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第12号和第16号染色体研讨会

Chromosomes 12 and 16 workshop.

作者信息

Detera-Wadleigh S D

机构信息

National Institute of Mental Health Intramural Program, National Institutes of Health, Bethesda, Maryland 20892, USA.

出版信息

Am J Med Genet. 1999 Jun 18;88(3):255-9. doi: 10.1002/(sici)1096-8628(19990618)88:3<255::aid-ajmg8>3.0.co;2-v.

Abstract

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 approximately 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.

摘要

最近,来自一个大型法裔加拿大家系和丹麦家族的连锁研究结果,再加上其他研究的支持性数据,为12q23 - q24染色体上的双相情感障碍易感基因座提供了有力证据。映射到该区域的 Darier 病在一个家族中与情感障碍共分离这一发现,进一步强化了这一观点。然而,这一连锁研究结果在其他独立的基因组扫描中并未得到支持。在16号染色体上,来自丹麦的双相情感障碍家族与位于16p13的D16S510显示出提示性连锁。对美国国立精神卫生研究所(NIMH)遗传学倡议双相情感障碍家系进行的多点非参数分析显示,等位基因共享增加,在后者基因座近端约18厘摩处达到最大值。相比之下,在其他双相情感障碍家族样本中未检测到连锁证据。在16p13,对来自酒精中毒遗传学合作研究的105个家庭进行的基因组扫描中,发现一种具有酒精依赖特征的潜在类属衍生表型的最大多点对数优势得分为4,确定了一个潜在的易感基因座。

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