| 摘要: |
| \[摘要\]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mtDNA 3394T/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。 |
| 关键词: 精神分裂症 线粒体DNA tRNALeu(UUR)基因 ND1基因 点突变 |
| DOI：10.3724/SP.J.1008.2011.0179 |
| 投稿时间：2010-11-19修订日期：2011-01-09 |
| 基金项目:河南省卫生厅科技基金(200903006). |
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| Correlation analysis of polymorphisms in mtDNA 3243, 3316, 3394 point mutation with schizophrenia |
| ZHANG Jing-liang1, CHENG Xiao-li1*, LIU Shu-lian1,3, CAO Yu-yuan2, FENG Qing-chuan1, XU Zhao-yang1 |
| (1. Department of Cell Biology and Medical Genetics, College of Basic Medicine, Zhengzhou University, Zhengzhou 450052, Henan, China; 2. Zhengzhou Hospital of Mental Diseases, Zhengzhou 450005, Henan, China; 3. Department of Basic Nursing, Zhengzhou Health School, Zhengzhou 450003, Henan, China) |
| Abstract: |
| \[Abstract\]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. MethodsA 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.ResultsmtDNA 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. ConclusionThe 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. |
| Key words: schizophrenia mitochondrial DNA RNALeu(UUR) gene ND1 gene point mutation |
