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临床输血与检验

临床输血与检验 ›› 2024, Vol. 26 ›› Issue (6): 787-791.DOI: 10.3969/j.issn.1671-2587.2024.06.013

• 调查研究 • 上一篇    下一篇

25例B亚型/AB亚型的ABO基因序列分析*

李艳1, 周丽玲1, 马肇泽1, 祝凯捷1, 王辰龙2   

  1. 1徐州市红十字血液中心输血研究科,江苏徐州 221006;
    2徐州医科大学病理教研室,江苏徐州 221004
  • 收稿日期:2024-05-31 出版日期:2024-12-20 发布日期:2024-12-20
  • 通讯作者: 王辰龙,主要从事免疫血液学方面研究,（E-mail）wcl@xzhmu.edu.cn。周丽玲,主要从事血液管理方面研究,（E-mail）KKLL306@126.com。
  • 作者简介:李艳,主要从事免疫血液学方面研究,（E-mail）fangayana@126.com。
  • 基金资助:
    *本课题受2022年度江苏省输血协会英科新创科研基金项目（No.JS2022013）、2022年度徐州市科技局重点研发计划（社会发展）-医药卫生面上项目（No.KC22230）资助

Genotypic Identification and Sequence Analysis of B/AB Subtypes in 25 Cases

LI Yan, ZHOU Liling, MA Zhaoze, ZHU Kaijie, WANG Chenlong   

  1. Department of Blood Transfusion and Research, Xuzhou Red Cross Blood Center, Xuzhou, Jiangsu, 221006
  • Received:2024-05-31 Online:2024-12-20 Published:2024-12-20

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摘要： 目的 探讨25例B亚型/AB亚型标本的分子生物学机制。方法 应用PCR-SSP对血型血清学确认为B抗原减弱的标本进行ABO*B基因检测或应用Sanger一代测序技术对ABO基因的第6-7外显子或第1-7外显子测序;对最终无法定型的标本进一步用PacBio:SMRT三代测序技术进行检测。结果 25例B亚型/AB亚型标本均经过基因序列分析,共发现7种已知的ABO*B等位基因,分别为ABO*BW.27（3/25,12.00%）、ABO*BW.03（5/25,20.00%）、ABO*B3.03（2/25,8.00%）、ABO*BEL.03（1/25,4.00%）、ABO*BW.07（7/25,28.00%）、ABO*B3.05（1/25,4.00%）、ABO*BW.12（1/25,4.00%）;5种未知的ABO*B等位基因,其中已发表但未被ISBT收录的2例,分别为ABO*B.01 with c.28+5885C>T、ABO*B.01 with c.28+5875C>T,另外3例为本研究首次报道的ABO*B新等位基因,分别为ABO*B.01（with c.3G>C）、ABO*B.01（with c.28+5862A>G）、ABO*B.01（with c.204-3C>G）,均已被Genebank收录并公布。结论 研究阐释了25例B亚型/AB亚型的分子生物学机制,并发现了5例ABO*B新等位基因。该研究丰富了ABO*B等位基因基因库,为更好地制定输血策略提供了理论依据。

关键词: ABO血型, B亚型, AB亚型, 基因测序

Abstract: Objective To study the genotype and molecular biological characteristics of 25 samples which showed B/AB subtypes. Methods The ABO*B alleles were identified by PCR-SSP or ABO exons 6-7/1-7 were analyzed by Sanger sequencing technology. Unidentified samples were further detected by PacBio:SMRT sequencing technology. Results Genetic sequence analysis of 25 B subtype /AB subtype samples revealed 7 known ABO*B alleles, namely ABO*BW.27 (3/25, 12.00%), ABO*BW.03 (5/25, 20.00%), ABO*B3.03 (2/25, 8.00%), ABO*BEL.03 (1/25, 4.00%), ABO*BW.07 (7/25, 28.00%), ABO*B3.05 (1/25, 4.00%), ABO*BW.12 (1/25, 4.00%). There were 5 unknown ABO*B alleles, of which 2 published but not included in ISBT were ABO*B.01 with c.28+5885C>T, ABO*B.01 with c.28+5875C>T. The other 3 were ABO*B novel alleles reported for the first time in this study, namely ABO*B.01(with c.3G>C)、ABO*B.01(with c.28+5862A>G)、ABO*B.01(with c.204-3C>G). Those have been compiled and published by Genebank. Conclusion The study clarified the molecular biological mechanism of 25 B/AB subtype cases and identified 5 novel ABO*B alleles. It enriches the ABO*B gene bank and provides a theoretical basis for better transfusion strategies.

Key words: ABO blood group, B variant, AB variant, Gene sequencing

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