精神分裂症患者染色体D6S296等微卫星标志的多态性分析

Polymorphism of microsatellite markers D6S296, etc. in patients with schizophrenia

目的 探讨人类第 6号染色体上与精神分裂症有关的易感基因位点。方法 研究对象为上海地区 1 78例精神分裂症患者 (其中 82例为病程在 1 0年以上的慢性精神分裂症患者 ) ,以 88名健康人为正常对照。应用扩增片段长度多态性技术 (AFLP) ,观察D6S470、D6S2 74、D6S2 96和D9S1 75等 4个微卫星标志多态性的分布。结果 精神分裂症患者和健康人D6S470、D6S2 74、D6S2 96和D9S1 75微卫星标志上各等位基因频率的分布均符合Hardy Weinberg平衡。慢性精神分裂症组患者D6S2 96的 2 64bp等位基因频率为 0 .1 688,而健康人组为 0 .0 390 ,差异有非常显著意义 (χ2 =1 7.68,P<0 .0 0 1 ) ;其他微卫星标志的各等位基因频率分布在各组之间的差异无显著意义。D6S2 96的 2 64bp等位基因与慢性精神分裂症间存在强烈关联 (RR =8.30 ,χ2 =1 3 .91 ,υ=1 ,P <0 .0 0 1 )。结论 人类 6号染色体上D6S2

Objective To investigate the loci associated with susceptibility to schizophrenia in the human chromosome 6. Methods Genomic DNA was isolated from the blood samples of 178 schizophrenia patients in Shanghai, including 82 chronic schizophrenics with a course of more than 10 years, and 88 healthy persons as controls. Amplified fragment length polymorphism (AFLP) technique was used to investigate the polymorphism of the four microsatellite markers: D6S470, D6S274, D6S296, and D9S175. Results The distribution of the allele frequencies in these four microsatellite markers conformed to Hardy Weinberg equilibrum. The gene frequency of the allele 264 bp of D6S296 was 0.1688 in chronic schizophrenics, and was 0.039 0 in healthy persons (χ 2=17 68, P <0.001). The gene frequencies of other alleles did not differ between the schizophrenics and controls. There was a very strong association between chronic schozophrenia and the allele 264 bp of D6S296 ( RR =8.30, χ 2=17.68, υ=1, P <0.001). Conclusion Gene(s) associated with susceptibility to schizophrania may exist in the microsatellite marker region D6S296 in the chromosome 6.