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目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点多态性与早期妊娠丢失风险的关系。方法采用PCR-限制性片段长度多态性(PCR-RFLP)方法检测232例妊娠13~(+6)周之内曾有不良孕史及先兆流产史的患者(病例组)和369例孕前检查的正常妇女(对照组)MTHFRC677T基因多态性。结果不良孕史及先兆流产史患者MTHFRC677T位点3个基因型多态性与对照组有显著性差异(x~2=37.768,P<0.05);与CC基因型个体相比,TT基因型的个体发生早期妊娠丢失的风险高达3.596倍(OR=3.596,95%CI:2.232~5.794),CT基因型的个体发生早期妊娠丢失的风险为3.277倍(OR=3.277,95%CI:2.137~5.026)。病例组T等位基因频数分布显著高于C等位基因频数分布(57.1%vs.40.1%,x~2=33.094,P<0.05,OR=1.988,95%CI:1.571~2.517)。结论 MTHFR C677T突变可能是早期妊娠丢失的遗传易感性因素。
Objective To investigate the relationship between polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene C677T and the risk of loss of early pregnancy. Methods PCR-RFLP was used to detect 232 pregnant women with history of adverse pregnancy and threatened abortion (case group) and 369 pre-pregnancy examinations within 13 to (+6) weeks of gestation Of normal women (control group) MTHFRC677T gene polymorphism. Results There were significant differences in the genotypes of MTHFRC677T locus between the three genotypes (x ~ 2 = 37.768, P <0.05) and the genotype TT genotype The risk of early pregnancy loss was 3.596 times (OR = 3.596, 95% CI: 2.232-5.794) in individuals with a CT genotype of 3.277 times the risk of early pregnancy loss (OR = 3.277, 95% CI: 2.137-5.026 ). The distribution of T allele in case group was significantly higher than that in C allele (57.1% vs. 40.1%, x ~ 2 = 33.094, P <0.05, OR = 1.988, 95% CI: 1.571-2.517). Conclusions MTHFR C677T mutation may be the predisposing factor of early pregnancy loss.