关键词: 人类白细胞抗原, 测序, 组序列特异性引物, 新等位基因

Abstract: Objective To identify a novel HLA-B allele in Chinese hematopoietic stem cell donors. Methods A rare HLA-B allele was initially detected by Luminex PCR-SSO typing,then the sample was sequenced by sequence-based typing （SBT） and the group-specific sequencing primer（GSSP） to confirm the mutation allele and locus. Results The sequence of the novel allele was different from that of B*67：01：01 at the position 370（G>A） in exon 3,which results in an amino acid change from Gly to Ser at codon 100. Conclusion This allele is a new HLA-B allele which has been designated as HLA-B*67：07 by the World Health Organization（WHO） HLA Nomenclature Committee.

Key words: Human leukocyte antigen, Sequence based typing, Group-specific sequencing primer, Novel allele