线粒体基因D-Loop区单核苷酸变异与多囊卵巢综合征的相关性研究  

Relationship between single nucleotide variation in mitochondrial DNA D-Loop region and PCOS

作　　者：胡志萍[1] 张秋芳[1] 郝婷[1] 王静[1] 乔杰[1] 张小为[1] 王颖[1] 

机构地区：[1]北京大学第三医院生殖中心,100191

出　　处：《中国妇产科临床杂志》2009年第5期370-373,共4页Chinese Journal of Clinical Obstetrics and Gynecology

基　　金：教育部留学回国人员科研启动基金资助(JHG06-7-03)

摘　　要：目的探讨线粒体基因D-Loop区变异与多囊卵巢综合征(PCOS)发病及临床症状的相关性。方法收集北京大学第三医院生殖中心就诊的PCOS患者77例,男性因素或输卵管因素的不孕症患者45例,进行血DNA抽提和线粒体片段的扩增,测序分析PCOS与非PCOS组基因变异的差异及与临床症状的相关性。结果PCOS组与对照组D-Loop区均发现数个单核苷酸变异,其中195C/T、410A/T、491T/C、16094T/C、16173C/T、16185C/A、16225T/C、16313T/C、16321G/A、146T/C、150T/C、16190C/T、16322T/C、16364T/C是NC-001807.4线粒体数据库中报道过的多态性位点(SNPs);此外,还出现152T/C、248A/-、16184C/-、16195C/-、16300T/C和16306T/C6个SNPs。16184C/-位点在PCOS组与对照组比较,差异有统计学意义(P=0.034),而且在月经紊乱组与非紊乱组差异有统计学意义(P=0.043)。结论线粒体高变区单核苷酸变异位点中,除已报道的SNPs外,其余可能是中国汉族人特有的线粒体多态性位点。其中,16184C/-可能与PCOS的发病和月经周期的紊乱有关。Objective To explore the relationship between single nucleotide variation in mitochondrial DNA （mtDNA） D- Loop region and the etiology, clinical symptoms of polycystic ovarian syndrome （PCOS）. Methods 77 cases with PCOS and 45 non - PCOS （for male - or oviduct tube - factor） infertile patients were enrolled in this prospective cohort study, The genomic DNA extraction were conducted. D- Loop region in mtDNA were amplified by polymerase chain reaction （PCR）. PCR product were sequenced and aligned, single nucleotide variations were compared between PCOS and non- PCOS patients, correlation analysis were done between single nucleotide varia- tion and clinical index of PCOS. Results Several single nueleotide variation included 146T/C, 150T/C, 152T/C, 248A/-, 195C/T, 410A/T, 491T/C, 16094T/C, 16173C/T, 16184C/-, 16185C/A, 16190C/T, 16195C/-, 16225T/C, 16300T/C, 16306T/C, 16313T/C, 16321G/A, 16322T/C and 16364T/C were found both in PCOS and non-PCOS group, among which 195C/T. 410A/T. 491T/C. 16094T/C. 16173C/T. 16185C/A. 16225T/C. 16313T/C. 16321G/A. 146T/C. 150T/C. 16190C/T. 16322T/C. 16364T/C were reported as SNPs in mtDNA database NC_ 001807. 4. 16184C/- differed between the two groups （P=O. 034）, Conclusions Among the single nueleotide variations, there are the SNPs specially in Chinese people. In addition to the SNPs which has been repor- ted, 16184C/- may play an important role in the development and menstrual disorder of PCOS.

关 键 词：多囊卵巢综合征 线粒体基因 线粒体基因D—Loop区 单核苷酸多态性 月经紊乱 

分 类 号：R711.75[医药卫生—妇产科学] R394[医药卫生—临床医学]