DNA序列分析鉴定新的HLA等位基因A＊29：49  

Identification of a novel HLA allele A ＊ 29.. 49 using sequence based typing

作　　者：陈妍[1] 李玉杰 徐晓洁 翟培聪 张毅[1] 朱传福[1] 

机构地区：[1]山东省血液中心,济南250014 [2]山东省食品药品检验研究院,济南250101

出　　处：《中华医学遗传学杂志》2016年第6期841-843,共3页Chinese Journal of Medical Genetics

基　　金：山东省自然科学基金资助项目（ZR2012CM031）

摘　　要：目的应用测序分型技术（sequence based typing，SBT）方法鉴定一个中国汉族人群中发现的新HLA-A等位基因。方法应用双链直接测序分型技术进行中华骨髓库志愿捐献者常规HLA分型，发现1例在HLA-A位点无完全匹配结果，采用等位基因特异性扩增测序分型方法进行新等位基因序列鉴定。结果发现一个等位基因为新HLA-A基因序列，与同源性最高的等位基因：HLA-A＊29：01：01：01相比，在碱基368位A→T改变，密码子99位TAT→TTT，编码氨基酸Y→F，另一等位基因确认为A＊02：06：01。结论鉴定了一个新HLA-A等位基因，被世界卫生组织HLA因子命名委员会正式命名为HLA→A＊29：49。Objective To report on a novel HLA-A allele, A＊ 29：49, identified in a Chinese H an population by sequence based typing （SET）. Methods A donor from China Marrow Donor Programme （CMDP） was typed with a bi-allelic PCR-SBT kit, and no full matched result was obtained for the HLA-A locus. The novel HLA allele was verified with an allele-specific amplification SBT kit. Results A novel HLA-A allele was identified, which has differed by one nucleotide from the closest matched allele, HLA-A ＊ 29 ： 01 ： 01 ： 01, at position 368 （A→T）, codon 99 （TAT→TTT）, resulting in an amino acid substitution （Y→F）. Another allele was verified as A ＊ 02：06：01. Conclusion A novel HLA-A allele was identified and officially named as HLA-A ＊ 29：49 by the WHO Nomenclature Committee for Factors of the HLA System.

关 键 词：人类白细胞抗原 新等位基因 A*29 49等位基因 基于序列的分型技术 

分 类 号：R4[医药卫生—临床医学]