Pseudocholinesterase activity and E1 phenotypes in Down's syndrome and mental retardation.
Pseudocholinesterase activity and the phenotypes controlled by the E1 locus have been determined in a sample of 307 Down's syndrome patients and 206 patients suffering from nonspecific mental retardation and compared to those in the healthy population. Both groups of patients have an elevated frequency of phenotypes possessing the rate E1f allele. The mentally retarded patients have a higher mean pseudocholinesterase activity than those with Down's syndrome who, in turn, have activity than the healthy controls.
D002091:Butyrylcholinesterase / Q000235:genetics*; D002802:Cholinesterases / Q000235:genetics*; D002874:Chromosome Mapping; D004314:Down Syndrome / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics*; D008297:Male; D010641:Phenotype
D002091:Butyrylcholinesterase; D002802:Cholinesterases