MDM2启动子309位点多态性与稽留流产关系的研究

Association between Murine Double Minute 2309 Polymorphism and Missed Abortion

目的探讨鼠双微体基因2(MDM2)启动子309位点单核苷酸多态性(SNP)与稽留流产的关系。方法对40例稽留流产妇女(研究组)的绒毛标本进行聚合酶链反应限制性片段长度多态性分析(PCR-RFLP),与40例健康早期妊娠妇女(对照组)的绒毛标本进行PCR-RFLP对照。结果根据显性基因模型计算,研究组T/T型占27.5%(11/40),T/G型+G/G型占72.5%(29/40),对照组分别为35.0%(14/40)、65.0%(26/40),两组基因型分布比较,差异无统计学意义(P>0.05)。根据隐性基因模型计算,研究组G/G型占32.5%(13/40),T/T型+T/G型占67.5%(27/40),对照组分别为12.5%(5/40)、87.5%(35/40),两组基因型分布比较,差异有统计学意义(P<0.05)。结论 MDM2 SNP309 G/G基因型与稽留流产的发病风险增加有关,其确切的分子机制有待进一步研究。

Objective To explore the association between single nucleotide polymorphism （SNP） of murine double minute 2（MDM2）-309 and missed abortion.Methods Genotyping of MDM 2 309 polymorphism was conducted by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） with villous samples collected from 40 women confirmed as missed abortion （study group） and from 40 healthy women with early pregnancy （control group）. Results Calculation was performed following a dominant genotype model ,and we found that T/T genotype accounted for 27.50%（11/40） in the study group,and T/G plus G/G genotypes accounted for 72.50%（29/40）,wherase in the control group,these figures were 35.0%（14/40） and 65.00%（26/40）,respectively.No significant difference was found between two groups in the distribution of genotypes （P〉0.05）.When calculation was performed based on a recessive genotype model,we found that G/G genotype accounted for 32.50%（13/40） in the study group,and T/T plus T/G genotypes accounted for 67.50%（27/40）,wherase in the control group,these figures were 12.50%（5/40） and 87.50%（35/40）,respectively.There was a significant difference in the distribution of genotypes between two groups （P〈0.05）.Conclusion The MDM2 SNP309 G/G genotype is associated with an increased risk of missed abortion.Further study on its molecular mechanism is warranted .