New allele at cholinesterase locus 1.
Open Access
- 1 February 1976
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 13 (1) , 38-42
- https://doi.org/10.1136/jmg.13.1.38
Abstract
A family (H-J pedigree) segregating for the A and F alleles at cholinesterase locus 1 is described. Apparent anomalous results led to the recognition of a new allele (E1j) also segregating in the family. The data are consistent with the hypothesis that the the E1j causes reduction of 'usual' (E1u) molecules by about 66%. Whether this is because of retarded synthesis or accelerated degradation of serum cholinesterase remains to be determined.Keywords
This publication has 16 references indexed in Scilit:
- E1j, a quantitative variant at cholinesterase locus 1: immunological evidence.Journal of Medical Genetics, 1976
- Further variation of the “silent” cholinesterase geneBiochemical Medicine, 1973
- Identification of Serum Cholinesterase Fluoride Variants by Differential Inhibition in Tris and Phosphate BuffersClinical Chemistry, 1972
- Improved method for the differentiation of cholinesterase variants.1972
- Silent cholinesterase gene: variations in the properties of serum enzyme in apparent homozygotesJournal of Clinical Investigation, 1970
- The Pseudocholinesterase Variants. Differentiation by Means of Sodium ChlorideHuman Heredity, 1968
- Differential Inhibition of Human Serum Cholinesterase with n-Butyl Alcohol: Recognition of New PhenotypesHuman Heredity, 1968
- Increased plasma cholinesterase activity and succinylcholine resistance: a genetic variant.Journal of Clinical Investigation, 1966
- A NEW PSEUDOCHOLINESTERASE PHENOTYPE?Human Heredity, 1960
- ON DISTRIBUTION AND INHERITANCE OF ATYPICAL FORMS OF HUMAN SERUM CHOLINESTERASE, AS INDICATED BY DIBUCAINE NUMBERSCanadian Journal of Biochemistry and Physiology, 1957