In silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human RAG1 and RAG2 Genes of Severe Combined Immunodeficiency
作者: Mona Shams Aldeen S
刊名: JSM Bioinformatics, Genomics and Proteomics, 2016, Vol.1 (1)
来源数据库: JSciMed Central Journals
关键词: Primary immunodeficiencyT lymphocytesRecombinase activating genesnon synonymous Single Nucleotide Polymorphisms
原始语种摘要: Severe combined immunodeficiency is an inherited Primary immunodeficiency PID, which is characterized by the absence or dysfunction of T lymphocytes. Defects in RAG1 and RAG2 are known to cause a TBNK+ form of SCID. Recombinase activating genes RAG1 and RAG2 (OMIM 179615,179616 respectively) are expressed exclusively in lymphocytes and mediate the creation of double-strand. DNA breaks at the sites of recombination and in signal sequences during T− and B− cell receptor gene rearrangement. This study was focused on the effect of nonsynonymous single nucleotide polymorphisms in the function and structure of RAG1& RAG2 genes using In silico analysis. Only nsSNPs and 3’UTR SNPs were selected for computational analysis. Predictions of deleterious nsSNPs were performed by bioinformatics...
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  • nucleotide 核苷酸
  • exclusively 专用于
  • bioinformatics 生物信息学
  • analysis 分析
  • expressed 榨出的
  • consanguineous 同源岩浆的
  • strand 海滨
  • further 进一步
  • SCID Signal Collection/Tail Identification Card
  • rearrangement 重新配置