亚甲基四氢叶酸还原酶677C→T突变与不明原因反复流产相关性研究

The study on the relationship between the methylenetetrahydofolate reductase 677C→T mutation and unexplained recurrent pregnancy loss.

目的 探讨亚甲基四氢叶酸还原酶 (MTHFR) 6 77C→T突变与不明原因反复流产之间的相关性。方法 采用聚合酶链反应———限制性片段长度多态性 (PCR RFPL)的方法 ,通过病例对照研究 ,对 6 2例有两次及两次以上不明原因流产史的病例 (按不同流产时间分为早期流产组和晚期流产组 ) ,与 119例健康者对照进行MTHFR的检测。结果 早期流产组中MTHFR不同突变型的分布与对照组有显著差异 (χ2 =8 15 4,P <0 0 5 ) ,纯合突变型频率 (11/ 32 ,34 37% )明显高于对照组 (2 3/ 119,19 33% ) [OR =2 186 ,95 %CI(0 92 5 -5 16 5 ) ],杂合突变型频率 (16 / 32 ,5 0 0 0 % )与对照组相比 (5 3/ 119,44 5 4% )未发现有显著差异 [OR =1 2 45 ,95 %CI (0 5 70 - 2 72 0 ) ];T等位基因频率 (0 5 937)与对照组 (0 415 9)相比有显著性差异 (χ2 =13 89,P <0 0 0 5 )。而晚期流产组MTHFR不同突变型的分布与对照组无显著差异 (χ2 =1 490 ,P >0 0 5 )。结论 MTH FR 6

Objective To explore the association between genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) and unexplained recurrent pregnancy loss (URPL).Methods 62 women with two or more unexplained pregnancy loss were studied and 119 healthy women with at least one successful pregnancy and no history of pregnancy loss served as control.The study group was subdivided into first trimester fetal loss (≤14 weeks) and second trimester fetal loss (14.28 weeks) group.MTHFR 677C→T genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RRLP).Results The frequencies of MTHFR 677C→T mutation in 32 patients with first timester fetal loss were significantly different from that in controls (χ 2=8.154,P<0.05).The TT homozygous genotype (11/32,34.37%) was significantly more frequent than that in control subjects (12/119,19.23%) (OR=2.186,95%CI[0.925-5.165]).No apparent difference was observed in the TC heterozygous genotype between the cases ( 16/32,50.00%) and controls (53/119,44.54%) (OR=1.245,95%CI[0.570-2.720]).The T allele frequency in study group (0.5937) was significantly different from that in controls (0.4159)(χ 2=13.89,P<0.005).In 30 patients with second timester fetal loss,there was no association between fetal loss and genotype (χ 2=1.496,P>0.05) or T allele frequency (χ 2=0.246,P>0.75).Conclusion These data suggest that MTHFR 677C→T homozygous genotype mutation is a risk predictor in women with a history of early recurrent pregnancy loss.