孕激素受体基因多态性与子宫肌瘤易感性的关系

目的：研究孕激素受体（PR）基因多态性与子宫肌瘤易感性的关系。方法：以单核苷酸多态性位点作为遗传标记，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，检测165例中国汉族子宫肌瘤患者（病例组）和157例非子宫肌瘤健康女性（对照组）PR基因rs1145460位点的基因型。应用拟合优度χ² 检验分析基因型频数分布是否符合Hardy-Weinberg平衡定律；利用SPSS 12.0统计软件分析等位基因和基因型分布与子宫肌瘤的关系。结果：病例组与对照组rs1145460位点基因型频数均符合Hardy-Weinberg平衡定律（P>0.05）；病例组与对照组rs1145460位点基因型（C/C、C/T、T/T）和等位基因（C、T）频数分布比较差异均无显著性（P>0.05）。结论：PR基因rs1145460位点多态性可能与中国北方汉族人群子宫肌瘤发病无关。

Association between polymorphism of PR gene and susceptibility of uterine leiomyomas

Objective To investigate the genetic association between the polymophism of progesterone receptor(PR) gene and susceptibility of uterine leiomyomas.Methods The method of PCR-RFLP was conducted to examine the genotypes of rs1145460 site of PR gene in 165 patients with uterine leiomyomas and 157 healthy women of Han descent.Hardy-Weinberg equilibrium for genotypic distribution was tested using the Chi-square (χ2) goodness-of-fit test.SPSS12.0 was applied to analyze the association between allelic gene and genotypic distribution and uterine leiomyomas.Results The genotypic frequency distribution of rs1145460 was not deviated from Hardy-Weinberg equilibrium in both patient group and control group (P>0.05).The genotypic(C/C,C/T and T/T)and allelic(C and T)frequencies of rs1145460 site had no significant difference between patient and control groups (P>0.05).Conclusion The polymorphism of rs1145460 site of PR gene may be not associated with the pathogenesis of uterine leiomyoma in Han women from north china.