河南汉族人群精神分裂症患者线粒体ATP6基因9115、9185位点突变分析
Analysis of mutation of mitochondrial ATP6 gene 9115 and 9185 loci in patients with schizophrenia in Henan Han population

目的:分析线粒体ATP6基因的9115位点和9185位点突变与精神分裂症的关系。方法:采用病例-对照研究方法、PCR-限制性内切酶片段长度多态性及基因测序技术,分别对244例精神分裂症患者和260例正常对照的外周血线粒体ATP6基因 9115及9185位点进行检测、分析。结果:病例组9115位点突变率高于对照组(P=0.025),9115G能增加精神分裂症的患病风险(OR=4.790,95%CI=1.046～21.972); 病例组及对照组中均未发现9185位点突变。结论:线粒体ATP6基因9115A/G突变可能是精神分裂症的危险因素。
Aim: To analyze the correlation between the 9115 and 9185 loci mutations in the mitochondrial ATP6 gene and schizophrenia.Methods: A total of 244 cases of schizophrenia(patient group)and 246 healthy subjects(control group)were recruited in the study. The case-control method, PCR-restriction fragment length polymorphism analysis method and DNA sequencing technology were used. Mutation of mitochondrial ATP6 gene 9115 and 9185 loci was detected.Results: The mutation rate of 9115 loci in patient group was higher than that of control group(P=0.025). 9115G might increase the risk of schizophrenia(OR=4.790,95%CI=1.046-21.972). There were no 9185 loci mutation in both groups.Conclusion: The mitochondrial ATP6 gene 9115 locus A to G mutation may be a risk factor for schizophrenia