序列分析鉴定新等位基因HLA-B^＊1316

Identification of a novel HLA class Ⅰallele, B^＊ 1316

目的分析鉴定HLA-B位点的1个新等位基因。方法应用DNA序列分析常规PCR-SSO基因分型时发现的疑似HLA新等位基因,确认与同源性最高的HLA等位基因序列的差异。结果发现1个HLA-B位点分型结果异常的样本,其核苷酸序列与已知所有HLA-B位点等位基因序列不一致,与同源性最高的等位基因B*1302的差异,是在第3外显子区域中的第184位碱基发生了T→A的替换,导致第62位密码子由GTG→GAG,其编码的氨基酸由缬氨酸→谷氨酸。结论确认了HLA-B位点的1个新等位基因,已被WHO HLA因子命名委员会正式命名为HLA-B*1316。

Objective To analyze the nucleotide sequences of novel HLA class Ⅰ le, B^＊ 1316. Methods Routine sequence-specific oligonucleotide （SSO） typing and sequencing based typing （SBT） was used. Results The B^＊ 1316 allele differs from B^＊ 1302 by one nucleotide substitution in exon 3.. T to A at nt position 184, which results in an amino acid substitution at codon 62 from Val to Glu. Conclusion A novel HLA class Ⅰ allele, B^＊ 1316 has been identi- fied, and was officially recognized by WHO Nomenclature Committee in April 2006.