MTHFR基因多态性与非综合征性唇腭裂的遗传易感性

A study on the association between MTHFR gene polymorphism and NSCL/P susceptibility

目的 探讨 MTHFR基因热敏感性多态性在非综合征性唇腭裂 (NSCL / P)发病以及遗传易感性中的作用。方法 应用聚合酶链反应 -限制性片段长度多态性 (PCR- RFL P)方法检测 MTH-FR热敏感性基因型 ;对 2 9个 NSCL / P核心家庭进行以父母为对照的病例对照研究 ,计算 TDT和HHRR;另外对该 2 9例 NSCL / P患儿及其父母和 5 8例正常儿童及其父母进行了成组病例对照研究 ,分别计算 MTHFR热敏感性纯合突变对 NSCL / P的比值比。结果 核心家庭分析显示 TDT(χ2 ) =3.5 6 ,P >0 .0 5 ,HHRR(成组χ2 ) =1.6 9,P >0 .0 5 ;患儿及其母亲、父亲 MTHFR热敏感性纯合突变对 NSCL / P的相对危险度 OR值分别为 0 .72、1.11和 0 .75 ,P >0 .0 5。结论 MTHFR基因热敏感性多态性可能不是 NSCL /

Objective To investigate the effect of MTHFR thermolabile polymorphism on genetic susceptibility of NSCL/P in north China population. Methods MTHFR genotypes were determined by PCR RFLP, 29 NSCL/P nuclear families were analyzed through case parental control study, from which transmitted disequilibrium test (TDT) and haplotype based haplotype relative risk (HHRR) were calculated; 29 NSCL/P cases and 58 controls with their parents were analyzed OR of homozygous MTHFR. Results ①Nuclear family analysis showed: TDT (χ 2)= 3.56 , P>0.05, HHRR (paired χ 2)=1.69, P>0.05; ②Homozygotic mutant of MTHFR in cases vs controls: OR=0.72 (95%CI 0.28～1.89), P>0.05 and that in case mothers vs control mothers: OR=1.11 (95%CI 0.37～3.29), P>0.05; ③There was no significant difference about the frequency of mutational allele between case parents and control parents. Conclusions These results did not indicate linkage disequilibrium in NSCL/P nuclear families, nor did they indicate increased risk for NSCL/P among children and their parents homozygous for the C677T genotype.