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Recent linkage results independently derived from a large French Canadian pedigree and Danish kindreds coupled with supportive data from other studies provide compelling evidence for a bipolar disorder susceptibility locus on chromosome 12q23-q24. The idea is further strengthened by the finding that Darier's disease, which maps to this region, has been shown to cosegregate with affective disorder in a family. This linkage finding, however, was not supported in other independent genome scans. On chromosome 16, bipolar families from Denmark exhibited suggestive linkage with D16S510, on 16p13. Multipoint nonparametric analysis on the NIMH Genetics Initiative bipolar pedigrees yielded increased allele sharing that maximized ∼18 cM proximal to the latter locus. In contrast, evidence of linkage was not detected in other panels of bipolar families that were presented. At 16p13, a maximum multipoint lod score of 4 for a latent class-derived phenotype that has aspects of alcohol dependence was found in a genome scan of 105 families from the Collaborative Study of the Genetics of Alcoholism, identifying a potential vulnerability locus. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:255–259, 1999. Published 1999 Wiley-Liss, Inc.  相似文献   

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The chromosomes 8 and 10 workshop took place at the Sixth World Congress on Psychiatric Genetics from October 6th-10th, 1998 in Bonn, Germany. Aim of the workshop was to discuss and summarize reports on potential susceptibility genes for psychiatric disorders. Linkage-findings on chromosome 8 concentrate on 8p22-p21 and include mainly schizophrenic disorders. Two areas on chromosome 10 were reported to contain potential susceptibility genes for schizophrenic as well as for affective disorders. The strongest findings were reported for 10p14-p11, while other groups communicated also linkage data for the telomeric part of the long arm to the workshop.  相似文献   

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The chromosomes 8 and 10 workshop took place at the Sixth World Congress on Psychiatric Genetics from October 6th–10th, 1998 in Bonn, Germany. Aim of the workshop was to discuss and summarize reports on potential susceptibility genes for psychiatric disorders. Linkage-findings on chromosome 8 concentrate on 8p22-p21 and include mainly schizophrenic disorders. Two areas on chromosome 10 were reported to contain potential susceptibility genes for schizophrenic as well as for affective disorders. The strongest findings were reported for 10p14-p11, while other groups communicated also linkage data for the telomeric part of the long arm to the workshop. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88: 239–243, 1999. © 1999 Wiley-Liss, Inc.  相似文献   

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This report describes linkage data presented at the Workshop on Chromosomes 11, 14, and 15 at the Sixth World Congress of Psychiatric Genetics in Bonn, Germany, together with relevant linkage data submitted to the chair and co-chair, and it is presented in the context of the previous literature concerning these chromosomes. We have attempted to collate current linkage data to provide a guide to potentially interesting findings on chromosomes 11, 14, and 15 for the phenotypes of bipolar disorder, schizophrenia, alcoholism, autism, and spelling and reading disability. We discuss methodological limitations and provide chromosome ideograms and tables summarizing findings to date. The most promising region currently appears to be 15q13-q15 in the region of the alpha 7 nicotinic receptor for the phenotype of schizophrenia (and, perhaps, more generally for functional psychosis). Additionally, 15q11-q13 in the region of GABRB3 holds interest as a potential site of a susceptibility gene for autism. Two regions on chromosome 11, 11p15 in the region of tyrosine hydroxylase gene and 11q22-q23 in the region of DRD2, continue to retain some interest for functional psychosis. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:244–254, 1999. © 1999 Wiley-Liss, Inc.  相似文献   

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Chromosomal data from 82 informative, unrelated Ewing's sarcoma (ES) specimens (including 20 personal specimens) were reviewed for secondary changes additional to the t(11;22)(q24;q12). Additional numerical and/or structural changes were found in 75 specimens. Trisomy 8 was observed consistently in half of the 43 cases selected for analysis of numerical changes. A nonrandom der(16) was observed as a result of an unbalanced t(1;16) in 18% of the 82 analyzed for structural changes. Consistent involvement of chromosome #16 in rearrangements with chromosome #1 may be an additional chromosome change specifically associated with ES.  相似文献   

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Chromosomes, genes, and cancer.   总被引:4,自引:0,他引:4       下载免费PDF全文
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The report of the 1997 workshop presented overall evidence providing strong support for a susceptibility locus for bipolar disorder at C21q22-23. The 1998 workshop considered the latest results from four groups, and additional studies also have been incorporated into this report. The workshop noted that there was possibly a degree of overlap between the regions implicated by the large samples of the multiplex National Institute of Mental Health pedigrees (affected sib pair analysis: p = 0.0006) and the US/Israeli pedigrees of the New York group (admixture lod = 3.35), in an area a few centimorgans proximal to PFKL. Participants concluded that the evidence implicating this region remains as strong as any, and were optimistic that further investigation would eventually lead to the identification of a susceptibility gene.  相似文献   

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A teachers' workshop.   总被引:6,自引:6,他引:0       下载免费PDF全文
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Specific chromosome changes are consistently observed in numerous types of neoplasms. These chromosome changes are generally seen only in malignant cells and are not present in somatic cells. Associations of an increased incidence of cancer following exposure to certain chromosome breakage agents, in chromosome instability syndromes, and in patients with gene or constitutional chromosomal imbalances, suggest that chromosomal changes play a role in the etiologies of malignancies. The purpose of this paper is to review briefly chromosomal aberrations in cancer in relation to etiology. Awareness of the probable multiple causes of human cancer and the importance of multidisciplinary collaboration in the investigation of these diseases are essential for a better understanding of this complex group of diseases.  相似文献   

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