Molecular genetic mechanism analysis and pedigree investigation of rare Bweak subgroup



      To analyze the molecular mechanism of rare Bweak subgroup in the ABO blood group system and conduct pedigree investigations.


      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.


      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.


      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.


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