通过连锁分析研究XY假常染色体区域在精神分裂症遗传易感性中的作用。
Investigation by linkage analysis of the XY pseudoautosomal region in the genetic susceptibility to schizophrenia.
作者信息
Kalsi G, Curtis D, Brynjolfsson J, Butler R, Sharma T, Murphy P, Read T, Petursson H, Gurling H M
机构信息
Molecular Psychiatry Laboratory, University College London Medical School.
出版信息
Br J Psychiatry. 1995 Sep;167(3):390-3. doi: 10.1192/bjp.167.3.390.
BACKGROUND
A susceptibility locus for schizophrenia in the pseudoautosomal region has been proposed on the basis of a possible excess of sex chromosome aneuploidies among patients with schizophrenia and an increased sex concordance in affected sib pairs. Several studies investigating this hypothesis have produced conflicting evidence.
METHOD
In a series of Icelandic and British families, we used lod score and sib pair linkage analyses with markers for the MIC2 and DXYS14 loci on the pseudoautosomal XY region.
RESULTS
Lod and sib pair linkage analysis with these markers produced strongly negative scores. Heterogeneity testing also produced negative results.
CONCLUSION
We conclude that the present study provides no support for the involvement of either the pseudoautosomal region or the nearby region of the sex chromosomes in the aetiology of schizophrenia.
背景
基于精神分裂症患者中可能存在的性染色体非整倍体过多以及患病同胞对中性别一致性增加，有人提出在假常染色体区域存在精神分裂症的一个易感基因座。几项研究该假说的调查得出了相互矛盾的证据。
方法
在一系列冰岛和英国家庭中，我们使用对数优势比分（lod score）和同胞对连锁分析，采用假常染色体XY区域上MIC2和DXYS14基因座的标记。
结果
使用这些标记进行的对数优势比分和同胞对连锁分析得出了强负分数。异质性检验也得出了阴性结果。
结论
我们得出结论，本研究不支持假常染色体区域或性染色体附近区域参与精神分裂症病因学的观点。
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