新等位基因HLA-B^＊5812的认定

Identification of a novel human leukocyte antigen class Ⅰ allele B^＊5812

应用流式反向PCR-SSO和PCR-SSP基因分型技术发现可能的HLA新等位基因,对PCR产物进行HLA基因分型、DNA序列分析及克隆测序。发现一个样本的HLA-B位点结果异常,其核苷酸序列与已知所有HLA-B位点等位基因序列均不一致,与同源性最高的等位基因B*5801的差异在于第2外显子区域中的第69位碱基发生了G→T的替换,即"GCA→TCA",结果改变了第24位密码子编码的氨基酸,即"丙氨酸→丝氨酸"。判断该等位基因为HLA-B位点的一个新等位基因,已于2006年4月被WHOHLA因子命名委员会正式命名为HLA-B*5812。

A novel human leukocyte antigen （HLA） class Ⅰ allele is identified by polymerase chain reaction sequence-specific oligonucleotide （PCR-SSO） typing and polymerase chain reaction sequence-specific primer （PCR-SSP） typing. PCR products received HLA genotyping, DNA sequence analysis and clone sequence. It is found that abnormal HLA-B site results appear and nucleotide sequence is different from HLA-B allele sequence, as well as the B^＊5812 allele differs from the closest matching allele B^＊5801 by one nucleotide substitution in Exon 2, nt 69 （G-＊T）, resulting in an amino acid change from GCA-＊TCA at codon 24. A novel HLA class Ⅰ allele, B^＊5812 has been identified. B^＊5812 has been officially assigned by the WHO HLA Nomenclature Committee in April 2006.