Serological and molecular genetic analysis of a family with B(A) blood type / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To analyze the blood type of a family with B(A) blood type.@*METHODS@#The serological blood type of the family was determined by routine tube method. Exons 6 and 7 of the ABO gene were amplified by PCR and subjected to Sanger sequencing.@*RESULTS@#Serological testing of the proband and her elder son showed a discrepancy which was initially identified as B(A) subtype. Her husband and second son were identified as blood type O. Sequencing of the proband and her elder son has identified an O allele and a 640A>G mutation compared with the B gene. Her husband and second son possessed the same genotype of O/O.@*CONCLUSION@#The 640A>G mutation of ABO gene probably underlies the B(A) subtype.