MSH5基因C85T多态性与卵巢早衰的相关性分析

Relationship between MSH5 gene C85T polymorphism and premature ovary failure

目的:探讨错配修复蛋白基因MSH5基因C85T多态性与卵巢早衰(premature ovary failure,POF)发病的关系。方法:应用PCR-限制性片段长度多态性(PCR-RELF)技术,对65例卵巢早衰患者(POF患者组)和66例健康对照者(对照组)MSH5基因C85T多态性进行分析,并随机抽取50%样本测序进行验证。结果:(1)正常对照组MSH5基因C85T多态性CC、CT、TT基因型频率分别为77.3%、19.7%、3.0%,POF患者组分别为80.0%、18.5%、1.5%;两组比较,差异无统计学意义(P>0.05);对照组等位基因C、T频率分别为87.1%、12.9%,POF患者组分别为89.2%、10.8%,两组比较,差异也无统计学意义(P>0.05)。(2)DNA测序结果与PCR-RELF结果完全一致。结论:MSH5基因C85T多态性与POF发病无关。

Objective To investigate the relationship between mismatch repair protein MSH5 gene C85T polymorphism and premature ovarian failure(POF).Methods The C85T polymorphism of MSH5 gene in 65 patients with POF(POF group) and 66 healthy volunteers(control group) were detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RELF),randomLy to select 50% samples to sequence.Results(1)The MSH5 gene C85T polymorphism genotype frequencies of CC,CT and TT were 77.3%,19.7% and 3.0% in normal control group,and were 80.0%,18.5% and 1.5% in POF group,respectively.There was no significant difference in the distribution of CC,CT and TT genotype between the two groups(P>0.05).The frequencies of the two alleles C and T were 87.1% and 12.9% in control group,and were 89.2% and 10.8% in POF group,respectively.There was also no significant difference in the frequency of C,T alleles between the two groups(P>0.05).(2) Sequence results were completely consistent with PCR-RELF results.Conclusion The MSH5 gene C85T polymorphism is not associated with the risk of POF.