Sequence analysis of a novel human leukocyte antigen allele HLA-A*9206 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the molecular genetic basis for a human leukocyte antigen (HLA) novel allele HLA-A*9206 in the Chinese population.</p><p><b>METHODS</b>DNA was extracted from whole blood by PEL-FREEZ DNA extraction kit. The amplification of HLA-A exons 1-8 of the proband was preformed and the PCR products were sequenced using ABI sequencing kit. Both strands of exons 2, 3 and 4 of the amplified product were sequenced. The polymerase chain reaction-sequence specific primer (PCR-SSP) was performed to split the two alleles apart and confirm the mutations detected by sequencing.</p><p><b>RESULTS</b>The sequencing results showed that the HLA-A alleles of the proband were A*1101 and a novel allele. The sequence of the novel allele has been submitted to GenBank (EF062306). After Blast analysis, the novel allele shows one nucleotide different from the HLA-A*0206 in exon 3 at nucleotide position 530 (C to T). This results in an amino acid change from Ala to Val at codon 153.</p><p><b>CONCLUSION</b>This allele is a novel allele and has been officially named A*9206 by the WHO Nomenclature Committee.</p>