Sequence analysis of a novel allele HLA-C*01:78 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the genetic basis for a novel allele HLA-C*0178.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood using a QIAGEN quick DNA extraction kit. The regions encompassing HLA-C from exon 1 to intron 3 and intron 3 to 3'UTR were amplified and cloned using a cloning sequencing kit in order to split the two alleles apart. Selected clones were sequenced to include exons 2 to 4.</p><p><b>RESULTS</b>Sequencing results have indicated the HLA-C alleles of the proband to be a novel C*0304 allele. The sequence has been submitted to GenBank (KF049216). BLAST analysis has confirmed the novel allele to have one nucleotide difference as C*0103 at genomic nt316C>A (codon 82CGC>AGC) in exon 2, which has resulted in replacement of one amino acid (82R>S).</p><p><b>CONCLUSION</b>The novel allele has been officially named as C*0178 by the WHO Nomenclature Committee. The HLA allele type of the proband was therefore A*0207, 2402; B*4001, 4601; C*0178, 0304; DQB1*0502, 0502; DRB1*1602, 1602.</p>