Imbalance of blood group A subtypes and the existence of superactive B gene in Japanese in Hiroshima and Nagasaki.

Blood type A can be classified into subgroups A1, A2, and A1-A2 intermediate on the basis of serological criteria. An excess of A2B over A2, noted in some black populations and among the Japanese, though not in caucasoids, is inconsistent with the classical Mendelian mode of inheritance of the allelic A1 and A2 genes. Characterization of the enzymatic properties of the blood group A and B enzymes in the serum has shown that serological A2B blood of some blacks contains A1 enzyme and a superactive B* enzyme. An excess of A2B found in a study of over 15,000 residents of Hiroshima and Nagasaki prompted investigation of the characteristics of the A and B enzymes in 60 blood samples, 37 from individuals in 13 unrelated families and 23 from other unrelated individuals in the two cities. Among 27 unrelated individuals whose blood types were unequivocally classified serologically as A2B, 15 were confirmed as A2B enzymatically; eight contained A1 and B* enzymes, not A2 or B enzymes, thus being A1B*; two contained Aint and B* enzymes, thus being AintB; and results for the remaining two were ambiguous. Hiroshima differs from Nagasaki in the frequency of the A2B serological type and also in the occurrence of the B* enzyme, Nagasaki having a higher proportion of both. If one considers those cases in which family study was possible, the transmission of the B* enzyme appears to be compatible with the Mendelian mode of inheritance.(ABSTRACT TRUNCATED AT 250 WORDS)