Abstract
Objective
To analyze the molecular mechanism of rare Bweak subgroup in the ABO blood group system and conduct pedigree investigations.
Methods
The blood group was detected by conventional serological method, and ABO gene of proband and her family was amplified and sequenced by polymerase chain reaction
method.
Results
The study showed that the proband was a Bweak phenotype by conventional serological method. Her family’s serological results were
as follows, her father and eldest brother were Bweak subgroup while her mother and second eldest brother were O group. The proband’s ABO gene sequencing result was ABO*BW.27/ABO*O.01.02. Her father, mother and two elder brothers were ABO*BW.27/ABO*O.01.01, ABO*O.01.01/ABO*O.01.02, ABO*BW.27/ABO*O.01.02, ABO*O.01.01/ABO*O.01.02.
Conclusion
Conventional blood group serology combined with molecular diagnostic technology can
accurately identify the Bweak subgroup, and the pedigree investigation analysis showed that the proband's allelic
mutation came from her father. She has gained a point mutation of c.905A>G on the
basis of ABO*B.01.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Transfusion and Apheresis ScienceAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- The advances and application of ABO blood group genotyping technology.Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2022; 30: 622-626
- Technical manual. 18th ed. American Association of Blood Banks (AABB), Bethesda2019: 303
- An exonic missense mutation c.28G>A is associated with weak B blood group by affecting RNA splicing of the ABO gene.Transfusion. 2017; 57: 2140-2149
- Study on serological and molecular biological characteristics of 3 cases with B subtype.J Clin Transfus Lab Med. 2020; 22: 506-509
- FRCPath. Human blood groups. 3rd ed. Blackwell Science Ltd, Oxford, UK2013https://doi.org/10.1002/9781118493595.ch2
- Proposed practical classification of weak B phenotypes B3, Bx, Bel.Rev Fr Transfus Immunohematol. 1976; 19: 89-104
- ABO sequence analysis in an AB type with anti-B patient.Chin Med J. 2014; : 971-972
- Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes.J Transl Med. 2021; 19: 470
- Molecular genetic analysis of weak ABO subgroups in the Chinese population reveals ten novel ABO subgroup alleles.Blood Transfus. 2019; 17: 217-222
- Molecular genetic analysis of a family trio with weak B phenotype.Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018; 35 (Chinese): 897-900
- BGMUT: NCBI dbRBC database of allelic variations of genes encoding antigens of blood group systems.Nucleic Acids Res. 2012; 40: D1023-D1029
- Molecular genetic analysis for the B subgroup revealing two novel alleles in the ABO gene.Transfusion. 2008; 48: 2442-2447
- Identify a novel B subgroup allele of al, 3 galactosyltransferase.Int J Blood Tranfusion Hematol. 2009; 5 (Chinese): 403-406
- Serological and molecular study of three cases with a rare Bx02 blood group.Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017; 34 (Chinese): 65-67
- Molecular genetic analysis of ABO blood group variations reveals 29 novel ABO subgroup alleles.Transfusion. 2013; 53: 2910-2916
- Retrospective analysis of molecular biology mechanism of ABO blood group typing discrepancy among blood donors in Jinan blood station.Transfus Clin Biol. 2022; 29: 75-78
Article info
Publication history
Published online: July 08, 2022
Accepted:
July 6,
2022
Received in revised form:
July 5,
2022
Received:
May 25,
2022
Identification
Copyright
© 2022 Elsevier Ltd. All rights reserved.
