• 中国科学论文统计源期刊
  • 中国科技核心期刊
  • 美国化学文摘(CA)来源期刊
  • 日本科学技术振兴机构数据库(JST)
临床输血与检验

临床输血与检验 ›› 2021, Vol. 23 ›› Issue (6): 728-731.DOI: 10.3969/j.issn.1671-2587.2021.06.012

• 临床输血 • 上一篇    下一篇

3个HLA-A新等位基因的序列分析及确认*

尚利侠, 齐珺, 武君华, 陈乐, 王满妮, 王小芳, 房婕, 王天菊   

  1. 710061 西安,陕西省血液中心
  • 收稿日期:2021-03-03 出版日期:2021-12-20 发布日期:2021-12-21
  • 通讯作者: 王天菊,女,副主任技师,硕士,主要从事HLA分型确认工作,（E-mail）wangtianju2007@163.com。
  • 作者简介:尚利侠（1984-）,女,陕西咸阳人,主管技师,本科,主要从事HLA分型方面工作,（E-mail）279509877@qq.com。
  • 基金资助:
    *本课题受西安市科技计划项目（No.20YXYJ0009）; 西安市科技计划项目（No.201805095YX3SF29）; 中国造血干细胞捐献者资料库（CMDP）资助

Sequences Analysis and Identification of Three New HLA-A Alleles

SHANG Li-xia, QI Jun, WU Jun-hua, et al   

  1. Shaanxi Blood Center, Xi'an 710061
  • Received:2021-03-03 Online:2021-12-20 Published:2021-12-21

RichHTML

7

PDF

1109

摘要： 目的 确认3个HLA新等位基因,并分析其核苷酸和氨基酸序列。方法 应用DNA测序分型技术（Sanger测序）对2018年中国造血干细胞捐献者资料库入库样本A/B/C/DRB1/DQB1位点进行常规检测,采用二代测序（Next Generation Sequence,NGS）方法对Sanger测序检测到A位点无匹配结果的3个样本进行测序确认,所得序列与已知同源性最高的等位基因序列进行比对,分析其核苷酸序列的差异。结果 样本1与其同源性最高的A*02:07:01相比,第3外显子520碱基发生G>A变异,导致第174位密码子GCC>ACC,氨基酸由丙氨酸（Ala）变成苏氨酸（Thr）;样本2与其同源性最高的A*02:06:01相比,第4外显子641碱基发生C>T变异,导致第214位密码子ACT>ATT,氨基酸由苏氨酸（Thr）变成异亮氨酸（Ile）;样本3与其同源性最高的A*02:01:01相比,第4外显子652碱基发生G>C变异,导致第218位密码子GTC>CTC,氨基酸由缬氨酸（Val）变成亮氨酸（Leu）。结论 3个等位基因均为HLA-A新等位基因,被世界卫生组织HLA因子命名委员会分别正式命名为：HLA-A*02:897、HLA-A*02:898、HLA-A*02:899。

关键词: HLA等位基因, 碱基变异, 二代测序

Abstract: Objective To identify three novel alleles of HLA-A, analyze their nucleotide and amino acid sequences. Methods Three novel alleles were initially detected by DNA sequencing typing (Sanger sequencing), then the sample sequenced by Next Generation Sequence (NGS) to confirm the mutation allele and locus. Results The first new allele sequence was different from that A*02:07:01 at the position 520 (G>A) in exon 3, which results in an amino acid change from Ala to Thr at codon 174. The second new allele sequence was different from that A* 02:06:01 at the position 641 (C>T) in exon 4, which results in an amino acid change from Thr to Ile at codon 214. The third new allele sequence was different from that A* 02:01:01 at the position 652 (G>C) in exon 4, which results in an amino acid change from Val to Leu at codon 218. Conclusion All three alleles were new HLA-A alleles which have been designated as: HLA-A*02:897, HLA-A*02:898, HLA-A*02:899 by the Word Health Organization (WHO) HLA Nomenclature Committee.

Key words: HLA allele, Amino acid change, Next Generation Sequence

中图分类号: