Sequence analysis and 3D molecular structure simulation of a novel HLA allele B*51: 159 / 中华医学遗传学杂志

ABSTRACT

Objective@#To identify a novel human leukocyte antigen (HLA) B allele in a Chinese Han individual and construct its three-dimensional structure.@*Methods@#The initial HLA genotyping was performed by PCR-sequence-based typing (PCR-SBT). The ambiguous allele was confirmed with single-strand DNA sequencing. The DNA sequence was analyzed to identify the difference between the novel allele and its closest matching allele. Finally, the three-dimensional molecular structure of the novel allele was constructed using a Swiss-Model.@*Results@#One allele of the subject at the HLA-B locus was B*44 03 01, whilst the other was a novel allele which differed from the closest matching allele B*51 01 01 01 by nucleotide (nt) 329 A>C in exon 2, resulting in an amino acid change at codon 86 (p.Asn86Thr).@*Conclusion@#A novel HLA-B allele has been identified and officially named as HLA-B*51 159 by the WHO Nomenclature Committee for Factors of the HLA System. The three-dimensional structure of B*51 159 was simulated.