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J Clin Invest. 1970 March; 49(3): 479–486.
PMCID: PMC322495

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

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • LIDDELL J, LEHMANN H, SILK E. A 'silent' pseudo-cholinesterase gene. Nature. 1962 Feb 10;193:561–562. [PubMed]
  • HODGKIN W, GIBLETT ER, LEVINE H, BAUER W, MOTULSKY AG. COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION. J Clin Invest. 1965 Mar;44:486–493. [PMC free article] [PubMed]
  • Dietz AA, Lubrano T, Rubinstein HM. Four families segregating for the silent gene for serum cholinesterase. Acta Genet Stat Med. 1965;15(3):208–217. [PubMed]
  • Goedde HW, Fuss W, Ritter WF, Baitsch H. Uber die Verwendung des Pseudocholinesterase-Polymorphismus im Paternitätsgutachten. Humangenetik. 1965;1(4):311–318. [PubMed]
  • Szeinberg A, Pipano S, Ostfeld E, Eviatar L. The silent gene for serum pseudocholinesterase. J Med Genet. 1966 Sep;3(3):190–193. [PMC free article] [PubMed]
  • Kattamis C, Davies D, Lehmann H. The silent serum cholinesterase gene. Acta Genet Stat Med. 1967;17(4):299–303. [PubMed]
  • Heyworth R, Firth HM. Silent gene for serum-cholinesterase. Lancet. 1967 Dec 30;2(7531):1422–1422. [PubMed]
  • Gutsche BB, Scott EM, Wright RC. Hereditary deficiency of pseudocholinesterase in Eskimos. Nature. 1967 Jul 15;215(5098):322–323. [PubMed]
  • Jenkins T, Balinsky D, Patient DW. Cholinesterase in plasma: first reported absence in the Bantu; half-life determination. Science. 1967 Jun 30;156(3783):1748–1750. [PubMed]
  • Goedde HW, Gehring D, Hofmann RA. On the problem of a "silent gene" in pseudocholinesterase polymorphism. Biochim Biophys Acta. 1965 Sep 13;107(2):391–393. [PubMed]
  • Goedde HW, 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. [PubMed]
  • 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]
  • RUBINSTEIN HM, DIETZ AA. 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]
  • ELLMAN GL. A colorimetric method for determining low concentrations of mercaptans. Arch Biochem Biophys. 1958 Apr;74(2):443–450. [PubMed]
  • GARRY PJ, ROUTH JI. A MICRO METHOD FOR SERUM CHOLINESTERASE. Clin Chem. 1965 Feb;11:91–96. [PubMed]
  • DAVIS BJ. DISC ELECTROPHORESIS. II. METHOD AND APPLICATION TO HUMAN SERUM PROTEINS. Ann N Y Acad Sci. 1964 Dec 28;121:404–427. [PubMed]
  • BERNSOHN J, BARRON KD, HESS A. Cholinesterases in serum as demonstrated by starch gel electrophoresis. Proc Soc Exp Biol Med. 1961 Oct;108:71–73. [PubMed]
  • Lamotta RV, McComb RB, Noll CR, Jr, Wetstone HJ, Reinfrank RF. Multiple forms of serum cholinesterase. Arch Biochem Biophys. 1968 Mar 20;124(1):299–305. [PubMed]
  • Juul P. Human plasma cholinesterase isoenzymes. Clin Chim Acta. 1968 Feb;19(2):205–213. [PubMed]
  • HARRIS H, HOPKINSON DA, ROBSON EB. Two-dimensional electrophoresis of pseudocholinesterase components in normal human serum. Nature. 1962 Dec 29;196:1296–1298. [PubMed]
  • LAMOTTA RV, MCCOMB RB, WETSTONE HJ. ISOZYMES OF SERUM CHOLINESTERASE: A NEW POLYMERIZATION SEQUENCE. Can J Physiol Pharmacol. 1965 Mar;43:313–318. [PubMed]
  • HARRIS H, ROBSON EB, GLEN-BOTT AM, THORNTON JA. EVIDENCE FOR NON-ALLELISM BETWEEN GENES AFFECTING HUMAN SERUM CHOLINESTERASE. Nature. 1963 Dec 21;200:1185–1187. [PubMed]

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