Molecular, serological and population studies on a novel HLA-B allele - HLA-B*5002

Publisher Website
Google Scholar
Abstract
A novel HLA‐B allele (B*5002), detected as a discrepancy between serological and PCR‐SSP HLA‐A and B phenotyping of bone marrow panel donors, was identified by nucleotide sequencing of exons 2 and 3. Titration studies on 39 HLA‐B12/B21 cross‐reactive antisera showed that the serological specificity of HLA‐B*5002 was HLA‐B45. PCR‐SSP testing of 287 serologically defined HLA‐B45‐positive subjects from a panel of 12,411 donors, together with HLA‐B*45 and B*5002 frequency data on 4,342 PCR‐SSP typed subjects, indicated that 4.53% of serologically defined HLA‐B45‐positive subjects possess HLA‐B*5002 and not HLA‐B*4501. The pheno‐type frequency of HLA‐B*5002 was 0.08954%; gene frequency was 0.00045 (n=16,753). In 73.3% of instances B*5002 appeared to be present on a haplotype with DRBl*0406 and DQB1*0402, 54.6% of which possessed A*2301. The B*5002, DRBl*0406, DQB1*0402 haplotype represents 52.4% of all haplotypes with DRB1*04 and DQB1*04 and 78.6% of haplotypes possessing DRBl*0406 and DQBl*0402.