【摘要】 目的发现和认定HLA新等位基因HLA-A*1127。方法应用PCR-SSO基因分型技术筛选可能的HLA新等位基因,采用分子克隆和PCR产物直接测序方法得到核苷酸序列,通过软件分析基因序列及其与最同源HLA等位基因序列的差异。结果发现1个样品的HLA-A位点结果异常。其序列与已知所有HLA-A等位基因序列不一致,与同源性最高的等位基因A*1104的差异是在第三外显子区域的570位碱基发生G→C的替换,并导致了相应的166密码子由GAG→GAC,编码的氨基酸由谷氨酸(Glu)变成天冬氨酸(Asp);571位碱基发生T→G的替换,并导致相应的167密码子由TGG→GGG,编码的氨基酸由色氨酸(Trp)变成甘氨酸(Gly)。结论该等位基因为HLA新的等位基因,被WHOHLA因子命名委员会正式命名为HLA-A*1127。更多还原

【Abstract】 Objective To identify a novel human leukocyte antigen-A (HLA-A) allele from Chinese bone marrow donors.Methods Sequence-specific oligonucleotide (SSO) typing and sequencing-based typing(SBT) were employed to identify the sequence of a potencial novel HLA allele.Results The sequence of the novel allele was different from all other known HLA-A alleles. It had two nucleotides substitutes in Exon 3 at position 570 G→C,which resulted in an amino acid changed from G (GAG) to A (GAC) at codon 166 and at position 571 where T→G (codon 167 TGG→GGG) resulted in a coding change from T (TGG) →G(GGG).Conclusion A novel HLA allele is identified and officially designated as HLA-A*1127 by WHO nomenclature for factors of the HLA System.更多还原