Identification of a novel HLA allele HLA-B*46:01:18 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To report on a novel human leukocyte antigen (HLA) allele.</p><p><b>METHODS</b>Polymerase chain reaction-sequence based typing was used for routine HLA typing. For one sample, the result of B locus typing showed mismatch of one base with B*460101, B*152501 at locus 384. The group specific sequencing primers, which target at B*46 and B*15, were used to confirm the difference between the novel allele and the highest homologous allele.</p><p><b>RESULTS</b>The sequencing results showed that the highest homologous allele to the novel allele was B*460101. The two sequences only differed for position 384 within the exon 3 (384G>T), which resulted in a codon change (GGG>GGT), though the amino acid sequence of the novel allele at position 104 was still Glycine (G). Investigation of the family showed that the novel allele was inherited from the father.</p><p><b>CONCLUSION</b>The novel HLA-B allele, discovered in ethnic Zhuangs from Guangxi, has been designated as HLA-B *460118 by the World Health Organization (WHO) HLA Nomenclature Committee.</p>