PCR-RFLP及HRM技术研究CYP19、COMT基因多态性与子宫内膜异位症和子宫腺肌病的关系  

PCR-RFLP and HRM technique to study the relationship between CYP19,COMT gene polymorphisms and endometriosis and adenomyosis

作　　者：郭光红[1] 李攀[2] 刘顺振 刘晶晶[2] 刘志慧[1] 

机构地区：[1]滨州医学院附属医院妇产科,滨州256603 [2]滨州医学院烟台附属医院妇产科 [3]烟台牟平李建口腔诊所

出　　处：《滨州医学院学报》2015年第6期408-411,共4页Journal of Binzhou Medical University

基　　金：滨州医学院科技计划(BY2012KJ14)

摘　　要：目的探讨CYP19 240A/G、COMT 1947G/A位点基因多态性与滨州地区汉族妇女子宫内膜异位症(endometriosis,EMs)及子宫腺肌病(adenomyosis,AM)发病的关系。方法应用聚合酶链反应—限制性片段长度多态性(PCR-restriction fragment length polymorphism,PCR-RFLP)技术和高分辨率溶解曲线(high resolution melting,HRM)分析技术分别检测EMs、AM患者和对照组CYP19 240A/G、COMT 1947G/A位点基因多态性与EMs及AM发病的关系。结果CYP19240A/G位点各基因型及等位基因分布频率在EMs组、AM组和对照组相比差异均有统计学意义(P<0.05),其中等位基因G突变EMs、AM发病风险增加,携带AG和GG基因型的患者EMs、AM发病风险增加。COMT 1947G/A位点各基因型及等位基因分布频率在EMs组、AM组和对照组相比无统计学差异(P>0.05),携带A等位基因突变的基因型GA+AA分别与野生型GG相比无统计学差异(P>0.05),不能增加EMs及AM的发病风险。结论滨州地区汉族妇女CYP19 240A/G基因多态性增加EMs和AM发病风险,COMT 1947G/A基因多态性与EMs和AM发病风险无关。Objective To investigate the relationship between 240A/G COMT,1947G/A gene polymorphism and endometriosis（EMs）and adenomyosis（AM）in Binzhou Han population.Methods PCR-restriction fragment length polymorphism（PCRRFLP）and high resolution melting（HRM）were used to detect the relationship between 240A/G CYP19、1947G/A COMT in EMs,AM and control group.Results The distribution frequency of 240A/G CYP19 loci in the EMs group,the AM group and the control group were statistically significant（P〈0.05）.Among the patients with G mutation EMs,the risk of AM increased,and the risk of AM and EMs was increased by AG and GG genotype.The distribution frequency of 1947G/A COMT loci in the EMs group was not significantly different between AM and control groups（P〉0.05）,and the gene type GA＋AA with the A allele had no significant difference（P〉0.05）compared with wild type GG（P〉0.05）,which could not increase the risk of EMs and AM.Conclusion 240A/G CYP19 gene polymorphism of Han nationality in Binzhou region increased the risk of EMs and AM,and the 1947G/A COMT gene polymorphism was not associated with the risk of EMs and AM.

关 键 词：子宫内膜异位症 子宫腺肌病 CYP19 COMT 基因多态性 

分 类 号：R711.71[医药卫生—妇产科学]