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目的研究武汉地区353例体检者亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)C677T基因多态性的分布。方法采用PCR-芯片杂交法检测2015年4-8月武汉大学人民医院体检中心353例体检者MTHFR C677T基因型。根据体检者的性别和年龄特征分析MTHFR C677T基因型和等位基因频率分布特点,并与其他地区汉族健康体检人群的数据进行比较。结果体检人群MTHFR 677CC、677CT、677TT基因型频率分别为36.3%(128/353)、48.4%(171/353)和15.3%(54/353),677T等位基因频率为39.5%。男性和女性体检者的MTHFR C677T基因型分布差异无统计学意义(P=0.802)。不同年龄组(除年龄70~岁组外)中,677CT基因型均为优势基因型,所占比例分别为年龄~30岁组47.9%、30~岁组43.2%、50~岁组55.7%。各年龄组间的MTHFR C677T基因型分布差异无统计学意义(P=0.120)。与北京和青岛地区健康体检人群相比,武汉地区MTHFR C677T基因型和等位基因频率分布差异有统计学意义(P<0.05)。结论武汉地区353例体检者MTHFR C677T基因多态性分布不受性别和年龄的影响,但具有地域特异性。
Objective To investigate the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in 353 pregnant women in Wuhan. Methods PCR-chip hybridization was used to detect MTHFR C677T genotype in 353 subjects from April to August 2015 in Wuhan Medical Center. The frequency distribution of MTHFR C677T genotypes and alleles was analyzed according to the sex and age characteristics of the subjects and compared with the data of Han nationality health examination population in other regions. Results The frequencies of MTHFR 677CC, 677CT and 677TT were 36.3% (128/353), 48.4% (171/353) and 15.3% (54/353), respectively. The frequency of 677T allele was 39.5%. There was no significant difference in the MTHFR C677T genotype between male and female subjects (P = 0.802). The genotypes of 677CT were dominant genotypes in different age groups (except for the age group of 70 ~ 70 years old), accounting for 47.9% of the age group of 30 years old, 43.2% of the group aged 30 ~ 55.7% and 50.7 years group. There was no significant difference in the distribution of MTHFR C677T genotype among all age groups (P = 0.120). Compared with healthy physical examination population in Beijing and Qingdao, the frequencies of MTHFR C677T genotypes and alleles were significantly different in Wuhan (P <0.05). Conclusion The distribution of MTHFR C677T polymorphism in 353 cases in Wuhan is not affected by sex and age, but it is regionally specific.