Mutations in C-C chemokine receptor type 5 (CCR5) in South African individuals

Show simple item record Barmania, Fatima Potgieter, Marnie Pepper, Michael Sean 2014-02-03T11:40:03Z 2014-02-03T11:40:03Z 2013-12
dc.description.abstract BACKGROUND: The importance of the C-C chemokine receptor type 5 (CCR5) in HIV infection and disease progression was recognized with the discovery of the Δ32 allele. Individuals homozygous for this mutation lack functional CCR5, and are almost completely resistant to HIV infection. Heterozygous individuals display decreased cell surface CCR5, which slows disease progression. Phenotypic expression of CCR5 is heterogeneous and its relation to genetic mutations in the CCR5 gene is not currently known for the South African population. This provided the rationale for investigating genetic variation in low CCR5 expressers in South Africa. METHODS : Flow cytometry was used to measure the phenotypic distribution of CCR5 in 245 individuals by assessing both the percentage of CD4 + CCR5+ T-cells and CCR5 density. RESULTS: Genotypic data revealed 70 single nucleotide polymorphisms (SNPs), four insertions, and the Δ32 deletion within the 65 individuals selected for sequencing. The Δ32 mutation was detected only in the Caucasian group and included a single homozygous individual with an absence of CCR5 expression. A total of eight previously described open reading frame (ORF) mutations were found in this study, as well as 12 novel mutations with two in the ORF. Greater genetic diversity was present in the black South African group, with 39 mutations being exclusive to this group. Conclusions: Using a unique approach to genotype in individuals with lower CCR5 expression we have identified novel SNPs which could affect HIV infection. en_US
dc.description.librarian hb2014 en_US
dc.description.librarian ay2014
dc.description.uri http://www elseviercom//loc ate/ijid en_US
dc.identifier.citation Barmania, F, Potgieter, M & Pepper, MS 2013, 'Mutations in C-C chemokine receptor type 5 (CCR5) in South African individuals', International Journal of Infectious Diseases, vol. 17, no.12, pp. e1148–e1153 . en_US
dc.identifier.issn 1201-9712 (print)
dc.identifier.issn 1878-3511 (online)
dc.identifier.other 10.1016/j.ijid.2013.06.009
dc.language.iso en en_US
dc.publisher Elsevier en_US
dc.rights © 2013 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved. Notice : this is the author’s version of a work that was accepted for publication in International Journal of Infectious Diseases.Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in International Journal of Infectious Diseases, vol.. 17, no, 12, pp. e1148–e1153, 2013. doi : 10.1016/j.ijid.2013.06.009 en_US
dc.subject HIV en_US
dc.subject C-C chemokine receptor type 5 (CCR5) en_US
dc.subject Single nucleotide polymorphism (SNP) en_US
dc.subject Δ32 en_US
dc.subject.lcsh HIV infections -- Genetic aspects en
dc.title Mutations in C-C chemokine receptor type 5 (CCR5) in South African individuals en_US
dc.type Postprint Article en_US

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