白细胞介素_10基因启动子多态性与子宫内膜异位症遗传易感性相关性.pdfVIP

HEREDITAS (Beijing) 2009 5 , 31(5): 479―484 ISSN 0253-9772 研究报告 DOI: 10.3724/SP.J.1005.2009.00479 白细胞介素-10 基因启动子多态性与子宫内膜异位症 遗传易感性的相关性 何佩, 林俊, 张信美, 邓琳, 马俊彦 , 310006 为了探讨中国汉族妇女白细胞介素-10(IL-10)启动子的基因多态性与子宫内膜异位症(EMs)遗传易感性 的关系, 文章应用扩增阻滞突变系统-聚合酶链反应(ARMS-PCR)结合DNA 测序法, 以及聚合酶链反应- 限制性 片段长度多态性(PCR-RFLP)分析方法, 对 119 例不同期别的 EMs 组患者和 120 例随机抽取的汉族妇女进行了 IL− 10− 1082G/A、−819T/C 和−592A/C 的基因多态性分析。结果表明: EMs 组− 1082 等位基因频率和基因型分布 与对照组比较, 差异无显著(P0.05), 而EMs 组−819C 或−592C、−819CC 和TC 或−592CC 和AC 的等位基因或 基因型频率均显著高于对照组(P0.05); 另外, Ⅲ- Ⅳ期EMs 患者−819C 或−592C、−819CC 和TC 或−592CC 和 AC 的等位基因或基因型频率又显著高于Ⅰ- Ⅱ期EMs 患者和对照组(P0.01) 。这表明IL-10−819T/C 和−592A/C 位点多态性与中国汉族妇女EMs 发病的易感性有一定关系。 子宫内膜异位症; 白细胞介素-10; 多态性; 遗传易感性 Relationship between IL-10 promoter gene polymorphisms and the susceptibility to endometriosis HE Pei, LIN Jun, ZHANG Xin-Mei, DENG Lin, MA Jun-Yan The Obstetrics and Gynecology Hospital, College of Medicine, Zhejiang University, Hangzhou 310006, China Abstract: The purpose of this study was to investigate the relationship between IL-10 promoter gene polymorphism and the susceptibility to endometriosis (EMs) in Chinese population. Amplification refractory mutation system polymerase chain reactions (ARMS-PCR) and DNA sequencing were performed to detect polymorphism of –1082G/A site and PCR-RFLP was used to determine the genotypes in –819T/C and –592A/C sites. One hundred and nineteen Chinese women with different stage EMs and 120 controls were employed in this study. Although there were no significant differences in the polymorphism of –1082 site between two groups (P0.05), the frequencies of –819C, −592C alleles and –819 CC+TC, −592 CC+AC genotypes were significantly increased in EMs patients compared with the controls