荧光定量PCR检测郑州地区汉族人群MTHFR C677T位点多态性分析  

Analysis on the MTHFR C677T Polymorphism in Han Population in Zhengzhou Detected by Fluorescent Quantitative PCR

作　　者：张华[1] 刘敏[1] 袁路[1] 姬亚星 张富青[1] ZHANG Hua;LIU Min;YUAN Lu;JI Yaxing;ZHANG Fuqing(Department of Reproductive Genetics,Zhengzhou Maternal and Child Health Hospital,Zhengzhou 450012,China)

机构地区：[1]郑州市妇幼保健院生殖遗传科,河南郑州450012

出　　处：《临床医学工程》2025年第4期431-434,共4页Clinical Medicine & Engineering

基　　金：河南省医学科技攻关计划联合共建项目(项目编号:LHGJ20230759)。

摘　　要：目的通过郑州地区汉族人群MTHFR C677T基因多态性的分子流行病学分析,了解本地区人群叶酸代谢能力基因遗传学背景,为科学指导叶酸补充提供遗传学依据。方法利用荧光定量PCR方法对6552例郑州汉族人群MTHFR C677T位点进行基因分型。查阅文献,对郑州地区与我国南北方其他地区数据进行比较分析。结果郑州地区MTHFR C677T位点主要以CT基因型和T等位基因为主,占比分别为46.0%、62.3%。郑州地区TT基因型与T等位基因频率仅低于石家庄,而高于南方地区的桂林、漳州、温州、徐州、桃园、南宁,也明显高于北方地区的新疆吉昌、鄂尔多斯、秦皇岛、北京、兰州、枣庄,差异均具有统计学意义(P<0.05)。结论郑州地区汉族人群叶酸代谢障碍整体风险较高,应对有需求的人群进行MTHFR C677T位点基因分型,制定个体化的叶酸增补方案。Objective To understand the genetic background of folate metabolism in the Han population of Zhengzhou through molecular epidemiological analysis of the MTHFR C677T gene polymorphism,and to provide a genetic basis for the scientific guidance of folate supplementation.Methods Fluorescence quantitative PCR was used to genotype the MTHFR C677T locus in 6552 Han individuals from Zhengzhou.Literature was reviewed,and data from Zhengzhou were compared and analyzed with those from other regions in the north and south of China.Results The MTHFR C677T locus in Zhengzhou was predominantly characterized by the CT genotype and T allele,accounting for 46.0%and 62.3%,respectively.The frequency of the TT genotype and T allele in Zhengzhou was only lower than that in Shijiazhuang,but higher than those in southern regions such as Guilin,Zhangzhou,Wenzhou,Xuzhou,Taoyuan,and Nanning,and also significantly higher than those in northern regions including Xinjiang Jichang,Ordos,Qinhuangdao,Beijing,Lanzhou,and Zaozhuang,with statistical differences(P<0.05).Conclusions The overall risk of folate metabolic disorders is relatively high among the Han population in Zhengzhou.Genetic typing of the MTHFR C677T locus should be conducted for individuals in need,and personalized folic acid supplementation plans should be formulated.

关 键 词：汉族人群 MTHFR C677T 多态性 

分 类 号：R1[医药卫生—公共卫生与预防医学]