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临床输血与检验

临床输血与检验 ›› 2016, Vol. 18 ›› Issue (5): 427-429.DOI: 10.3969/j.issn.1671-2587.2016.05.006

• 血型研究 • 上一篇    下一篇

1例新等位基因HLA-DRB1*0918的筛查及序列分析

刘锋, 孙昂, 粟玉萍, 代敏   

  1. 414000 湖南省岳阳市中心血站
  • 收稿日期:2016-03-20 出版日期:2016-10-20 发布日期:2017-05-19
  • 作者简介:刘锋（1982-）,男,湖南耒阳人,主管技师,学士,主要从事HLA分型、HPA分型、亲子鉴定及疑难血型鉴定工作,（Tel）13762098737（E-mail）4819271@qq.com。

A New Allele Example of Search and Sequence Analysis of HLA-DRB1*0918

LIU Feng, SUN Ang, SU Yu-ping, et al   

  1. Yueyang City Center Blood Stations 414000
  • Received:2016-03-20 Online:2016-10-20 Published:2017-05-19

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摘要： 目的 了解和确认人类白细胞抗原（HLA）新等位基因并分析其核苷酸序列。方法 采用聚合酶链反应-直接测序技术（PCR-SBT）方法对岳阳地区7 500名造血干细胞捐献志愿者进行HLA-DRB1高分辨率分型,发现1个与HLA- DRB1*09:01:02序列相近的新等位基因,采用针对DRB1*09位点特异性SSP引物测序,确认该等位基因与DRB1*09:01:02序列的差异。结果 该基因与DRB1*09:01:02相比在第2外显子 276位C>A,其突变导致密码子AGC>AGA, 63位S（丝氨酸）>R（精氨酸）,该基因序列已提交GenBank,编号为1523488。结论 该等位基因经过核苷酸序列分析得出其为新的HLA-DRB1等位基因,该基因已于2013年5月22日被世界卫生组织（WHO）HLA命名委员会命名为HLA-DRB1*09:18。

关键词: 新等位基因, 测序, 人类白细胞抗原

Abstract: Objective To understand and confirm the new human leukocyte antigen (HLA) allele and analyze its nucleotide sequence. Methods Using the direct sequencing method of polymerase chain reaction (PCR-SBT), we analyzed 7 500 hematopoietic stem cell donators with HLA-DRB1 high-resolution classification in Yueyang area and found one example appeared close to HLA-DRB1*09:01:02 sequence of new allele. We made confirmation with the sequencing technique SSP sequencing primers which used for DRB1*09 site specificity and verified the its differences from DRB1* 09:01:02 sequence. Results The gene in exon 2 compared with DRB1*09:01:02 276 C>A, its mutations can lead to codon AGC>AGA, 63 S(ser)>R(arginine), has been submitted to GenBank, the gene sequence Numbers for 1523488. Conclusion The allele was obtained by the nucleotide sequence analysis of the new HLA-DRB1 allele, which was named as HLA-DRB1*09:18 in May22, 2013 by the World Health Organization (WHO) HLA Nomenclature Committee.

Key words: New allele, Sequencing, HLA

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