不良孕产史与MTHFR基因677和1298位点多态性的相关性

摘要

Objective: To explore the relationship between the methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C polymorphism and unhealthy gravidity history. Methods:Fifty-three women with unhealthy gravidity history and fifty-seven controls were genotyped for MTHFR gene C677T and Al 298C polymorphism using sequencing technique. Results; In the control group, there was 3 of 677T/T genotype and 9 of 677C/T genotype meanwhile 1 298A/C genotype;in the experiment group,there was 9 of 677T/T genotype and 18 of 677C/T genotype meanwhile 1 298A/C genotype. There was an obvious difference between the ex periment and the control group in the frequency 677T/T genotype,and 677C/T genotype with 1 298A/C genotype (P < 0.05). Conclusion: MTHFR C677T and Al 298C mutation allele may be related to the increased risk of unhealthy gravidity history.%目的:探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T和A1 298C的基因多态性与不良孕产史之间的相关性.方法:选取53例曾有不良孕产史的女性和57例正常对照,应用DNA测序的方法检测MTHFR基因677位点和1 298位点的多态性,并对其多态性分布进行统计学分析,进而分析MTHFR基因与不良孕产史的发生之间的相关性.结果:在对照组中MTHFR基因677位点突变基因型T/T有3例(占5.3％),677位点基因型C/T同时存在1 298位点基因型A/C有9例(占15.8％)；在病例组中MTHFR基因677位点突变基因型T/T有9例(占17％),677位点基因型C/T同时存在1 298位点基因型A/C有18例(占34％)；经统计学分析在病例组和对照组中以上两种基因型之间均存在显著性差异(P＜0.05).结论:MTHFR基因677位点基因型T/T(即677TT)以及677位点基因型C/T同时存在1 298位点基因型为A/C(即677CT+1298AC)增加了不良孕产史的发生风险.