Biochemical genetics and mental retardation: a study of hemoglobins, Australia antigen and the enzymes pseudocholinesterase and glucose-6-phosphate dehydrogenase.
The study reports results of investigations on hemoglobin, pseudocholinesterase, Australia antigen and glucose-6-phosphate dehydrogenase in 153 mental retardates and 161 controls. beta-thalassemia and the hemoglobin phenotype AS occurred more in patients. At the pseudocholinesterase locus, the patients had significantly higher frequencies of E1a and E1f (p less than 0.001). Mental retardation was found to be associated also with presence of Australia antigen and with G-6-PD deficiency. A model to explain these findings has been proposed.
D002091:Butyrylcholinesterase / Q000378:metabolism*; D002802:Cholinesterases / Q000378:metabolism*; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism*; D006454:Hemoglobins / Q000032:analysis*; D006514:Hepatitis B Surface Antigens / Q000032:analysis*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000276:immunology / Q000378:metabolism
D006454:Hemoglobins; D006514:Hepatitis B Surface Antigens; D005954:Glucosephosphate Dehydrogenase; D002091:Butyrylcholinesterase; D002802:Cholinesterases