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临床输血与检验

临床输血与检验 ›› 2026, Vol. 28 ›› Issue (3): 405-410.DOI: 10.3969/j.issn.1671-2587.2026.03.017

• 调查研究 • 上一篇    下一篇

济南地区两例无偿献血者ABO亚型的鉴定及基于网络数据平台分析编码蛋白

陈秀莲1, 李璇2, 夏小叶1, 宗玉龙3   

  1. 1济南市血液供保中心质控部,山东济南 250000;
    2济南市血液供保中心机采部,山东济南 250000;
    3青岛大学附属泰安市中心医院检验科,山东泰安 271000
  • 收稿日期:2025-11-07 出版日期:2026-06-20 发布日期:2026-07-07
  • 通讯作者: 夏小叶,从事输血及血液质量管理相关工作,（E-mail）18954156130@163.com。共同通信作者：宗玉龙,主要从事分子生物学研究,（E-mail）zongyulong88@126.com。
  • 作者简介:陈秀莲,主要从事血液质量控制及输血研究工作,（E-mail）18553119589@163.com。

Identification of ABO Subtypes and Analysis of Coding Structural Proteins in Two Voluntary Blood Donors in Jinan Area

CHEN Xiulian1, LI Xuan2, XIA Xiaoye1, ZONG Yulong3   

  1. 1Blood Type Room, Jinan Blood Station, Jinan 250000;
    2Apheresis Department, Jinan Blood Station, Jinan 250000;
    3Taian Central Hospital Affiliated to Qingdao University, Taian Shandong 271000
  • Received:2025-11-07 Online:2026-06-20 Published:2026-07-07

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摘要： 目的 探讨ABO*A3.07/B.01和ABO*BEL.03/O.01.01两种ABO亚型的血清学和分子生物学特征,分析两种亚型的蛋白结构变化,并利用拉氏图验证编码蛋白结构的准确性。方法 对两名献血者的血液样本采用血清学方法和唾液血型物质进行初步检测,再通过荧光定量聚合酶链反应（PCR）分子生物学方法进行基因分型,并对其ABO基因外显子进行直接测序,用Alphafold3.0软件建立3D蛋白结构模型,PyMOL软件对预测的蛋白结构进行对比和分析,并用拉氏图（Ramachandran plot）对预测的蛋白结构模型进行优良验证。结果 献血者1血清学结果正定型A抗原呈弱凝集,与抗-A1不凝集,基因分型结果为ABO*A3.07/B.01;直接测序结果,与标准序列相比发现特异性位点c.467C>T、c.745C>T发生碱基突变,导致氨基酸的改变即p.Pro156Leu、p.Arg249Trp;蛋白结构模型预测分析在第249位氨基酸被替换后氢键数目减少。献血者2标本血清学结果正定型为O型,反定型B细胞侧为弱凝集,正反定型不一致,基因分型结果为ABO*BEL.03/O.01.01,直接测序发现特异性位点c.502C>T发生突变即p.Arg168Trp;蛋白结构模型预测分析在第168位氨基酸被替换后氢键数目减少。两例ABO亚型蛋白结构模型图通过拉氏图验证结果优良。结论 通过分子生物学方法推测两例献血者ABO血型分别是ABO*A3.07/B.01和ABO*BEL.03/O.01.01,此两例亚型在济南地区献血人群中均为首次发现。

关键词: 拉氏图, ABO亚型, 蛋白结构, 无偿献血者

Abstract: Objective To investigate the serological and molecular biological characteristics of two ABO subtypes, ABO*A3.07/B.01 and ABO*BEL.03/O.01.01, analyze associated alterations in protein structure, and validate the accuracy of predicted protein structures using RamAchandran plots. Methods Blood samples from two donors were initially screened using serological techniques and detection of blood group substances in saliva. Genotyping was performed using fluorescent quantitative polymerase chain reaction (PCR), followed by sequencing of all exons of the ABO gene. Three-dimensional protein structure models were generated using AlphaFold 3.0. Comparative structural analysis was conducted using PyMOL software, and model reliability was assessed via RamAchandran plot evaluation. Results Donor 1: Serological forward typing showed weak agglutination with anti-A and no agglutination with anti-A1. Genotyping identified the subtype as ABO*A3.07/B.01. Sequence analysis identified two specific mutations, c.467C>T and c.745C>T compared to the standard sequence, resulting in amino acid changes p.Pro156Leu and p.Arg249Trp, respectively. Structural modeling indicated a reduction in hydrogen bonding following the substitution at position 249. Donor 2: Forward typing appeared as type O, while reverse typing showed weak agglutination with B cells. Genotyping identified the subtype as ABO*BEL.03/O.01. Direct sequencing detected a single mutation at c.502C>T, resulting in amino acid change p.Arg168Trp. Structural modeling indicated a reduction in hydrogen bonding following the substitution at position 168. Ramachandran plot validation confirmed the high quality of the predicted protein structure models for both subtypes. Conclusion Molecular analysis confirmed the two rare ABO subtypes as ABO*A3.07/B.01 and ABO*BEL.03/O.01.01, which were the first reported cases of blood donor population in Jinan region.

Key words: RamAchandran plots, ABO blood group subtypes, Protein structure, Voluntary blood donor

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