P071 : DESCRIPTION OF THREE NOVEL ALLELES HLA-DQB1∗05:48, HLA-DQB1∗06:126, AND HLA- DQB1∗06:123 IN SAUDI STEM CELL DONORS

Abstract

We describe here 3 novel alleles HLA-DQB1 ∗ 05:48, HLA-DQB1 ∗ 06:126, and HLA- HLA-DQB1 ∗ 06:123. These were identified by sequence-based typing in 3 participants in the Saudi Stem Cell Registry. HLA-DQB1 ∗ 05:48 differs from HLA-DQB1 ∗ 05:01:01G by a non-synonymous T to C substitution at nucleotide position 1693 in exon 2, resulting in an amino acid change from tyrosine to histidine at codon 47. HLA-DQB1 ∗ 06:126 differs from HLA-DQB1 ∗ 06:02:01G by a non-synonymous C to T substitution at nucleotide position 1621 in exon 2, resulting in an amino acid change from arginine to cysteine at codon 23. Interestingly, HLA-DQB1 ∗ 06:123 differs from its most similar allele HLA-DQB1 ∗ 06:29 by six nucleotide substitutions at positions 1691, 1694, 1698, 1709, 1712 and 1718 in exon 2, resulting in five amino acid changes and one silent mutation.