Identification of a novel allele HLA-DRB1*1219 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify a novel HLA DRB1 allele in a Chinese leukemia family.</p><p><b>METHODS</b>A new HLA-DRB1 allele was initially detected by polymerase chain reaction-sequence specific primer and unusual reaction pattern by Luminex RSSO, then DNA sequencing was performed to identify the sequence of the novel allele.</p><p><b>RESULTS</b>The DNA sequencing revealed the presence of the new allele which differs from the closest matching HLA-DRB1*120201 by a single nucleotide substitution at position (341 C > T in exon 2), resulting in an amino acid change from Ala to Val at coden 85.</p><p><b>CONCLUSION</b>A novel allele was confirmed by DNA sequencing and has been designated HLA-DRB1*1219 by the WHO Nomenclature Committee.</p>