Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population

Clinical Chemistry

Volumn 49, Issue 8, 2003, Pages 1297-1308

  Yen, Tina ^a   Nightingale, Brian N ^a   Burns, Jennifer C ^a   Sullivan, David R ^a   Stewart, Peter M ^a  

^a ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINESTERASE; CINCHOCAINE; DNA; SUXAMETHONIUM;

ADOLESCENT; ADULT; AGED; APNEA; ARTICLE; AUSTRALIA; CHILD; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPOCHOLINESTERASEMIA; INHERITANCE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; UNIVERSITY HOSPITAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANESTHETICS; APNEA; AUSTRALIA; BUTYRYLCHOLINESTERASE; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SUCCINYLCHOLINE;

EID: 0041866793     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/49.8.1297     Document Type: Article

References (22)

1. Bauld HW, Gibson PF, Jebson PJ, Brown SS. Aetiology of prolonged apnoea after suxamethonium. Br J Anaesth 1974;46:273-81.
2. Viby-Mogensen J, Hanel HK. Prolonged apnoea after suxamethonium: an analysis of the first 225 cases reported to the Danish Cholinesterase Research Unit. Acta Anaesthesiol Scand 1978;22:371-80.
3. Jensen FS, Viby-Mogensen J. Plasma cholinesterase and abnormal reaction to suxamethonium injection: twenty years' experience with the Danish Cholinesterase Registry. Ugeskr Laeger 1996;158:1835-9.
4. Morgan AA. Apnoea following suxamethonium: the genetic study of four generations of a family. J Med Genet 1982;19:22-5.
5. 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: Shafferman A, Velan B, eds. Multidisciplinary approaches to cholinesterase functions. New York: Plenum Press, 1992:61-4.
6. McGuire MC, Nogueria CP, Bartels CF, Lightstone H, Rajra A, Van der Spek AFL, et al. Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase. Proc Natl Acad Sci U S A 1989;86:953-7.
7. Nogueria CP, Bartels CF, McGuire MC, Adkins S, Lubrano T, Rubinstein HM, et al. Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase. Am J Hum Genet 1992;51:821-8.
8. Sudo K, Maekawa M, Akizuki S, Magara T, Ogasawara H, Tanaka T. Human butyrylcholinesterase L3301 mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells. Biochem Biophys Res Commun 1997;240:372-5.
9. Primo-Parmo SL, Bartels CF, Wiersema B, Van der Spek AFL, Innis JW, La Du BN. Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene. Am J Hum Genet 1996;58:52-64.
10. Knedel M, Bottger R. [A kinetic method for determination of the activity of pseudocholinesterase (acylcholine acyl-hydrolase 3.1.1.8.)]. Klin Wochenschr 1967;45:325-7.
11. La Du BN, Bartels CF, Nogueria CP, Hajra A, Lightstone H, Van der Spek AFL, et al. Phenotypic and molecular biological analysis of human serum butyrylcholinesterase variants. Clin Biochem 1990;23:423-31.
12. Athanassiadou A, Papachatzopoulou A, Gibbs RA. Detection and genetic analysis of α-thalassemia mutations by competitive oligopriming. Hum Mutat 1995;6:30-5.
13. Gibbs RA, Nguyen PN, Caskey CT. Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res 1989;17:2437-48.
14. Orou A, Fechner B, Utermann G, Menzel H-J. Allele-specific competitive blocker PCR: a one-step method with applicability to pool screening. Hum Mutat 1995;6:163-9.
15. Rosenthal A, Coutelle O, Craxton M. Large-scale production of DNA sequencing templates by microtitre format PCR. Nucleic Acids Res 1993;21:173-4.
16. Tu O, Knott T, Marsh M, Bechtol K, Harris D, Barker D, et al. The influence of fluorescent dye structure on the electrophoretic mobility of end-labeled DNA. Nucleic Acids Res 1998;26:2797-802.
17. Whittaker M. Plasma cholinesterase abnormalities: laboratory investigatios. In: Ellis FR, ed. Inherited disease and anaesthesia. Amsterdam: Elsevier North Holland Biomedical Press, 1981:105-25.
18. Primo-Parmo SL, Lightstone H, La Du BN. Characterization of an Unstable variant (BChE115D) of human butyrylcholinesterase. Pharmacogenetics 1997;7:27-34.
19. Blong RM, Bedows E, Lockridge O. Tetramerization domain of human butyrylcholinesterase is at the C-terminus. Biochem J 1997;327:747-57.
20. Simeon-Rudolf V, Kovarik Z, Skrinjaric-Spoljar M, Evans RT. An explanation for the different inhibitory characteristics of human serum butyrylcholinesterase phenotypes deriving from inhibition of atypical heterozygotes. Chem Biol Interact 1999:119-20,159-64.
21. Bartels CF, Jensen FS, Lockridge O, Van der Spek AFL, Rubinstein HM, Lubrano T, et al. 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.
22. Dey DC, Maekawa M, Sudo K, Kanno T. Butyrylcholinesterase genes in individuals with abnormal inhibition numbers and with trace activity: one common mutation and two novel silent genes. Ann Clin Biochem 1998;35:302-10.