【摘要】 目的发现和认定1个HLA新等位基因。方法应用PCR-SSO基因分型技术筛选可能的HLA新等位基因,PCR产物测序,确认与最同源HLA等位基因序列的差异。结果发现一个样品的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,与同源性最高等位基因A*24020101的差异只是在第2外显子区域中的230位碱基发生了C→T碱基的替换,但并未改变第77密码子编码的氨基酸。结论该等位基因为HLA-A位点的1个新等位基因,已被WHO HLA因子命名委员会于2006年8月23日正式命名为HLA-A*240212。更多还原

【Abstract】 Objective To identify a novel HLA allele by sequence-based typing in Chinese population. Methyls A sample from a registered donor of Chinese Marrow Donor Program was analyzed by routine sequence- specific oligonucleotide(SSO) typing and sequence-based typing(SBT).Then the obtained sequence was compared with exiting sequences.Results A novel human leukocyte antigen-A (HLA-A) allele was identified.It’s se- quence is most closely related to the sequence of HLA-A* 24020101 allele.A* 240212 differs from allele A* 24020101 on 1 nucleotide position located in exon 2,at position 230,with‘C’in A*24020101 replaced by‘T’in the novel allele.While the nucleotide exchange at position 230 is a silent mutation and codon 77 remains unaf- fected as AAC->AAT.Conclusion A novel HLA allele has been identified,which was officially assigned as A *240212 by the WHO Nomenclature Committee for Factors of HLA System in August 2006.更多还原