宫颈癌易感基因HLA-DQA1编码区SNPs的筛选和分析  

Screening and Analysis of Coding SNPs of HLA-DQA1 Gene Involved in Susceptibility for Cervical Cancer

作　　者：李艳芸[1] 邢军[1] 赵林胜[1] 李燕妮[1] 王玉川[1] 张维铭[1] 

机构地区：[1]天津医科大学实验中心分子生物学室,天津300070

出　　处：《癌症》2006年第7期906-910,共5页Chinese Journal of Cancer

摘　　要：背景与目的:人类白细胞抗原(humanleukocyteantigen,HLA)基因多态性的差异在宫颈癌发病过程中发挥重要作用,本研究用生物信息学的方法筛选宫颈癌易感基因HLA-DQA1编码区的单核苷酸多态性(singlenucleotidepolymorphisms,SNPs),并对其多态性的变异所引发的氨基酸变化是否会导致基因的功能异常进行筛选和分析。方法:使用SNPper软件从公共数据库dbSNP获得HLA-DQA1编码区的SNPs数据,在dbSNP数据库获取相应的FASTA序列,使用PARSESNP软件进行筛选和分析。结果:在HLA-DQA1基因的编码区发现2个SNPs(rs9272693和rs9272703),其单核苷酸的变化会引发错义突变,PSSMDifference大于10,预测该突变为有害突变。结论:建立的生物信息学方法可以对基因编码区的SNPs进行分析,在众多的SNPs中搜寻出序列保守区的变异,并给出评价标准,但是所得结果需要在宫颈癌患者与对照人群中进行实验验证。BACKGROUND ＆ OBJECTIVE： Polymorphisms of human leukocyte antigen （HLA） gene play an important role in the development of cervical cancer. This study was to screen single nucleotide polymorphisms （SNPs） of HLA-DQA1 gene involved in susceptibility of cervical cancer by a bioinformatics approach, and analyze their correlations to abnormal gene functions. METHODS, SNPs of HLA-DQA1 were screened from a public database dbSNP by SNPper software, and relevant FASTA subsequences were also obtained from dbSNP. PARSESNP software was used to analyze cSNPs. RESULTS： Two SNPs, rs9272693 and rs9272703, which may induce mis-sense mutation, were identified in codon region of HLA-DQA1 gene. A PSSM difference 〉10 was used to predict deleterious mutation. CONCLUSIONS= SNPper software in combination with PARSESNP software could be used to analyze SNPs of HLA-DQA1 gene and select the variants in a conserved region, and it provides an evaluation criterion. But the results need to be verified in cervical cancer patients and control populations.

关 键 词：生物信息学 单核苷酸多态性(SNPs) 宫颈肿瘤 人类白细胞抗原 

分 类 号：R737.33[医药卫生—肿瘤]