Identification of a novel allele HLA-B*15:129 by polymerase chain reaction with allele group-specific primers / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the sequence of the exons 2-4 of human leukocyte antigen (HLA) novel allele HLA-B*15129.</p><p><b>METHODS</b>DNA of the proband was extracted from whole blood by commercial DNA extraction kit. The amplification for HLA-B exons 2-4 was performed separately by polymerase chain reaction (PCR) with allele group specific primers. The PCR products were digested with enzymes and then directly sequenced for exons 2-4 of HLA-B locus in both directions.</p><p><b>RESULTS</b>Sequencing results showed the HLA-B alleles of the proband included B*0702 and a novel allele. The sequence of the novel allele has been submitted to GenBank (accession no. EF473219) and the allele has been officially named B*15129 by the WHO Nomenclature Committee. Comparing with the HLA-B*15010101, the sequence of exons 2-4 of HLA-B*15129 showed three nucleotide difference in exon 3 at positions 362 and 363 from GG to AT and positions 369 from C to T, which resulted in an amino acid change from Arg to Asn at codon 97.</p><p><b>CONCLUSION</b>A novel HLA-B allele was identified and has been officially named B15129 by the WHO Nomenclature Committee.</p>