Abstract:

BACKGROUND: When the authors performed classification experiments using human leucocyte antigen reagent (HLA reagent, onelamba company, USA) and imported the HLA data into the analysis software, an abnormal reaction pattern was found at HLA-B locus with normal reactions of negative and positive magnetic beads. Thus, it is suspect that a novel gene existed.
OBJECTIVE: To identify a novel HLA-B allele. 
METHODS: The blood samples were collected from China Bone Marrow Bank, and screened using PCR-SSO genotyping methods to search possible existed novel allele based on Luminex platform and sequencing-based typing (SBT).
RESULTS AND CONCLUSION: PCR-SSO genotyping showed that HLA-A locus genotypes were A*02XX, A*33XX; HLA-DRB1 locus genotypes were DRB1*1202, DRB1*1302, but the pattern of HLA-B locus showed abnormal reaction, which can not identified any HLA-B alleles, HLA tools suggested that “B*44XX, B*53XX; 90FN, 91FP”, using other reagents (Dynal, PCR-SSO) genotyping method to analyze, also showed no result. SBT result indicated the novel allele is the variant of allele HLA-B*5106. It differed from the allele HLA-B*5106 by three nucleotide substitution at position 339 where A→G resulting in a coding change 113 N to D, at position 346 where A→C resulting in a coding change 115 Y to S, but at position 362 where A→G doesn’t result any change in exon 3. The sequence has been designated HLA-B*5145 by the Nomenclature Committee for Factors of the HLA System in World Health Organization in October 2006.