多囊卵巢综合征与CYP_(17)基因多态性的关联性研究  

Study on the association between polymorphism in the regulatory region of the 17 α-hydroxylase-17, 20-lyase (CYP_(17))gene and polycystic ovary syndrome

作　　者：曹云霞[1] 庄广伦[2] 

机构地区：[1]安徽医科大学第一附属医院妇产科,230022 [2]中山医科大学第一附属医院妇产科

出　　处：《现代妇产科进展》1999年第4期305-308,共4页Progress in Obstetrics and Gynecology

摘　　要：目的：探讨多受卵巢综合征（PCOS）及其高雄激素血症与CYP(17)基因多态性的关联性。方法；用多聚酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测56例PCOS患者（实验组）及30例正常妇女（对照组）CYP(17)基因的多态性，该基因翻译起始点-34bp处因存在单一碱基的变异（C取代T）产生A1（无变异）及A2（有变异）两个等位基因，经PCR扩增后，用限制性内切酶（MspA1I）消化后电泳检测和比较。结果：PCOS组A1和A2等位基因频率分别为45．5％和54．5％，与对照组差异无显著性；有高雄激素血症的PCOS组A2等位基因出现频率（33／43）显著高于无高雄激素血症者（6／13）（P＜0．05）。结论：CYP(17)基因多态性不是PCOS的主要致病因素，但其A2等位基因的存在可能会改变该基因的表达，对PCOS高雄激素血症的形成起重要的辅助作用。Objective: To investigate the association between polymorphism in the regulatory region of the 17α-hydroxylase-17, 20-lyase (CYP(17)) gene and polycystic ovary syndrome (PCOS) with hyperandrogenism. Methods: 56 cases of PCOS (test group ) and 30 cases of normal women (control group)were studied. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)were empolyed to detect the polymorphism of CYP(17) gene. The thyming (T)to cytosine (C)polymorphism at-34 bp, denoted allele A, and A2 respectively, was detected by amplification of DNA followed by restriction enzyme digestion. Results: The prevalences of the A1 and A2 alleles were 45.5% and 54.5% respectively in the PCOS group which was not significantly different from that in control group. The frequency of A2 allele in PCOS with hyperandrogenism was significantly higher than that in PCOS without hyperandrogenism (P<0.05). Conclusions: The polymorphism of CYP(17) gene can be excluded as a causative gene for PCOS,but the A2 allele may modify the expression of the gene and plays an important assisted role in formation of hyperandrogenism.

关 键 词：基因 CYP17 多态现象 多囊卵巢综合征 

分 类 号：R711.750.2[医药卫生—妇产科学]