湖北省汉族人群MTHFRC677T基因多态性分析  

Polymorphism Analysis of MTHFRC677T Gene in Han Population in Hubei Province

作　　者：代依林 刘璐 丁文成 纪腾 DAI Yilin;LIU Lu;DING Wencheng;JI Teng(Department of Obstetrics and Gynecology,Affiliated Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China;Department of Pharmacy,Affiliated Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院妇产科,武汉430030 [2]华中科技大学同济医学院附属同济医院药学部,武汉430030

出　　处：《医药导报》2022年第10期1508-1512,共5页Herald of Medicine

摘　　要：目的探索叶酸代谢障碍相关基因位点5,10-亚甲基四氢叶酸还原酶(MTHFR)677单核苷酸多态性在湖北省汉族人群的分布情况,评估湖北省汉族人群叶酸代谢能力。方法采用聚合酶链反应(PCR)-芯片杂交法技术检测11830例健康体检者5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T位点基因多态性,并统计性别间基因型分布差异。结果湖北省汉族人群MTHFR 677位点上CC、CT和TT基因型频率分别为36.83%,47.92%和15.25%。MTHFR T677T基因型男性较女性占比高,但差异无统计学意义;MTHFR C677T位点等位基因频率,男女之间差异无统计学意义;各基因型频率>45岁与≤45岁比较之间差异无统计学意义;女性>45岁和≤45岁基因型频率差异有统计学意义(P=0.033)。湖北省汉族人群纯合突变基因型(TT)与云南省、浙江省、广东省、河南省、吉林省、北京市汉族人群差异有统计学意义(P<0.05)。结论湖北省汉族人群MTHFR基因多态性分布具有明显的地区特异性,并且不同年龄,不同性别的叶酸代谢水平也表现出一定的差异性,在补充叶酸时,应考虑MTHFR基因多态性的影响。Objective To explore the distribution of 5,10-methylenetetrahydrofolate reductase(MTHFR)677 single nucleotide polymorphism of folate metabolism disorder-related gene locus in Han population in Hubei Province and to evaluate the folate metabolism ability of the Han population in Hubei Province.Methods Polymerase chain reaction(PCR)-chip hybridization technique was used to detect the gene polymorphisms of MTHFR C677T locus in 11830 healthy subjects and the differences in genotype distribution between sexes were counted.Results The genotype frequencies of CC,CT,and TT at MTHFR C677T locus in the Han population in Hubei Province were 36.83%,47.92%,and 15.25%,respectively.The proportion of MTHFR T677T genotype in males was higher than that in females,but the difference was not statistically significant.There was no significant difference in allele frequency of MTHFR C677T locus between males and females.There was no significant difference in genotype frequency between over 45 years old and under 45 years old.There was a significant difference in genotype frequency between women over 45 years old and women under 45 years old(P=0.033).There were substantial differences in homozygous mutation genotype(TT)between Han population in Hubei Province and Han population in Yunnan Province,Zhejiang Province,Guangdong Province,Henan Province,Jilin Province,and Beijing(P<0.05).Conclusion The distribution of MTHFR gene polymorphism in Han population in Hubei Province has evident regional specificity.The folate metabolism levels of different ages and sexes also show certain differences.The influence of MTHFR gene polymorphism should be considered when supplementing folate.

关 键 词：亚甲基四氢叶酸还原酶(MTHFR)C677T 基因多态性 叶酸 湖北省汉族人群 

分 类 号：R394[医药卫生—医学遗传学]