830例育龄妇女MTHFR基因A1298C位点多态性研究  

Polymorphism of MTHFR gene A1298C locus in 830 women of childbearing age

作　　者：齐国昌 王春玮[1] QI Guochang;WANG Chunwei(Department of Laboratory,Qinghai Red Cross Hospital,Xining,Qinghai 810000,China)

机构地区：[1]青海红十字医院检验科,青海西宁810000

出　　处：《检验医学与临床》2024年第3期376-378,382,共4页Laboratory Medicine and Clinic

摘　　要：目的探讨育龄妇女5,10-亚甲基四氢叶酸还原酶(MTHFR)基因A1298C位点基因多态性与年龄及民族是否有关,为指导育龄期妇女进行叶酸补充提供参考。方法采集2019年1月至2023年4月在该院门诊进行孕前或孕期行优生健康检查的汉族及其他民族的育龄女性外周血标本830例。采用PCR荧光探针法检测MTHFR基因A1298C位点的多态性,进行各年龄段及不同民族人群间基因多态性位点基因型分布比较。结果830例育龄期妇女中,MTHFR基因A1298C位点AA、AC及CC基因型频率分别为69.64%、27.35%和3.01%;各年龄段育龄女性MTHFR基因A1298C位点的基因型和等位基因频数和频率分布情况进行比较,差异均无统计学意义(P>0.05);汉族与藏族、回族、土族及蒙古族育龄女性间的MTHFR基因A1298C位点的基因型和等位基因频数和频率分布情况比较,差异均无统计学意义(P>0.05)。结论育龄妇女MTHFR基因A1298C位点多态性与年龄及民族无关,但有不同于其他地区的MTHFR基因A1298C位点多态性分布特征。Objective To investigate whether the polymorphism of 5,10-methylenetetrahydrofolate reductase(MTHFR)gene A1298C locus is related to age and nationality in women of childbearing age,so as to provide reference for folate supplementation in women of childbearing age.Methods A total of 830 cases of peripheral blood samples of Han and other ethnic women of childbearing age who underwent eugenic health examination before or during pregnancy in the outpatient department of the hospital from January 2019 to April 2023 were collected.The PCR fluorescent probe was used to detect the polymorphism of MTHFR gene A1298C locus,and the genotype distribution of the polymorphism locus was compared among different age groups and different ethnic groups.Results The AA,AC and CC genotype frequencies at A1298C lucus of MTHFR gene were 69.64%,27.35% and 3.01% respectively,in 830 women of childbearing age.The differences of genotype,allele frequency and frequency distribution of MTHFR gene A1298C locus in women of childbearing age of all age groups were not statistically significant(P>0.05).There was no statistically significant differences in genotype,allele frequency and frequency distribution of MTHFR gene A1298C locus between Han and Tibetan,Hui,Tu and Mongolian women of childbearing age(P>0.05).Conclusion The polymorphism of MTHFR gene A1298C locus in women of childbearing age is not related to age or nationality,but the distribution characteristics of MTHFR gene A1298C locus are different from other regions.

关 键 词：亚甲基四氢叶酸还原酶 基因 育龄妇女 A1298C 基因多态性 民族 

分 类 号：R394[医药卫生—医学遗传学]