Human leukocyte antigen‑A*24:02‑B*40:247‑C*03:04‑DRB1*16:02, a deduced probable human leukocyte antigen haplotype associated with a low‑incidence human leukocyte antigen allele B*40:247 in Taiwanese individuals: A case analysis

Kuo‑Liang Yang^{a, b*}, Zheng‑Zhong Zheng^c, Li‑Yun Lin^d

^aLaboratory of Immunogenetics, Tzu Chi Cord Blood Bank and Buddhist Tzu Chi Marrow Donor Registry, Buddhist Tzu Chi Stem Cells Centre, Hualien Tzu Chi Hospital, Hualien, Taiwan, ^bDepartment of Laboratory Medicine, Tzu Chi University, Hualien, Taiwan, ^cDepartment of Research, China Shanghai Tissuebank Diagnostics, Shanghai, China, ^dDepartment of Medical Technology, Chung Shan Medical University, Taichung, Taiwan

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Open Access funded by Buddhist Compassion Relief Tzu Chi Foundation

Abstract

Objective: HLA-B*40:247 is a low incidence allele in the HLA-B locus. The aim of this study is to confirm the ethnicity of B*40:247 and its deduced probable HLA- associated haplotype in Taiwanese individuals. Materials and Methods: A total of 2,329 unrelated Taiwanese individuals and 66,212 unrelated mainland Chinese individuals were tested for HLA using a sequence-based typing method. We confirmed the low incidence allele B*40:247 in Taiwanese. Polymerase chain reaction was performed to amplify exons 2, 3 and 4 of the HLA-A and HLA-B loci and exon 2 of the HLA-DRB1 locus using groupspecific primer sets. The amplicons were sequenced in both directions with the *BigDye Terminator Cycle Sequencing Ready Reaction Kit according to the manufacturer’s protocols. Results: The DNA sequence of B*40:247 is identical to B*40:01:01 in exons 2, 3 and 4 except for residue 853, where G of B*40:01:01 is changed to A in B*40:247 (codon 261, GTA->ATA). The nucleotide replacement causes a one amino acid change at codon 261 where V (valine) of B*40:01:01 is replaced by I (isoleucine) in B*40:247. We deduced the probable HLA haplotype associated with B*40:247 in Taiwanese to be HLAA* 24:02-B*40:247-C*03:04-DRB1*16:02. Conclusion: Information on the ethnicity and distribution of B*40:247 and its deduced probable HLA haplotype in association with the low incidence allele is of value for HLA testing laboratories for reference purposes and can help bone marrow donor registries find compatible donors for patients with this uncommon HLA allele.

Keywords: Haplotype, HLA, Sequence-based typing, Taiwanese, Transplantation