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目的评价孕酮受体基因内含子G插入306碱基对多态性(PROGINS)在子宫内膜异位症发病中的意义。方法2005-06-2006-06中国医科大学附属二院和解放军463医院将66例手术及组织学证实诊断的子宫内膜异位症患者和非子宫内膜异位症对照组56例,通过人末梢血提取白细胞DNA,PCR检测基因型分布频率及等位基因(野生型T1和突变型T2)频率。结果两组比较突变型T2基因型分布频率分别为子宫内膜异位症组0·14,对照组0·04,OR:4·54(95%CI:1·50-13·78),P=0·004。子宫内膜异位症组有2例纯突变型T2(3·0%)。结论PROGINS可能与子宫内膜异位症发病有关。
Objective To evaluate the significance of insertion of a progesterone receptor (IN) gene intronic G-insertion 306 base pair polymorphism (PROGINS) in the pathogenesis of endometriosis. Methods Sixty-six patients with endometriosis and non-endometriosis confirmed by operation and histology from the Second Affiliated Hospital of China Medical University and 463 Hospital of People’s Liberation Army were enrolled in the study. Leukocyte DNA was extracted from peripheral blood, and genotype frequency and allele frequencies (wild-type T1 and mutant T2) were detected by PCR. Results The distribution frequency of mutant T2 genotypes was 0.14 in endometriosis group, 0. 04 in control group, OR: 4.54 (95% CI: 1.50-13.78), P = 0 · 004. There were 2 cases of pure mutant T2 (3.0%) in endometriosis group. Conclusion PROGINS may be related to the pathogenesis of endometriosis.