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目的探讨CYP17 T-34C、CYP1A2 G-2964A基因多态性与子宫内膜异位症遗传易感性的关系。方法抽取108例确诊为子宫内膜异位症患者及84例对照组女性的静脉血,提取全基因组DNA,分别用聚合酶链式反应(PCR)技术扩增CYP17 T-34C、CYP1A2 G-2964A多态位点的基因片段,并对其进行酶切,根据酶切结果计算出各等位基因的表型频率,用χ2检验及OR值分析其多态性与子宫内膜异位症的关系。结果病例组和对照组CYP17基因的基因型及等位基因的频率分布比较差异有统计学意义(P<0.05)。病例组和对照组CYP1A2基因型、等位基因频率的比较差异无统计学意义(P>0.05)。结论CYP17 T-34C可能与III、IV期子宫内膜异位症发病风险相关。CYP1A2 G-2964A多态性可能不是子宫内膜异位症独立的危险因素。
Objective To investigate the relationship between genetic polymorphisms of CYP17 T-34C and CYP1A2 G-2964A and genetic susceptibility to endometriosis. Methods The venous blood of 108 women diagnosed as endometriosis and 84 control women were collected and the whole genome DNA was extracted. The CYP17 T-34C and CYP1A2 G-2964A were amplified by polymerase chain reaction (PCR) Polymorphic loci gene fragments, and its digestion, according to the results of digestion calculated the phenotype frequency of each allele, χ2 test and OR value analysis of the relationship between polymorphisms and endometriosis . Results There were significant differences in genotype and allele frequencies of CYP17 between case group and control group (P <0.05). The CYP1A2 genotype and allele frequency in case group and control group had no significant difference (P> 0.05). Conclusion CYP17 T-34C may be related to the risk of endometriosis stage III and IV. CYP1A2 G-2964A polymorphism may not be an independent risk factor for endometriosis.