MTHFR C677T和A1298C基因多态性的生物信息学分析  

Bioinformatics analysis of MTHFR C677T and A1298C gene polymorphisms

作　　者：贺婵婵 郭爱红 吴曼玲 李宝宝 李珊 加艳 王丙聚 HE Chanchan;GUO Aihong;WU Manling;LI Baobao;LI Shan;JIA Yan;WANG Bingju(Department of Neurology VIP 1 ward,Xianyang Hospital of Yan’an University,Xianyang,Shaanxi 712000,China;Neurological Intensive Care Unit,Xianyang,Shaanxi Hospital of Yan’an University,Xianyang,Shaanxi 712000,China;Department of Neurology 13 Ward,Xianyang Hospital of Yan’an University,Xianyang,Shaanxi 712000,China)

机构地区：[1]延安大学咸阳医院神经内科VIP一病区,陕西咸阳712000 [2]延安大学咸阳医院神经重症监护室,陕西咸阳712000 [3]延安大学咸阳医院神经内科十三病区,陕西咸阳712000

出　　处：《中国优生与遗传杂志》2021年第2期158-161,共4页Chinese Journal of Birth Health & Heredity

基　　金：陕西省社会发展攻关项目-社会发展领域(2020SF-150)。

摘　　要：目的利用生物信息学工具分析亚甲基四氢叶酸还原酶(MTHFR)C677T和A1298C位点不同基因型对应蛋白的性质和结构差异。方法从NCBI数据库中获取MTHFR基因的序列信息,通过生物信息学工具分别分析MTHFR的理化性质、亚细胞定位、蛋白质结构、结合位点及配体、蛋白互作网络,并分析不同基因型对应的蛋白质性质及结构差异。结果MTHFR基因C677T和A1298C位点不同基因型对应理化性质、亚细胞定位无变化。C677T位点靠近MTHFR的酶活性位点区,且是MTHFR与配体黄素腺嘌呤二核苷酸的结合位点;C677T不同基因型对应局部结构有差异;A1298C位点不同基因型对应局部结构无显著差异。结论MTHFRC677T位点不同基因型对应蛋白质局部结构差异可能影响MTHFR与配体的结合及酶活性,进而影响疾病的进展。Objective To analyze the protein properties and structure differences of different genotypes of methylenetetrahydrofolate reductase(MTHFR)C677 T and A1298 C by Bioinformatics tools.Methods The sequence of MTHFR was obtained from NCBI database.The physicochemical properties,subcellular localization,protein structure,binding sites and ligands and protein interaction network were analyzed by bioinformatics tools respectively,and the protein differences of different genotypes were analyzed.Results There was no changes in physicochemical properties and subcellular localization of different genotypes of MTHFR C677 T and A1298 C.The C677 T site is close to the enzyme active site region of MTHFR,and is the binding site of MTHFR to ligandflavin adenine dinucleotide.Different genotypes of C677 T had different local structures and there was no significant difference in the local structures of different genotypes of A1298 C sites.Conclusion The difference of structure of different MTHFR C677 T genotypes might affect the binding of MTHFR to ligands and enzyme activity,and then participates in its influence on diseases.

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 生物信息学 蛋白质结构 

分 类 号：Q811.4[生物学—生物工程] R36[医药卫生—病理学]