摘要
目的:确认1个人类白细胞抗原(HLA)新等位基因。方法:应用多聚酶链反应-基于测序的分型技术(PCR-SBT)法对中华骨髓库河北地区捐献者进行HLA常规分型并利用序列特异性SSSP引物测序,鉴定HLA新等位基因。结果:发现该标本的HLA-B位点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,不能指定为任何等位基因,其中一个等位基因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206位的T>C,其突变导致密码子ATG>ACG,结果造成B*15:01:01:01氨基酸序列中45位的甲硫氨酸(M)变为苏氨酸(T)。结论:该等位基因为HLA-B位点的1个新等位基因,该基因被世界卫生组织HLA命名委员会命名为HLA-B*15:202。
Objective：To confirm a new HLA alleles.Method：HLA typing of Chinese marrow donors in Hebei region were done using PCR-SBT method and a novel HLA alleles was identified using conventional locus-specific primers SSSP sequencing.Result：The nucleotide sequences of HLA-B locus of a specimen was inconsistent with the nucleotide sequence of all known alleles of HLA-B locus and the difference between it and the highest homology allele B＊15：01：01：01 was in the second exon of 206T〉C,which mutation resulted in a codon ATG〉ACG,resulting in the change of amino acid 45 sequence of B＊15：01：01：01from methionine（M）to threonine（T）.Conclusion：This was a new allele HLA-B locus alleles of the gene which was named as HLA-B＊15：202by World Health Organization（WHO）HLA Nomenclature Committee.
出处
《临床血液学杂志（输血与检验）》
CAS
2015年第3期465-467,共3页
Journal of Clinical Hematology(Blood Transfusion & Laboratory Medicine)
基金
河北HLA-I类基因和HPA基因及频率研究在临床血小板输注无效中的应用2012年度医学适用技术跟踪项目(No:GL2012020)
