摘要
目的 1个人类白细胞抗原(human leucocyte antigen,HLA)新等位基因的认定和序列分析。方法应用多聚酶链式反应—基于测序的分型技术(polymerase chain reaction-sequence based typing,PCR-SBT)对中国造血干细胞捐献者资料库河北分库捐献者进行HLA高分辨率分型,发现1个HLA-B位点的异常结果,应用序列特异性测序引物(sequence specific sequencing primer,SSSP)分离测序,确认发生突变的等位基因及发生突变的位置。结果发现1例标本的HLA-B位点分型结果不能认定为任何已知结果,利用SSSP引物进行分离测序后发现1条链的等位基因核苷酸序列与所有已知HLA-B位点等位基因核苷酸序列不一致,与同源性最高的等位基因B*15:01:01:01的差异是在第2外显子662位的A>T,其突变导致密码子CAT>CTT,结果造成B*15:01:01:01氨基酸序列中221位的组氨酸(H)变为亮氨酸(L)。结论该等位基因为HLA-B位点的1个新等位基因,被世界卫生组织(WHO)HLA系统命名委员会命名为HLA-B*15:201。
Objective To sequence and identify a novel HLA allele. Methods PCR-SBT method was used for HLA typing and an anomaly allele that is associated with HLA-B locus was analyzed, and sequence-specific sequencing primer(SSSP)was used for sequencing so as to confirm the site of mutation. Results The results showed an new allele of HLA-B locus. SSSP sequencing indicated that the nucleotide sequence of the novel allele is different from the highest homology allele B* 15:01:01: 01 in the second exon at position 662 A〉T, resulting in the amino acid sequence at position 221 of B *15:01:01:01, mutated from histidine(H) to leucine(L). Conclusion This is a novel HLA-B allele and has been named HLA-B* 15:201 by WHO HLA Nomenclature Committee.
出处
《临床输血与检验》
CAS
2016年第5期434-436,共3页
Journal of Clinical Transfusion and Laboratory Medicine
基金
2012年度医学适用技术跟踪项目(No.GL2012020)资助