Nucleotide sequence analysis of A novel HLA-B*15:124 allele confirmed / 中国实验血液学杂志

ABSTRACT

This study was purposed to investigate the nucleotide sequences of a novel HLA-B*15124 allele and its molecular mechanism. The genomic DNA from whole blood was extracted by using commercial DNA extraction kit. The sequences of exon 2, 3 and 4 of HLA-B locus in the proband were amplified by PCR with group-specific primers, the PCR products were purified by enzymes digestion, then exon 2 to 4 of HLA-B locus for both orientations was sequenced. The results showed that 2 HLA-B alleles of proband were gained after amplification and sequencing of group-specific primers, among them one was a B*4003, another was a novel allele. After BLAST analysis, the novel allele showed nucleotides different from HLA-B*1552 in exon 3 at nucleotide position 427 A > T and 440 G > T which resulted in amino acid change from Thr to Ser at codon 143 and Trp to Leu at conon 147. It is concluded that a novel HLA-B allele has two different nucleotides. This HLA-B allele is identified and has been officially named B*15124 by the WHO Nomenclature Committee.