河南汉族精神分裂症患者线粒体DNA 7445和5178位点突变分析  

Analysis of polymorphisms in mitochondrial DNA 7445,5178 point mutation of schizophrenia

作　　者：曹玉媛[1,2] 张景亮[1] 徐朝阳[1] 程晓丽[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]郑州市精神防治医院精神科,郑州450005

出　　处：《郑州大学学报（医学版）》2011年第4期523-525,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:了解线粒体DNA(mtDNA)7445、5178位点突变与河南汉族精神分裂症发生之间的关系。方法:应用PCR-限制性片段长度多态性技术结合直接测序的方法对随机抽取的无亲缘关系的296例精神分裂症患者和305例正常人进行mtDNA7445和5178位点突变检测。结果:在精神分裂症患者组中发现mtDNA5178C→A突变88例(29.7%),对照组中突变69例(20.3%),2组相比差异有统计学意义(χ2=3.931,P=0.047);2组均未发现mtDNA7445位点突变。结论:mtDNA5178C→A突变可是精神分裂发生的风险因素,而mtDNA7445位点可能与河南汉族精神分裂的发生无关。Aim：To investigate the prevalence of mitochondrial DNA（mtDNA）mutation at position 7445 and 5178 C→A in Henan Han patients with schizophrenia（SZ）.Methods：296 unrelated SZ patients with schizophrenia and 305 health control individuals without family history of schizophrenia were examined.The presence of mtDNA 7445 and 5178 mutation was determined by polymerase chain reaction amplification and restriction fragment length polymorphism（PCR-RFLP）.Finally,mutant mtDNA was confirmed by DNA sequencing.Results：The mtDNA mutation at position 5178 C→A was found in 69 of 305 control individuals（20.3%）,and this mutation was found in 88 of 296 patients with SZ（29.7%）.There was significant difference in respect to the frequency of the mutation between patients and controls（χ2=3.931,P=0.047）.The mtDNA mutation at position 7445 was not found in any of the patients and controls.Conclusion：The mtDNA mutation at position 5178 C→A is possiblly related to SZ probably.The mtDNA mutation at position 7445 may be not related to SZ.

关 键 词：精神分裂症 线粒体DNA 点突变 

分 类 号：R394.5[医药卫生—医学遗传学]