济宁地区CYP17基因多态性及多囊卵巢综合征相关性探究.docVIP

济宁地区CYP17基因多态性及多囊卵巢综合征相关性探究[摘要] 目的 探讨CYP17基因启动子区域-34bp处T→C碱基置换与多囊卵巢综合征(PCOS)患者高睾酮(T)形成的关系。方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)及电泳分离技术检测177例PCOS患者及159例正常对照妇女CYP17基因启动子区域-34bp处碱基置换及其分布，比较PCOS患者及正常对照妇女CYP17基因多态及其与高T之间的关系。结果 PCOS组血清T、黄体生成素(LH)、黄体生成素/卵泡刺激素比值(LH/FSH)均显著高于对照组(P＜0.001)；各基因型A1A1、A1A2、A2A2及A1、A2等位基因在PCOS组与对照组间分布无统计学差异(P＞0.05)；PCOS各基因组的T值均高于对照组，且PCOS组A2A2型T水平显著高于另两型(P＜0.05)，突变组T水平亦显著高于无突变组T水平(P＜0.05)。结论 CYP17基因启动子区域-34bp处T→C碱基置换与PCOS 高T之间有一定的相关性，可能是PCOS的重要致病基因之一。 [关键词] 多囊卵巢综合征 基因 CYP17 多态性 [中图分类号] R34[文献标识码] A[文章编号] 1005-0515（2011）-08-025-03 Study on the Relationship Between the Polymorphisms in CYP17 Gene and Polycystic Ovary Syndrome in Jining City Zhao ChangxingWang Fang (Family Planning Service Stations of Jinxiang County in Jining, Jining,Shangdong,272200) [Abstract] Objective To explore the relationship between the T→C substitution of -34bp of the promotor of CYP17 gene and the pathogenesis of high testosterone homone in patients with polycystic ovary syndrome(PCOS) in Jining city.Methods 177 cases of PCOS and 159 nomal women as controls were studied in Jinxiang family planning service stations and the Affiliated Jinxiang Hospital of Jining Medical College from July 2007 to July 2010. Polymerase chain reaction and electrophoresis on polyacrylamidegel were employed to detect the T→C substitution of -34bp of the promotor of CYP17 gene and its distribution.At the same time, the relationship between the mumations and high T of PCOS were compared. Results The levels of T、LH and LH/FSH were higher in PCOS group than in control group(P＜0.001);The prevalence rate of CYP17 genotype A1A1, A1A2,A2A2 and A1 and A2 in controls group respectively, Neither the genotype distributions nor the allele frequencies were statistically different between the two groups(P＞0.05);In PCOS group,the T levels of the genotype A2A2 group were statistically higher(P 1.3 主要仪器及试剂 Taq DNA聚合酶，dNTP，50 bp DNA、100bp DNA Marker购自宝生物工程(大连)有限公司，限制性内切酶MspA1I购自美国Promega(普洛麦