泸州汉族人群MTHFR基因多态性分布及育龄妇女该基因多态性与复发性流产相关性的研究

Study on the distribution of MTHFR gene polymorphism among Han population in Luzhou and the correlation between MTHFR gene polymorphism and recurrent spontaneous abortion in women of childbearing age

目的了解泸州市亚甲基四氢叶酸还原酶(MTHFR)基因多态性分布情况以及该单核苷酸多态性与复发性流产的相关性。方法选取2016-2018年在西南医科大学附属医院进行MTHFR基因检测的泸州汉族人群691例为研究对象,利用PCR-微阵列基因芯片法检测其C677T单核苷酸多态性,统计得出3种基因型的频率以及等位基因频率,并与全国其他地区已报道的多态性分布特征进行比较。结果泸州汉族人群CC、CT与TT基因型频率分别为39.2%、46.7%、14.0%,T等位基因频率为37.4%。其中女性T等位基因频率为38.1%,基因分布与纬度相近地区(N25°~31°)差异无统计学意义(P>0.05),与南方的海南、惠州及北方的西安、银川、赤峰、烟台人群差异有统计学意义(P<0.05)。在泸州育龄妇女中,复发性流产与MTHFR C677T基因多态性暂未发现存在直接关联。结论泸州地区汉族人群的MTHFR基因分布具有西南地区的分布特征,T等位基因频率整体呈现出随着纬度升高而升高的趋势。

Objective To investigate the correlations between MTHFR gene polymorphism distribution,methylenetetrahydrofolate reductase(MTHFR)gene single nucleotide polymorphism(SNP)and recurrent spontaneous abortion(RSA)in Luzhou.Methods A total of691 Han cases undergoing MTHFR gene detection in Affiliated Hospital of Southwest Medical University from 2016 to 2018 were selected from Luzhou as study object,PCR-microarray gene chip method was used to detect C677 T SNP,the frequencies of three genotypes and alleles were calculated,then the results were compared with C677 T polymorphism distribution characteristics reported in other areas in China.Results The frequencies of CC,CT,and TT genotypes were 39.2%,46.7%,and 14.0%,respectively,the frequencies of T allele was37.4%,the frequency of T allele among women was 38.1%,compared with the areas with similar latitude(N25°-31°),there was no statistically significant difference in frequency of gene distribution(P>0.05),compared with Hainan,Huizhou,Xi’an,Yinchuan,Chifeng,Yantai,there were statistically significant differences(P<0.05).Among the women of childbearing age in Luzhou,RSA was not directly correlated with MTHFR C677 T gene polymorphism.Conclusion The distribution of MTHFR gene among Han population in Luzhou has regional specificity,and the frequency of T allele shows an increasing trend with the latitude.