Sequence analysis and identification of two novel HLA alleles HLA-B*9536 and HLA-B*4612 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify two novel HLA alleles HLA-B*9536 and B*4612, in an individual.</p><p><b>METHODS</b>DNA was extracted from whole blood by Invitrogen DNA extraction kit. The amplification for HLA-B exons 2-4 of the proband was performed separately with allele group specific primers and the PCR products were directly sequenced for exons 2-4 in both direction.</p><p><b>RESULTS</b>There were two novel HLA-B alleles in the proband. The sequences of the two alleles have been submitted to GenBank (EU081878 and EU081879). The two alleles have been officially named as B*9536 and B*4612 by the WHO Nomenclature Committee. The sequence of exons 2-4 of HLA-B*9536 showed one nucleotide difference in exon 3 at position 544 (G to A) comparing with the closest allele B*1505, which resulted in an amino acid change from Ala to Thr at codon 158. In the HLA-B*4612 allele, there was one nucleotide change in exon 3 at position 363 (G to A), when compared to the closest allele B*4601, which lead to an amino acid change from Arg to Ser at codon 97.</p><p><b>CONCLUSION</b>Two novel HLA-B alleles were identified in one individual and have been officially named by the WHO Nomenclature Committee.</p>