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目的:探讨雌激素受体β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-限制性内切酶片段长度多态性(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β基因rs1256064和rs1256049SNPs位点的基因型,应用SPSS12.0分析基因多态性与子宫肌瘤的相关性。结果:病例组与对照组人群2个SNPs的基因型分布均符合Hardy-W e inberg平衡定律;rs1256064位点的等位基因及基因型的频数在病例组和对照组间的分布差异有统计学意义(P<0.05),rs1256049位点的基因型频数在病例组和对照组间的分布差异无统计学意义,而等位基因的频数分布差异有统计学意义(P<0.05)。结论:雌激素受体β基因rs1256064位点基因多态性可能与中国北方汉族人群子宫肌瘤相关联。
Objective: To investigate the relationship between estrogen receptor β gene polymorphism and uterine fibroids in Han population in northern China. Methods: The gene of rs1256064 and rs1256049 SNPs of estrogen receptor β gene in 167 patients with uterine fibroids and 170 healthy women were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Type, application SPSS12.0 analysis of gene polymorphisms and uterine fibroids correlation. Results: The distribution of genotypes of two SNPs in case group and control group were in accordance with the Hardy-Weinberg equilibrium law. The frequencies of alleles and genotypes in rs1256064 locus were statistically different between the case group and the control group (P <0.05). There was no significant difference in genotype frequency between rs1256049 locus and control group (P <0.05). Conclusion: The rs1256064 polymorphism of estrogen receptor β gene may be associated with uterine fibroids in Han population in northern China.