新等位基因 HLA- DPB1*02:01:69的序列分析和确认  

Sequence analysis and identification of a novel HLA-DPB1*02:01:69 allele by third-generation sequencing

作　　者：何亿镇 陈男英[1] 赵烁贤 董丽娜[1] 王芳[1] 朱发明[1] He Yizhen;Chen Nanying;Zhao Shuoxian;Dong Li′na;Wang Fang;Zhu Faming(Blood Center of Zhejiang Province,Hangzhou,Zhejiang 310052,China)

机构地区：[1]浙江省血液中心,杭州310052

出　　处：《中华医学遗传学杂志》2024年第10期1176-1181,共6页Chinese Journal of Medical Genetics

基　　金：浙江省医药卫生科技计划项目(2024KY940、2021KY651、2022KY733、2023KY658)。

摘　　要：目的探讨1名受试者的HLA-DPB1新等位基因序列。方法选取来源于2022年5月入浙江省血液中心血小板配合性输注的献血者资料库的1名献血者的血液样本,应用Ion Torrent S5平台的二代测序(NGS)技术对该献血者标本进行HLA基因分型,并采用Illumina Miseq平台的NGS技术、Nanopore平台的三代测序(TGS)技术对标本HLA-DPB1位点进行分型验证。本研究通过浙江省血液中心医学伦理委员会的审查(伦理号:2021-001)。结果基于Ion Torrent S5的NGS分型结果,提示标本存在HLA-DPB1*02新等位基因,最接近的基因型为HLA-DPB1*02:new,17:01:01G,变异位于第3外显子。而基于Illumina Miseq的NGS分型结果,提示存在HLA-DPB1*17新等位基因,最接近的基因型为HLA-DPB1*02:01:02G,17:new。TGS技术的结果显示,标本存在一个HLA-DPB1*17:01:01:01等位基因,另一个为HLA-DPB1*02新等位基因。与HLA-DPB1*02:01:02:01相比,新等位基因在第3外显子c.369G>A变异,但不引起氨基酸改变。结论1个HLA-DPB1新等位基因通过NGS与TGS发现并验证,该新等位基因被HLA系统因子命名委员会命名为HLA-DPB1*02:01:69。ObjectiveTo analyze the sequence of a novel HLA-DPB1 allele in an individual.MethodsA individual identified from the database of blood donors for matched platelet transfusion at the Blood Center of Zhejiang Province in May 2022 was selected as the study subject.HLA genotype of the individual was determined by next-generation sequencing(NGS)on an Ion Torrent S5 platform.The sequence of the HLA-DPB1 locus was also determined by NGS on an Illumina Miseq platform and third generation sequencing using Oxford Nanopore MinION.This study was approved by Medical Ethics Committee of the Blood Center of Zhejiang Province(Ethics No.2021-001).ResultsA novel HLA-DPB1*02 allele was identified in the specimen,for which the closest genotype was HLA-DPB1*02:new,17:01:01G,with the variant located in exon 3.Meanwhile,the NGS also revealed a novel HLA-DPB1*17 allele,with the closest genotype being HLA-DPB1*02:01:02G,17:new.Both the HLA-DPB1*17:01:01:01 and novel HLA-DPB1*02 alleles were identified by third-generation sequencing.Compared with the HLA-DPB1*02:01:02:01 allele,the novel allele had a G>A variation at position 369 in the exon 3,which did not result in amino acid change.ConclusionA novel HLA-DPB1 allele has been identified and validated by both NGS and TGS,which has been named as HLA-DPB1*02:01:69 by the World Health Organization Committee on Nomenclature of Factors of the HLA System.

关 键 词：等位基因 HLA-DPB1 二代测序 三代测序 

分 类 号：R457.1[医药卫生—治疗学]