Cholinesterase: Phenotyping and genotyping

Annals of Clinical Biochemistry

Volumn 41, Issue 2, 2004, Pages 98-110

  Goodall, Roberta ^a  

^a SOUTHMEAD HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BUTANOL; CHOLINESTERASE; MUSCLE RELAXANT AGENT; PROPRANOLOL; SUXAMETHONIUM;

APNEA; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME INHIBITION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYDROLYSIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ACETYLCHOLINESTERASE; AMINO ACID SUBSTITUTION; APNEA; BUTYRYLCHOLINESTERASE; CHOLINESTERASE INHIBITORS; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; PHENOTYPE; REAGENT KITS, DIAGNOSTIC; RESEARCH DESIGN; SEQUENCE HOMOLOGY, NUCLEIC ACID; SUBSTRATE SPECIFICITY; SUCCINYLCHOLINE; VARIATION (GENETICS);

EID: 1942437983     PISSN: 00045632     EISSN: None     Source Type: Journal    
DOI: 10.1258/000456304322879971     Document Type: Review

References (66)

1. Brimijoin S, Hammond P. Butyrylcholinesterase in human brain and acetylcholinesterase in human plasma: trace enzymes measured by two-site immunoassay. J Neurochem 1988; 51: 1227-31
2. Lockridge O, Adkins S, La Du BN. Location of disulphide bonds within the sequence of human serum cholinesterase. J Biol Chem 1987; 272: 12945-52
3. Bergmann F, Wurzel M. The structure of the active surface of serum cholinesterase. Biochim Biophys Acta 1954; 13: 251-9
4. Bames JM, Davies DR. Blood cholinesterase levels in workers exposed to organo-phosphorus insecticides. BMJ 1951; 2: 816-9
5. Lockridge O, Mottershaw-Jackson N, Eckerson HW, La Du BN. Hydrolysis of diacetylmorphine (heroin) by human serum cholinesterase. J Pharmacol Exp Ther 1980; 215: 1-8
6. Lockridge O. Genetic variants of human serum cholinesterase influence metabolism of the muscle relaxant succinylcholine. Pharmacol Ther 1990; 47: 35-60
7. Evans FT, Gray P, Willson JA, Bochi AA. Sensitivity to succinylcholine in relation to serum cholinesterase. Lancet 1952; 1: 1229-30
8. 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; 35: 1305-17
9. Kalow W, Gunn DR. The relationship between dose of succinylcholine and duration of apnoea in man. J Pharmacol Exp Ther 1957; 120: 203-14
10. Kalow W, Genest K. A method for the detection of atypical forms of human serum cholinesterase. Determination of dibucaine numbers. Can J Biochem Physiol 1957; 35: 339-46
11. Harris H, Whittaker M. Differential inhibition of human serum cholinesterase with fluoride: recognition of two new phenotypes. Nature 1961; 191: 496-8
12. Harris H, Hopkinson DA, Robson RB. Two-dimensional electrophoresis of pseudocholinesterase components in normal human serum. Nature 1962; 196: 1296-8
13. Motulski AG. Pharmacogenetics. In: Steinberg AG, Beam AG, eds. Progress in Medical Genetics, Vol III. New York: Grune and Stratton, 1964: 49-74
14. Lanks KW, Sklar GS. Stability of pseudocholinesterase in stored blood. Anesthesiology 1976; 44: 428-30
15. Huizenga JR, van der Belt K, Gips CH. The effect of storage at different temperatures on cholinesterase activity at different temperatures. J Clin Chem Clin Biochem 1985; 23: 283-5
16. Stedman E, Stedman E, Easson LH. Cholinesterase. An enzyme present in the blood serum of the horse. Biochem J 1932; 26: 2056-66
17. Ammon R. Die fermentative Spaltung des Acetylcholins. Pflügers Arch Gesamte Physiol 1933; 233: 486-91
18. McArdle B. The serum choline esterase in jaundice and diseases of the liver. Q J Med 1940; 9: 107-19
19. King J. Practical Enzymology. London: Van Nostrand, 1965
20. Evans RT. Cholinesterase phenotyping: clinical aspects and laboratory applications. Crit Rev Clin Lab Sci 1986; 23: 35-64
21. Whittaker M. Cholinesterase. Monographs in Human Genetics, Vol 11. Basel: Karger, 1986
22. Reinhold JG, Tourigny LG, Yonan VL. Measurement of cholinesterase activity by photometric indicator method. Together with study of influence of sex and race. Am J Clin Pathol 1953; 23: 645-53
23. Molander DW, Friedman MM, La Due JS. Serum cholinesterase in hepatic and neoplastic diseases: a preliminary report. Ann Intern Med 1954; 41: 1139-51
24. Davies DR, Nicholls JD. Field test for assay of human blood cholinesterase. BMJ 1955; 1: 1373-5
25. Brock A, Mortensen V, Rasmussen Loft AG, Norgaard-Pedersen B. Enzyme immunoassay of human cholinesterase (EC 3.1.1.8). Comparison of immunoreactive substance concentration with catalytic activity concentration in randomly selected serum samples from healthy individuals. J Clin Chem Clin Biochem 1990; 28: 221-4
26. Whittaker M, Jones JW, Braven J. Immunological studies of families. Segregating the silent gene for plasma cholinesterase. Hum Hered 1991; 41: 77-83
27. Kalow W, Lindsay HA. A comparison of optical and manometric methods for the assay of human serum cholinesterase. Can J Biochem 1955; 33: 568-74
28. Ellman GL, Courtney KD, Andres V, Featherstone RM. A new and rapid colorimetric determination of acetylcholinesterase activity. Biochem Pharmacol 1961; 7: 88-95
29. Garry PJ, Routh JI. A micromethod for serum cholinesterase. Clin Chem 1965; 11: 1191-6
30. Silk E, King J, Whittaker M. Assay of cholinesterase in clinical chemistry. Ann Clin Biochem 1979; 16: 57-75
31. 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; 19: 1309-13
32. Evans RT, Wroe J. Is serum cholinesterase activity a predictor of succinyl choline sensitivity? An assessment of four methods. Clin Chem 1978; 24: 1762-6
33. Schmidt E, Gerhardt W, Henkel E, Klauke R, Liese W, Lorentz K, et al. Proposal of standard methods for the determination of enzyme catalytic concentrations in serum and plasma at 37°C. II. Cholinesterase (acylcholine acylhydrolase, EC 3.1.1.8). Eur J Clin Chem Clin Biochem 1992; 30: 163-70
34. Whittaker M. Estimation of plasma activity and the use of inhibitors for the determination of phenotypes. Association of Clinical Pathologists Broadsheet 87, 1977
35. Association of Clinical Biochemists Working Party on Enzyme Methods for the Scientific and Technical Committee. Proposed methods for determination of some enzymes in blood serum. Association of Clinical Biochemists News Sheet 1980; Suppl 202: 31s-36s
36. Abernathy MH, George PM, Melton VE. A new succinylcholine-based assay of plasma cholinesterase. Clin Chem 1984; 30: 192-5
37. Greenberg CP, Primo-Parmo SL, Pantuck EJ, La Du BN. Prolonged response to succinylcholine: a new variant of plasma cholinesterase that is identified as normal by traditional phenotyping methods. Anesth Analg 1995; 81: 419-21
38. Bradamante V, Kunec-Vajic E, Lisic M, Dobric I, Beus I. Plasma cholinesterase activity in patients during therapy with dexamethasone or prednisone. Eur J Clin Pharmacol 1989; 36: 253-7
39. Young DS. Effects of Drugs on Clinical Laboratory Tests, 5th edn. Washington: AACC Press, 2000
40. Liddel J, Newman GE, Brown DF. A pseudo-cholinesterase variant in human tissues. Nature 1963; 198: 1090-1
41. Whittaker M. The serum cholinesterase variants. Differentiation by means of sodium chloride. Acta Genet Stat Med 1968; 18: 556-62
42. King J, Griffin D. Differentiation of serum cholinesterase variants and inhibitor numbers. Br J Anaesth 1973; 45: 450-5
43. Whittaker M, Britten JJ, Wicks RJ. Inhibition of the plasma cholinesterase variants by propanolol. Br J Anaesth 1981; 53: 511-6
44. Whittaker M. Differential inhibition of serum cholinesterase with n-butyl alcohol: recognition of new phenotypes. Acta Genet Stat Med 1968; 18: 335-40
45. King J, McQueen MJ, Morgan HG. The effect of temperature on fluoride-resistant serum cholinesterase. Br J Anaesth 1971; 43: 669-72
46. McQueen MJ. Inhibition inversion in the AACC selected method for serum cholinesterase. Clin Chem 1979; 25: 1511-2
47. Bartels CF, Jensen FS, Lockridge O, van der Speck AFL, Rubenstein HM, Lubrano T. DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites. Am J Hum Genet 1992; 50: 1086-103
48. Arpargus M, Kott M, Vatsis KP, Bartels CF, La Du BN, Lockridge O. Structure of the gene for human butyrylcholinesterase: evidence for a single copy. Biochemistry 1990; 29: 124-31
49. Allerdice PW, Gardner HAR, Galutira D, Lockridge O, La Du BN, McAlpine PJ. The cloned butyrylcholinesterase gene (BCHE) maps to a single chromosome site, 3q26. Genomics 1991; 11: 452-4
50. McGuire MC, Nogueira CP, Bartels CF, Lightstone H, Hajra A, Van der Spek. Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase. Proc Natl Acad Sci USA 1989; 86: 953-7
51. Nogueira CP, McGuire MC, Graeser C, Bartels CF, Arpargaus M, Van der Speck AFL. Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT→GGAG). Am J Hum Genet 1990; 46: 934-42
52. Primo-Parmo SL, Bartels CF, Lightstone H, Van der Spek AFL, La Du BN. Heterogeneity of the silent phenotype of human butyrylcholinesterase: identification of eight new mutations. In: Shaeferman A, Velan B, eds. Multidisciplinary Approaches to Cholinesterase Functions. New York: Plenum, 1992: 61-4
53. Primo-Parmo SL, Bartels CF, Wiersema B, Van der Spek AFL, Innis JW, La Du BN. Characterisation of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene. Am J Hum Genet 1996; 58: 52-64
54. Bartels CF, James K, La Du BN. DNA mutations associated with the human butyrylcholinesterase J-variant. Am J Hum Genet 1992; 50: 1104-14
55. Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001; 17: 439-74
56. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487-91
57. Hidaka K, Watanabe Y, Tomita M, Ueda N, Higashi M, Minatogawa Y. Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping. Clin Chim Acta 2001; 303: 61-7
58. Kunkel LM, Smith KD, Boyer SH, Norgaonkar DS, Hochtel OJ, Miller OJ. Analysis of Y-chromosome specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977; 74: 1245-9
59. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874-9
60. Nogueira CP, Bartels C, McGuire MC, Adkins S, Lubrano T, Rubenstein HM. Identification of two different point mutations associated with fluoride-resistant phenotype for human butyrylcholinesterase. Am J Hum Genet 1992; 5: 821-8
61. k allele frequency and its significance in the normal population. J Med Genet 1994; 13: 248-50
62. Shibuta K, Abe M, Suzuki T. A new detection method for the K variant of butyrylcholinesterase based on PCR primer introduced restriction analysis. J Med Genet 1994; 31: 576-9
63. Bidwell JL, Clay TM, Wood NAP, Pursall MP, Martin AF, Bradley BA. Rapid HLA-DR-Dw and DP matching by PCR fingerprinting and related DNA heteroduplex technologies. In: Hui KM, Bidwell JL, eds. Handbook of HLA Typing Techniques. Florida: CRC Press, 1993: 99-116
64. Goodall R, Hill H, Bidwell J, Wood N, Tyfield LA, Goldie DJ. Identification of mutations in exons 2 and 4 of the butyrylcholinesterase gene (BCHE) using induced heteroduplex formation. Clin Chem 1999; 45 (Suppl 6): A40
65. Evans RT, Walker A, Bowness KM. Improved accuracy of cholinesterase phenotyping after participation in a proficiency survey. Clin Chem 1987; 33: 823-5
66. Neumaier M, Braun A, Wagener C. Fundamentals of quality assessment of molecular amplification methods in clinical diagnostics. International Federation of Clinical Chemistry Scientific Division Committee on Molecular Biology Techniques. Clin Chem 1998; 44: 12-26