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

<p><b>OBJECTIVE</b>To analyze the sequence of a novel human leukocyte antigen (HLA)-A*33:44 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*33:44 allele (accession No. HQ873871) has differed from HLA-B*33:03:01 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*33:44 allele, which may provide more information for HLA gene study.</p>

Nucleotide sequence analysis for a new HLA-B allele HLA-B*13:01:06* / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To confirm a new allele HLA-B*13:01:06 and analyze its nucleotide sequence.</p><p><b>METHODS</b>Genomic DNA was extracted using a Qiagen DNA extraction kit. Nucleotide sequences of HLA-A, HLA-B, HLA-C and HLA-DRB1 were analyzed by polymerase chain reaction-sequence based typing (PCR-SBT). HLA high-resolution results were assigned, and the nucleotide sequences of HLA-B locus was compared with that of HLA-B*13:01:01.</p><p><b>RESULTS</b>The nucleotide sequence of the new allele shows a strong similarity to that of HLA-B*13:01:01. One nucleotide in exon 2 has changed from G to A at position 219 (codon 49 GCG>GCA), which however did not result in amino acid change.</p><p><b>CONCLUSION</b>The novel allele verified by sequencing has been submitted to GenBank and officially named as HLA-B*13:01:06 by the World Health Organization HLA Nomenclature Committee.</p>