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6号染色体p24 - 22区域存在精神分裂症潜在的易患基因位点:遗传异质性的证据。

A potential vulnerability locus for schizophrenia on chromosome 6p24-22: evidence for genetic heterogeneity.

作者信息

Straub R E, MacLean C J, O'Neill F A, Burke J, Murphy B, Duke F, Shinkwin R, Webb B T, Zhang J, Walsh D

机构信息

Department of Psychiatry, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA.

出版信息

Nat Genet. 1995 Nov;11(3):287-93. doi: 10.1038/ng1195-287.

DOI:10.1038/ng1195-287
PMID:7581452
Abstract

In 265 Irish pedigrees, with linkage analysis we find evidence for a vulnerability locus for schizophrenia in region 6p24-22. The greatest lod score, assuming locus heterogeneity, is 3.51 (P = 0.0002) with D6S296. Another test, the C test, also supported linkage, the strongest results being obtained with D6S296 (P = 0.00001), D6S274 (P = 0.004) and D6S285 (P = 0.006). Non-parametric analysis yielded suggestive, but substantially weaker, findings. This locus appears to influence the vulnerability to schizophrenia in roughly 15 to 30% of our pedigrees. Evidence for linkage was maximal using an intermediate phenotypic definition and declined when this definition was narrowed or was broadened to include other psychiatric disorders.

摘要

在265个爱尔兰家系中,通过连锁分析,我们在6p24 - 22区域发现了精神分裂症易患位点的证据。假设位点异质性,与D6S296的最大对数优势分数为3.51(P = 0.0002)。另一项检验,即C检验,也支持连锁关系,最强的结果是与D6S296(P = 0.00001)、D6S274(P = 0.004)和D6S285(P = 0.006)获得的。非参数分析得出了提示性但明显较弱的结果。在我们大约15%至30%的家系中,该位点似乎影响对精神分裂症的易感性。使用中间型表型定义时连锁证据最强,当该定义变窄或扩大以包括其他精神障碍时,证据减弱。

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