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目的 探讨北方乡村妇女亚甲基四氢叶酸还原酶 (MTHFR)基因多态性与神经管畸形的关系。方法 用聚合酶链反应 -限制性片段的多态性 (PCR- RFL P)技术 ,检测 2 0例生育神经管畸形患儿 (NTDs)的妇女及 76例农村和 73例城市正常出生儿母亲的 MTHFR基因多态性。结果 MTHFR基因第 6 77位核苷酸呈多态性 ,可分为三种类型 :C/ C、C/ T、T/ T。病例组三种基因突变频率 :C/ C,5 % ;C/ T,5 0 % ;T/ T,45 %。城市对照组分别为 :C/ C,2 8.8% ;C/ T,5 4.8% ;T/ T,16 .4%。乡村对照组分别为 :C/ C,34 .2 % ;C/ T,46 .1% ;T/ T,19.7%。病例组 T/ T基因突变频率显著高于对照组 ,而城乡正常妇女 T/ T基因突变频率基本一致。结论 提示母亲 MTHFR基因突变与生育NTDs患儿有相关性。
Objective To investigate the relationship between MTHFR gene polymorphisms and neural tube defects in northern rural women. Methods The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect 20 women with NTDs and 76 rural and 73 normal urban mothers MTHFR gene polymorphism. Results The 677th nucleotide of MTHFR gene was polymorphic and could be divided into three types: C / C, C / T and T / T. Case group of three gene mutation frequency: C / C, 5%; C / T, 50%; T / T, 45%. The urban control groups were: C / C, 2 8.8%; C / T, 5 4.8%; T / T, 16.4%. The rural control groups were: C / C, 34.2%; C / T, 46.1%; T / T, 19.7%. The frequency of T / T gene mutation in case group was significantly higher than that in control group, while the frequencies of T / T gene mutation in urban and rural women were basically the same. Conclusions The MTHFR gene mutation in mothers is associated with children with NTDs.