Inherited 'mosaicism' within the ABO blood group system.
A family with examples of the rare condition known as 'inherited mosaicism affecting the ABO blood groups' has been studied. In this family there were five examples of Bmos:O mosaicism. Blood group gene-specified transferase estimations were studied in this condition for the first time. In 'affected' members, levels of B gene-specified transferase were low, and amounted to only 7--10% of the activity of a normal control. It is proposed that Bmos is correctly classified as a new form of weak B.
D000017:ABO Blood-Group System / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D014166:Transferases / Q000235:genetics; D014427:Twins; D014429:Twins, Dizygotic
D000017:ABO Blood-Group System; D014166:Transferases