Genetic variation within the gene encoding the HIV-1 CCR5 coreceptor in two South African populations.

ABSTRACT: Polymorphisms within the open reading frame as well as the promoter and regulatory regions can influence the amount of CCR5 expressed on the cell surface and hence an individual's susceptibility to HIV-1. In this study we characterize CCR5 genes within the South African African (SAA) and Caucasian (SAC) populations by sequencing a 9.2kb continuous region encompassing the CCR5 open reading frame (ORF), its two promoters and the 3' untranslated region. Full length CCR5 sequences were obtained for 70 individuals (35 SAA and 35 SAC) and sequences were analyzed for the presence of single-nucleotide polymorphisms (SNPs), indels and intragenic haplotypes. A novel SNP (+258G/C) within the ORF leading to a non-synonomous amino acid (Trp-->Cys) change was detected in one Caucasian individual. Result

SUBMITTER: Picton AC 

PROVIDER: S-EPMC2877777 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature