论文部分内容阅读
目的:确认HLA新等位基因HLA-A*01:130并分析其有异常反应格局的核苷酸序列。方法:应用DNA测序分型技术(PCR-SBT)进行HLA分型,对可疑新等位基因采用单链测序基因分型技术直接测定基因序列,分析其与同源性最高的HLA等位基因序列的差异。最后,经Swiss-Model对HLA分子进行三维结构模拟。结果:新基因与所有已知的HLA-A等位基因序列均不相同,与HLA-A*01:66基因序列相比在第3外显子368位碱基由A→G,导致第99位密码子改变,酪氨酸→半胱氨酸。替代氨基酸位于抗原肽结合区β片层上。结论:发现一个新的HLA-A等位基因,现已被世界卫生组织HLA因子命名委员会正式命名为HLA-A*01:130。
OBJECTIVE: To confirm the HLA-A allele HLA-A * 01: 130 and to analyze its nucleotide sequence with abnormal reaction pattern. Methods: The HLA genotypes were detected by PCR-SBT. The single nucleotide polymorphism (SNP) of the suspected new allele was used to directly determine the gene sequence. The HLA allele sequence with the highest homology The difference. Finally, three-dimensional structural simulation of HLA molecules by Swiss-Model. RESULTS: The new gene was different from all known HLA-A allelic sequences, with A → G at base 368 of exon 3 compared to the HLA-A * 01: 66 gene sequence, resulting in 99 Bit codon changes, tyrosine → cysteine. The replacement amino acid is located on the antigen peptide binding region beta sheet. Conclusion: A new HLA-A allele was found and has been officially named HLA-A * 01: 130 by the World Health Organization HLA Factor Nomenclature Committee.