HLA-B22 diversity including a novel B54 variant (B*5507) in the Korean population

Diversity in the HLA-B22 group was investigated in the Korean population using PCR-SSOP and DNA sequencing analyses. Allelic typing of the B22 gene was performed by gene amplification of the polymorphic exons 2 and 3 of the HLA-B genes from 91 B22 positive individuals followed by a hybridization assay using 63 digoxigenin-labelled probes. Five different SSOP patterns including an unexpected pattern were identified and correlated well with the observed serologic types and with data obtained from DNA sequencing analyses. Novel allele, B*5507, was identified from two unrelated individuals who exhibited standard B54 serologic reactivity but an unexpected SSOP pattern. The DNA sequence of B*5507 is identical to B*5502 in exons 2 and 3 except for a single nucleotide substitution at codon 45 (GAG-->GGG) altering glutamic acid to glycine. Among the already known B molecules, this substitution has been observed only in the B54 molecule encoded by B*5401 allele. This is the evidence that Gly-45 is a crucial site forming the B54 serologic epitope. Interestingly, both alleles (B*5401 and B*5507) exhibit strong association with Cw*0102. Along with previous data, B22 appears to be a very diverse group in the Korean population consisting of at least seven different alleles. B*5401, B*5502, and B*5601 are the most frequent alleles. B*5507, B*5501, B*5504, and B*5604 appear at lower frequencies. Data obtained from this study will be useful in hematopoietic stem cell donor searches as well as in determination of a typing strategy for the HLA-B22 types in this population.