AEGiS-12IAC: The prevalence of the CCR5-Δ32 gene deletion and CCR-5 M303 mutation in South African populations.

12th International AIDS Conference

Geneva, Switzerland - June 28-July 3, 1998

The prevalence of the CCR5-Δ32 gene deletion and CCR-5 M303 mutation in South African populations.

Int Conf AIDS 1998 Jun 28-Jul 3; 12:7 (abstract no. 11122)

Williamson C, Brice B, Smit T, Thomas R, Louie L, Quillent C, van der Ryst E
SAIMR Virology, University of Cape Town, South Africa.

OBJECTIVES: Resistance to HIV infection has been associated two CCR5 gene alterations, CCR5-Δ32 deletion and m303 mutation (Quillent et al., Lancet 1998, 351, 14-18), both of which render the protein non-functional. The aim of this study was to determine the prevalence of the CCR-5 Δ32 deletion and m303 mutation in different South African populations.

METHODS: DNA was isolated from 1731 blood samples. For detection of CCR-Δ32, a PCR fragment of 189 bp (wild type) or 157 bp (Δ32) was generated. For detection of the m303 mutation, a PCR fragment of 350 bp was generated which was cleaved by Hincll into 120 bp and 230 bp fragments (wild type). This restriction site is lost when mutated.

RESULTS: Eight individuals were heterozygous and no individuals were homozygous for the Δ32 CCR5 deletion. Of the 350 black South Africans screened for the m303 mutation, no individual was identified as having this mutation. TABULAR DATA, SEE ABSTRACT VOLUME

CONCLUSION: The prevalence CCR5-Δ32 deletion is low (below 0.2%) in the black South African populations compared to reported prevalence in Caucasian populations. The m303 CCR5 mutation was not detected in this group of people. Larger numbers of individuals of mixed race need to be screened to determine prevalence of these mutations in this group of people.

Keywords: AEGIS, Gene Deletion, Prevalence, Mutation, European Continental Ancestry Group, African Continental Ancestry Group, HIV Infections, Polymerase Chain Reaction, Continental Population Groups, epidemiology, genetics, ICA12
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