[Sequence analysis and identification of two novel HLA alleles HLA-B*9536 and HLA-B*4612].

OBJECTIVE

To identify two novel HLA alleles HLA-B9536 and B4612, in an individual.

METHODS

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.

RESULTS

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 B9536 and B4612 by the WHO Nomenclature Committee. The sequence of exons 2-4 of HLA-B9536 showed one nucleotide difference in exon 3 at position 544 (G to A) comparing with the closest allele B1505, which resulted in an amino acid change from Ala to Thr at codon 158. In the HLA-B4612 allele, there was one nucleotide change in exon 3 at position 363 (G to A), when compared to the closest allele B4601, which lead to an amino acid change from Arg to Ser at codon 97.

CONCLUSION

Two novel HLA-B alleles were identified in one individual and have been officially named by the WHO Nomenclature Committee.