新等位基因HLA-DRB1*1462的核苷酸序列分析

Identification of a Novel HLA Allele DRB11462 by Sequence-Based Typing

本研究验证一个新的HLA等位基因DRB1*1462的核苷酸序列。应用PCR-SSO和PCR-SSP基因分型技术对HLA分型,对怀疑是HLA新等位基因进行DNA测序。结果发现,该序列与已知的所有HLA-DRB1等位基因序列不一致,与HLA-DRB1*140101的序列差异仅表现在第2外显子区域中256位碱基发生了G->A的替换,导致相应的氨基酸由丙氨酸变为苏氨酸。结论:该基因是HLA-DRB1位点的一个新等位基因,已经被WHOHLA命名委员会于2006年1月30日正式命名为HLA-DRB1*1462。

This study was to identify a novel HLA-DRB1 allele in Chinese population by nucleotide sequence analysis. The HLA typing of genes was performed by PCR-SSO and PCR-SSP, the ambiguous novel allele was identitied by DNA sequence analysis. The results showed that the sequence of this new allele differed from DRB1 ＊ 140101 by one nucleotide substitution at position 256 in exon 2 （G - 〉 A）, resulting in an amino acid change from Ala to Thr at codon 57. In conclusion, this allele is a novel one, which has been officially given the name DRB1 ＊ 1462 by the WHO nomenclature committee in January 2006.