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
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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.
