Asherson P, Parfitt E, Sargeant M, Tidmarsh S, Buckland P, Taylor C, Clements A, Gill M, McGuffin P, Owen M
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff.
Br J Psychiatry. 1992 Jul;161:63-8. doi: 10.1192/bjp.161.1.63.
Evidence for a pseudoautosomal locus for a schizophrenia susceptibility gene was sought by two forms of analysis of 25 multiply affected families. Firstly, in the sample as a whole there was an excess of same-sex over mixed-sex siblings compared with that expected. Secondly, linkage analysis was performed in six of the families. The genotypes were studied for DXYS14, a highly polymorphic marker in the telomeric pseudoautosomal region. No evidence for positive linkage was found with two-point analysis under eight different genetic models for the mode of transmission. A non-parametric, sibling-pair analysis also failed to detect linkage. Our findings provide no evidence for linkage within the pseudoautosomal region; same-sex concordance must arise from some other mechanism.
通过对25个多病例家庭的两种分析形式，探寻精神分裂症易感基因的拟常染色体位点的证据。首先，在整个样本中，同性别的兄弟姐妹数量比预期的混合性别的兄弟姐妹数量多。其次，对其中六个家庭进行了连锁分析。研究了DXYS14的基因型，DXYS14是端粒拟常染色体区域的一个高度多态性标记。在八种不同的遗传传递模式模型下进行两点分析，未发现阳性连锁的证据。非参数性的同胞对分析也未能检测到连锁。我们的研究结果没有提供拟常染色体区域内连锁的证据；同性别的一致性肯定是由其他某种机制引起的。
