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目的:探讨雌激素受体α基因多态性与中国北方汉族人群子宫肌瘤的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测167例子宫肌瘤患者和170例健康女性的雌激素受体α基因rs722209和rs9322346 SNPs位点的基因型,应用SPSS 12.0分析基因多态性与子宫肌瘤的关联性。结果:病例组与对照组人群2个SNPs的基因型分布均符合Hardy-Weinberg平衡定律;病例组rs722209和rs9322346的等位基因及基因型的频数分布与对照组比较差异均无显著性(P>0.05)。结论:雌激素受体α基因rs722209和rs9322346基因多态性可能与中国北方汉族人群子宫肌瘤发病无关。
Objective: To investigate the relationship between estrogen receptor α gene polymorphism and uterine leiomyoma in Han population in northern China. Methods: The genotypes of rs722209 and rs9322346 SNPs of estrogen receptor alpha gene in 167 patients with uterine fibroids and 170 healthy women were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) , SPSS 12.0 analysis of genetic polymorphisms and uterine fibroids association. Results: The distribution of genotypes of two SNPs in case group and control group all accorded with Hardy-Weinberg equilibrium law. There was no significant difference in frequency distribution of allele and genotype between rs722209 and rs9322346 in case group and control group (P> 0.05). Conclusion: The rs722209 and rs9322346 polymorphisms of estrogen receptor α gene may not be related to the incidence of uterine fibroids in Han population of northern China.