Identification and sequence analysis of a novel HLA-B*5614 allele / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the molecular genetics basis for a novel HLA allele, HLA-B*5614, in Chinese population.</p><p><b>METHODS</b>DNA was extracted from whole blood by salting-out method. The HLA-B exons 2-4 of the proband was amplified and the amplified product was cloned using TOPO cloning sequencing kit to split the two alleles apart. Both strands of exons 2,3 and 4 of chosen colonies were sequencing. The PCR-SSP was performed to confirm the mutations detected by sequencing.</p><p><b>RESULTS</b>The sequencing results showed the HLA-B alleles of the proband as B*1502 and the novel allele. The sequences of the novel allele have been submitted to GenBank (AY601726, AY610727, AY610728). After BLAST analysis, the novel allele differs from B*5608 by a single nucleotide at position 277G-->C in exon 2. This results in an amino acid change from Gly to Arg at codon 93.</p><p><b>CONCLUSION</b>This allele is a novel allele and has been officially named B*5614 by the WHO Nomenclature Committee.</p>