摘要
目的调查乌鲁木齐市汉族人群叶酸代谢障碍关键酶基因5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸还原酶(MTRR)A66G位点基因多态性分布情况。方法随机以乌鲁木齐市216位汉族女性、206位汉族男性为研究对象,检测MTHFR C677T、A1298C及MTRR A66G基因位点多态性,采用统计学方法分析性别、地域与基因多态性分布特征的关系。结果乌鲁木齐的汉族女性MTHFR 677TT纯合突变基因型频率为24.1%,显著高于南方城市湘潭、眉山、南宁、琼海和惠州(P<0.05);MTHFR A1298C基因型分布情况与尚志、延边、廊坊、烟台地区的人群差异有统计学意义(P<0.05);MTRR A66G位点的基因型频率和等位基因频率与延边、廊坊、济源和镇江等地区比较差异有统计学意义(P<0.05)。结论乌鲁木齐市汉族女性与男性MTHFR、MTRR基因多态性分布无差异,该地区汉族女性的基因多态性频度分布具有地区特异性。
Objective To investigate the distribution characteristics of single nucleotide polymorphisms （SNPs） of folic acid pathway key enzymes-methylenetetrahydrofolate reductase （MTHFR） gene C677T, A1298C and methionine synthase （MTRR） gene A66G among Han population in Urumqi. Methods A total of 216 Han women and 206 Han men were randomly selected from Urumqi as study object, SNPs of MTHFR C677T , A1298C and MTRR A66G were detected, the relationships between gender, region, and distribution characteris- tics of SNPs were analyzed statistically. Results The frequency of MTHFR 677Tr homozygous mutation genotype among Han women in Uru- mqi was 24. 1%, which was statistically significantly higher than those in Xiangtan, Meishan, Nanning, Qionghai （P〈0. 05 ） . There was statistically significant difference in frequency of MTHFR A1298C genotype between Han population in Urumqi and Shangzhi, Yanbian, Langfang, Yantai （P〈0.05） . There were statistically significant differences in frequencies of MTRR A66G genotype and allele between Han population in Urumqi and Yanbian, Langfang, Jiyuan, Zhenjiang （P〈0. 05） . Conclusion There is no difference in SNPs of MTHFR and MTRR genes between Han women and Han men in Urumqi, the distribution frequencies of SNPs of MTHFR and MTRR among Han women in the region has regional specificity.
出处
《中国妇幼保健》
CAS
2016年第18期3772-3775,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-0038)
关键词
亚甲基四氢叶酸还原酶
甲硫氨酸合成酶还原酶
单核苷酸多态性
汉族
叶酸
Methylenetetrahydrofolate reductase
Methionine synthase reduetase
Single nucleotide polymorphism
Han nationality
Folic acid
