Skip to main content
The Journal of Clinical Investigation logoLink to The Journal of Clinical Investigation
. 1970 Mar;49(3):479–486. doi: 10.1172/JCI106257

Silent cholinesterase gene: variations in the properties of serum enzyme in apparent homozygotes

H M Rubinstein 1,2,3,4, A A Dietz 1,2,3,4, L K Hodges 1,2,3,4, T Lubrano 1,2,3,4, V Czebotar 1,2,3,4
PMCID: PMC322495  PMID: 4984470

Abstract

The cholinesterase activity of the sera of 25 subjects diagnosed as homozygotes for the silent cholinesterase gene was studied by a sensitive enzymatic method employing several thiocholine esters and various inhibitors, and by disc electrophoretic, immunochemical, and chromatographic methods.

(a) With one exception, the sera fell into two classes by all criteria. One class (type I, 16 cases) had no normal serum cholinesterase. The other class (type II, eight cases) had about 2% of apparently normal serum cholinesterase. The remaining serum was intermediate between the two classes in several respects. One explanation for these results is that there are several “silent” genes concerned; possibly these are allelic.

(b) Normal sera and all silent sera contain small amounts of a cholinesterase activity labeled the residual cholinesterase. The enzyme(s) responsible has properties similar to those of acetylcholinesterase rather than serum cholinesterase. It is estimated that about 1% of the activity of normal serum against acetylthiocholine is due to this enzyme. The source of the residual cholinesterase is not yet known.

Full text

PDF
482

Images in this article

Selected References

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

  1. BERNSOHN J., BARRON K. D., HESS A. Cholinesterases in serum as demonstrated by starch gel electrophoresis. Proc Soc Exp Biol Med. 1961 Oct;108:71–73. doi: 10.3181/00379727-108-26848. [DOI] [PubMed] [Google Scholar]
  2. DAVIS B. J. DISC ELECTROPHORESIS. II. METHOD AND APPLICATION TO HUMAN SERUM PROTEINS. Ann N Y Acad Sci. 1964 Dec 28;121:404–427. doi: 10.1111/j.1749-6632.1964.tb14213.x. [DOI] [PubMed] [Google Scholar]
  3. Dietz A. A., Lubrano T., Rubinstein H. M. Four families segregating for the silent gene for serum cholinesterase. Acta Genet Stat Med. 1965;15(3):208–217. doi: 10.1159/000151912. [DOI] [PubMed] [Google Scholar]
  4. ELLMAN G. L. A colorimetric method for determining low concentrations of mercaptans. Arch Biochem Biophys. 1958 Apr;74(2):443–450. doi: 10.1016/0003-9861(58)90014-6. [DOI] [PubMed] [Google Scholar]
  5. GARRY P. J., ROUTH J. I. A MICRO METHOD FOR SERUM CHOLINESTERASE. Clin Chem. 1965 Feb;11:91–96. [PubMed] [Google Scholar]
  6. Goedde H. W., Altland K. Evidence for different "silent genes" in the human serum pseudocholinesterase polymorphism. Ann N Y Acad Sci. 1968 Jun 14;151(1):540–544. doi: 10.1111/j.1749-6632.1968.tb11913.x. [DOI] [PubMed] [Google Scholar]
  7. Goedde H. W., Fuss W., Ritter W. F., Baitsch H. Uber die Verwendung des Pseudocholinesterase-Polymorphismus im Paternitätsgutachten. Humangenetik. 1965;1(4):311–318. doi: 10.1007/BF00273972. [DOI] [PubMed] [Google Scholar]
  8. Goedde H. W., Gehring D., Hofmann R. A. On the problem of a "silent gene" in pseudocholinesterase polymorphism. Biochim Biophys Acta. 1965 Sep 13;107(2):391–393. doi: 10.1016/0304-4165(65)90149-2. [DOI] [PubMed] [Google Scholar]
  9. Gutsche B. B., Scott E. M., Wright R. C. Hereditary deficiency of pseudocholinesterase in Eskimos. Nature. 1967 Jul 15;215(5098):322–323. doi: 10.1038/215322b0. [DOI] [PubMed] [Google Scholar]
  10. HARRIS H., HOPKINSON D. A., ROBSON E. B. Two-dimensional electrophoresis of pseudocholinesterase components in normal human serum. Nature. 1962 Dec 29;196:1296–1298. doi: 10.1038/1961296a0. [DOI] [PubMed] [Google Scholar]
  11. HARRIS H., ROBSON E. B., GLEN-BOTT A. M., THORNTON J. A. EVIDENCE FOR NON-ALLELISM BETWEEN GENES AFFECTING HUMAN SERUM CHOLINESTERASE. Nature. 1963 Dec 21;200:1185–1187. doi: 10.1038/2001185a0. [DOI] [PubMed] [Google Scholar]
  12. HODGKIN W., GIBLETT E. R., LEVINE H., BAUER W., MOTULSKY A. G. COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION. J Clin Invest. 1965 Mar;44:486–493. doi: 10.1172/JCI105162. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Heyworth R., Firth H. M. Silent gene for serum-cholinesterase. Lancet. 1967 Dec 30;2(7531):1422–1422. doi: 10.1016/s0140-6736(67)93056-5. [DOI] [PubMed] [Google Scholar]
  14. Jenkins T., Balinsky D., Patient D. W. Cholinesterase in plasma: first reported absence in the Bantu; half-life determination. Science. 1967 Jun 30;156(3783):1748–1750. doi: 10.1126/science.156.3783.1748. [DOI] [PubMed] [Google Scholar]
  15. Juul P. Human plasma cholinesterase isoenzymes. Clin Chim Acta. 1968 Feb;19(2):205–213. doi: 10.1016/0009-8981(68)90327-6. [DOI] [PubMed] [Google Scholar]
  16. KALOW W., STARON N. On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers. Can J Biochem Physiol. 1957 Dec;35(12):1305–1320. [PubMed] [Google Scholar]
  17. Kattamis C., Davies D., Lehmann H. The silent serum cholinesterase gene. Acta Genet Stat Med. 1967;17(4):299–303. doi: 10.1159/000152076. [DOI] [PubMed] [Google Scholar]
  18. LAMOTTA R. V., MCCOMB R. B., WETSTONE H. J. ISOZYMES OF SERUM CHOLINESTERASE: A NEW POLYMERIZATION SEQUENCE. Can J Physiol Pharmacol. 1965 Mar;43:313–318. doi: 10.1139/y65-030. [DOI] [PubMed] [Google Scholar]
  19. 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]
  20. Lamotta R. V., McComb R. B., Noll C. R., Jr, Wetstone H. J., Reinfrank R. F. Multiple forms of serum cholinesterase. Arch Biochem Biophys. 1968 Mar 20;124(1):299–305. doi: 10.1016/0003-9861(68)90331-7. [DOI] [PubMed] [Google Scholar]
  21. RUBINSTEIN H. M., DIETZ A. A. Human serum cholinesterase. II. A comparison of the hydrolysis rates of acetylcholine and benzoylcholine by normal and abnormal sera. J Lab Clin Med. 1963 Jun;61:979–986. [PubMed] [Google Scholar]
  22. Szeinberg A., Pipano S., Ostfeld E., Eviatar L. The silent gene for serum pseudocholinesterase. J Med Genet. 1966 Sep;3(3):190–193. doi: 10.1136/jmg.3.3.190. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Clinical Investigation are provided here courtesy of American Society for Clinical Investigation

RESOURCES