MTHFR基因A1298C多态性与神经管畸形的关系

The relationship between the polymorphism of MTHFR A1298C and neural tube defects

目的:分析神经管畸形患儿核心家庭MTHFR基因第1298位点的多态性分布,探讨其与神经管畸形发生的关系。方法:应用PCR扩增技术,其扩增产物经限制性核酸内切酶MboⅡ消化后,进行非变性聚丙烯酰胺凝胶电泳,分析MTHFR基因第1298位核苷酸基因型的分布情况。结果:26个核心家庭中(78个成员)未发现突变纯合型。经χ2检验,患儿及其母亲基因型构成与对照组比较,差异均无统计学意义(分别为P>0.30,P>0.90)。患儿父亲杂合突变型低于正常对照(P<0.05)。等位基因频率比较采用u检验,患儿与对照间差异无统计学意义(P>0.50),患儿父母均高于正常对照(P<0.01)。结论:MTHFR基因A1298C多态性与神经管畸形发生无直接关系。

Objective:To explore the re lationship between the polymorphism of MTHFR A1298C and neural tube defects (NTDs).Methods:The amplified products by PCR was digested with the re-stric tion enzyme MboⅡ,followed by gel electrophosis analyses on a20%polyacrylam ide,to detect the polymorphism of the1298th nucleotide of MTHFR in26NTDs nuclear families.Results:No homozy-gotes were found in both the nuclear fam ilies and the control groups.The ratios of genotypes was nei-ther different b etween the patients and the controls,nor between the mothers and the controls (÷ 2-test,P>0.30,P>0.90,respectively).The proportion of heterozy gotes in the father was lower than that in the control(÷ 2-test,P<0.05).The allele frequency of the1298C was not differen t between the patients and the controls(u-test,P>0.05)but higher in t he parents than that in the controls(u-test,P<0.01).Conclu-sion:Ther e is no correlation between the genetic polymorphism of the1298th nucleotide of MTHFR and neural tube defects.