新等位基因HLA-DRB*116:36的鉴定及确认  

Identification of A Novel HLA Allele DRB1* 16: 36 by SequencingBased Typing

作　　者：卢丽君[1,2] 左维泽[2] 张万江[1] 章乐[1] 吴芳[1] 吴江东[1] 

机构地区：[1]石河子大学医学院教育部重点实验室 [2]石河子大学医学院第一附属医院感染科,新疆石河子832000

出　　处：《中国实验血液学杂志》2015年第5期1455-1458,共4页Journal of Experimental Hematology

基　　金：国家自然科学基金(81160001)

摘　　要：目的:鉴定和确认中国人群HLA新等位基因DRB1*16:36。方法:应用PCR-SBT技术对新疆维吾尔族人群血液提取的DNA进行分型,对可能的新等位基因采用组序列特异性引物和单链测序基因分型技术进行测序,与已知同源性最相似基因的序列进行对比,分析两组序列的差异。结果:新等位基因与其同源性最相似的等位基因DRB1*16:23相比,其差异在于第227和236位碱基由A→T和T→C,分别引起第47位氨基酸由酪氨酸→苯丙氨酸、第50位氨基酸由缬氨酸→丙氨酸。结论:确认了该等位基因为HLA-DRB1的一个新等位基因,并被世界卫生组织HLA因子命名委员会正式命名为HLA-DRB1*16:36。Objective : To identify a novel HLA allele DRB1* 16: 36 from a Uygur woman. Methods: PCR-SBT technology was applied to the extracted DNA for genotyping,and a possible new gene was sequenced by using sequence specific primers and single stranded SBT. This novel allele was compared with known most homologous gene sequences and their difference was analyzed. Results: This novel allele was different from HLA alle DRB1 * 16: 23,and had highest similarity in 2 nucleotides at position 227 A→T and 236 T→C in exon 2,resulting in 3 amino acid changes from Tyr to Phe at codon 47 and Val to Ala at codon 50. The sequence of this novel allele had been submitted to GenBank.Conclusion: This HLA allele DRB1* 16: 23 has been confirmed to be a novel allele,and has been officially named DRB1* 16: 36 by the World Health Organization( WHO) Nomenclature Committee in May 2015.

关 键 词：人类白细胞抗原 HLA-DRB1*16 基因分型 

分 类 号：R394[医药卫生—医学遗传学]