摘要
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.
作者
陈幽攸
任小群
李亚萍
李华云
CHEN You-You;REN Xiao-Qun;LI Ya-Ping(Department of Pharmacy,Affiliated Hospital of Southwest Medical University,Luzhou,Sichuan 646000,China)
出处
《中国妇幼保健》
CAS
2020年第1期87-90,共4页
Maternal and Child Health Care of China
基金
西南医科大学附属医院科研课题资助(2017-PT-12)
关键词
亚甲基四氢叶酸还原酶
单核苷酸多态性
同型半胱氨酸
复发性流产
Methylenetetrahydrofolate reductase
Single nucleotide polymorphism
Homocysteine
Recurrent spontaneous abortion