在人类22号染色体上寻找精神分裂症易感基因座。

Search for a schizophrenia susceptibility locus on human chromosome 22.

作者信息

Polymeropoulos M H, Coon H, Byerley W, Gershon E S, Goldin L, Crow T J, Rubenstein J, Hoff M, Holik J, Smith A M

机构信息

Laboratory of Biochemical Genetics, NIMH, Washington, District of Columbia.

出版信息

Am J Med Genet. 1994 Jun 15;54(2):93-9. doi: 10.1002/ajmg.1320540203.

DOI:10.1002/ajmg.1320540203

PMID:8074169

Abstract

We used 10 highly informative DNA polymorphic markers and genetic linkage analysis to examine whether a gene locus predisposing to schizophrenia is located on chromosome 22, in 105 families with schizophrenia and schizoaffective disorder. The LOD score method, including analysis for heterogeneity, provided no conclusive evidence of linkage under a dominant, recessive, or penetrance free model of inheritance. Affected sib-pair analysis was inconclusive. Affected pedigree member analysis gave only suggestive evidence for linkage. Multipoint APM analysis, using 4 adjacent loci including D22S281 and IL2RB, a region of interest from the APM analysis, gave non-significant results for the three different weighting functions.

摘要

我们运用10个信息丰富的DNA多态性标记及遗传连锁分析，在105个患有精神分裂症和分裂情感性障碍的家庭中，检测易患精神分裂症的基因位点是否位于22号染色体上。对数优势计分（LOD）法，包括异质性分析，在显性、隐性或无外显率遗传模型下均未提供连锁的确凿证据。受累同胞对分析结果不明确。受累家系成员分析仅给出了连锁的提示性证据。使用包括D22S281和IL2RB在内的4个相邻位点进行多点APM分析（APM分析中的一个感兴趣区域），对于三种不同的加权函数均得出无显著结果。