论文部分内容阅读
目的探讨中国南方汉族妇女孕激素受体(progesterone receptor,PR)基因第8外显子区G886G(rs500760)位点单核苷酸多态性(single nucleotide polymorphism,SNP)与子宫内膜异位症(endometriosis,Ems)遗传易感性的相关性。方法收集同期经手术病理证实的431例Ems患者(Ems组)和499例无Ems的妇女(对照组)外周血,采用荧光定量PCR为基础的高分辨率熔解曲线分析(High Resolution Melting,HRM)技术检测PR基因G886G位点SNP,通过病例对照研究评估SNP和Ems的相关性。结果 Ems组和对照组PR G886G位点等位基因A、G分布分别为79.1%、20.9%和79.4%、20.6%,基因型AA、AG、GG分布分别为61.7%、34.8%、3.5%和61.3%、36.1%、2.6%,两组等位基因及基因型分布差异均无统计学意义(P=0.899和0.705)。结论中国南方汉族妇女PR G886G位点多态性与Ems遗传易感性无明显关联。
Objective To investigate the relationship between single nucleotide polymorphism (SNP) of G886G (rs500760) in exon 8 of progesterone receptor (PR) gene and endometriosis in southern Chinese Han women. (endometriosis, Ems) genetic susceptibility. Methods 431 patients with Ems (Ems group) and 499 women without Ems (control group) were enrolled in this study. High resolution Melting (HRM) was performed based on real-time fluorescence quantitative PCR. The technique was used to detect the SNP of G886G site of PR gene. The correlation between SNP and Ems was evaluated by a case-control study. Results The allele A, G of PR G886G locus in Ems group and control group were 79.1%, 20.9% and 79.4%, 20.6% respectively, and the distributions of AA, AG and GG were 61.7%, 34.8% and 3.5% 61.3%, 36.1% and 2.6% respectively. There was no significant difference in allele and genotype distribution between the two groups (P = 0.899 and 0.705). Conclusion There is no significant correlation between the genetic polymorphisms of PR G886G and the susceptibility to Ems in Han Chinese women in South China.