HLA新等位基因HLA-A*1127认定

Identification of a Novel Human Leukocyte Antigen-A Allele

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。

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 FILA allele is identified and officially designated as HLA- A ＊ 1127 by WHO nomenclature for factors of the HLA System.