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. 1978 Feb;15(1):27–29. doi: 10.1136/jmg.15.1.27

E1k, another quantitative variant at cholinesterase locus 1.

H M Rubinstein, A A Dietz, T Lubrano
PMCID: PMC1012819  PMID: 416211

Abstract

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

These references are in PubMed. This may not be the complete list of references from this article.

  1. Dietz A. A., Rubinstein H. M., 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] [Google Scholar]
  2. Garry P. J., Dietz A. A., Lubrano T., Ford P. C., James K., Rubinstein H. M. New allele at cholinesterase locus 1. J Med Genet. 1976 Feb;13(1):38–42. doi: 10.1136/jmg.13.1.38. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. LIDDELL J., LEHMANN H., SILK E. A 'silent' pseudo-cholinesterase gene. Nature. 1962 Feb 10;193:561–562. doi: 10.1038/193561a0. [DOI] [PubMed] [Google Scholar]
  4. Neitlich H. W. Increased plasma cholinesterase activity and succinylcholine resistance: a genetic variant. J Clin Invest. 1966 Mar;45(3):380–387. doi: 10.1172/JCI105353. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Rubinstein H. M., Dietz A. A., Hodges L. K., 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. doi: 10.1172/JCI106257. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Rubinstein H. M., Dietz A. A., Lubrano T., Garry P. J. E1j, a quantitative variant at cholinesterase locus 1: immunological evidence. J Med Genet. 1976 Feb;13(1):43–45. doi: 10.1136/jmg.13.1.43. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Yoshida A., Motulsky A. G. A pseudocholinesterase variant (E Cynthiana) associated with elevated plasma enzyme activity. Am J Hum Genet. 1969 Sep;21(5):486–498. [PMC free article] [PubMed] [Google Scholar]

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