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J Med Genet. 1978 February; 15(1): 27–29.
PMCID: PMC1012819

E1k, another quantitative variant at cholinesterase locus 1.


Two families segregating for the atypical (E1a) allele at cholinesterase locus 1 are described. Unusual results for dibucaine inhibition led to the recognition of a new allele (E1k) also segregating in these families. The enzymatic and immunological data are consistent with the hypothesis that E1k causes reduction of 'usual' (E1u) molecules by about 33%. Whether the reduction of E1u caused by E1k is caused by retarded synthesis or accelerated degradation of serum cholinesterase remains to be determined.

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Selected References

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  • Dietz AA, Rubinstein HM, Lubrano T. Colorimetric determination of serum cholinesterase and its genetic variants by the propionylthiocholine-dithiobis(nitrobenzoic acid)procedure. Clin Chem. 1973 Nov;19(11):1309–1313. [PubMed]
  • Garry PJ, Dietz AA, Lubrano T, Ford PC, James K, Rubinstein HM. New allele at cholinesterase locus 1. J Med Genet. 1976 Feb;13(1):38–42. [PMC free article] [PubMed]
  • LIDDELL J, LEHMANN H, SILK E. A 'silent' pseudo-cholinesterase gene. Nature. 1962 Feb 10;193:561–562. [PubMed]
  • Neitlich HW. Increased plasma cholinesterase activity and succinylcholine resistance: a genetic variant. J Clin Invest. 1966 Mar;45(3):380–387. [PMC free article] [PubMed]
  • Rubinstein HM, Dietz AA, Hodges LK, Lubrano T, Czebotar V. Silent cholinesterase gene: variations in the properties of serum enzyme in apparent homozygotes. J Clin Invest. 1970 Mar;49(3):479–486. [PMC free article] [PubMed]
  • Rubinstein HM, Dietz AA, Lubrano T, Garry PJ. E1j, a quantitative variant at cholinesterase locus 1: immunological evidence. J Med Genet. 1976 Feb;13(1):43–45. [PMC free article] [PubMed]
  • Yoshida A, Motulsky AG. A pseudocholinesterase variant (E Cynthiana) associated with elevated plasma enzyme activity. Am J Hum Genet. 1969 Sep;21(5):486–498. [PubMed]

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