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Regulatory SNP rs5743417 impairs constitutive expression of human β-defensin 1 and has high frequency in Africans and Afro-Americans

Int J Immunogenet. 2020; 
Cruz Díaz LA, Gutiérrez Ortega A, Chávez Álvarez RDC, Velarde Félix JS, , Prado Montes de Oca E, , .
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PCR Cloning and Subcloning … This chimeric promoter sequence of DEFB1 was synthesized and inserted in the cloning vector pUC57 (2,710 bp) by Genscript XhoI and SacI restriction sites were added to the 5′ and 3′ ends of the promoter sequence, respectively, during the synthesis process … Get A Quote

摘要

The prediction of regulatory single nucleotide polymorphisms (rSNPs) in proximal promoters of disease-related genes could be a useful tool for personalized medicine in both patient stratification and customized therapy. Using our previously reported method of rSNPs prediction (currently a software called SNPClinic v.1.0) as well as with PredictSNP tool, we performed in silico prediction of regulatory SNPs in the antimicrobial peptide human β-defensin 1 gene in three human cell lines from 1,000 Genomes Project (1kGP), namely A549 (epithelial cell line), HL-60 (neutrophils) and TH 1 (lymphocytes). These predictions were run in a proximal pseudo-promoter comprising all common alleles on each polymorphic site acco... More

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