HLA新等位基因HLA-B* 13∶42的确认及序列分析  

Identification and sequence analysis of a novel HLA-B* 13:42 allele

作　　者：王振雷[1] 苏蔓[1] 赵倩[1] 胡光磊[1] 李茵[1] 王远花[1] 郭霞[1] 钱明明[1] 赵佳[1] 戚海[1] 何路军[1] 

机构地区：[1]河北省血液中心,河北石家庄050071

出　　处：《中国输血杂志》2014年第1期22-23,共2页Chinese Journal of Blood Transfusion

摘　　要：目的认定1个人类白细胞抗原(HLA)新等位基因并分析其核苷酸序列。方法应用PCR-SBT进行HLA常规分型发现1个与HLA-B*13相关的异常等位基因,用针对于B*13的位点特异性SSSP引物测序,确认与同源性最高的HLA等位基因序列的差异。结果发现1个标本的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,与同源性最高的等位基因B*13:02:01的差异是在第3外显子445位的G>T,其突变导致密码子GCC>TCC,结果造成B*13:02:01氨基酸序列中125位的Ala丙氨酸(A)变为丝氨酸(S)。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(WHO)HLA命名委员会命名为HLA-B*13:42。Objective To identify and sequence analyze a novel human leukocyte antigen （HLA） allele. Methods Routine genotyping for HLA-B allele was performed with polymerase chain reaction-sequence based typing （PCR-SBT） method. The difference between the novel allele and the highest homology HLA allele was identified by sequencing with B ＊ 13 site-specific sequencing primer （SSSP） . Results The novel allele was found to be different from B ＊ 13：02：01 at position 445 G 〉 T in exon 3 ,which resulted in one amino acid change from Alanine（ GCC ） to Serine（ TCC ） at eoden 125. Conclusion The result suggests that this allele is a novel HLA allele and has been officially named HLA-B＊ 13：42 by WHO Nomenclature Committee.

关 键 词：人类白细胞抗原 分型 HLA—B 新等位基因 测序 

分 类 号：R457.11[医药卫生—治疗学]