摘要
目的针对新余市汉族女性开展分子流行病学调查,研究叶酸代谢关键酶甲硫氨酸合成酶还原酶(MTRR)和5,10-亚甲基四氢叶酸还原酶(MTHFR)的基因多态性分布。方法以孕期保健的521名汉族健康女性为研究对象,采集口腔黏膜上皮脱落细胞,提取基因组DNA,使用荧光定量PCR方法检测MTHFR C677T、A1298C和MTRR A66G基因多态性,进行统计分析。结果(1)入组对象的基因多态性分布符合遗传平衡。(2)汉族女性MTHFR 677CC、CT、TT的基因型频率分别为38.6%、47.6%、13.8%,C、T等位基因频率分别为62.4%、37.6%;MTHFR 1298AA、AC、CC的基因型频率分别为65.1%、31.9%、3.07%,A、C等位基因频率分别为81.0%、19.0%;MTRR 66AA、AG、GG的基因型频率分别为60.3%、35.1%、4.61%,A、G等位基因频率分别为77.8%、22.2%。(3)汉族女性MTHFR C677T和A1298C两位点连锁有7种组合,频率最高的是CT/AA(30.5%),没有TT/AC和TT/CC组合。两位点间存在完全连锁不平衡(D’=1.0,r2=0.124)。结论获取新余市汉族女性MTHFR和MTRR基因多态性的群体遗传学特征,其中关键基因位点MTHFR C677T的高风险TT基因型比例为13.8%,低于已报道的山东淄博、河南新乡、辽宁沈阳等地,高于广东佛山市,说明叶酸利用能力中等,对于高风险人群还需加强孕期管理,同时本研究也为当地人群进行个体化增补叶酸提供理论依据。
Objective:To carry out a molecular epidemiological investigation on Han women in Xinyu City,and to study the gene polymorphism distribution of key enzymes folate metabolism MTHFR and MTRR.Methods:A total of 521 healthy Han women during pregnancy were taken as research objects.Oral epithelial exfoliated cells were collected,genomic DNA was extracted,and MTHFR C677T,A1298C,and MTRR A66G gene polymorphisms were detected by fluorescent quantitative PCR for statistical analysis.Results:(1)The genetic polymorphism distribution of the subjects was in line with genetic balance.(2)The genotype frequencies of MTHFR 677CC,CT,and TT for Han women were 38.6%,47.6%,and 13.8%,and the C and T allele frequencies were 62.4%and 37.6%,respectively.The genotypes of MTHFR 1298AA,AC,and CC were:The frequencies were 65.1%,31.9%,3.07%,and the frequencies of the A and C alleles were 81.0%and 19.0%,respectively.The genotype frequencies of MTRR 66AA,AG,and GG were 60.3%,35.1%,and 4.61%,respectively.The G allele frequencies were 77.8%and 22.2%,respectively.(3)There are 7 combinations of two-point linkage between MTHFR C677T and A1298C for Han females.The highest frequency is CT/AA(30.5%).There is no TT/AC and TT/CC combination.There is a complete linkage disequilibrium between the two points(D’=1.0,r^2=0.124).Conclusion:Obtain the population genetic characteristics of MTHFR and MTRR gene polymorphisms of Han women in Xinyu City,of which the key gene locus MTHFR C677T has a high-risk TT genotype ratio of 13.8%,lower than that reported in Zibo,Shandong,Xinxiang,Shenyang,Liaoning,etc.It is higher than Foshan City in Guangdong,indicating that the folic acid utilization capacity is moderate,and the management of high-risk groups needs to be strengthened during pregnancy.At the same time,this study also provides a theoretical basis for the local population to personally supplement folic acid.
作者
杨琳
邵军晖
丁娇
简皓
陈雪梅
胡林娣
邓权权
鲁衍强
胡季芳
YANG Lin;SHAO Junhui;DING Jiao;JIAN Hao;CHEN Xue-mei;HU Lin-di;DENG Quan-quan;LU Yan-qiang;HU Ji-fang(Xinyu Maternal and Child Health Care Hospital,Xinyu,338025;Shanghai Zhangjiang Puhui Institute of Translational Medicine,Shanghai 201314)
出处
《中国优生与遗传杂志》
2020年第7期789-790,799,共3页
Chinese Journal of Birth Health & Heredity
基金
中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(FY-ZX-ZD-0401)
