河南汉族精神分裂症患者mtDNA 5351位点突变与GRIK2基因两位点多态性检测  

Detection of mtDNA 5351 mutation,two sites polymorphism of GRIK2 gene in Henan Han schizophrenia patients

作　　者：吴俊涵[1] 刘书连 程晓丽[1] 李文超 曹玉媛 封青川[1] 贺颖[1] 徐朝阳[1] 刘华[1] 

机构地区：[1]郑州大学基础医学院细胞生物学与医学遗传学教研室,郑州450001 [2]河南洛阳荣康医院,洛阳471013 [3]郑州市卫生学校基础护理教研室,郑州450003 [4]郑州精神病防治医院,郑州450005

出　　处：《郑州大学学报（医学版）》2011年第1期71-73,共3页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省卫生厅科技基金资助项目200903006

摘　　要：目的:检测精神分裂症(SZ)患者线粒体(mtDNA)A5351G突变和谷氨酸卡纳氨酸盐受体2(GRIK2)基因rsA2227283G、rsT6922753C多态性。方法:选取河南汉族人群SZ患者312例(患者组),以体检健康的正常人340例为对照,应用PCR和限制性片段长度多态性(RFLP)技术验证基因型,分析等位基因频率和基因型频率。结果:患者组mtDNA5351位点A、G基因频率分别为84.9%和15.1%,对照组分别为91.8%和8.2%,2组差异有统计学意义(χ2=6.583,P=0.006);2组GRIK2基因rsA2227283G和rsT6922753C基因型和等位基因频率差异均无统计学意义(χ2=0.650,0.890,0.561,0.523,1.200,0.323,P均>0.05)。结论:mtDNA5351位点A→G突变可能对河南汉族SZ发生有一定协同作用;未发现GRIK2基因rsA2227283G和rsT6922753C多态性与河南汉族SZ发生有关。Aim：To study the effects of mtDNA 5351 mutation and GRIK2 gene rsA2227283G,rsT6922753C polymorphism schizophrenia.Methods：A total of 312 cases of schizophrenia patients and 340 normal controls were selected from Henan province.Gene and genotype of mtDNA 5351 and GRIK2 were detected using PCR,digestion of different restriction enzymes,agarose gel electrophoresis.Results：The frequency of mtDNA 5351 gene A,G was 84.9%,15.1% in the patient group and 91.8%,8.2% in the normal group,and the difference was significant（χ^2=6.583,P=0.006）and no significant difference in GRIK2（rs2227283：χ^2=0.650,0.890,1.200,P0.05;rs6922753：χ2=0.561,0.323,0.323,P0.05）.Conclusion：mtDNA 5351 A→G mutation may havea help to schizophrenia attack.GRIK2 genes rsA2227283G and rsT6922753C may no influence on schizophrenia attack.

关 键 词：精神分裂症 线粒体DNA 谷氨酸卡纳氨酸盐受体2 基因多态性 

分 类 号：R394.5[医药卫生—医学遗传学]