HLA新等位基因HLA-B_*67:07测序分析及确认  

A Novel HLA-B~*67:07 Allele was Identified by Polymerase Chain Reaction-Sequence Based Typing

作　　者：王天菊[1] 陈利萍[1] 王小芳[1] 王满妮[1] 齐珺[1] WANG Tian-ju;CHEN Li-ping;WANG Xiao-fang(Shaanxi Blood Center ,Xi’an 710061)

机构地区：[1]陕西省血液中心,西安710061

出　　处：《临床输血与检验》2017年第5期482-486,共5页Journal of Clinical Transfusion and Laboratory Medicine

基　　金：中国造血干细胞捐献者资料库(CMDP)资助

摘　　要：目的人类白细胞抗原B新等位基因核苷酸序列分析及确认。方法采用序列特异性寡核苷酸探针技术(SSO)对2015年中国造血干细胞捐献者资料库(CMDP)人库数据进行HLA常规检测,结果显示有1个磁珠反应异常,进一步选择多聚酶链反应-测序(PCR-SBT)分型发现1个与HLA-B*67相关的有1个碱基不匹配的等位基因,选择对应的组特异性引物对该等位基因进行2次分离式测序,确认突变的等位基因和突变位点。结果发现1个与HLA-B~*67:01:01序列相近的新等位基因,实验结果表明在HLA-B~*67:0:01第3外显子370位置G>A,其突变造成HLA-B~*67:01:01氨基酸序列中100位的氨基端由甘氨酸(Gly)变成丝氨酸(Ser)。结论本次实验确认了1个新的HLA等位基因,2016年3月30日被世界卫生组织HLA因子命名委员会正式命名为HLA-B~*67:07。Objective To identify a novel HLA-B allele in Chinese hematopoietic stem cell donors.Methods A rare HLA-B allele was initially detected by Luminex PCR-SSO typing,then the sample was sequenced by sequence-based typing(SBT)and the group-specific sequencing primer(GSSP)to confirm the mutation allele and locus.Results The sequence of the novel allele was different from that of B*67:01:01at the position370(G>A)in exon3,which results in an amino acid change from Gly to Ser at codon100.Conclusion This allele is a new HLA-B allele which has been designated as HLA-B*67:07by the World Health Organization(WHO)HLA Nomenclature Committee.

关 键 词：人类白细胞抗原 测序 组序列特异性引物 新等位基因 

分 类 号：R392.4[医药卫生—免疫学] R457.1[医药卫生—基础医学]