title: Polymorphism of DRw52 and its association with DRw11 and DRw12 in South African blacks (Negroes) and individuals of mixed ancestry (Cape coloreds).
abstract: The HLA-DRB3 gene, which encodes the supertypic HLA-DRw52 antigen, has been shown to have limited polymorphism. The alleles at this locus are also in linkage disequilibrium with the alleles at the DRB1 locus. We have studied 16 DRw11 and three DRw12 haplotypes in the South African populations. Five of the DRw11,DQw7 haplotypes were associated with a TaqI restriction fragment length polymorphism which has not been previously described and which correlated with the DRB3 gene. This new variant, which has been called DRw52d, is confined to individuals of black or mixed ancestry. Two of the DRw11,DQw7 haplotypes were also associated with DRw52a or DRw52c and not with DRw52b as has always been observed in white populations. The less common DRw11,DQw6 haplotype, observed in four individuals, also revealed different allelic associations with the DRB3 gene, together with an unusual DQA association. None of the three DRw12,DQw7 haplotypes had the usual association with the DRw52b allele and also demonstrated two distinct DQA associations. The pattern of linkage disequilibrium of the HLA-D region loci in the South African black populations is more complex than in other populations. These findings may be of significance for the matching of unrelated donors for organ transplantation, as well as the study of disease association with HLA.
authors.affiliation: Provincial Laboratory for Tissue Immunology, Cape Town, South Africa.
authors.forename: R W
authors.initials: RW
authors.lastname: Martell
authors.forename: M
authors.initials: M
authors.lastname: Oudshoorn
authors.forename: B
authors.initials: B
authors.lastname: Arendse
authors.forename: E D
authors.initials: ED
authors.lastname: du Toit
mesh_terms: D000483:Alleles; D044383:Black People / Q000235:genetics*; D015139:Blotting, Southern; D004247:DNA / Q000302:isolation & purification; D004591:Electrophoresis, Polyacrylamide Gel; D006683:HLA-DQ Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics*; D059810:HLA-DR Serological Subtypes; D006239:Haplotypes; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D013019:South Africa
chemical_list: D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; D059810:HLA-DR Serological Subtypes; C080766:HLA-DR11 antigen; C082411:HLA-DR12 antigen; C051104:HLA-DR52 antigen; D004247:DNA