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目的:应用生物信息学的方法分析疾病相关基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点,筛选可导致子痫前期易感基因HLA-G功能变化的SNPs位点。方法:使用SNPper软件从公共数据库dbSNP获得HLA-G编码区的SNPs数据,并下载SNPs位点侧翼序列,使用PARSESNP软件进行分析。结果:在HLA-G基因的编码区发现5个SNPs位点(C343T、C348T、A396T、A466G、C1903T),PSSM Difference分别为19.5、17.4、15.6、6.8和16,其单核苷酸的变化会引发错义突变,且PSSM D ifference>10的突变很可能为有害突变。结论:本文应用生物信息学策略对子痫前期易感基因HLA-G编码区的SNPs进行分析,搜寻对HLA-G基因表达和蛋白质结构及功能产生影响的SNPs,为疾病与基因的关联性研究提供很有价值的信息。
OBJECTIVE: To analyze single nucleotide polymorphisms (SNPs) sites of disease-associated genes using bioinformatics methods and screen SNPs loci that may lead to the change of HLA-G function of preeclampsia susceptibility genes. METHODS: SNPs data of HLA-G coding region were obtained from public database dbSNP using SNPper software. The flanking sequences of SNPs were downloaded and analyzed by PARSESNP software. RESULTS: Five SNPs (C343T, C348T, A396T, A466G, C1903T) were found in the coding region of HLA-G gene. The PSSM differences were 19.5, 17.4, 15.6, 6.8 and 16, respectively. Missense mutations are introduced, and mutations in PSSM Dference> 10 are likely to be deleterious mutations. Conclusion: The bioinformatics method was used to analyze the SNPs of the HLA-G coding region of preeclampsia susceptible genes and to search for the SNPs that affect the expression of HLA-G gene and the structure and function of the proteins. Provide valuable information