临床输血与检验2017，Vol.19Issue(6)：581-584,4.DOI:10.3969/j.issn.1671-2587.2017.06.015
安徽地区汉族孕妇人群MTHFR基因多态性研究
Polymorphism of MTHFR Among Pregnant Woman in Anhui Province
摘要
Abstract
Objective To investigate the genotype distribution of the methylenetetrahydrofolate reductase (MTHFR) C677T essential for the folic acid biosynthetic pathway among Chinese Han pregnant women in Anhui province, so as to provide pregnant women with guidance of supplementing folic acid. Methods By mean of PCR- chip hybridization method, 484 samples collected from Anhui province were detected the genotype distributions and allele frequencies of MTHFR C677T, then, the results were compared with published data in other 9 provinces of China. Results In Anhui Han pregnant women population,the CC,TC,and TT genotypic frequencies of SNP C677T were 25.2 % ,49.2 % and 25.6 %,respectively.Significant different of genotypic frequencies have been observed between Anhui women population and Shandong, Sichuan, Yunnan and Hainan women population (P<0.05). Conclusion The distributions of C677T in the MTHFR gene showed geographical variations. The polymorphisms of MTHFR may play a role in birth defects risk, thus, periconceptional folic acid supplementation and healthcare following gene polymorphism investigation may be a powerful measure to decrease congenital malformations.关键词
安徽地区/汉族女性人群/MTHFR/基因多态性Key words
Anhui province/Pregnant woman population/MTHFR/Gene polymorphism分类
医药卫生引用本文复制引用
汪波,范利平,史德宝,程筱雯,李洁,徐元宏..安徽地区汉族孕妇人群MTHFR基因多态性研究[J].临床输血与检验,2017,19(6):581-584,4.基金项目
本课题受国家自然基金(No. 81601446)、安徽省自然科学基金(No.1708085QH210)、安徽医科大学第一附属医院科研基金(No.3101005001238)资助 （No. 81601446）
