Identification of a novel allele human leukocyte antigen B*4609 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify a novel human leukocyte antigen (HLA) allele.</p><p><b>METHODS</b>HLA typing was carried out with PCR-SSOP. Molecular cloning and DNA sequencing were used to identify the sequence of a potential novel allele and the difference between this new allele and other known alleles was analyzed.</p><p><b>RESULTS</b>HLA genotyping of one sample gave different results. The sequencing results showed that the HLA B alleles of the proband were B*151101 and a novel allele. The nucleotide sequence of the novel allele was different from all other known B alleles. It had one nucleotide change from the closest matching allele B*460101 at nucleotide 527 (A to T) in exon 3, resulting in an amino acid change from E (GAG) to V (GTG) at codon 176.</p><p><b>CONCLUSION</b>A novel HLA B allele was identified and officially designated as HLA B*4609 by WHO Nomenclature Committee for Factors of the HLA System in November, 2006.</p>