武汉地区汉族人群MTHFR基因多态性的分布研究  

MTHFR polymorphism among the Hans in Wuhan

作　　者：蒋捷[1] 王富乾[1] 马浩然[1] 胡磊[1] 马良鹏 张耕[1] JIANG Jie WANG Fu-qian MA Hao-ran HU Lei MA Liang-peng ZHANG Geng(Wuhan First Hospital, Wuhan 43002)

机构地区：[1]武汉市第一医院药学部,武汉430022

出　　处：《中南药学》2017年第1期57-60,共4页Central South Pharmacy

摘　　要：目的研究湖北武汉地区汉族人群中的亚甲基四氢叶酸还原酶MTHFR(C677T)基因型及等位基因的频率分布特征。方法应用基因芯片测序技术对319名(181名男性,138名女性)湖北武汉地区汉族人群进行MTHFR(C677T)基因多态性分析,将结果与文献报道的其他地区及不同民族进行比较,并比较本地区不同性别间基因多态性的差异。结果 319位武汉地区汉族人群中C等位基因频率为56.74%,T等位基因频率为43.26%;其中MTHFR 677TT纯合突变基因型高于哈尔滨,低于河南、延边、深圳,其基因型的分布与延边地区的差异具有统计学意义(P<0.01),与哈尔滨、河南、深圳地区的差异无统计学意义(P>0.05);不同民族间、基因型的分布与鄂伦春、鄂温克、壮族、布依族、苗族、回族、蒙族地区的差异具有统计学意义(P<0.05),与达斡尔、朝鲜族、维族的差异无统计学意义(P>0.05);在不同性别间,武汉地区汉族男性人群中C等位基因频率为59.57%,T等位基因频率为40.33%;女性人群中C等位基因频率为52.90%,T等位基因频率为47.10%,其性别差异不具有统计学意义(P>0.05)。结论 MTHFR(C677T)基因多态性分布在不同地区、不同民族间差异具有统计学意义,但在不同性别中差异不具有统计学意义。Objective To identify the genotype distribution of methylenetetrahydrofolate reductase （MTHFR） C677T among the Hans in Wuhan. Methods Gene chip sequencing technology was used. The genotype distributions and allele frequencies of MTHFR C677T of 319 samples （181 males and 138 females） from Wuhan were tested and compared with those of other areas and nations. Results The allele frequencies of MTHFR C677T were 56.74% and 43.26% in all samples, with 59.57% and 40.33% in the males, and 52.90% and 47.10% in the females. Compared with those of other regions and nations, the frequencies of MTHFR 677TT genotypes of Wuhan were higher than Harbin and lower than Henan, Yanbian and Shenzhen. The regional distribution of gene polymorphisms showed a statistical difference with that in Yanbian （P 〈 0.01）, but no statistical difference with that in Harbin, Henan and Shenzhen （P 〉 0.05）. The national distribution of gene polymorphisms showed a statistical difference with that in Oroqen, Evenki, Zhuang, Bouyei, Miao, Hui and Mongol ethnic minority （P 〈 0.01）, but no difference with that in Daur, Korean and Uygurs （P 〉 0.05）; It showed no statistically difference in gender as well （P 〉 0.05）. Conclusion The polymorphism of MTHFR C677T exhibits regional heterogeneity and national difference, but no difference in gender.

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 等位基因 区域差异性 民族 性别 

分 类 号：R394[医药卫生—医学遗传学]