亚甲基四氢叶酸还原酶基因多态性与先天神经管缺陷的相关性研究  

MTHFR gene polymorphism and neural tube defect: A correlation study

作　　者：张洁琼 徐东萍[2] 

机构地区：[1]宁波市鄞州区人民医院妇产科,浙江宁波315040 [2]浙江省新昌县人民医院妇产科,浙江新昌312500

出　　处：《中国现代医生》2014年第13期16-18,共3页China Modern Doctor

基　　金：浙江省医药卫生科技计划项目(2013kyd272)

摘　　要：目的研究亚甲基四氢叶酸还原酶基因多态性与红细胞叶酸浓度的关系。方法采用PCR法对育龄女性5 128例进行亚甲基四氢叶酸还原酶基因多态性分析,并分别给予早孕者400μg、800μg叶酸口服补充1个月,比较干预前后红细胞叶酸浓度。结果纯合CC型早孕受试者口服400μg叶酸1个月后平均红细胞叶酸浓度与口服800μg叶酸者相比较,差异无统计学意义(P>0.05);突变基因型CT型、TT型早孕受试者差异则均具有统计学意义(P<0.05)。结论对育龄妇女开展MTHFR基因多态性检测有利于指导补充叶酸剂量,值得临床进一步研究。Objective To investigate the correlation of MTHFR gene polymorphism and neural tube defect. Methods A total of 5128 cases of fertile woman were selected,and MTHFR gene polymorphism was detected with polymerase chain reactionrestriction fragment length polymorphism（PCR-RFLP）. The early pregnant women of the same genotype were di- vided randomly and given different doses of folacin（400 μg or 800 μg） for a month, and the level of erythrocyte folacin was analyzed. Results For comparisons of the same genotype accepted different dose of folacin supplement, CC genotype groups resulted in no significant difference （P〉0.05）, and CT, TT genotype groups resulted in significant differences（P 〈0.05）. Conclusion The MTHFR gene polymorphism investigation aimed to guiding the folacin supplement for fertile women deserves further clinical application.

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 叶酸 神经管缺陷 

分 类 号：R722.1[医药卫生—儿科]