776例育龄妇女不同同型半胱氨酸水平叶酸代谢关键酶基因多态性分布的调查分析  

776 cases of childbearing age women of different level of homocysteine investigation and analysis of folic acid metabolism key enzyme gene polymorphism distribution

作　　者：马国海 周峰英 

机构地区：[1]浙江省绍兴市中医医院检验科 [2]浙江省绍兴市计划生育宣传技术指导站,浙江绍兴321000

出　　处：《中国优生与遗传杂志》2015年第8期29-31,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的调查分析不同水平同型半胱氨酸(Hcy)育龄妇女的叶酸代谢关键酶基因多态性的分布情况。方法将绍兴地区776例血浆同型半胱氨酸异常水平(>15μmol/L)的育龄妇女作为观察组,对其叶酸代谢通路4个关键酶的基因多态性进行分型,同时选取同一地区同一时间点的766例血浆同型半胱氨酸正常水平(≤15μmol/L)的育龄妇女作为对照组,并运用统计软件对其分布特点进行统计分析。结果两组MTHR中的C677T和A1298C位点,MTRR的A66G和A56C位点,其基因型分布频率存在显著性差异(P<0.05),其它关键酶的基因型分布不具有统计学差异。结论不同同型半胱氨酸水平育龄妇女叶酸代谢关键酶基因多态性分布存在着差异,高风险基因的突变是引起育龄妇女Hcy升高的原因之一。Objective：To investigate and analyze the different levels of homocysteine（Hcy）of folic acid metabolism key enzyme gene polymorphism distribution of women of childbearing age.Methods：776 cases of plasma homocysteine（〉15μmol/L）in Shaoxing area of abnormal level of women of childbearing age as the observation group,genotyping of polymorphisms were the folic acid metabolic pathway and the 4 key enzymes,and selecting 766 Cases with plasma from the same area of the same point in time of homocysteine is Chang Shuiping（≤15μmol/L）women of childbearing age as control group,and use the distribution characteristic analysis of statistical software.Results：Two sets of MTHR C677 T and A1298 C loci of A66 G,MTRR and A56 C loci,there are significant differences in the genotype frequency distribution（P〈0.05）,the other key enzyme genotype distribution does not have the difference of statistics. Conclusion：Different levels of homocysteine in women of childbearing age of folic acid metabolism key enzyme gene polymorphism distribution exist difference,the high risk gene mutation is one of the reasons that cause the increase of Hcy in women of childbearing age.

关 键 词：同型半胱氨酸 叶酸代谢关键酶 基因多态性 育龄妇女 

分 类 号：R440[医药卫生—诊断学]