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E1j, a quantitative variant at cholinesterase locus 1: immunological evidence
Journal of Medical Genetics
|February 1, 1976
Summary
New serum cholinesterase phenotypes (E1aE1j, E1uE1j, E1fE1J) were identified. Sera with the E1j allele show fewer active cholinesterase molecules, supporting the hypothesis of reduced usual cholinesterase levels.
Area of Science:
- Biochemistry
- Human Genetics
- Enzymology
Background:
- Serum cholinesterase (SCHE) exhibits genetic polymorphism at locus 1.
- Several phenotypes exist, with E1u representing the usual form.
- New phenotypes, including those with the E1j allele, have been identified.
Purpose of the Study:
- To investigate the immunological activity of cholinesterase molecules in sera with newly recognized phenotypes.
- To test the hypothesis that the E1j allele leads to reduced levels of usual cholinesterase molecules.
Main Methods:
- Immunodiffusion techniques were employed.
- Rocket immunoelectrophoresis was utilized to quantify cholinesterase activity.
Main Results:
- Sera containing the E1j allele demonstrated a reduced quantity of immunologically active cholinesterase.
- This observation aligns with the proposed mechanism of E1j affecting the levels of usual (E1u) cholinesterase.
Conclusions:
- The E1j allele is associated with a decrease in circulating cholinesterase molecules.
- Further research is needed to determine if this reduction is due to decreased synthesis or increased degradation of cholinesterase.