Sequence analysis of a novel HLA allele B*5618 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify HLA novel allele in Chinese Han individual.</p><p><b>METHODS</b>An unknown HLA-B allele which was similar to HLA-B*5610 was detected by polymerase chain reaction-sequence specific oligonucleotide probes(PCR-SSOP), PCR-sequence specific primer(PCR-SSP) and heterozygous sequence-based typing (SBT) in a Chinese Han individual. Its anomalous patterns suggested the possible presence of new allele. The HLA-B*56 allele was amplified separately by using allele-specific primers and sequencing exons 2-4 in both directions. The differences between the novel B*56 allele and B 5610 were identified.</p><p><b>RESULTS</b>There were 4nt changes from B*5610 in exon 3, at nt379 where C>G (codon 127 CTG>GTG, 127 Leu>Val); nt412 where A>G (codon 138 AAC>GAC, 138 Asn>Asp), nt419 where T>C and nt420 where A>C (codon 140 TTA>TCC, 140 Leu>Ser). The sequence was submitted to Genbank and the accession number was EF016753.</p><p><b>CONCLUSION</b>This allele is a novel HLA-B allele, and has been officially named HLA-B*5618 by the WHO Nomenclature Committee in September 2006.</p>