MTHFR基因多态性与不良妊娠的相关性研究

Study on the correlation between MTHFR gene polymorphism and adverse pregnancy

目的:研究亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C两位点的多态性与不良妊娠的相关性。方法:收集有过不良妊娠结局的妇女84例为病例组,选取正常妊娠妇女87例为对照组。应用基因组DNA提取、PCR-RFLP技术对MTHFR基因C677T和A1298C多态性进行分型,并运用统计软件对分布特点进行分析。结果:两组C677T和A1298C基因型频率和等位基因频率分布比较,差异均有统计学意义(P<0.05),且病例组两位点的分布频率高于对照组,差异有统计学意义(P<0.05)。与C677T的CC型相比,CT型、TT型和CT+TT型会增加发生不良妊娠的风险;与A1298C的AA型相比,CC型和AC+CC型会增加发生不良妊娠的风险;两位点联合突变基因型中,与纯合野生型组合CC/AA相比,携带CT/AA、CT/CC、TT/AA和TT/AC的突变基因型会增加发生不良妊娠的风险。结论:MTHFR基因多态性对不良妊娠的发生有重要影响,是不良妊娠发生的遗传易感性因素,携带突变等位基因会增加发生不良妊娠的风险。

Objective. To research the correlation between C677T and A1298C polymorphisms of MTHFR gene and adverse pregnancy. Methods, Eighty -four pregnant women with adverse pregnancy outcome history were collected as case group, and 87 normal pregnant women were selected as control group; genomic DNA was abstracted, genotyping of C677T and A1298C polymorphisms of MTHFR genewas conducted by PCR - RFLP ;the characteristics of distribution were analyzed by statistical software. Results There were statistically significant differences in the frequencies of C677T and A1298C genotypes and alleles between the two groups （P 〈0. 05 ） . The frequencies ofdistribution of C677T and A1298C loci in case group were statistically significantly higher than those in control group （P 〈 0. 05 ） . Com-pared with CC genotype of C677T locus, CT genotype, TT genotype and CT ＋ TF genotype increased the risk of adverse pregnancy; comparedwith AA genotype of A1298C locus, CC genotype and AC ＋ CC genotype increased the risk of adverse pregnancy; among the genotypes ofcombined mutation of C677T and A1298C loci, compared with homozygous wild -type CC/AA genotypes, CT/AA, CT/CC, IT/AA andTY/AC genotypes increased the risk of adverse pregnancy. Conclusion： MTHFR gene polymorphism has important impact on the occurrenceof adverse pregnancy, which is a genetic susceptibility factor of adverse pregnancy. Carrying mutant allele may increase the risk of adversepregnancy.