ERα PvuⅡ基因多态性与芜湖地区汉族女性卵巢子宫内膜异位囊肿的相关性研究

Association of estrogen receptor alpha PvuⅡ polymorphism with ovarian endometriosis in the Han population from Wuhu area

目的:探讨ERαPvuⅡ基因多态性与芜湖地区汉族女性卵巢子宫内膜异位囊肿遗传易感性的关系。方法:采用酚氯仿法提取60例卵巢子宫内膜异位症病人的卵巢巧克力囊肿壁组织(病例组)和56例非子宫内膜异位症增生期或分泌期子宫内膜组织(对照组)的DNA,聚合酶链反应-限制性片段长度多态分析(PCR-RFLP)分别对60例病例组和56例对照组进行基因分型比较。结果:ERαPvuⅡ多态性基因型频率在病例组为PP:9(15.0%)、Pp:33(55.0%)、pp:18(30.0%);在对照组分别依次为11(19.6%)、23(41.1%)、22(39.3%),经分析两组无统计学差异(χ2=2.250,P=0.325),等位基因P、p频率在病例组和对照组分别为51(42.5%)、69(57.5%)和45(40.2%)、67(59.8%),经分析两组间分布无统计学差异(χ2=0.129,P=0.720)。结论:未能发现芜湖地区汉族女性ERαPvuⅡ基因多态性与卵巢子宫内膜异位囊肿的发病具有相关性。

To investigate the correlation of estrogen receptor alpha（ERα）PvuII genetic polymorphism with the susceptibility to ovarian endometriosis in the Han population of Wuhu area.Methods： The genomic DNA was extracted from 60 subjects with ovarian chocolate cyst wall of ovarian endometriosis（case group） and 56 samples in proliferative or secretory phase of non-endometriosis（control group）by saturated hydroxyl-benzene/chloroform.Genotype of the polymorphism of the ERα gene of all subjects were screened by polymerase chain reaction based restriction fragment length polymorphism（PCR-RFLP） for comparison.Results： The frequency of ERα PvuⅡpolymorphism was present with 15.0%（PP：9）,55.0%（Pp：33） and 30.0%（pp：18） in the case group and 19.6%（11）,41.1%（23）and 39.3%（22） in the controls,respectively.No statistical difference was found regarding PP,Pp and pp genotypic frequency between the two groups（χ2=2.250,P=0.325）.Allele P and p type were seen with the frequency of 51（42.5%） and 69（57.5%） in the case group and 45（40.2%） and 67（59.8%） in the controls,respectively,which showed no significant difference（χ2=0.129,P=0.720）.Conclusion： ERαPvuⅡ genetic polymorphism appears no association with the ovarian endometriosis in the Han population living in Wuhu,Anhui province.