Sequence analysis and identification of a novel allele, HLA-B*55:46

doi:10.3969/j.issn.2095-4344.2015.19.015

Abstract：BACKGROUND:In recent years, with the development of China Marrow Donor Program and the improvement of human leukocyte antigen (HLA) typing technique, novel HLA aleles have been discovered constantly in China. OBJECTIVE: To identify and confirm a novel HLA alele in a Chinese individual. METHODS:A new HLA alele was found in a 27-year-old male Han volunteer donor of hematopoietic stem cels during routine HLA genotyping by PCR-sequence specific oligonucleotide probes and sequencing-based typing. RESULTS AND CONCLUSION:The HLA-B locus hybridization probe reaction patterns of this sample did not match to any known HLA-B aleles or alelic combinations. Exons 2-3 were sequenced in both directions using HLA-B sequence primer and group-specific sequencing primer. The new sequence had 1 nt change from its closest alele B*55:02:01 at nucleotide 412 where A→G (codon138 AAC→GAC) resulting in a coding change,138 Asparagine (N) was changed to Aspartate (D). The nucleotide sequence has been submitted to the GenBank nucleotide sequence database and it is available under the accession number HM989018. A novel HLA alele, HLA-B*55:46, has been identified, and named officialy by the WHO Nomenclature Committee.