A novel HLA‐B*14 allele – B*14:53 – genetics and serology

Summary
HLA‐B*14:53 was found in a UK European normal blood donor prior to registration on the Welsh Bone Marrow Donor Registry. It differs from B*14:13 by one base (103G>T) in exon 2 resulting in a substitution of alanine (A) in B*14:13 to serine (S) in B*14:53. Unique among current HLA‐B*14 alleles, B*14:53 and B*14:13 share a motif of 59 bases between positions 361 and 419 in exon 3. This motif is present in numerous HLA‐B alleles the commonest overall being B*08:01, suggesting that both B*14:53 and B*14:13 arose from intralocus gene conversion events with B*08:01. Thus, B*14:53 probably arose from B*14:01:01 (which has TCC at codon 11 (S), while B*14:13 arose from B*14:02:01:01 which has GCC at codon 11 (A). Additionally, the two likely B*14:53‐bearing and B*14:13‐bearing haplotypes are typical of B*14:01:01‐bearing and B*14:02:01:01‐bearing haplotypes, respectively. Serological testing, using 49 antisera with HLA‐B64, or B64, B65 reactivity, showed that the B*14:53 specificity did not react as a B64 (B*14:01) specificity and may appear as a short/weak HLA‐B14. This implies that residues additional to S at position 11 are involved in HLA‐B64 serological identity; for example, the motif 11S 97W 116F is possessed by B*14:01 and many other B*14 products (and B*39:79 plus some HLA‐C products) but not B65 (B*14:02) or the B*14:53 specificity. B*14:53 was found in a random HLA sequence‐based typed population of 32 530 normal subjects indicating a low...

Source: International Journal of Immunogenetics - May 31, 2016 Category: Genetics & Stem Cells Authors: J. Street, E. Davies, C. Darke Tags: Original Article Source Type: research