测序确定人类白细胞抗原新等位基因DRB1*1461

目的 确定HLA-DR位点的一个新等位基因.方法 应用聚合酶链反应-序列分型(polymerase chain reaction sequence-based typing,PCR-SBT)方法对1例白血病患者HLA-DR位点进行基因分型.结果 新等位基因碱基序列与已知的HLA-DR位点的等位基因都不相同,同源性最高是HLA-DRBl*1404,只有1个碱基的差别,以第2外显子第1位为起点,第33位T→C,17位密码子编码的氨基酸由酪氨酸(Tyr)变为组氨酸(His).结论 该等位基因为HLA-DR位点新等位基因,2006年5月被世界卫生组织命名委员会正式命名HLA-DRB1*1461.

To identify a novel HLA-DRB1 allele in Chinese by sequencing

Objective To identify a novel HLA-DRB1 allele in Chinese. Methods A novel HLA-DR allele was detected by PCR-SSP and SBT in a patient with leukemia. Results The sequence of the novel allele was different from all other known alleles. The novel allele differed from the closet matching allele HLA-DRB1 * 1404 by one nucleotide substitution in exon 2,at position 33 T→C,this resulted in an anmino acid change from Tyr to His at codon 17. Conclusion The novel allele is confirmed as a new HLA allel and it was officially named HLA-DRB1 * 1461 by WHO Nomenclature Committee in May,2006.