Molecular genetic analysis of a family trio with weak B phenotype / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore serological and molecular characteristics of a family trio with weak B phenotype.@*METHODS@#ABO blood type of the family was determined with a serological method. Genotypes of the ABO gene were determined with PCR-sequence specific primer (PCR-SSP). Sequences of exons 6 and 7 of the ABO gene were analyzed by PCR sequence-based testing.@*RESULTS@#Serologically, the proband and her father were determined as B subtype (Bw), while her mother was of O group. The genotypes of the proband and her father were Bw12/O, while her mother was O01/O01. Sequencing of exons 6 and 7 of the ABO gene confirmed that the proband and her father were Bw12/O01. Compared with B101/O01, the Bw12 subtype carried a missense mutation (278C>T) in exon 6 of the ABO gene.@*CONCLUSION@#The 278C>T mutation probably underlies the Bw phenotype and can be transmitted stably.