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 f...

Full description

Saved in:
Bibliographic Details
Published in:Human heredity 1979-01, Vol.29 (6), p.361-363
Main Author: Propert, David N.
Format: Article
Language:English
Subjects:
Butyrylcholinesterase - genetics
Cholinesterases - genetics
Chromosome Mapping
Down Syndrome - enzymology
Down Syndrome - genetics
Female
Humans
Intellectual Disability - enzymology
Intellectual Disability - genetics
Male
Original Paper
Original Papers
Phenotype
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 rare E₁ allele. The mentally retarded patients have a higher mean pseudocholinesterase activity than those with Down's syndrome who, in turn, have higher activity than the healthy controls.
ISSN:0001-5652
1423-0062
DOI:10.1159/000153073