly abundant retroelement, SIRE1, was identified from the Rps1-k region. The Rps1-k region is primarily composed of repetitive sequences. Sixteen simple repeat and 63 tandem repeat sequences were identified from the locus. Conclusion These data indicate that the Rps1 locus is located in a gene-poor region. The abundance of repetitive sequences in the Rps1-k region suggested that the location of this locus is in or near a

  2. A Random-Model Approach to QTL Mapping in Multiparent Advanced Generation Intercross (MAGIC) Populations.

    Science.gov (United States)

    Wei, Julong; Xu, Shizhong

    2016-02-01

    Most standard QTL mapping procedures apply to populations derived from the cross of two parents. QTL detected from such biparental populations are rarely relevant to breeding programs because of the narrow genetic basis: only two alleles are involved per locus. To improve the generality and applicability of mapping results, QTL should be detected using populations initiated from multiple parents, such as the multiparent advanced generation intercross (MAGIC) populations. The greatest challenges of QTL mapping in MAGIC populations come from multiple founder alleles and control of the genetic background information. We developed a random-model methodology by treating the founder effects of each locus as random effects following a normal distribution with a locus-specific variance. We also fit a polygenic effect to the model to control the genetic background. To improve the statistical power for a scanned marker, we release the marker effect absorbed by the polygene back to the model. In contrast to the fixed-model approach, we estimate and test the variance of each locus and scan the entire genome one locus at a time using likelihood-ratio test statistics. Simulation studies showed that this method can increase statistical power and reduce type I error compared with composite interval mapping (CIM) and multiparent whole-genome average interval mapping (MPWGAIM). We demonstrated the method using a public Arabidopsis thaliana MAGIC population and a mouse MAGIC population. Copyright © 2016 by the Genetics Society of America.

  3. Age-related hearing loss and the ahl locus in mice

    Science.gov (United States)

    Keithley, Elizabeth M.; Canto, Cecilia; Zheng, Qing Yin; Fischel-Ghodsian, Nathan; Johnson, Kenneth R.

    2010-01-01

    C57BL/6 (B6) mice experience hearing loss and cochlear degeneration beginning about mid-life, whereas CAST/Ei (CAST) mice retain normal hearing until old age. A locus contributing to the hearing loss of B6 mice, named age-related hearing loss (ahl), was mapped to Chromosome 10. A homozygous, congenic strain of mice (B6.CAST-+ahl), generated by crossing B6 (ahl/ahl) and CAST (+ahl/+ahl) mice has the same genomic material as the B6 mice except in the region of the ahl locus, which is derived from CAST. In this study, we have determined the extent of the CAST-derived region of Chromosome 10 in the congenic strain and have examined mice of all three strains for hearing loss and cochlear morphology between 9 and 25 months of age. Results for B6 mice were similar to those described previously. CAST mice showed no detectable hearing loss even at 24 months of age; however, they had a small amount of ganglion cell degeneration. B6.CAST-+ahl mice were protected from early onset hearing loss and basal turn degeneration, but older animals did show some hearing loss and ganglion cell degeneration. We conclude that loci in addition to ahl contribute to the differences in hearing loss between B6 and CAST mice. These results illustrate the complex inheritance of age-related hearing loss in mice and may have implications for the study of human presbycusis. PMID:14759567

  4. Indirect evolution of hybrid lethality due to linkage with selected locus in Mimulus guttatus.

    Directory of Open Access Journals (Sweden)

    Kevin M Wright

    Full Text Available Most species are superbly and intricately adapted to the environments in which they live. Adaptive evolution by natural selection is the primary force shaping biological diversity. Differences between closely related species in ecologically selected characters such as habitat preference, reproductive timing, courtship behavior, or pollinator attraction may prevent interbreeding in nature, causing reproductive isolation. But does ecological adaptation cause reproductive incompatibilities such as hybrid sterility or lethality? Although several genes causing hybrid incompatibilities have been identified, there is intense debate over whether the genes that contribute to ecological adaptations also cause hybrid incompatibilities. Thirty years ago, a genetic study of local adaptation to copper mine soils in the wildflower Mimulus guttatus identified a locus that appeared to cause copper tolerance and hybrid lethality in crosses to other populations. But do copper tolerance and hybrid lethality have the same molecular genetic basis? Here we show, using high-resolution genome mapping, that copper tolerance and hybrid lethality are not caused by the same gene but are in fact separately controlled by two tightly linked loci. We further show that selection on the copper tolerance locus indirectly caused the hybrid incompatibility allele to go to high frequency in the copper mine population because of hitchhiking. Our results provide a new twist on Darwin's original supposition that hybrid incompatibilities evolve as an incidental by-product of ordinary adaptation to the environment.

  5. Inferring Demographic History Using Two-Locus Statistics.

    Science.gov (United States)

    Ragsdale, Aaron P; Gutenkunst, Ryan N

    2017-06-01

    Population demographic history may be learned from contemporary genetic variation data. Methods based on aggregating the statistics of many single loci into an allele frequency spectrum (AFS) have proven powerful, but such methods ignore potentially informative patterns of linkage disequilibrium (LD) between neighboring loci. To leverage such patterns, we developed a composite-likelihood framework for inferring demographic history from aggregated statistics of pairs of loci. Using this framework, we show that two-locus statistics are more sensitive to demographic history than single-locus statistics such as the AFS. In particular, two-locus statistics escape the notorious confounding of depth and duration of a bottleneck, and they provide a means to estimate effective population size based on the recombination rather than mutation rate. We applied our approach to a Zambian population of Drosophila melanogaster Notably, using both single- and two-locus statistics, we inferred a substantially lower ancestral effective population size than previous works and did not infer a bottleneck history. Together, our results demonstrate the broad potential for two-locus statistics to enable powerful population genetic inference. Copyright © 2017 by the Genetics Society of America.

  6. Mutation at the Human D1S80 Minisatellite Locus

    Directory of Open Access Journals (Sweden)

    Kuppareddi Balamurugan

    2012-01-01

    Full Text Available Little is known about the general biology of minisatellites. The purpose of this study is to examine repeat mutations from the D1S80 minisatellite locus by sequence analysis to elucidate the mutational process at this locus. This is a highly polymorphic minisatellite locus, located in the subtelomeric region of chromosome 1. We have analyzed 90,000 human germline transmission events and found seven (7 mutations at this locus. The D1S80 alleles of the parentage trio, the child, mother, and the alleged father were sequenced and the origin of the mutation was determined. Using American Association of Blood Banks (AABB guidelines, we found a male mutation rate of 1.04×10-4 and a female mutation rate of 5.18×10-5 with an overall mutation rate of approximately 7.77×10-5. Also, in this study, we found that the identified mutations are in close proximity to the center of the repeat array rather than at the ends of the repeat array. Several studies have examined the mutational mechanisms of the minisatellites according to infinite allele model (IAM and the one-step stepwise mutation model (SMM. In this study, we found that this locus fits into the one-step mutation model (SMM mechanism in six out of seven instances similar to STR loci.

  7. Partial deletion in the JK locus causing a Jk(null) phenotype.

    Science.gov (United States)

    Lucien, Nicole; Chiaroni, Jacques; Cartron, Jean-Pierre; Bailly, Pascal

    2002-02-01

    A new alteration of the blood group JK*A allele was identified in a Jk(null) patient from Tunisia with an allo-anti-Jk3 in her serum. Southern blot and exon mapping analyses revealed an internal deletion within the Kidd (JK) locus encompassing exons 4 and 5. Sequence analysis of the Jk transcript showed that exons 4 and 5 were missing but were replaced by a 136-base-pair (bp) intron 3 sequence located 315 bp and 179 bp upstream from exon 4. This sequence is flanked by typical donor-acceptor cryptic splice sites used in the mutant but not in the normal JK gene. Because the translation initiation codon is located in exon 4, the Jk protein is not produced.

  8. Causal mapping

    DEFF Research Database (Denmark)

    Rasmussen, Lauge Baungaard

    2006-01-01

    The lecture note explains how to use the causal mapping method as well as the theoretical framework aoosciated to the method......The lecture note explains how to use the causal mapping method as well as the theoretical framework aoosciated to the method...

  9. Collection Mapping.

    Science.gov (United States)

    Harbour, Denise

    2002-01-01

    Explains collection mapping for library media collections. Discusses purposes for creating collection maps, including helping with selection and weeding decisions, showing how the collection supports the curriculum, and making budget decisions; and methods of data collection, including evaluating a collaboratively taught unit with the classroom…

  10. CALS Mapping

    DEFF Research Database (Denmark)

    Collin, Ib; Nielsen, Povl Holm; Larsen, Michael Holm

    1998-01-01

    To enhance the industrial applications of CALS, CALS Center Danmark has developed a cost efficient and transparent assessment, CALS Mapping, to uncover the potential of CALS - primarily dedicated to small and medium sized enterprises. The idea behind CALS Mapping is that the CALS State of the ent...

  11. Lupus vulgaris occurring in a locus minoris resistentiae.

    Science.gov (United States)

    Long, Richard; Beatch, Anita; Lee, Mao-Cheng; Cheung-Lee, Melody; Wasel, Norman

    2009-01-01

    The pathogenesis of lupus vulgaris, a form of cutaneous tuberculosis, is not always clear, especially in patients who do not have coexistent extracutaneous tuberculosis and in patients with single lesions. To report a case of lupus vulgaris in a locus minoris resistentiae (a site of reduced resistance) and to use a unique set of clinical circumstances and laboratory tests to reconstruct the pathogenesis of the lesion and the response to treatment. Lupus vulgaris can occur in a locus minoris resistentiae; local trauma and possibly other factors, such as increased temperature, topical corticosteroids, and the virulence of the infecting strain, may facilitate the growth of Mycobacterium tuberculosis present at a locus minoris resistentiae as a result of a silent bacillemia.

  12. Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus

    DEFF Research Database (Denmark)

    von Kampen, Oliver; Buch, Stephan; Nothnagel, Michael

    2013-01-01

    The sterolin locus (ABCG5/ABCG8) confers susceptibility for cholesterol gallstone disease in humans. Both the responsible variant and the molecular mechanism causing an increased incidence of gallstones in these patients have as yet not been identified. Genetic mapping utilized patient samples from...... Germany (2,808 cases, 2,089 controls), Chile (680 cases, 442 controls), Denmark (366 cases, 766 controls), India (247 cases, 224 controls), and China (280 cases, 244 controls). Analysis of allelic imbalance in complementary DNA (cDNA) samples from human liver (n = 22) was performed using pyrosequencing....... Transiently transfected HEK293 cells were used for [(3) H]-cholesterol export assays, analysis of protein expression, and localization of allelic constructs. Through fine mapping in German and Chilean samples, an ∼250 kB disease-associated interval could be defined for this locus. Lack of allelic imbalance...

  13. Locus-specific view of flax domestication history.

    Science.gov (United States)

    Fu, Yong-Bi; Diederichsen, Axel; Allaby, Robin G

    2012-01-01

    Crop domestication has been inferred genetically from neutral markers and increasingly from specific domestication-associated loci. However, some crops are utilized for multiple purposes that may or may not be reflected in a single domestication-associated locus. One such example is cultivated flax (Linum usitatissimum L.), the earliest oil and fiber crop, for which domestication history remains poorly understood. Oil composition of cultivated flax and pale flax (L. bienne Mill.) indicates that the sad2 locus is a candidate domestication locus associated with increased unsaturated fatty acid production in cultivated flax. A phylogenetic analysis of the sad2 locus in 43 pale and 70 cultivated flax accessions established a complex domestication history for flax that has not been observed previously. The analysis supports an early, independent domestication of a primitive flax lineage, in which the loss of seed dispersal through capsular indehiscence was not established, but increased oil content was likely occurred. A subsequent flax domestication process occurred that probably involved multiple domestications and includes lineages that contain oil, fiber, and winter varieties. In agreement with previous studies, oil rather than fiber varieties occupy basal phylogenetic positions. The data support multiple paths of flax domestication for oil-associated traits before selection of the other domestication-associated traits of seed dispersal loss and fiber production. The sad2 locus is less revealing about the origin of winter tolerance. In this case, a single domestication-associated locus is informative about the history of domesticated forms with the associated trait while partially informative on forms less associated with the trait.

  14. The chimpanzee GH locus: composition, organization, and evolution.

    Science.gov (United States)

    Pérez-Maya, Antonio A; Rodríguez-Sánchez, Irám P; de Jong, Pieter; Wallis, Michael; Barrera-Saldaña, Hugo A

    2012-06-01

    In most mammals the growth hormone (GH) locus comprises a single gene expressed primarily in the anterior pituitary gland. However, in higher primates multiple duplications of the GH gene gave rise to a complex locus containing several genes. In man this locus comprises five genes, including GH-N (expressed in pituitary) and four genes expressed in the placenta, but in other species the number and organization of these genes vary. The situation in chimpanzee has been unclear, with suggestions of up to seven GH-like genes. We have re-examined the GH locus in chimpanzee and have deduced the complete sequence. The locus includes five genes apparently organized in a fashion similar to that in human, with two of these genes encoding GH-like proteins, and three encoding chorionic somatomammotropins/placental lactogens (CSHs/PLs). There are notable differences between the human and chimpanzee loci with regard to the expressed proteins, gene regulation, and gene conversion events. In particular, one human gene (hCSH-L) has changed substantially since the chimpanzee/human split, potentially becoming a pseudogene, while the corresponding chimpanzee gene (CSH-A1) has been conserved, giving a product almost identical to the adjacent CSH-A2. Chimpanzee appears to produce two CSHs, with potentially differing biological properties, whereas human produces a single CSH. The pattern of gene conversion in human has been quite different from that in chimpanzee. The region around the GH-N gene in chimpanzee is remarkably polymorphic, unlike the corresponding region in human. The results shed new light on the complex evolution of the GH locus in higher primates.

  15. Variability among inbred lines and RFLP mapping of sunflower isozymes

    Directory of Open Access Journals (Sweden)

    Carrera Alicia D.

    2002-01-01

    Full Text Available Eight isozyme systems were used in this study: acid phosphatase (ACP, alcohol dehydrogenase (ADH, esterase (EST, glutamate dehydrogenase (GDH, malate dehydrogenase (MDH, phosphoglucoisomerase (PGI, 6-phosphogluconate dehydrogenase (PGD, and phosphoglucomutase (PGM. The polymorphism of these enzyme systems was studied in 25 elite inbred lines. A total of 19 loci were identified, but only eight of them were polymorphic in the germplasm tested. The polymorphic index for the eight informative markers ranged from 0.08 to 0.57, with a mean value of 0.36. Five isozyme loci were mapped in F2:3 populations with existing RFLP data. Est-1, Gdh-2 and Pgi-2 were mapped to linkage groups 3, 14 and 9, respectively. As in previous reports, an ACP locus and a PGD locus were found to be linked, both located in linkage group 2 of the public sunflower map.

  16. The osteoporosis-pseudoglioma syndrome locus is on chromosome 11q

    Energy Technology Data Exchange (ETDEWEB)

    Gong, Y.; Vikkula, M.; Boon, L.M. [Harvard Medical School, Boston, MA (United States)] [and others

    1994-09-01

    The osteoporosis-pseudoglioma syndrome (OPS), is a rare autosomal recessive disorder characterized by severe osteoporosis with multiple fractures and blindness, both occurring in childhood. The precise pathogenic mechanism for OPS is unknown. Insights into its cause may be useful towards understanding the pathophysiology of more common disorders, such as senile osteoporosis, persistent hyperplasia of the primary vitreous, and retinopathy of prematurity, whose features have some similarity with OPS. As a first step in determining the cause of OPS, we have mapped the locus of the disorder to chromosome 11q. This was accomplished by assuming genetic homogeneity and by performing linkage analysis with homozygosity mapping in 18 individuals (7 patients, 5 unaffected siblings, and 7 parents) from 3 different consanguineous kindreds. Since the condition could be caused by an abnormal extracellular matrix component, we began by testing several candidate genes (e.g., COL1A1, COL1A2, Osteopontin, Osteonectin) distributed on 12 different chromosomes. We also initiated a systematic search at 20 cM intervals with highly polymorphic simple sequence tandem repeats. Linkage and homozygosity was detected with marker D11S913 (LOD score 3.8 at {theta} = 0). Additional markers are being tested to confirm this observation. The fibroblast collagenase, fibronectin-like-2 gene and rod outer segment protein-1 (ROM 1) also map to chromosome 11q and are candidate genes.

  17. RAS1, a quantitative trait locus for salt tolerance and ABA sensitivity in Arabidopsis

    KAUST Repository

    Ren, Zhonghai

    2010-03-08

    Soil salinity limits agricultural production and is a major obstacle for feeding the growing world population. We used natural genetic variation in salt tolerance among different Arabidopsis accessions to map a major quantitative trait locus (QTL) for salt tolerance and abscisic acid (ABA) sensitivity during seed germination and early seedling growth. A recombinant inbred population derived from Landsberg erecta (Ler; salt and ABA sensitive) x Shakdara (Sha; salt and ABA resistant) was used for QTL mapping. High-resolution mapping and cloning of this QTL, Response to ABA and Salt 1 (RAS1), revealed that it is an ABA- and salt stress-inducible gene and encodes a previously undescribed plant-specific protein. A premature stop codon results in a truncated RAS1 protein in Sha. Reducing the expression of RAS1 by transfer-DNA insertion in Col or RNA interference in Ler leads to decreased salt and ABA sensitivity, whereas overexpression of the Ler allele but not the Sha allele causes increased salt and ABA sensitivity. Our results suggest that RAS1 functions as a negative regulator of salt tolerance during seed germination and early seedling growth by enhancing ABA sensitivity and that its loss of function contributes to the increased salt tolerance of Sha.

  18. THE BLUE TIP OF THE STELLAR LOCUS: MEASURING REDDENING WITH THE SLOAN DIGITAL SKY SURVEY

    International Nuclear Information System (INIS)

    Schlafly, Edward F.; Finkbeiner, Douglas P.; Juric, Mario; Schlegel, David J.; Ivezic, Zeljko; Gibson, Robert R.; Knapp, Gillian R.; Weaver, Benjamin A.

    2010-01-01

    We present measurements of reddening due to dust using the colors of stars in the Sloan Digital Sky Survey (SDSS). We measure the color of main-sequence turnoff stars by finding the 'blue tip' of the stellar locus: the prominent blue edge in the distribution of stellar colors. The method is sensitive to color changes of order 18, 12, 7, and 8 mmag of reddening in the colors u - g, g - r, r - i, and i - z, respectively, in regions measuring 90' by 14'. We present maps of the blue tip colors in each of these bands over the entire SDSS footprint, including the new dusty southern Galactic cap data provided by the SDSS-III. The results disfavor the best-fit O'Donnell and Cardelli et al. reddening laws, but are described well by a Fitzpatrick reddening law with R V = 3.1. The Schlegel et al. (SFD) dust map is found to trace the dust well, but overestimates reddening by factors of 1.4, 1.0, 1.2, and 1.4 in u - g, g - r, r - i, and i - z largely due to the adopted reddening law. In select dusty regions of the sky, we find evidence for problems in the SFD temperature correction. A dust map normalization difference of 15% between the Galactic north and south sky may be due to these dust temperature errors.

  19. Nodular goiter (epidemiology and diagnostics

    Directory of Open Access Journals (Sweden)

    R A Chernikov

    2013-06-01

    Full Text Available Thyroid nodules measuring 1cm and more revealed in 27% adult inhabitants of region. Malignant tumors were diag nosed in 2.9% of them. There was increase in the number of people with nodules in the territories exposed to radioactive fallout after Chernobyl accident in comparison to the territories without such pollution – 57.3%/42.4% as well as malignant tumors among them (5.2%/2.7% Comparison of thyroid palpation and ultrasound in detection of thyroid nodules revealed that thyroid nodules of 10 mm were detected only in every 10th patient by means of pal pation: and nodules of 11–15 mm in every 4th patient, comparing to ultrasound data of the same patients’ group. Malignant tumors were detected on cytology in 2.9% of thyroid nodules less than 2 cm (30171 patients and in 1.9% of thyroid nodules larger than 2 cm (15 656 patients. At the same time the frequency of regional lymph node metas tases was significantly higher in patients with thyroid nodules larger than 2 cm (34.8%, than in patients with nod ules less than 2 cm – 18.3%. Only one malignant tumor was detected among 358 patients with autonomously func tioning nodules. Risk groups with higher rate of malignancy were patients living in the areas with Chernobyl’s fall out, and patients in whom nodules with “suspicious” sonographic features were revealed (rough edges, capsule inva sion, microcalcifications. Patients with high risk of malignant transformation should be submitted to FNAB regard less of thyroid nodule size. Biopsy is unnecessary for the patients with autonomously functioning nodules detected by scintigraphy.

  20. Goiter and Multiple Food Allergies

    Directory of Open Access Journals (Sweden)

    Stefanie Leniszewski

    2009-01-01

    Full Text Available Severe iodine deficiency results in impaired thyroid hormone synthesis and thyroid enlargement. In the United States, adequate iodine intake is a concern for women of childbearing age and pregnant women. Beyond this high risk group iodine deficiency is not considered to be a significant problem. This case report describes a 12-year-old male with severe iodine deficiency disorder (IDD resulting from restricted dietary intake due to multiple food allergies. We describe iodine replacement for this patient and continued monitoring for iodine sufficiency. Children with multiple food allergies, in particular those with restrictions to iodized salt and seafood, should be considered high risk for severe iodine deficiency.

  1. Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor-Positive, Lower Grade Breast Cancer

    DEFF Research Database (Denmark)

    Milne, Roger L; Goode, Ellen L; García-Closas, Montserrat

    2011-01-01

    Consortium. METHODS: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness......; P(trend) = 5 × 10(-7)]. CONCLUSION: 5p12 is a breast cancer susceptibility locus for PR-positive, lower grade breast cancer. Impact: Multicenter fine-mapping studies of this region are needed as a first step to identifying the causal variant or variants. Cancer Epidemiol Biomarkers Prev; 20...

  2. Correlacional study among locus of control and human values

    OpenAIRE

    Saulo Santos Menezes Almeida

    2008-01-01

    O presente estudo teve como objetivo central analisar as relações entre locus de controle e valores. Participaram 355 universitários de Sergipe, a maioria do sexo feminino (62,8%) e solteiros (80%), com média de idade de 25,68 anos (amplitude de 17 a 56 anos). Os estudantes responderam à escala de locus de controle de Reyes e a escala de valores de Schwartz. Os resultados indicaram ser os instrumentos aptos a mensurar o proposto pelo objetivo, apresentando índices psicométricos satisfatórios....

  3. Discovery of a seventh Rpp soybean rust resistance locus in soybean accession PI 605823.

    Science.gov (United States)

    Childs, Silas P; King, Zachary R; Walker, David R; Harris, Donna K; Pedley, Kerry F; Buck, James W; Boerma, H Roger; Li, Zenglu

    2018-01-01

    A novel Rpp gene from PI 605823 for resistance to Phakopsora pachyrhizi was mapped on chromosome 19. Soybean rust, caused by the obligate biotrophic fungal pathogen Phakopsora pachyrhizi Syd. & P. Syd, is a disease threat to soybean production in regions of the world with mild winters. Host plant resistance conditioned by resistance to P. pachyrhizi (Rpp) genes has been found in numerous soybean accessions, and at least 10 Rpp genes or alleles have been mapped to six genetic loci. Identifying additional disease-resistance genes will facilitate development of soybean cultivars with durable resistance. PI 605823, a plant introduction from Vietnam, was previously identified as resistant to US populations of P. pachyrhizi in greenhouse and field trials. In this study, bulked segregant analysis using an F 2 population derived from 'Williams 82' × PI 605823 identified a genomic region associated with resistance to P. pachyrhizi isolate GA12, which had been collected in the US State of Georgia in 2012. To further map the resistance locus, linkage mapping was carried out using single-nucleotide polymorphism markers and phenotypic data from greenhouse assays with an F 2:3 population derived from Williams 82 × PI 605823 and an F 4:5 population derived from '5601T' × PI 605823. A novel resistance gene, Rpp7, was mapped to a 154-kb interval (Gm19: 39,462,291-39,616,643 Glyma.Wm82.a2) on chromosome 19 that is different from the genomic locations of any previously reported Rpp genes. This new gene could be incorporated into elite breeding lines to help provide more durable resistance to soybean rust.

  4. Homothallic switching of yeast mating type cassettes is initiated by a double-stranded cut in the MAT locus.

    Science.gov (United States)

    Strathern, J N; Klar, A J; Hicks, J B; Abraham, J A; Ivy, J M; Nasmyth, K A; McGill, C

    1982-11-01

    A double-stranded DNA cut has been observed in the mating type (MAT) locus of the yeast Saccharomyces cerevisiae in cultures undergoing homothallic cassette switching. Cutting is observed in exponentially growing cells of genotype HO HML alpha MAT alpha HMR alpha or HO HMLa MATa HMRa, which switch continuously, but not in a/alpha HO/HO diploid strains, in which homothallic switching is known to be shut off. Stationary phase cultures do not exhibit the cut. Although this site-specific cut occurs in a sequence (Z1) common to the silent HML and HMR cassettes and to MAT, only the Z1 sequence at the MAT locus is cut. The cut at MAT occurs in the absence of the HML and HMR donor cassettes, suggesting that cutting initiates the switching process. An assay for switching on hybrid plasmids containing mata- cassettes has been devised, and deletion mapping has shown that the cut site is required for efficient switching. Thus a double-stranded cut at the MAT locus appears to initiate cassette transposition-substitution and defines MAT as the recipient in this process.

  5. Cortical Maps.

    Science.gov (United States)

    Bednar, James A; Wilson, Stuart P

    2016-12-01

    In this article, we review functional organization in sensory cortical regions-how the cortex represents the world. We consider four interrelated aspects of cortical organization: (1) the set of receptive fields of individual cortical sensory neurons, (2) how lateral interaction between cortical neurons reflects the similarity of their receptive fields, (3) the spatial distribution of receptive-field properties across the horizontal extent of the cortical tissue, and (4) how the spatial distributions of different receptive-field properties interact with one another. We show how these data are generally well explained by the theory of input-driven self-organization, with a family of computational models of cortical maps offering a parsimonious account for a wide range of map-related phenomena. We then discuss important challenges to this explanation, with respect to the maps present at birth, maps present under activity blockade, the limits of adult plasticity, and the lack of some maps in rodents. Because there is not at present another credible general theory for cortical map development, we conclude by proposing key experiments to help uncover other mechanisms that might also be operating during map development. © The Author(s) 2015.

  6. Zea mays (L. P1 locus for cob glume color identified as a post-domestication selection target with an effect on temperate maize genomes

    Directory of Open Access Journals (Sweden)

    Chuanxiao Xie

    2013-10-01

    Full Text Available Artificial selection during domestication and post-domestication improvement results in loss of genetic diversity near target loci. However, the genetic locus associated with cob glume color and the nature of the genomic pattern surrounding it was elusive and the selection effect in that region was not clear. An association mapping panel consisting of 283 diverse modern temperate maize elite lines was genotyped by a chip containing over 55,000 evenly distributed SNPs. Ten-fold resequencing at the target region on 40 of the panel lines and 47 tropical lines was also undertaken. A genome-wide association study (GWAS for cob glume color confirmed the P1 locus, which is located on the short arm of chromosome 1, with a − log10P value for surrounding SNPs higher than the Bonferroni threshold (α/n, α < 0.001 when a mixed linear model (MLM was implemented. A total of 26 markers were identified in a 0.78 Mb region surrounding the P1 locus, including 0.73 Mb and 0.05 Mb upstream and downstream of the P1 gene, respectively. A clear linkage disequilibrium (LD block was found and LD decayed very rapidly with increasing physical distance surrounding the P1 locus. The estimates of π and Tajima's D were significantly (P < 0.001 lower at both ends compared to the locus. Upon comparison of temperate and tropical lines at much finer resolution by resequencing (180-fold finer than chip SNPs, a more structured LD block pattern was found among the 40 resequenced temperate lines. All evidence indicates that the P1 locus in temperate maize has not undergone neutral evolution but has been subjected to artificial selection during post-domestication selection or improvement. The information and analytical results generated in this study provide insights as to how breeding efforts have affected genome evolution in crop plants.

  7. Accelerating effect of an MRL gene locus on the severity and onset of arthropathy in DBA/1 mice.

    Science.gov (United States)

    Oishi, Hisashi; Miyazaki, Tatsuhiko; Mizuki, Shinichi; Kamogawa, Junji; Lu, Ling-Min; Tsubaki, Takahito; Arita, Norimasa; Ono, Masao; Yamamoto, Haruyasu; Nose, Masato

    2005-03-01

    To analyze the influence of the genetic background of an arthritis-prone strain of mice, MRL, on the spontaneous development of arthropathy in DBA/1 mice, which histopathologically resembles enthesopathy in humans, and to clarify the strain-specific gene loci and their interactions that confer susceptibility to arthropathy. MRL, DBA/1, (MRL x DBA/1)F(1), and (MRL x DBA/1)F(2) intercross mice were prepared, and the severity and onset of arthropathy of the ankle joints in individual mice were quantified (0-3 and 0-5 scale, respectively). A genome-wide scan of 271 male F(2) intercross mice with polymorphic microsatellite markers was performed. Only male DBA/1, (MRL x DBA/1)F(1), and (MRL x DBA/1)F(2) mice developed arthropathy. The macroscopic and histopathologic findings of arthropathy in the F(2) mice were similar to those in the parental DBA/1 mice, but the onset was significantly earlier. In the quantitative trait locus analysis of male F(2) mice, 1 susceptibility locus for both the severity and early onset of the disease in the region of an MRL allele, Amd1, was located at marker D10Mit259 (map position 40.0 cM), which was common to 1 of the sialadenitis susceptibility loci in MRL mice, Asm1. Another susceptibility locus for the severity and early onset of arthropathy in the region of a DBA allele, Amd2, was located at D3Mit46 (29.5 cM). These loci manifested an additive effect on the development of arthropathy. Arthropathy in DBA/1 mice is under the control of an allelic combination of gene loci, one of which is common to the locus for sialadenitis in MRL/MpJ-lpr/lpr mice.

  8. Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

    Science.gov (United States)

    Gherardi, Samuele; Bovolenta, Matteo; Passarelli, Chiara; Falzarano, Maria Sofia; Pigini, Paolo; Scotton, Chiara; Neri, Marcella; Armaroli, Annarita; Osman, Hana; Selvatici, Rita; Gualandi, Francesca; Recchia, Alessandra; Mora, Marina; Bernasconi, Pia; Maggi, Lorenzo; Morandi, Lucia; Ferlini, Alessandra; Perini, Giovanni

    2017-11-01

    The dystrophin gene (DMD) is the largest gene in the human genome, mapping on the Xp21 chromosome locus. It spans 2.2Mb and accounts for approximately 0,1% of the entire human genome. Mutations in this gene cause Duchenne and Becker Muscular Dystrophy, X-linked Dilated Cardiomyopathy, and other milder muscle phenotypes. Beside the remarkable number of reports describing dystrophin gene expression and the pathogenic consequences of the gene mutations in dystrophinopathies, the full scenario of the DMD transcription dynamics remains however, poorly understood. Considering that the full transcription of the DMD gene requires about 16h, we have investigated the activity of RNA Polymerase II along the entire DMD locus within the context of specific chromatin modifications using a variety of chromatin-based techniques. Our results unveil a surprisingly powerful processivity of the RNA polymerase II along the entire 2.2Mb of the DMD locus with just one site of pausing around intron 52. We also discovered epigenetic marks highlighting the existence of four novel cis‑DNA elements, two of which, located within intron 34 and exon 45, appear to govern the architecture of the DMD chromatin with implications on the expression levels of the muscle dystrophin mRNA. Overall, our findings provide a global view on how the entire DMD locus is dynamically transcribed by the RNA pol II and shed light on the mechanisms involved in dystrophin gene expression control, which can positively impact on the optimization of the novel ongoing therapeutic strategies for dystrophinopathies. Copyright © 2017. Published by Elsevier B.V.

  9. Genetic Mapping

    Science.gov (United States)

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic ... genetic mapping? Among the main goals of the Human Genome Project (HGP) was to develop new, better and cheaper ...

  10. Affective Maps

    DEFF Research Database (Denmark)

    Salovaara-Moring, Inka

    . In particular, mapping environmental damage, endangered species, and human made disasters has become one of the focal point of affective knowledge production. These ‘more-than-humangeographies’ practices include notions of species, space and territory, and movement towards a new political ecology. This type...... of digital cartographies has been highlighted as the ‘processual turn’ in critical cartography, whereas in related computational journalism it can be seen as an interactive and iterative process of mapping complex and fragile ecological developments. This paper looks at computer-assisted cartography as part...... of environmental knowledge production. It uses InfoAmazonia, the databased platform on Amazon rainforests, as an example of affective geo-visualization within information mapping that enhances embodiment in the experience of the information. Amazonia is defined as a digitally created affective (map)space within...

  11. Locus of control and investment in risky assets

    NARCIS (Netherlands)

    Salamanca Acosta, Nicolas; de Grip, A.; Fouarge, Didier; Montizaan, Raymond

    2016-01-01

    We show that household heads with a strong internal economic locus of control are more likely to hold equity and hold a larger share of equity in their investment portfolio. This relation holds when we control for economic preferences and possible confounders such as financial literacy,

  12. The Influence of Locus of Control on Student Financial Behavior

    Science.gov (United States)

    Britt, Sonya; Cumbie, Julie A.; Bell, Mary M.

    2013-01-01

    Data on psychological influences of financial behaviors has not been well addressed in student populations, which is concerning given the high levels of general and financial stress experienced by college students. The findings of this study indicate that college students with an external locus of control exhibit the worst financial behaviors.…

  13. Dealing with Malfunction: Locus of Control in Web-Conferencing

    Science.gov (United States)

    Klebl, Michael

    2014-01-01

    This paper considers how students deal with malfunctions that occur during the use of web conferencing systems in learning arrangements. In a survey among participants in online courses that make use of a web-conferencing system (N = 129), the relationship between a preference for internal or external locus of control and the perception of…

  14. Influences of peer relations and locus of control on students ...

    African Journals Online (AJOL)

    Effort to checkmate extravagance and maximize gain is the focus of all organizations more in this period of global financial crisis. There is need therefore to checkmate unnecessary financial spending. This study examines the influence of the variables, peer relations and locus of control, on such spending among University ...

  15. Exploring Learner Autonomy: Language Learning Locus of Control in Multilinguals

    Science.gov (United States)

    Peek, Ron

    2016-01-01

    By using data from an online language learning beliefs survey (n?=?841), defining language learning experience in terms of participants' multilingualism, and using a domain-specific language learning locus of control (LLLOC) instrument, this article examines whether more experienced language learners can also be seen as more autonomous language…

  16. DNA marker mining of ILSTS035 microsatellite locus on ...

    Indian Academy of Sciences (India)

    Unknown

    We describe tests for detecting and locating quantitative trait loci (QTL) for traits in Hanwoo cattle. From results of a permutation test to detect QTL for marbling, we selected the microsatellite locus ILSTS035 on chromosome 6 for further analysis. K-means clustering analysis applied to five traits and nine DNA markers in ...

  17. automatic generation of root locus plots for linear time invariant

    African Journals Online (AJOL)

    user

    Design and analysis of control systems often become difficult due to the complexity of the system model and the design ... theory, it has equally been applied to classical .... open loop poles. Available algorithms for sketching this root locus can be categorized as follows: i. Direct Methods: These are the algorithms in which.

  18. Strengthening Locus Standi in Human Rights Litigation in Zimbabwe ...

    African Journals Online (AJOL)

    MJM Venter

    2016-05-30

    May 30, 2016 ... Declaration of Rights, its enforcement mechanisms, particularly those relating to locus standi (legal standing), posed a great challenge to human rights litigation in Zimbabwe. This is so because the Lancaster House Constitution adopted the traditional common law approach to standing. Under this.

  19. The Influence of Labor Market Discrimination on Locus of Control.

    Science.gov (United States)

    Becker, Brian E.; Krzystofiak, Frank J.

    1982-01-01

    Drawing on a national probability sample (N=2,857) of young men, used multiple regression analysis to estimate the effect of labor market discrimination on subsequent locus of control. Results indicated that perceptions of employment discrimination influenced the level of externality among Blacks, over and above racial identification. (Author/RC)

  20. New distal marker closely linked to the fragile X locus

    NARCIS (Netherlands)

    T. Hulsebos (Theo); B.A. Oostra (Ben); A. Broersen (Alexander); A. Smits; B.A. van Oost (B.); A. Westerveld (Andries)

    1991-01-01

    textabstractWe have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466. Using somatic cell hybrids containing distinct portions of the long arm of the X chromosome, we could localize DXS466 between

  1. Gender, Age and Locus of Control as Correlates of Remedial ...

    African Journals Online (AJOL)

    The study sought to explain remedial learners' attitude towards English language using three variables: gender, age and locus of control. Three properly validated instruments were used to collect data on the relevant variables from 385 remedial English learners randomly selected from 5 remedial education centers in ...

  2. Relationship Among Locus of Control, Self-concept, and Anxiety

    Science.gov (United States)

    Donovan, Dennis M.; And Others

    1975-01-01

    The purpose of the present research was to replicate O'Leary, et al.'s previous findings (EJ 100 528) and to test the hypothesis that the correlation between Rotter's Locus of Control scale and the Taylor Manifest Anxiety scale was moderated by neuroticism and negativism toward self. (Author/RK)

  3. Academic Anxiety, Locus of Control, and Achievement in Medical School.

    Science.gov (United States)

    Grover, Paul L.; Smith, Douglas U.

    1981-01-01

    Relationships among prior achievement, academic anxiety, locus of control, and performance in the first year of medical school were examined. Academic anxiety was found to be significantly related to first-year performance and when combined with a measure of prior achievement, resulted in a significant increase in prediction. (Author/MLW)

  4. Locus of Control-Levels of Death Anxiety Relationships.

    Science.gov (United States)

    Hayslip, Bert, Jr.; Stewart-Bussey, Duke

    1987-01-01

    Correlational analysis suggested interactions among aspects of locus of control and aspects of death fear varying along the death/dying, self/other, and overt/covert continua. These data enable a more complete understanding of the role that perceived controllability of life events play in determining individual reactions to one's own or another's…

  5. Analysis of the ABCA4 genomic locus in Stargardt disease

    DEFF Research Database (Denmark)

    Zernant, Jana; Xie, Yajing Angela; Ayuso, Carmen

    2014-01-01

    was designed to find the missing disease-causing ABCA4 variation by a combination of next-generation sequencing (NGS), array-Comparative Genome Hybridization (aCGH) screening, familial segregation and in silico analyses. The entire 140 kb ABCA4 genomic locus was sequenced in 114 STGD patients with one known...

  6. Locus of Control and Technology Adoption in Developing Country Agriculture

    DEFF Research Database (Denmark)

    Abay, Kibrom Araya; Blalock, Garrick; Berhane, Guush

    2017-01-01

    and psychological explanations for the low rates of adoption of profitable agricultural technologies in Sub-Saharan Africa. Our results highlight that improving farmers’ non-cognitive skills (locus of control) may facilitate technology adoption and agricultural transformation. More generally, the results suggest...

  7. New distal marker closely linked to the fragile X locus

    NARCIS (Netherlands)

    Hulsebos, T. J.; Oostra, B. A.; Broersen, S.; Smits, A.; van Oost, B. A.; Westerveld, A.

    1991-01-01

    We have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466. Using somatic cell hybrids containing distinct portions of the long arm of the X chromosome, we could localize DXS466 between DXS296 and

  8. Relationship between internet addiction and academic locus of ...

    African Journals Online (AJOL)

    The study identified the various internet activities engaged in by students in a Nigerian University and examined the relationship between internet addiction and their academic locus of control. The sample was made of 250 students selected from a University in Nigeria. An instrument tagged “Questionnaire on Students' ...

  9. Emotional Intelligence, Locus of Control and Conflict Handling Skills ...

    African Journals Online (AJOL)

    This study examined Emotional Intelligence, Locus of control and Conflict Handling Skills as Predictors of non-violent behaviours among University Students in South-Western Nigeria. The population was all the Nigerian University Students in the South-Western Nigerian out of which a sample of 1,000 participants were ...

  10. multidimensional health locus of control scales: applicability among

    African Journals Online (AJOL)

    2002-03-03

    Mar 3, 2002 ... Background: Primary preventive approaches are likely to be more effective if the motivational factors of health ... among the mostimportant motivational factors, commonly assessed with the multidimensional health locus of control scale ... assessing one internal and one external dimension. The MHLC scale ...

  11. Screening for genomic rearrangements at BRCA1 locus in Iranian ...

    Indian Academy of Sciences (India)

    2016-08-26

    Aug 26, 2016 ... Home; Journals; Journal of Genetics; Volume 92; Issue 1. Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification. Vahid R. Yassaee Babak Emamalizadeh Mir Davood Omrani. Research Note Volume 92 Issue 1 ...

  12. Social support, locus of control, and psychological well-being

    NARCIS (Netherlands)

    van der Zee, KI; Buunk, BP; Sanderman, R

    1997-01-01

    Social support seems to be positively related to psychological well-being. Studies have shown that individual differences exist in the ability to mobilize and use sources of support. The current study focused on locus of control as a personality factor that might be related to this ability, In 2

  13. Alexandrov's Isodiametric Conjecture and the Cut Locus of a Surface

    Czech Academy of Sciences Publication Activity Database

    Freitas, P.; Krejčiřík, David

    2015-01-01

    Roč. 67, č. 3 (2015), s. 405-417 ISSN 0040-8735 R&D Projects: GA ČR GAP203/11/0701 Institutional support: RVO:61389005 Keywords : Alexantrov's conjecture * convex surface s * ellipsoids * cut locus * symmetrization Subject RIV: BE - Theoretical Physics Impact factor: 0.359, year: 2015

  14. Locus of control and learning strategies as predictors of academic ...

    African Journals Online (AJOL)

    The aim of the research was to determine the relationships which exist between academic success, learning strategies and locus of control. In order to achieve this aim a small-scale quantitative study, utilising two inventories, was done. The first measuring instrument is the Learning and Study Strategies Inventory, which is ...

  15. Relationship Among Achievement Motivation, Self-Esteem, Locus of ...

    African Journals Online (AJOL)

    The thrust of the study was to examine the relationship among achievement motivation, self-esteem, locus of control and academic performance of university students in a Nigerian University. The purpose was to determine the extent university student\\'s academic performance was influenced by these criterion variables.

  16. Influence of Locus Control on Real and Perceived Relationships ...

    African Journals Online (AJOL)

    They included the Nowicki-Strickland Internal – External Locus of Control Scale for children by Nowicki and Strickland (1973) and Emotional – Social Loneliness Inventory by Vincenzi and Grabosky, (1987). A cross sectional survey design was used while regression analysis and multivariate statistics were used in data ...

  17. The Locus of the Focus of a Rolling Parabola

    Science.gov (United States)

    Agarwal, Anurag; Marengo, James

    2010-01-01

    The catenary is usually introduced as the shape assumed by a hanging flexible cable. This is a "physical" description of a catenary. In this article we give a "geometrical" description of a catenary. Specifically we show that the catenary is the locus of the focus of a certain parabola as it rolls on the x-axis.

  18. Emotional intelligence and locus of control of adult patients with ...

    African Journals Online (AJOL)

    Background: This article investigates emotional intelligence and locus of control in an adult breast cancer population receiving treatment. Gaining insight into these constructs will contribute to improving breast cancer patients' psychological well-being and to reducing physical vulnerability to disease before and during ...

  19. Inferring relationships between pairs of individuals from locus heterozygosities

    Directory of Open Access Journals (Sweden)

    Spinetti Isabella

    2002-11-01

    Full Text Available Abstract Background The traditional exact method for inferring relationships between individuals from genetic data is not easily applicable in all situations that may be encountered in several fields of applied genetics. This study describes an approach that gives affordable results and is easily applicable; it is based on the probabilities that two individuals share 0, 1 or both alleles at a locus identical by state. Results We show that these probabilities (zi depend on locus heterozygosity (H, and are scarcely affected by variation of the distribution of allele frequencies. This allows us to obtain empirical curves relating zi's to H for a series of common relationships, so that the likelihood ratio of a pair of relationships between any two individuals, given their genotypes at a locus, is a function of a single parameter, H. Application to large samples of mother-child and full-sib pairs shows that the statistical power of this method to infer the correct relationship is not much lower than the exact method. Analysis of a large database of STR data proves that locus heterozygosity does not vary significantly among Caucasian populations, apart from special cases, so that the likelihood ratio of the more common relationships between pairs of individuals may be obtained by looking at tabulated zi values. Conclusions A simple method is provided, which may be used by any scientist with the help of a calculator or a spreadsheet to compute the likelihood ratios of common alternative relationships between pairs of individuals.

  20. Evolutionary process of a tetranucleotide microsatellite locus in ...

    Indian Academy of Sciences (India)

    2011-08-19

    Aug 19, 2011 ... Abstract. The evolutionary dynamics of the tetra-nucleotide microsatellite locus Spl-106 were investigated at the repeat and flanking sequences in 137 individuals of 15 Acipenseriform species, giving 93 homologous sequences, which were detected in 11 out of 15 species. Twenty-three haplotypes of ...

  1. AUTOMATIC GENERATION OF ROOT LOCUS PLOTS FOR LINEAR ...

    African Journals Online (AJOL)

    Design and analysis of control systems often become difficult due to the complexity of the system model and the design techniques involved. This paper presents the development of a Tools Box in Microsoft Excel for control engineer that uses root locus as a time domain technique for system design and analysis. The Tool ...

  2. Demographic Determinants of Locus of Control among Medical ...

    African Journals Online (AJOL)

    The Levenson Multidimensional Locus of Control Inventory and a Socio - demographic data collection sheet were used to collect data from 262 (183 males and 79 females) students selected through convenience sampling. Data were th analyzed using the 16th version of the SPPS. Percentages, means, t-test and ANOVA ...

  3. DNA marker mining of ILSTS035 microsatellite locus on ...

    Indian Academy of Sciences (India)

    We describe tests for detecting and locating quantitative trait loci (QTL) for traits in Hanwoo cattle. From results of a permutation test to detect QTL for marbling, we selected the microsatellite locus ILSTS035 on chromosome 6 for further analysis. -means clustering analysis applied to five traits and nine DNA markers in ...

  4. Influence of organisational climate and locus of control on job ...

    African Journals Online (AJOL)

    This study examined the influence of perceived organisational climate and locus of control on job satisfaction and turnover intentions of commercial bank workers in Benin, Edo State, Nigeria. To determine this, a 2X2 ANOVA was used to analyse the data. Results from a field study of 200 employees of 25 commercial banks ...

  5. Job Satisfaction and Locus of Control in an Academic Setting

    Science.gov (United States)

    Stachowiak, Bonni J.

    2010-01-01

    This study explored any relationships that existed between faculty members' locus of control and job satisfaction at a small, private, faith-based university. Two demographic variables were also analyzed in the findings: number of years teaching in higher education and tenure status. The job satisfaction instrument used was the Job in General…

  6. Sam Karlin and multi-locus population genetics.

    Science.gov (United States)

    Feldman, Marcus W

    2009-06-01

    Between 1967 and 1982, Sam Karlin made fundamental contributions to many areas of deterministic population genetic theory. This remembrance focuses on his work in multi-locus population genetics, primarily on the interaction between genotypic selection and the rate of recombination.

  7. Computer-aided root -locus numerical technique | Zubair | Nigerian ...

    African Journals Online (AJOL)

    ... which were analyzed, simplified and coded into computer programs. The geometric properties of the root-loci obtained with this technique are found to conform to those root described in the literature. Root-loci are drawn to scale instead of rough sketches. Keywords: control system, stability, transient response, root-locus, ...

  8. Determination of the yield locus by means of temperature measurement

    NARCIS (Netherlands)

    Banabic, D.; Huetink, Han

    2006-01-01

    The paper presents a theoretical background of the thermo-graphical method of determining the yield locus. The analytical expression of the temperature variation of the specimen deformed in the elastic state is determined starting from the first law of thermodynamics. The experimental method for

  9. Male-pattern baldness susceptibility locus at 20p11.

    NARCIS (Netherlands)

    Richards, J.B.; Yuan, X.; Geller, F.; Waterworth, D.; Bataille, V.; Glass, D.; Song, K.; Waeber, G.; Vollenweider, P.; Aben, K.K.H.; Kiemeney, L.A.L.M.; Walters, B.; Soranzo, N.; Thorsteinsdottir, U.; Kong, A.; Rafnar, T.; Deloukas, P.; Sulem, P.; Stefansson, H.; Stefansson, K.; Spector, T.D.; Mooser, V.

    2008-01-01

    We conducted a genome-wide association study for androgenic alopecia in 1,125 men and identified a newly associated locus at chromosome 20p11.22, confirmed in three independent cohorts (n = 1,650; OR = 1.60, P = 1.1 x 10(-14) for rs1160312). The one man in seven who harbors risk alleles at both

  10. [Relationship between work locus of control and occupational stress in oil workers].

    Science.gov (United States)

    Meng, Xian-Hai; He, Ya-Hui; Yu, Shan-Fa; Qi, Xiu-Ying

    2008-12-01

    To investigate general states of the work locus of control and explore the relationship between work locus of control and occupational stress in oil workers. 582 oil workers were investigated by using the General Questionnaire and Occupational Stress Measure Inventory. There were significant differences in WCLS score between two age groups (= 30 years old group and locus of control; values of role ambiguity, working prospect, depression and social support were higher in the group of external locus of control (P locus of control had positive relation with role ambiguity, working prospect, depression, and social support, and negative with interpersonal relationship, promotion, participation, task consistency, challenge, job satisfaction, mental health, self-esteem and coping strategies. In the regression analysis, work locus of control was the major predictive factor of work satisfaction. Work locus of control is associated with many occupational stress factors. The group of extrinsic work locus of control experience more stress in oil workers.

  11. DMPD: The Lps locus: genetic regulation of host responses to bacteriallipopolysaccharide. [Dynamic Macrophage Pathway CSML Database

    Lifescience Database Archive (English)

    Full Text Available 10669111 The Lps locus: genetic regulation of host responses to bacteriallipopolysaccharide. Qur...e The Lps locus: genetic regulation of host responses to bacteriallipopolysaccharide. Authors Qur

  12. A 1. 5-megabase yeast artificial chromosome contig from human chromosome 10q11. 2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus

    Energy Technology Data Exchange (ETDEWEB)

    Lairmore, T.C.; Dou, S.; Howe, J.R.; Chi, D.; Carlson, K.; Veile, R.; Mishra, S.K.; Wells, S.A. Jr.; Donis-Keller, H. (Washington Univ. School of Medicine, St. Louis, MO (United States))

    1993-01-15

    The genetic loci RET, D10S94, and D10S102 from human chromosome 10q11.2 are very closely linked to a locus responsible for the multiple endocrine neoplasia type 2 (MEN2A and MEN2B) and medullary thyroid carcinoma (MTC1) familial cancer syndromes. We have constructed a 1.5-megabase contig consisting of six genomic yeast artificial chromosome clones which include these loci and define their physical order. A critical crossover event has been identified within the map interval; this event places the MEN2A locus centromeric to D10S102 and defines the orientation of the physical map on the chromosome. The orientation of the contig and order of the markers are centromere-RET-D10S94-D10S102-telomere. In addition, a microsatellite repeat polymorphism with a heterozygosity of 71% at the RET locus and a restriction fragment length polymorphism with a heterozygosity of 42% detected by a [lambda] clone from the D10S94 locus have been developed for high-resolution genetic linkage mapping and predictive diagnostic testing. These data place three important markers on a contiguous physical map, narrow the MEN2 disease locus interval, and provide a framework for further candidate gene identification efforts. Placement of these genetic loci along a clone-based map and continued expansion of the contig will also facilitate efforts to determine the relationship of physical to genetic distance near the chromosomes of human chromosomes. 41 refs., 3 figs., 1 tab.

  13. Haplotypes at the Tas2r locus on distal chromosome 6 vary with quinine taste sensitivity in inbred mice

    Directory of Open Access Journals (Sweden)

    Munger Steven D

    2005-06-01

    Full Text Available Abstract Background The detection of bitter-tasting compounds by the gustatory system is thought to alert animals to the presence of potentially toxic food. Some, if not all, bitter stimuli activate specific taste receptors, the T2Rs, which are expressed in subsets of taste receptor cells on the tongue and palate. However, there is evidence for both receptor-dependent and -independent transduction mechanisms for a number of bitter stimuli, including quinine hydrochloride (QHCl and denatonium benzoate (DB. Results We used brief-access behavioral taste testing of BXD/Ty recombinant inbred (RI mouse strains to map the major quantitative trait locus (QTL for taste sensitivity to QHCl. This QTL is restricted to a ~5 Mb interval on chromosome 6 that includes 24 genes encoding T2Rs (Tas2rs. Tas2rs at this locus display in total 307 coding region single nucleotide polymorphisms (SNPs between the two BXD/Ty RI parental strains, C57BL/6J (quinine-sensitive and DBA/2J (quinine insensitive; approximately 50% of these mutations are silent. Individual RI lines contain exclusively either C57BL/6J or DBA/2J Tas2r alleles at this locus, and RI lines containing C57BL/6J Tas2r alleles are more sensitive to QHCl than are lines containing DBA/2J alleles. Thus, the entire Tas2r cluster comprises a large haplotype that correlates with quinine taster status. Conclusion These studies, the first using a taste-salient assay to map the major QTL for quinine taste, indicate that a T2R-dependent transduction cascade is responsible for the majority of strain variance in quinine taste sensitivity. Furthermore, the large number of polymorphisms within coding exons of the Tas2r cluster, coupled with evidence that inbred strains exhibit largely similar bitter taste phenotypes, suggest that T2R receptors are quite tolerant to variation.

  14. Locus of Control in Offenders and Alleged Offenders with Learning Disabilities

    Science.gov (United States)

    Goodman, Wendy; Leggett, Janice; Garrett, Tanya

    2007-01-01

    Locus of control can be a useful measure of treatment outcome in offenders from the general population. However, there is little information regarding locus of control and offenders with learning disabilities. Existing measures of locus of control use complex language and abstract ideas that may not be accessible to individuals in this group. A…

  15. On the Relation of Locus of Control and L2 Reading and Writing Achievement

    Science.gov (United States)

    Ghonsooly, Behzad; Shirvan, Majid Elahi

    2011-01-01

    Locus of control, a psychological construct, has been the focus of attention in recent decades. Psychologists have discussed the effect of locus of control on achieving life goals in social/psychological interactions. While learning a foreign language involves both social interactions and psychological processes, the role and relation of locus of…

  16. Reframing Student Affairs Leadership: An Analysis of Organizational Frames of Reference and Locus of Control

    Science.gov (United States)

    Tull, Ashley; Freeman, Jerrid P.

    2011-01-01

    Examined in this study were the identified frames of reference and locus of control used by 478 student affairs administrators. Administrator responses were examined to identify frames of reference most commonly used and their preference order. Locus of control most commonly used and the relationship between frames of reference and locus of…

  17. Parental Locus of Control and the Assessment of Children's Personality Characteristics.

    Science.gov (United States)

    Ollendick, Duane G.

    1979-01-01

    A study of fourth graders and their parents was conducted to determine the relationship between parents' locus of control and their children's locus of control, anxiety, intelligence, achievement, and behavioral adjustment. The relationship between mothers' locus of control and children's characteristics was more consistent than between fathers…

  18. Locus of Control, Field Dependence, and Stress Reactivity in Young Adult Males.

    Science.gov (United States)

    Schweibinz, Janet S.

    This study examined the potential relationships between locus of control, field dependence, and stress reactivity in a sample of young adult males (N=40). Locus of control, field dependence, and stress reactivity were measured by the Rotter Locus of Control Scale, the Embedded Figures Test, and the Life Events Survey, respectively. State stress…

  19. Fine genetic mapping of a locus controlling short internode length in melon (Cucumis melo L.)

    Science.gov (United States)

    Compact and dwarfing vining habits in melon (Cucumis melo L.; 2n = 2x = 24) may have commercial importance since they can contribute to the promotion of concentrated fruit set and can be planted in higher plant densities than standard vining types. A diminutive (dwarf) melon mutant line (PNU-D1) wi...

  20. A major non-HLA locus in celiac disease maps to chromosome 19.

    NARCIS (Netherlands)

    Belzen, van MJ; Meijer, JW; Sandkuijl, L.A.; Bardoel, A.F.; Mulder, C.J.J.; Pearson, PL; Houwen, RH; Wijmenga, C.

    2003-01-01

    BACKGROUND AND AIMS: The pathogenesis of celiac disease is still unknown despite its well-known association with human leukocyte antigen (HLA)-DQ2 and DQ8. It is clear that non-HLA genes contribute to celiac disease development as well, but none of the previous genome-wide screens in celiac disease