新等位基因HLA-DRB1*12:1061例的确认  

Identification of a case with novel HLA-DRB1*12:106 allele

作　　者：董丽娜[1] 陈男英[1] 何亿镇 章伟[1] 朱发明[1] Dong Li′na;Chen Nanying;He Yizhen;Zhang Wei;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》2025年第2期151-155,共5页Chinese Journal of Medical Genetics

基　　金：浙江省医药卫生科技计划项目(2022KY733、2024KY939)。

摘　　要：目的鉴定HLA新等位基因HLA-DRB1*12:106的核苷酸序列。方法以1名浙江省血液中心2023年入库检测的血小板献血者为研究对象,用基于AllType NGS 11位点、AllType FASTplex NGS试剂的二代测序以及Sanger测序方法对其进行HLA基因分型。用uTYPE 7.3和TypeStream Visual 3.0软件分别判定两种测序方法提示的献血者HLA基因型。本研究通过了浙江省血液中心伦理委员会的审查(批准号:省血液中心伦审2022年研第001号)。结果发现献血者携带1个HLA-DRB1*12新等位基因,将其全部编码序列(801 bp)提交GenBank数据库(编号为OR101190)。该序列被世界卫生组织HLA系统因子命名委员会正式命名为HLA-DRB1*12:106(提交编号为HWS10066755)。与其同源性最高的HLA-DRB1*12:01:01:01等位基因序列相比,HLA-DRB1*12:106第2外显子第344位的碱基T变异为G,导致第86位的缬氨酸替换为甘氨酸。献血者的HLA基因型被确定为HLA-A*02:01,11:01;-B*13:02,40:01;-C*01:02,03:03;-DRB1*07:01,12:106;-DRB3*01:01;-DRB4*01:03;-DQA1*02:01,04:01;-DQB1*02:02,04:02;-DPA1*01:03,01:03;-DPB1*02:01:02G,04:01:01G。结论在中国人群中确认了1个新的HLA-DRB1等位基因,其变异氨基酸位于β链的肽结合区,可能影响潜在抗原肽的结合特性。ObjectiveTo identify the nucleotide sequence of a novel HLA-DRB1*12:106 allele.MethodsA blood donor who was joined into the database for platelet matching transfusion at the Blood Center of Zhejiang Province in 2023 was selected as the study subject.HLA genotyping was carried out through next-generation sequencing based on AllType NGS 11 locus,AllType FASTPlex NGS reagents,and Sanger sequencing method.The HLA genotype of the donor by Sanger sequencing and next generation sequencing were assigned by using uTYPE 7.3 and TypeStream Visual 3.0 software,respectively.This study was approved by Medical Ethics Committee of the Zhejiang Blood Center(Ethics No.Provincial Blood Center Ethics Review 2022 Research No.001).ResultsA novel HLA-DRB1*12 allele has been identified,and the full coding sequence has been submitted to the GenBank database(No.OR101190),and the length of submitted sequence was 801 bp,which was officially named as HLA-DRB1*12:106 by the WHO Nomenclature Committee for Factors of the HLA System(submission No.HWS10066755).Compared with the sequence of the highest homology(HLA-DRB1*12:01:01:01 allele),a single nucleotide change was identified at position 344 T>G in the exon 2 of the HLA-DRB1*12:106,which has resulted in replacement of Valine by Glycine at residue 86.The HLA genotype of the proband was determined as HLA-A*02:01,11:01;-B*13:02,40:01;-C*01:02,03:03;-DRB1*07:01,12:106;-DRB3*01:01;-DRB4*01:03;-DQA1*02:01,04:01;-DQB1*02:02,04:02;-DPA1*01:03,01:03;-DPB1*02:01:02G,04:01:01G.ConclusionA novel HLA-DRB1 allele has been identified in the Chinese population.The mutated amino acid,located in the peptide binding region of theβchain,may affect the binding characteristics of antigen peptides.

关 键 词：HLA-DRB1基因 二代测序 Sanger测序 

分 类 号：R446.6[医药卫生—诊断学]