摘要
目的通过对呼伦贝尔市阿荣旗育龄汉族女性叶酸代谢关键酶5,10-亚甲基四氢叶酸还原酶(MTHFR)(C677T,A1298C)、甲硫氨酸合成酶还原酶(MTRR)(A66G)基因多态性分布特征进行研究,并与已报道的其他地区样本进行比较,初步了解研究对象叶酸代谢能力,为指导当地孕期叶酸保健提供一定的参考依据。方法入组人群为2017年间在该院进行孕期体检的育龄汉族女性428人,采集并提取口腔黏膜上皮脱落细胞DNA,利用荧光定量PCR方法检测并分析受检者MTFHR(C677T,A1298C)和MTRR (A66G)位点基因型与等位基因频率,通过与其他已报道研究群体进行比较,获得阿荣旗地区汉族女性上述基因位点多态性分布特征。结果阿荣旗汉族女性MTHFR C677T、A1298C位点基因型与等位基因频率与其他已报道地区比较,差异具有统计学意义(P<0. 01),其中MTHFR 677TT基因型频率明显高于宁夏银川、江苏苏州、湖南湘潭、云南昆明、广西南宁、海南琼海等地,低于河南乡新。结论内蒙古自治区呼伦贝尔市阿荣旗地区汉族女性叶酸代谢关键酶基因位点多态性特征与其他部分已报道地区比较具有一定的差别,本研究结果可为当地制定孕期个性化叶酸补服提供一定参考依据。
Objective To research the distribution characteristics of folic acid metabolic key enzymes MTHFR C677 T,A1298 C and MTRR A66 G gene polymorphisms in Han women of childbearing age in Arun Banner of Hulunbeir,compare with the data reported in other areas,preliminarily understand folic acid metabolic capability of the study object,provide a certain reference basis for directing gestational folic acid health care in Arun Banner. Methods A total of 428 Han women of childbearing age receiving prenatal physical examination in Arun Banner Municipal Maternal and Child Health Care Hospital in 2017 were selected,DNA of oral mucosal epithelial exfoliative cells was collected and extracted. Fluorescent quantitative PCR was used to detect and analyze the frequencies of genotypes and alleles of MTFHR( C677 T,A1298 C) and MTRR( A66 G),then the results were compared with the data reported in other areas to obtain distribution characteristics of polymorphisms of above-mentioned genes in Han women in Arun Banner of Inner Mongolia. Results There were statistically significant differences in the frequencies of MTHFR C677 T and A1298 C genotypes and alleles between Han women of childbearing age in Arun Banner of Inner Mongolia and other areas( P<0. 01),the frequencies of MTHFR 677 TT genotypes in Han women of childbearing age in Arun Banner of Inner Mongolia was statistically significantly higher than those in Han women in Yinchuan,Suzhou,Xiangtan,Kunming,Nanning,and Qionghai,which were lower than that in Xinxiang of He’nan. Conclusion There is a certain difference in gene polymorphisms of folic acid metabolic key enzymes between Han women of childbearing age in Arun Banner of Inner Mongolia and the data reported in other areas,the study result can provide a certain reference basis for personalized folic acid supplementation during pregnancy.
作者
陈丽
乔彩云
孔令菊
鲁衍强
王宏
胡季芳
杨琦
CHEN Li;QIAO Cai-Yun;KONG Ling-Ju(Arun Banner Municipal Maternal and Child Health Care Hospital,Hulunbeir,Inner Mongolia 162750,China)
出处
《中国妇幼保健》
CAS
2019年第3期605-608,共4页
Maternal and Child Health Care of China
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-0345)
作者简介
通讯作者:王宏,E-mail:wanghong@genechina.com.
