贵州省汉族、布依族女性MTHFR和MTRR基因多态性研究及与其他地区人群比较  

Study on MTHFR and MTRR SNP gene polymorphisms among Han and Buyi females in Guizhou Province and their comparison with populations in other areas

作　　者：渠巍[1] 梁璐[1] 文春蓉 鲁衍强 汤萍 胡季芳 杨琦[3] QU Wei;LIANG Lu;WEN Chunrong;LU Yanqiang;TANG Ping;HU Jifang;YANG Qi(Department of Clinical Laboratory,Guiyang Municipal Maternal and Child Health Care Hospital,Guiyang,Guizhou 550003,China;Shanghai Zhangjiang Puhui Translational Medicine Research Institute,Shanghai 201210,China;Maternal and Child Health Care Center,China Center for Disease Control and Prevention,Beijing 100081,China)

机构地区：[1]贵阳市妇幼保健院检验科,贵阳550003 [2]上海张江普汇转化医学研究院,上海201210 [3]中国疾病预防控制中心妇幼保健中心,北京100081

出　　处：《重庆医学》2019年第22期3831-3836,共6页Chongqing medicine

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-334)

摘　　要：目的调查贵州省汉族、布依族育龄女性叶酸代谢关键酶MTHFR(C677T、A1298C),MTRR(A66G)基因多态性,为叶酸营养增补方案提供分子医学理论依据,更好地指导孕期保健。方法选取2017年12月至2019年1月在贵州省妇幼保健院进行备孕及孕期检查的女性作为研究对象,共计3090人(其中汉族2719人、布依族371人)。采集并提取研究对象口腔黏膜上皮脱落细胞,抽提DNA,利用荧光定量PCR方法检测并分析受检者MTFHR(C677T、A1298C)和MTRR(A66G)基因分型情况。结果贵州省汉族、布依族育龄女性MTFHR(C677T、A1298C)位点基因型和等位基因频率比较,差异有统计学意义(P<0.05),风险基因型MTFHR 677CT,677TT基因型频率汉族女性高于布依族女性;贵州省汉族、布依族的叶酸代谢关键酶MTHFR(C677T、A1298C)、MTRR(A66G)位点基因型和等位基因频率与其他地区汉族及少数民族相比(吉林、山东、湖北、广东、云南等地),差异有统计学意义(P<0.05)。结论贵州省汉族与布依族育龄女性叶酸代谢关键酶基因位点多态性不同于其他地区,具有地域特异性,可以有针对性地制订符合当地民族特征的个性化叶酸补服方案。Objective To survey the folic acid metabolism key enzymes MTHFR(C677T,A1298C)and MTRR(A66G)gene polymorphisms among child-bearing age Han and Buyi females in Guizhou Province in order to provide the molecular medical theoretical basis for folic acid nutritional supplement scheme and better guiding the pregnant health care.Methods A total of 3090 females conducting the pregnant preparation and pregnancy examination in the Guizhou Provincial Maternal and Child Health Care Hospital from December 2017 to January 2019 were selected as the study subjects,including 371 Buyi women and 2719 Han women.The oral mucosa epithelial exfoliative cells were collected and extracted for extracting DNA.The typing situation of MTHFR(C677T,A1298C)and MTRR(A66G)genes was analyzed by using fluorescent quantitative PCR.Results The genotype and allele frequency of MTHFR(C677T,A1298C)locus had statistical difference between the Han and Buyi child-bearing age females in Guizhou Province(P<0.05).The genotype frequency of risk gene type MTFHR 677CT,677TT in the Han females was higher than that in the Buyi females;The genotype and allele frequency of MTHFR(C677T,A1298C)and MTRR(A66G)loci had statistical differences between the Han and Buyi females of Guizhou Province with the Han and minorities in other areas(Jilin,Shandong,Hubei,Guangdong,Yunnan,etc.)(P<0.05).Conclusion The polymorphisms of folic acid metabolism key enzymes gene loci among Han and Buyi women in Guiyang Province are different from others areas,have the regional specificity.Therefore the personalized folic acid supplement scheme conforming to the national characteristics in local place can be targetedly formulated.

关 键 词：贵州布依族 5 10-亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 

分 类 号：R173[医药卫生—妇幼卫生保健]