摘要
目的探索昆明地区妊娠期妇女亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性的空间分布特征,为昆明地区出生缺陷防控工作提供参考依据。方法回顾性分析2019—2020年昆明地区6004例妊娠期妇女亚甲基四氢叶酸还原酶基因C667T多态性检测结果,采用Arc GIS 10.4软件及SPSS 23.0统计学软件进行空间特征探究。结果检出野生型(CC型)2306例,占38.41%;杂合突变型(CT型)2814例,占46.87%;纯合突变型(TT型)884例,占14.72%。野生型在安宁市、五华区、石林彝族自治县分布较广;杂合突变型在西山区、盘龙区、呈贡区分布较广;纯合突变型在东川区、宜良县、安宁市分布较广。结论昆明市部分县区妊娠期妇女亚甲基四氢叶酸还原酶基因C677T多态性存在差异,应对育龄及妊娠早期女性进行亚甲基四氢叶酸还原酶基因C677T多态性检测,个性化补充叶酸,预防出生缺陷及相关孕期疾病。
Objective To explore the spatial distribution characteristics of methylenetetrahydrofolate reductase C677T polymorphism in pregnant women and to provide reference for the prevention and control of birth defects in Kunming. Methods A retrospective analysis of 6004 pregnant women in Kunming from 2019 to 2020 was performed on the polymorphism detection results of methylenetetrahydrofolate reductase C667T. Arc GIS 10.4 software and SPSS 23.0 software were used to explore the spatial characteristics. Results 2306 cases of wild type(CC) were detected, accounting for 38.41%.2814 cases of Heterozygous mutant type(CT)(46.87%). Homozygous mutant(TT) was found in 884 cases(14.72%). Wild type is widely distributed in Anning, Wuhua and Shilin Yi Autonomous County. The heterozygous mutant is widely distributed in Xishan, Panlong and Chenggong. Homozygous mutant is widely distributed in Dongchuan, Yiliang and Anning. Conclusion There are differences in the polymorphism of methylenetetrahydrofolate reductase C677T among pregnant women in some districts of Kunming City. It is necessary to detect the polymorphism of methylenetetrahydrofolate reductase C677T in women of childbearing age and early pregnancy, and to provide personalized folic acid supplement to prevent birth defects and related pregnancy diseases.
作者
邱爱君
何建萍
戴镇涛
苏虹
张蕾
罗胜军
吕梦欣
唐健
QIUAijun;HE Jianping;DAI Zhentao;SUHong;ZHANG Lei;LUO Shengjun;LYUMengxin;TANG Jian(Department of Cardiology^The First People's Hospital of Yunnan Province^Kunming^Yunnan 650034,China;Department of Medical Genetics and Prenatal Diagnosis,Kunming City Maternal and Child Health Hospital,Kunming,Yunnan 650031,China;School of Business Administration,The College of Arts and Sciences Kunming,Kunming,Yunnan 650221,China)
出处
《中国优生与遗传杂志》
2021年第11期1569-1572,共4页
Chinese Journal of Birth Health & Heredity
基金
昆明市卫生科技人才培养项目“十百千”工程培养计划(2020-SW(后备)-98)
云南省科技厅科技计划项目(202001BA070001-111)
云南省生殖妇产疾病临床医学中心开放课题(2020LCZXKF-SZ19)。
关键词
亚甲基四氢叶酸还原酶
妊娠期妇女
叶酸
出生缺陷
methylenetetrahydrofolate reductase(MTHFR)
pregnant women
folic acid
birth defects
作者简介
通讯作者:吕梦欣,L_mengxin@126.com;通讯作者:唐健,455617023@qq.com;共同第一作者:邱爱君;共同第一作者:何建萍。
