MTHFR基因多态性与法洛四联症的相关性研究

摘要

目的 探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与法洛四联症(TOF)的关系.方法 选择136例TOF患儿(观察组)和277例健康儿童(对照组),应用PCR-限制性片段长度多态性结合直接测序法对两组MTHFR基因C677T位点多态性进行检测,分析两组基因型频率分布及各基因型与TOF的关系.采用SPSS13.0软件对数据进行分析.结果 MTHFR基因C677T突变基因型TT在观察组发生率显著高于对照组,P＜0.05(x2=11.89);T等位基因携带者患TOF的风险高于C等位基因携带者(OR=0.553,95％ CI为0.412 3 ～0.741 4).结论 MTHFR基因多态性与TOF存在明显相关性,MTHFR基因可能是TOF的遗传易感基因.%Objective To investigate the association between polymorphism of 5, 10-methylenetentrahydrofolate (MTHFR) gene and tetralogy of fallot (TOF). Methods One hundred and thirty-six children with TOF (observed group)and two hundred seventy-seven healthy children were selected, the C677T polymorphism of MTHFR gene was detected with polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing. The distribution of genotype frequency and allele frequency were analyzed. The relationship of different genotypes and alleles at C677T polymorphism site with the risk of TOF were compared in 2 groups. SPSS13. 0 software was used to analyze the data. Results The TT distribution of genotype frequency at C677T polymorphism site in the observed group was significantly higher than that in thecontrol group, P <0. 05 ( = 11. 89) ; The relative risk for TOF in T allele carriers was higher than that in C allele carriers (OR =0. 553, 95% CI: 0. 412 3-0. 741 4). Conclusions The polymorphism of MTHFR gene is associated with TOF, MTHFR gene may be the genetic susceptibility gene of TOF.