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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 validated the nucleotide sequence of a new HLA allele, DRB1 * 1462. HLA typing was performed using PCR-SSO and PCR-SSP genotyping techniques, and DNA sequencing was performed on suspected new HLA alleles. As a result, it was found that this sequence was not identical to all known HLA-DRB1 allele sequences, and the sequence difference to HLA-DRB1 * 140101 was only shown to be a substitution of G-> A at position 256 in the second exon region , Resulting in the corresponding amino acid from alanine to threonine. Conclusion: This gene is a new allele of HLA-DRB1 locus and has been officially named HLA-DRB1 * 1462 by WHOHLA Nomenclature Committee on January 30, 2006.