Molecular Genetic Analysis and Pedigree Investigation of ABO*BA.02

BACKGROUND: Molecular biology and molecular genetics play an extremely important role in identifying ABO sub-groups. METHODS: Blood group was detected by conventional serological method, and ABO gene was amplified and sequenced by PCR method. RESULTS: The proband's red cell grouping results were AwB or B(A) subgroup and the serum grouping was B group. ABO blood group genotype of the proband and her parents were ABO*BA.02/ABO*O.01.01, ABO*B.01/ ABO*O.01.01 and ABO*BA.02/ABO*B.01, respectively. CONCLUSIONS: Blood group serology and molecular diagnostic techniques can accurately identify the rare B (A) 02 subgroup, pedigree analysis showed that the proband's BA.02 allele mutation came from her mother. Its allele was a point mutation of c.700C>G on the basis of ABO*B.01.