A novel human leukocyte antigen-A*33:44 allele revealed by sequence analysis / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the sequence of a novel human leukocyte antigen (HLA)-A*3344 allele.</p><p><b>METHODS</b>A novel HLA-A allele was found by double-stranded sequencing combined with single-stranded sequencing. The frequency of the novel allele was determined by population survey.</p><p><b>RESULTS</b>Genomic sequence of this novel HLA-A*3344 allele (accession No. HQ873871) has differed from HLA-B*330301 by one nucleotide in exon 4, which resulted in nt 866 G→ A substitution, which results in an amino acid substitution from Gly(GGT) to Asp(GAT) at codon 265. This alternation is a new single nucleotide polymorphism compared with other HLA-A alleles. The frequency of this new allele is less than 0.0003 in Chinese Han population.</p><p><b>CONCLUSION</b>A mutation has been found in exon 4 of the novel HLA-A*3344 allele, which may provide more information for HLA gene study.</p>