胱硫脒β合酶基因多态性与神经管畸形的关系研究

Study on genotypes of cystathionine beta synthase in neural tube defects

为确定神经管畸形发生是否与某些基因突变有关,利用扩增阻碍突变系统(am plificationrefractory m utation system ,ARMS)法对40例神经管畸形(NTDs)儿母亲和36例正常儿母亲的胱硫脒β合酶(cystathionine beta-synthase,CBS)的2个常见突变位点(第919位及第833位)核苷酸进行基因多态性分析。结果显示NTDs组和对照组G919A的纯合突变率分别为35% 和33% ,二者差异无显著性(P> 0.05);T833C的纯合突变率分别为20% 和8% ,二者差异亦无显著性(P> 0.05)。

Mildly elevated maternal plasma homocysteine(Hcy)levels(hyperhomocysteinemia)have recently been observed in some neural tube defects(NTDs)pregnancies.The aetiology of NTDs is also known to have both genetic and nutritional components.The frequency of two relatively common mutations in the enzyme of cystathionine β synthase(CBS),which is one of the main enzymes that controls Hcy level, was examined.Among 76 nonpregnant women in the study,40 of whom had given birth to infants with NTDs and 36 control women previously had normal offspring.The results showed that no significant difference was found between NTDs mothers and non NTDs mothers for the frequency of T 833 C and the G 919 A mutations in the CBS gene.The data suggests that the mother's genotype is not the direct factor involved in the pathogenesis of NTDs.