兴安盟汉族和蒙古族女性MTHFR与MTRR基因的多态性分布

Study on the polymorphism distribution of MTHFR and MTRR genes in Han and Mongolian women of Xing’an League

目的 针对内蒙古兴安盟汉族和蒙古族女性开展分子流行病学调查,研究叶酸代谢关键酶MTHFR和MTRR的基因多态性分布。方法 以孕期保健的331例女性为研究对象,其中汉族221例、蒙古族110例。采集口腔黏膜细胞,提取人体DNA,采用荧光定量PCR方法检测MTHFR C677T/A1298C和MTRR A66G基因位点,并进行统计学分析比较。结果 入组对象的基因多态性分布符合遗传平衡。汉族女性MTHFR 677CC、CT及TT的基因型频率分别为17.2%、55.7%及27.1%,蒙古族女性为27.3%、50.9%及21.8%;汉族女性MTHFR 1298AA、AC及CC的基因型频率分别为75.6%、23.1%及1.36%,蒙古族女性为68.2%、30.9%及0.91%;汉族女性MTRR 66AA、AG及GG的基因型频率分别为48.9%、43.0%及8.14%,蒙古族女性为39.1%、50.0%及10.9%。汉族和蒙古族女性的基因型频率和等位基因频率差异均无统计学意义(均P>0.05)。汉族和蒙古族女性MTHFR C677T与A1298C两位点连锁有6种组合,频率最高的是CT/AA,没有CT/CC、TT/AC和TT/CC组合。两位点间存在完全连锁不平衡。结论 获取兴安盟汉族、蒙古族女性MTHFR和MTRR基因多态性的群体遗传学特征。

Objective To conduct a molecular epidemiological survey on Han and Mongolian women in Xing’an League, Inner Mongolia, and to study the genetic polymorphism distribution of key folate metabolism enzymes MTHFR and MTRR.Methods 331 people who took care of pregnancy during the study were selected, including 221 Han people and 110 Mongolian people.Collect oral mucosal cells, extract human DNA,and use fluorescence quantitative PCR to detect MTHFR C677 T/A1298 C and MTRR A66 G gene loci, and perform statistical analysis and comparison.Results The genetic polymorphism distribution of the enrolled objects was consistent with genetic balance.The genotype frequencies of MTHFR 677 CC,CT and TT of Han women are 17.2%,55.7% and 27.1%,and the Mongolian women are 27.3%,50.9% and 21.8%;the MTHFR 1298 AA,AC and CC genotypes of Han women The frequencies were 75.6%,23.1% and 1.36%,Mongolian women were 68.2%,30.9% and 0.91%;Han women genotype frequencies of MTRR 66 AA,AG and GG were 48.9%,43.0% and 8.14%,Mongolian Females were 39.1%,50.0% and 10.9%.There was no significant difference in genotype frequency and allele frequency between Han and Mongolian women(all P>0.05).There are 6 combinations of MTHFR C677 T and A1298 C in the Han and Mongolian women.The highest frequency is CT/AA,and there is no CT/CC,TT/AC and TT/CC combination.There is a complete chain imbalance between the two points.Conclusion The population genetic characteristics of MTHFR and MTRR gene polymorphisms of Han and Mongolian women in Xing’an League were obtained.