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临床输血与检验

临床输血与检验 ›› 2024, Vol. 26 ›› Issue (6): 762-765.DOI: 10.3969/j.issn.1671-2587.2024.06.008

• 临床输血 • 上一篇    下一篇

8例RhD变异型的血清学特征及基因序列分析

郑妍, 王文婷, 杨龙飞, 王琼, 穆士杰   

  1. 空军军医大学唐都医院,西安 710038
  • 收稿日期:2024-04-08 出版日期:2024-12-20 发布日期:2024-12-20
  • 通讯作者: 穆士杰,主要从事临床输血研究,（E-mail）musj1963@fmmu.edu.cn。
  • 作者简介:郑妍,主要从事免疫血液学及临床输血研究,（E-mail）445008175@qq.com。

Serological Characteristics and DNA Sequence Analysis of Patients with RhD Variant

ZHENG Yan, WANG Wenting, YANG Longfei, WANG Qiong, MU Shijie   

  1. Department of Blood Transfusion, Tangdu Hospital Air Force Military Medical University, Xi'an 710038
  • Received:2024-04-08 Online:2024-12-20 Published:2024-12-20

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摘要： 目的 探讨RhD变异型患者的血清学特征及基因序列分析。方法 采用微柱凝胶卡式法对拟输血患者进行ABO及RhD血型检测,对RhD抗原减弱及阴性标本进行盐水试管法复查和RhD阴性确认试验,对检出的D变异型样本进行基因检测。结果 726例RhD抗原减弱及阴性标本经RhD阴性确认试验共检出8例D变异型,该8例样本经基因测序共检出7种基因型分别为RHD*01W.72/RHD*01N.01、RHD*15/RHD*D-CE(2)-D、RHD*01EL.01/RHD*15、RHD*D-CE(3-9)-D/RHD*01N.01、RHD*15/RHD*01N.01、RHD-496G/RHD*01N.01和RHD*01EL.01/RHD*01W.71。其中,2例RHD*15/RHD*01N.01为弱D15型;1例RHD*01W.72/RHD*01N.01为弱D72型;2例RhD和RhCE基因重组,分别为RHD*15/RHD*D-CE(2)-D和RHD*D-CE(3-9)-D/RHD*01N.01;1例RHD-496G/RHD*01N.01的c.496C>G为新的RHD变异位点,已向GenBank数据库提交确认申请;3例两条配子基因均出现突变,其中2例为新的组合方式：RHD*15/RHD*D-CE(2)-D和RHD*01EL.01/RHD*01W.71。6例样本进行了RhCE表型检测,其中5例样本含有C抗原,占83.3%,以Ccee表型居多,3例,占50%。结论 血清学检测联合基因测序有助于发现血型表现型和基因型特点,为了解RhD变异型及指导临床输血提供参考。

关键词: RhD血型, D变异型, 基因分型, 基因序列分析

Abstract: Objective To investigate the serological characteristics and DNA sequence of patients with RhD variant. Methods The ABO and RhD blood groups of the patients to be transfused were determined using the microcolumn gel method. The specimens showing weakened or negative RhD antigen reactions were further evaluated using the saline test tube method and RhD negative confirmation test. Additionally, DNA sequence detection was performed in the identified D-variant samples. Results A total of 8 cases of D variant were detected in 726 patients with decreased RhD antigen and negative samples by RhD negative confirmation test. A total of 7 genotypes were detected by DNA sequencing in the 8 samples, include RHD*01W.72/RHD*01N.01, RHD*15/RHD*D-CE(2)-D, RHD*01EL.01/RHD*15, RHD*D-CE(3-9)-D/RHD*01N.01, RHD*15/RHD *01N.01, RHD-496G/RHD*01N.01, and RHD*01EL.01/RHD*01W.71. Two cases of RHD*15/RHD*01N.01 were of weak D type 15. 1 case of RHD*01W.72/RHD*01N.01 was weak D type 72; Two cases of RhD and RhCE gene recombination were RHD*15/RHD*D-CE(2)-D and RHD*D-CE(3-9)-D/RHD*01N.01, respectively. 1 case of RHD-496G/RHD*01N.01 with c.496C>G mutant was a new RHD mutation site, and the application for confirmation was submitted to GenBank database. Three cases had mutations in both gametic genes, of which two were new combinations: RHD*15/RHD*D-CE(2)-D and RHD*01EL.01/RHD*01W.71.RhCE phenotype was detected in 6 samples, 5 samples of which contained C antigen, accounting for 83.3%,The majority of cases were Ccee phenotype (3 cases, 50%). Conclusion Serological detection combined with DNA sequencing can help to discover phenotype and genotype characteristics of blood group, and provide reference for understanding RhD variants and clinical transfusion.

Key words: RhD blood type, D variant, Genotyping, Gene sequence analysis

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