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

Molecular biology and molecular genetics play an extremely important role in identifying ABO sub-groups.

Blood group was detected by conventional serological method, and ABO gene was amplified and sequenced by PCR method.

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.

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.