基于盘锦地区259例孕妇MTHFR基因多态性与不良妊娠结局相关性分析

Analysis of the correlation between MTHFR gene polymorphism of 259 pregnant women and their adverse pregnancy outcomes in Panjin area

目的:分析盘锦地区妊娠期孕妇MTHFR基因多态性与不良妊娠结局的相关性。方法:选取2018年10月-2020年10月于本院就诊的既往有不良妊娠结局史孕妇124例为观察组,无不良妊娠结局史孕妇135例为对照组。行Hardy-weinberg平衡检验验证两组标本的群体代表性和可靠性,检测两组MTHFR基因基因型,比较组间基因型频率、等位基因频率和联合基因型频率。结果:Hardy-weinberg平衡检验表明收集的人群样本基因型频率分布达到遗传平衡,为同一孟德尔群体结果。观察组C677T位点TT频率(32.3%)高于对照组(13.3%),A1298C位点CC频率(12.1%)高于对照组(2.2%);观察组C677T等位基因T位点频率(51.6%)高于对照组(30.4%),A1298C等位基因C位点频率(28.2%)高于对照组(16.3%);观察组携带CC/CC、CT/CC、TT/AA和TT/AC联合基因型频率均高于对照组(均P<0.05)。结论:MTHFR基因多态性与不良妊娠发生有一定相关性,在备孕人群中筛查MTHFR基因多态性并早期干预,对降低不良妊娠、预防出生缺陷具有十分重要意义。

Objective: To analyze the correlation between MTHFR gene polymorphism of pregnant women and their adverse pregnancy outcomes in Panjin area of Liaoning province.Methods: 124 women with a history of adverse pregnancy outcomes were selected in observation group, and 135 women without a history of adverse pregnancy outcomes were selected were selected in control group from October 2018 to October 2020.Hardy Weinberg equilibrium test was used to verify the representativeness and reliability of the samples of the women in the two groups.MTHFR genotypes of the women in the two groups were detected, and the genotype frequency, allele frequency and combined genotype frequency of the women were compared between the two groups.Results: Hardy Weinberg equilibrium test showed that the genotypic frequency distribution of the collected population samples of the women in the two groups had reached genetic equilibrium, and all of them were the same Mendelian population.TT frequency of C677 T site(32.3%) of the women in the observation group was significantly higher than that(13.3%) of the women in the control group.CC frequency of A1298 C site(12.1%) of the women in the observation group was significantly higher than that(2.2%) of the women in the control group.T locus frequency of C677 T allele(51.6%) of the women in the observation group was significantly higher than that(30.4%) of the women in the control group, and C locus frequency of A1298 C allele of the women in the observation group was significantly higher than that(28.2%) of the women in the control group.The frequencies of CC/CC, CT/CC, TT/AA and TT/AC combined genotype of the women in the observation group were significantly higher than those of the women in the control group(all P<0.05).Conclusion: MTHFR gene polymorphism is related to the occurrence of adverse pregnancy.Screening MTHFR gene polymorphism and early intervention are of great significance to reduce the incidence of adverse pregnancy and prevent birth defects.