线粒体DNA3243、3316、3394位点突变与精神分裂症相关分析  

Correlation analysis of polymorphisms in mtDNA 3243,3316,3394 point mutation with schizophrenia

作　　者：张景亮[1] 程晓丽[1] 刘淑莲[1,2] 曹玉媛 封青川[1] 徐朝阳[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450052 [2]郑州卫校基础护理教研室,郑州450003 [3]郑州市精神病防治医院,郑州450005

出　　处：《第二军医大学学报》2011年第2期179-181,共3页Academic Journal of Second Military Medical University

基　　金：河南省卫生厅科技基金(200903006)~~

摘　　要：目的分析线粒体tRNALeu(UUR)基因3243位点及ND1基因3316、3394位点突变对精神分裂症(SZ)发病的影响。方法采用PCR扩增、限制性内切酶消化、琼脂糖凝胶电泳分型检测、DNA测序等方法,对随机抽取的无亲缘关系的250例患者(SZ组)和292例对照组的外周血mtDNA进行3243、3316和3394位点的突变检测。结果在SZ组中发现8例3316G/A突变,对照组中3例,两组相比差异无统计学意义(P=0.138)。在SZ组中发现15例3394T/C突变,对照组中有4例,两组相比差异有统计学意义(P=0.007)。在精神分裂症患者组和对照组中均未发现3243A/G突变。结论 mtDNA3394T/C突变可能与SZ发生有一定关系,mtDNA 3243A/G、3316G/A突变可能与SZ发生无关。Objective To study the effects of mitochondrial DNA （mtDNA） point mutations 3243A/G, 3316G/A, and 3394T/C on the incidence of schizophrenia （SZ） in the Han nationality in Henan province. Methods A total of 250 unrelated patients and 292 normal controls without family history of schizophrenia were included in the present study, and their peripheral blood samples were subjected to examination by PCR, digestion with different restriction enzymes, agarose gel electrophoresis, and DNA sequencing to detect the mutations of mtDNA 3243, 3316, and 3394. Statistical analysis was performed by SPSS17.0 statistic software. Results mtDNA 3316 G/A mutation was found in 8 SZ patients and in 3 controls （P^0.05）. mtDNA 3394 mutation was found in 15 SZ patients and 4 controls, with significant difference between the two groups （P〈0. 05）. No mtDNA 3243 mutation was found in the two groups. Conclusion The findings in the present study indicate that mutation of mtDNA 3394T/C may be related to SZ, and the mutation of mtDNA 3243A/G and 3316G/A may not be related to SZ.

关 键 词：精神分裂症 线粒体DNA tRNA^Leu(UUR)基因 ND1基因 点突变 

分 类 号：R749.3[医药卫生—神经病学与精神病学]