Molecular genetic mechanism analysis and pedigree investigation of rare Bweak subgroup

Abstract

Objective: To analyze the molecular mechanism of rare B_weak 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 B_weak phenotype by conventional serological method. Her family's serological results were as follows, her father and eldest brother were B_weak 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 B_weak 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: B(weak) subgroup; Gene sequencing; Pedigree investigation; Point mutation; Serology.