【摘要】 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。更多还原

【Abstract】 Objective To investigate the association of the single nucleotide polymorphism(SNP) of progesterone receptor(PR) gene exon 8 region G886G(rs500760) site with the genetic susceptibility to endometriosis( Ems) in southern Han Chinese women. Methods Peripheral blood samples of 431 patients with endometriosis(Ems group) and 499 women with non-endometriosis(control group) were collected. All cases were confirmed by operation and pathology. The fluorescent quantitative PCR-based high resolution melting( HRM) method was used to evaluate the SNP of PR G886G site among all cases. Results The A and G of PR G886G allele frequencies were 79. 1%,20. 9% in the Ems group and 79. 4%,20. 6% in the control group,respectively. The AA,AG and GG of PR G886G genotype frequencies were 61. 7%,34. 8%,3. 5% in Ems group and 61. 3%,36. 1%,2. 6% in control group respectively. There were no statistically significant differences between the two groups,both in the PR G886G alleles distribution( P = 0. 899) and genotypes distribution(P = 0. 705). Conclusion There may be no association between the SNP of PR G886G and the genetic susceptibility of Ems in southern Han Chinese women.更多还原