宝鸡市汉族人群MTHFR C677T、A1298C位点基因多态性分布特征  

MTHFR C677T and A1298C Gene Polymorphisms in Han Population of the Baoji City

作　　者：王华[1] 豆淑媛 党丽君 甄拴平 WANG Hua;DOU Shu-yuan;DANG Li-jun(Department of Laboratory,Baoji Hospital of Traditional Chinese medicine,Baoji Shaanxi 721001)

机构地区：[1]宝鸡市中医医院检验科,陕西宝鸡721001

出　　处：《医学临床研究》2023年第5期748-750,共3页Journal of Clinical Research

摘　　要：【目的】探讨宝鸡市健康体检人群叶酸代谢相关基因5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T及A1298C位点基因多态性分布特征。【方法】选取宝鸡市486例汉族女性和438例汉族男性为研究对象,检测所有研究对象MTHFR C677T、A1298C位点基因分布情况,并分析不同性别、地域基因多态性的分布特征。【结果】924例宝鸡市汉族人群MTHFR C677T位点CC、CT、TT基因型所占比例分别为22.0%、47.2%、30.8%;MTHFR A1298C位点AA、AC、CC基因型所占比例分别为67.4%、26.6%、6.0%。宝鸡市男性汉族、女性汉族体检人群MTHFR C677T、A1298C位点多态性分布情况比较,差异均无统计学意义(P>0.05)。【结论】宝鸡市汉族健康人群MTHFR C677T位点多态性分布不受性别影响,但具有一定的地域特点,在进行个性化临床诊疗、健康管理时应将遗传因素作为重点因素之一纳入评估内容。【Objective】To explore the distribution characteristics of genetic polymorphism in the folate metabolism related genes 5,10-Methylenetetrahydrofolate Reductase(MTHFR)C677T and A1298C locus in the health examination population of the Baoji City.【Method】A total of 486 Han women and 438 Han men in the Baoji City were selected as the study subjects.The distribution of MTHFR C677T and A1298C loci genes in all study subjects was detected,and the distribution characteristics of gene polymorphism in different genders and regions were analyzed.【Results】The proportions of CC,CT,and TT genotypes at the MTHFR C677T locus in the 924 Han population in the Baoji City were 22.0%,47.2%,and 30.8%,respectively;The proportions of AA,AC,and CC genotypes at the MTHFR A1298C locus were 67.4%,26.6%,and 6.0%,respectively.There was no statistically significant difference in the distribution of MTHFR C677T and A1298C polymorphisms between male and female Han population in the Baoji City(P>0.05).【Conclusion】The distribution of MTHFR C677T polymorphism in healthy Han population in the Baoji City is not affected by gender,but has certain regional characteristics.Genetic factors should be included as one of the key factors in personalized clinical diagnosis,treatment,and health management.

关 键 词：汉族 叶酸/代谢 基因表达 多态现象 遗传 

分 类 号：R544.1[医药卫生—心血管疾病]