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目的讨论崇州市汉族女性5,10-亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)、甲硫氨酸合成酶还原酶(methionine synthase reductase,MTRR)基因频率的多态性特征,以指导孕期女性增补叶酸和出生缺陷一级的预防。方法选取崇州市790名汉族女性为研究对象,检测MTHFR C677T、A1298C和MTRR A66G基因分型,统计分析基因频率的多态性,并与其他17个地区汉族女性数据进行统计比较。结果崇州市汉族女性MTHFR 677 CT基因型频率与眉山市(35.1%)、荆州市(38.8%)、昆明市(39.1%)相比,差异无统计学意义(P>0.05);MTHFR 1 298 AC基因型频率与眉山市(65.4%)、乌鲁木齐市(67.2%)、镇江市(69.1%)、荆州市(64.7%)、昆明市(65.3%)相比,差异无统计学意义(P>0.05);MTRR 66 AG基因型频率仅与琼海市(47.5%)相比,差异有统计学意义(P<0.05)。结论崇州市汉族女性MTHFR和MTRR基因频率的多态性不同于其他地区,具有地域特异性。
Objective To discuss the polymorphism of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene frequencies in Han women in Chongzhou to guide Prevention of folic acid and birth defects in women during pregnancy. Methods A total of 790 Chinese Han women in Chongzhou were selected as the research objects. Genotypes of MTHFR C677T, A1298C and MTRR A66G were detected. The polymorphism of gene frequencies was statistically analyzed and compared with the data of other Han women in 17 regions. Results There was no significant difference in MTHFR 677 CT genotype among Han women in Chongzhou and Meishan (35.1%), Jingzhou (38.8%) and Kunming (39.1%) (P> 0.05) There was no significant difference in the genotype frequency between Meishan (65.4%), Urumqi (67.2%), Zhenjiang (69.1%), Jingzhou (64.7%) and Kunming (65.3%) ). The frequency of MTRR 66 AG genotype was only significantly different from that of Qionghai (47.5%) (P <0.05). Conclusion The genetic polymorphisms of MTHFR and MTRR in Han nationality in Chongzhou are different from other regions and are region specific.