温州地区2743例育龄女性MTHFR C677T基因多态性分析  

Analysis of MTHFR C677T gene polymorphism in 2743 women of childbearing age in Wenzhou region

作　　者：林煊 吴昊 徐雪琴 李焕铮 唐少华 LIN Xuan;WU Hao;XU Xueqin;LI Huanzheng;TANG Shaohua(Prenatal Diagnosis Center,Wenzhou Central Hospital,Wenzhou,Zhejiang 325000,China)

机构地区：[1]温州市中心医院产前诊断中心,浙江温州325000

出　　处：《中国优生与遗传杂志》2024年第3期593-596,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的 分析温州地区育龄女性亚甲基四氢叶酸还原酶(MTHFR)C667T基因多态性及其地区遗传分布特征,为临床科学指导育龄女性补充叶酸提供遗传依据。方法 选取2021年8月至2023年11月到温州市中心医院产科门诊进行孕前及孕期检查的温州地区育龄女性2743例,采用实时荧光定量PCR技术测定MTHFR C677T基因位点多态性。统计出MTHFRC677T基因多态性的基因型频率与等位基因频率,将温州地区育龄女性与文献报道的其他地区数据进行比较分析。结果 2743例育龄女性检测到MTHFR C677T基因多态性CC、CT及TT基因型频率分别为41.2%、43.9%和14.8%,等位基因C和T分别为63.2%和36.8%。与已报道四川省、贵州省贵阳市、江西省及浙江省绍兴市等地育龄女性相比差异无统计学意义,与广西壮族自治区南宁市、安徽省、浙江省杭州市、福建省莆田市、上海市、河北省廊坊市、江苏省苏州市、河南省郑州市、西藏自治区昌都市、河北省张家口市及湖北省武汉市相比则差异有统计学意义(P<0.05)。结论 温州地区育龄女性MTHFR C677T基因多态性分布具有地域特性。大约58.8%的育龄女性具有叶酸代谢障碍风险(CT型和TT型)。MTHFR基因突变检测可指导该地区育龄女性合理补充叶酸。Objective To analyze the genetic polymorphisms and regional genetic distribution of methylenetetrahydrofolate reductase(MTHFR)C677T among women of childbearing age in Wenzhou region,and to provide genetic basis for clinical scientific guidance on supplementing folic acid for women of childbearing age.Methods From August 2021 to November 2023,2743 women in Wenzhou region who underwent pregnancy and pre-pregnancy examination in the obstetric clinic of Wenzhou Central Hospital were selected.The genotype of MTHFR C677T was detected by PCR fluorescence quantitative detection method.The MTHFR C677T gene polymorphism among women of childbearing age in Wenzhou were analyzed statistically,then the results were compared with data of women in other regions had been reported in the literature.Results The frequencies of MTHFR C677T polymorphisms CC,CT and TT among women of childbearing age in Wenzhou region were 41.2%,43.9%and 14.8%,and the frequencies of alleles C and T were 63.2%and 36.8%.There was no significant difference compared with the reported women of childbearing age in Sichuan Province,Guiyang City of Guizhou Province,Jiangxi Province and Shaoxing City of Zhejiang Province,however,the difference was significant compared to Nanning City of Guangxi Zhuang Autonomous Region,Anhui Province,Hangzhou City of Zhejiang Province,Putian City of Fujian Province,Shanghai city,Langfang City of Hebei Province,Suzhou City of Jiangsu Province,Zhengzhou City of Henan Province,Changdu City of Xizang Autonomous Region,Zhangjiakou City of Hebei Province and Wuhan City of Hubei Province(P<0.05).Conclusion The distribution of MTHFR C677T gene polymorphism in women of childbearing age in Wenzhou region is regionally specific.About 58.8%of women of childbearing age in Wenzhou region have the risk of folate metabolism disorder(CT type and TT type).The detection of MTHFR gene mutation can guide women of childbearing age in this area to take supplementary folic acid reasonably.

关 键 词：温州地区 亚甲基四氢叶酸还原酶 基因多态性 

分 类 号：R714[医药卫生—妇产科学]