122-P: A NOVEL ALLELE: HLA-B∗13:01:06, IDENTIFIED BY SEQUENCE- BASED TYPING IN A CHINESE INDIVIDUAL

Abstract

Here we reported the identification and characterization of a novel allele: HLA-B∗13:01:06. In an ongoing research project studying the association with cancer susceptibility and HLA allele diversity in Southern Chinese Han population, blood samples collected from patients and health controls have been sent to HLA typing lab routinely. Genomic DNA had been extracted by using Qiagen DNA extraction kit (Qiagen, Valencia, CA),following the manufacturer’s instructions. Polymerase chain reaction (PCR)/ sequence-based typing (SBT) methods were used to obtain HLA—A,-B,-C and –DRB1 nucleotide sequences (AlleleSEQR Combikits, Abbott GmbH& Co. KG, Wiesbaden, Germany). HLA high-resolution typing results have been identified by using ABI Sequence Analysis program (Assign 3.5 SBT software, Conexio Genomics, Applecross, Australia). One of these samples was found a mismatched in HLA allele database while the result was assigned for “R” with one nucleotide mismatched showing symbol, which suggested there was G or A at position 218 at codon49 in exon2. This sample was typing again by using another direct sequence-based typing kit (HLAssure SBT Typing Kit, Texas BioGene Inc, Richardson, Texas, U.S.A). The result showed there was a nucleotide mutation changing from G to A at the position 219. The nucleotide sequences of this sample are identical to those of HLA-B∗13:01:01, except one nucleotide acid changed (G → A) at position218, at codon49(GCG → GCA) in exon2 (Fig 1). It is a silent mutation, the amino acid remains the same(Ala → Ala). The nucleotide sequence has been submitted to the GenBank nucleotide sequence database and the submission number is HQ873872, The name HLA-B∗13:01:06 has been officially assigned by the WHO Nomenclature Committee in January 2011.