| hRFT2基因单核苷酸多态性的生物信息学分析 |
| |
| 引用本文： | 谢云飞,解博红,杨子善.hRFT2基因单核苷酸多态性的生物信息学分析[J].生物技术通报,2012(5):138-143. |
| |
| 作者姓名： | 谢云飞 解博红 杨子善 |
| |
| 作者单位： | 1. 新乡医学院生命科学技术系河南省遗传性疾病与分子靶向药物高校重点实验室培育基地,新乡,453003
2. 新乡医学院基础医学院,新乡,453003 |
| |
| 摘 要： | 旨在筛选可能与人类疾病有关的hRFT2基因单核苷酸多态性(single nucleotide polymorphisms,nsSNPs)和突变位点,从SNP数据库中检索并筛选出395个有效的hRFT2基因SNPs,其中包括30个同义SNPs(synonymous SNPs,sSNPs)和31个非同义SNPs(non-synonymous single nucleotide polymorphisms,nsSNPs)。分别采用SIFT、SNPs3D和PolyPhen-2方法分析nsSNPs引起的氨基酸替换是否可能影响hRFT2的功能。结果表明,5个nsSNPs(rs11477762、rs146302587、rs146492942、rs76947760和rs145431028)可能严重影响hRFT2蛋白的功能,其中rs76947760和rs145431028的影响已得到临床证明,另外3个nsSNPs(rs148387972、rs140391358和rs3746802)也可能对hRFT2有较大的影响。
|
| 关 键 词： | 人类核黄素转运蛋白2 单核苷酸多态性 氨基酸替换 |
Bioinformatics Analysis of Single Nucleotide Polymorphisms in hRFT2 Gene |
| |
| Xie Yunfei
,
Xie Bohong
,
Yang Zishan.Bioinformatics Analysis of Single Nucleotide Polymorphisms in hRFT2 Gene[J].Biotechnology Bulletin,2012(5):138-143. |
| |
| Authors: | Xie Yunfei Xie Bohong Yang Zishan |
| |
| Institution: | 1(1Department of Life Sciences and Technology,Henan Key Laboratory of Hereditary Diseases and Molecular Targeted Drugs(Cultivating Base),Xinxiang Medical University,Xinxiang 453003;2School of Basic Medical Sciences, Xinxiang Medical University,Xinxiang 453003) |
| |
| Abstract: | It was to screen disease-associated single nucleotide polymorphisms(SNPs)of hRFT2 gene,395 useful SNPs were retrieved and screened from SNP databases,including 30 synonymous SNPs(sSNPs)and 31 non-synonymous SNPs(nsSNPs).The possible effects of nsSNPs-caused amino acid substitutions(AASs)were predicted using SIFT,SNPs3D and PolyPhen-2 methods.5 nsSNPs(rs11477762,rs146302587,rs146492942,rs76947760 and rs145431028)were extremely damaging to hRFT2,in which rs76947760 and rs145431028 were proved by clinical studies.Another 3 nsSNPs(rs148387972,rs140391358 and rs3746802)might also be intolerable to hRFT2. |
| |
| Keywords: | Human riboflavin transporter 2 Single nucleotide polymorphism Amino acid substitution |
| 本文献已被 CNKI 万方数据 等数据库收录！ |
|
