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Xenobiotic_sensitivity Report for: Defect in Suxamethonium hydrolysis

Alternative name(s)|Pseudocholinesterase deficiency
Butyrylcholinesterase deficiency
Postanesthetic apnea
Suxamethonium sensitivity
Succinyldicholine sensitivity
Mutation|83 mutations (e.g. : 3q26.1del_human-BCHE, A184V_human-BCHE, A199V_human-BCHE... more)
OMIM: |177400, 617936

(from OMIM) Mutant alleles at the CHE1 locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. The dibucaine number (percentage inhibition by dibucaine) identifies 3 genotypes (Kalow and Genest, 1957). Two further alleles are a silent gene and an allele identified by fluoride inhibition. Heterogeneity of the 'silent' cholinesterase genes was indicated by the studies of Rubinstein et al. (1970). There is phenotypic diversity in suxamethonium sensitivity resulting from an allelic series. Some of the subjects with sensitive genotypes have apnea lasting 2 or 3 hours, whereas the apnea in other sensitive genotypes is considerably shorter (Lehmann and Liddell, 1972). Motulsky and Morrow (1968), using a rapid screening test, demonstrated a low frequency of heterozygotes among Congolese Africans, Japanese, Taiwanese, Filipinos and Eskimos. U.S. Caucasians, Greeks, Yugoslavs and East Indians had a relatively high frequency (2.8 to 3.3%). Deficiency of pseudocholinesterase is unusually frequent among Alaskan Eskimos (Gutsche et al., 1967). In an Eskimo population with a gene frequency for serum cholinesterase deficiency exceeding 10%, Scott et al. (1970) determined normal enzyme levels at various ages and the degree of overlap of heterozygous and homozygous classes. Curiously, 3 presumably allelic forms of serum cholinesterase deficiency have been found in 1 small Eskimo population (Scott and Wright, 1976). Other variants for which mutation is still uncharacterised include: Newfoundland variant (Simpson and Elliott 1981). The enzyme showed reduced activity.Cynthiana variant associated with increased enzyme activity (Yoshida and Motulsky, 1969). Whether it is determined by the E(1) or E(2) locus is not known (Motulsky, 1978). A second example of high activity cholinesterase, apparently identical to BCHE Cynthiana, was reported by Delbruck and Henkel (1979). Variant Johannesburg, (Krause et al. 1988) BCHE is different from BCHE Cynthiana since increased activities of the latter variant appeared to result from the presence of increased amounts of enzyme protein.

    Title: Plasma butyrylcholinesterase activity: a possible biomarker for differential diagnosis between Alzheimer's disease and dementia with Lewy bodies?
    Josviak ND, Batistela MS, Souza RKM, Wegner NR, Bono GF, Sulzbach CD, Simao-Silva DP, Piovezan MR, Souza RLR, Furtado-Alle L
    Ref: International Journal of Neuroscience, :1, 2017 : PubMed


    Title: Effect of BCHE single nucleotide polymorphisms on lipid metabolism markers in women
    Oliveira J, Tureck LV, Santos WD, Saliba LF, Schenknecht CS, Scaraboto D, Souza RLR, Furtado-Alle L
    Ref: Genet Mol Biol, :0, 2017 : PubMed


    Title: Association between butyrylcholinesterase K variant and mild cognitive impairment in the Thai community-dwelling patients
    Pongthanaracht N, Yanarojana S, Pinthong D, Unchern S, Thithapandha A, Assantachai P, Supavilai P
    Ref: Clin Interv Aging, 12:897, 2017 : PubMed


    Title: Butyrylcholinesterase Atypical Mutation in a Patient Undergoing Electroconvulsive Therapy
    Bulteau S, Etcheverrigaray F, Grall-Bronnec M, Loutrel O, Lejus C, Vanelle JM, Victorri-Vigneau C, Sauvaget A
    Ref: J Ect, 32:e4, 2016 : PubMed


    Title: Understanding the non-catalytic behavior of human butyrylcholinesterase silent variants: comparison of wild-type enzyme, catalytically active Ala328Cys mutant, and silent Ala328Asp variant
    Lushchekina SV, Nemukhin AV, Varfolomeev SD, Masson P
    Ref: Chemico-Biological Interactions, 259:223, 2016 : PubMed


    Title: [Prolonged neuromuscular block in a patient with butyrylcholinesterase deficiency]
    Mabboux I, Hary B, Courcelle S, Ceppa F, Delacour H
    Ref: Arch Pediatr, 23:497, 2016 : PubMed


    Title: Patients with prolonged effect of succinylcholine or mivacurium had novel mutations in the butyrylcholinesterase gene
    Wichmann S, Faerk G, Bundgaard JR, Gatke MR
    Ref: Pharmacogenet Genomics, 26:351, 2016 : PubMed


    Title: The allele frequency of T920C mutation in butyrylcholinesterase gene is high in an Indian population
    David SM, Soundararajan L, Boopathy R
    Ref: Gene, 555:409, 2015 : PubMed


    Title: Predictors of the variability in neuromuscular block duration following succinylcholine: A prospective, observational study
    Dell-Kuster S, Levano S, Burkhart CS, Lelais F, Zemp A, Schobinger E, Hampl K, Kindler C, Girard T
    Ref: European Journal of Anaesthesiology, :, 2015 : PubMed


    Title: Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), silent with mivacurium
    Delacour H, Lushchekina SV, Mabboux I, Ceppa F, Masson P, Schopfer LM, Lockridge O
    Ref: Biochemical Pharmacology, 92:476, 2014 : PubMed


    Title: Characterization of a Novel BCHE Silent Allele: Point Mutation (p.Val204Asp) Causes Loss of Activity and Prolonged Apnea with Suxamethonium
    Delacour H, Lushchekina SV, Mabboux I, Bousquet A, Ceppa F, Schopfer LM, Lockridge O, Masson P
    Ref: PLoS ONE, 9:e101552, 2014 : PubMed


    Title: Rapid detection of BCHE atypical variant (p.Asp70Gly) by high resolution melting curve analysis
    Mabboux I, Dos Santos M, Courcelle S, Hary B, Ceppa F, Delacour H
    Ref: Ann Biol Clin (Paris), 72:543, 2014 : PubMed


    Title: -116A and K BCHE gene variants associated with obesity and hypertriglyceridemia in adolescents from Southern Brazil
    Chaves TJ, Leite N, Milano GE, Souza RL, Chautard-Freire-Maia EA, Furtado-Alle L
    Ref: Chemico-Biological Interactions, 203:341, 2013 : PubMed


    Title: 1914G variant of BCHE gene associated with enzyme activity, obesity and triglyceride levels
    Lima JK, Leite N, Turek LV, Souza RL, da Silva Timossi L, Osiecki AC, Osiecki R, Furtado-Alle L
    Ref: Gene, 532:24, 2013 : PubMed


    Title: Association analysis between K and -116A variants of butyrylcholinesterase and Alzheimer's disease in a Brazilian population
    Simao-Silva DP, Bertolucci PH, de Labio RW, Payao SL, Furtado-Alle L, Souza RL
    Ref: Chemico-Biological Interactions, 203:358, 2013 : PubMed


    Title: Probing the peripheral site of human butyrylcholinesterase
    Macdonald IR, Martin E, Rosenberry TL, Darvesh S
    Ref: Biochemistry, 51:7046, 2012 : PubMed


    Title: Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine
    Garcia DF, Oliveira TG, Molfetta GA, Garcia LV, Ferreira CA, Marques AA, Silva WA, Jr.
    Ref: Genet Mol Biol, 34:40, 2011 : PubMed


    Title: Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree
    Lesch KP, Selch S, Renner TJ, Jacob C, Nguyen TT, Hahn T, Romanos M, Walitza S, Shoichet S and Ullmann R <15 more author(s)>
    Ref: Mol Psychiatry, 16:491, 2011 : PubMed


    Title: Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy
    Mollerup HM, Gatke MR
    Ref: Acta Anaesthesiologica Scandinavica, 55:82, 2011 : PubMed


    Title: Variation of the butyrylcholinesterase (BChE) and acetylcholinesterase (AChE) genes in coronary artery disease
    Scacchi R, Ruggeri M, Corbo RM
    Ref: Clinica Chimica Acta, 412:1341, 2011 : PubMed


    Title: BuChE K variant is decreased in Alzheimer's disease not in fronto-temporal dementia
    Bizzarro A, Guglielmi V, Lomastro R, Valenza A, Lauria A, Marra C, Silveri MC, Tiziano FD, Brahe C, Masullo C
    Ref: J Neural Transm (Vienna), 117:377, 2010 : PubMed


    Title: Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine
    Scacchi R, Gambina G, Moretto G, Corbo RM
    Ref: American Journal of Medicine Genet B Neuropsychiatr Genet, 150B:502, 2009 : PubMed


    Title: Association of variants of the -116 site of the butyrylcholinesterase BCHE gene to enzyme activity and body mass index
    Furtado-Alle L, Andrade FA, Nunes K, Mikami LR, Souza RL, Chautard-Freire-Maia EA
    Ref: Chemico-Biological Interactions, 175:115, 2008 : PubMed


    Title: Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population
    Mikami LR, Wieseler S, Souza RL, Schopfer LM, Nachon F, Lockridge O, Chautard-Freire-Maia EA
    Ref: Pharmacogenet Genomics, 18:213, 2008 : PubMed


    Title: Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576)
    Parmo-Folloni F, Nunes K, Lepienski LM, Mikami LR, Souza RL, Tsuneto LT, Petzl-Erler ML, Chautard-Freire-Maia EA
    Ref: Chemico-Biological Interactions, 175:135, 2008 : PubMed


    Title: Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia
    Gatke MR, Bundgaard JR, Viby-Mogensen J
    Ref: Pharmacogenet Genomics, 17:995, 2007 : PubMed


    Title: A medical health report on individuals with silent butyrylcholinesterase in the Vysya community of India
    Manoharan I, Boopathy R, Darvesh S, Lockridge O
    Ref: Clinica Chimica Acta, 378:128, 2007 : PubMed


    Title: Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase
    Mikami LR, Wieseler S, Souza RL, Schopfer LM, Lockridge O, Chautard-Freire-Maia EA
    Ref: Pharmacogenet Genomics, 17:681, 2007 : PubMed


    Title: Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene
    Zelinski T, Coghlan G, Mauthe J, Triggs-Raine B
    Ref: Mol Genet Metab, 90:210, 2007 : PubMed


    Title: Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India
    Manoharan I, Wieseler S, Layer PG, Lockridge O, Boopathy R
    Ref: Pharmacogenet Genomics, 16:461, 2006 : PubMed


    Title: Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine
    Levano S, Ginz H, Siegemund M, Filipovic M, Voronkov E, Urwyler A, Girard T
    Ref: Anesthesiology, 102:531, 2005 : PubMed


    Title: Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity
    On-Kei Chan A, Lam CW, Tong SF, Man Tung C, Yung K, Chan YW, Au KM, Yuen YP, Hung CT and Shek CC <1 more author(s)>
    Ref: Clinica Chimica Acta, 351:155, 2005 : PubMed


    Title: Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample
    Souza RL, Mikami LR, Maegawa RO, Chautard-Freire-Maia EA
    Ref: Mol Genet Metab, 84:349, 2005 : PubMed


    Title: Problem with detection of an insertion-type mutation in the BCHE gene in a patient with butyrylcholinesterase deficiency
    Maekawa M, Taniguchi T, Ishikawa J, Toyoda S, Takahata N
    Ref: Clinical Chemistry, 50:2410, 2004 : PubMed


    Title: Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population
    Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM
    Ref: Clinical Chemistry, 49:1297, 2003 : PubMed


    Title: Naturally occurring mutation, Asp70his, in human butyrylcholinesterase
    Boeck AT, Fry DL, Sastre A, Lockridge O
    Ref: Annals of Clinical Biochemistry, 39:154, 2002 : PubMed


    Title: Rapid simultaneous genotyping of the frequent butyrylcholinesterase variants Asp70Gly and Ala539Thr with fluorescent hybridization probes
    Gatke MR, Viby-Mogensen J, Bundgaard JR
    Ref: Scand J Clin Lab Invest, 62:375, 2002 : PubMed


    Title: Novel mutation and multiple mutations found in the human butyrylcholinesterase gene
    Liu W, Cheng J, Iwasaki A, Imanishi H, Hada T
    Ref: Clinica Chimica Acta, 326:193, 2002 : PubMed


    Title: Analysis of Mutations in the Plasma Cholinesterase Gene of Patients with a History of Prolonged Neuromuscular Block during Anesthesia
    Barta C, Sasvari-Szekely M, Devai A, Kovacs E, Staub M, Enyedi P
    Ref: Mol Genet Metab, 74:484, 2001 : PubMed


    Title: Response to mivacurium in a patient compound heterozygous for a novel and a known silent mutation in the butyrylcholinesterase gene: genotyping by sequencing
    Gatke MR, Ostergaard D, Bundgaard JR, Varin F, Viby-Mogensen J
    Ref: Anesthesiology, 95:600, 2001 : PubMed


    Title: Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping
    Hidaka K, Watanabe Y, Tomita M, Ueda N, Higashi M, Minatogawa Y, Iuchi I
    Ref: Clinica Chimica Acta, 303:61, 2001 : PubMed


    Title: Identification of Missense Mutation (G365R) of the Butyrylcholinesterase (BCHE) Gene in a Japanese Patient with Familial Cholinesterasemia
    Sakamoto N, Maeda T, Hidaka K, Teranishi T, Toyoda M, Onishi Y, Kuroda S, Sakaguchi K, Fujisawa T and Iuchi I <2 more author(s)>
    Ref: Kobe J Med Sci, 47:153, 2001 : PubMed


    Title: The butyrylcholinesterase K-variant shows similar cellular protein turnover and quaternary interaction to the wild-type enzyme
    Altamirano CV, Bartels CF, Lockridge O
    Ref: Journal of Neurochemistry, 74:869, 2000 : PubMed


    Title: Association of butyrylcholinesterase K variant with cholinesterase-positive neuritic plaques in the temporal cortex in late-onset Alzheimer's disease
    Lehmann DJ, Nagy Z, Litchfield S, Borja MC, Smith AD
    Ref: Hum Genet, 106:447, 2000 : PubMed


    Title: Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland
    McIlroy SP, Crawford VL, Dynan KB, McGleenon BM, Vahidassr MD, Lawson JT, Passmore AP
    Ref: Journal of Medical Genetics, 37:182, 2000 : PubMed


    Title: [Dibucaine number (DN) and fluoride number (FN) of L330 I mutant recombinant cholinesterase by use of various substrates]
    Akizuki S, Sudo K, Abe M, Abe I, Nakajima T, Ohnishi A, Maekawa M
    Ref: Rinsho Byori, 47:479, 1999 : PubMed


    Title: Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure
    Asanuma K, Yagihashi A, Uehara N, Kida T, Watanabe N
    Ref: Clinica Chimica Acta, 283:33, 1999 : PubMed


    Title: Interaction between the peripheral site residues of human butyrylcholinesterase, D70 and Y332, in binding and hydrolysis of substrates
    Masson P, Xie W, Froment MT, Levitsky V, Fortier PL, Albaret C, Lockridge O
    Ref: Biochimica & Biophysica Acta, 1433:281, 1999 : PubMed


    Title: Structural and hydration changes in the active site gorge of phosporhylated butyrylcholinesterase accompanying the aging process
    Masson P, Fortier PL, Albaret C, Clery C, Guerra P, Lockridge O
    Ref: Chemico-Biological Interactions, 119-120:17, 1999 : PubMed


    Title: Butyrycholinesterase K variant and Alzheimer's disease
    Panegyres PK, Mamotte CD, Vasikaran SD, Wilton S, Fabian V, Kakulas BA
    Ref: Journal of Neurology, 246:369, 1999 : PubMed


    Title: An explanation for the different inhibitory characteristics of human serum butyrylcholinesterase phenotypes deriving from inhibition of atypical heterozygotes
    Simeon-Rudolf V, Kovarik Z, Skrinjaric-Spoljar M, Evans RT
    Ref: Chemico-Biological Interactions, 119-120:159, 1999 : PubMed


    Title: Catalytic parameters for the hydrolysis of butyrylthiocholine by human serum butyrylcholinesterase variants
    Simeon-Rudolf V, Reiner E, Evans RT, George PM, Potter HC
    Ref: Chemico-Biological Interactions, 119-120:165, 1999 : PubMed


    Title: Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease
    Wiebusch H, Poirier J, Sevigny P, Schappert K
    Ref: Hum Genet, 104:158, 1999 : PubMed


    Title: Butyrylcholinesterase genes in individuals with abnormal inhibition numbers and with trace activity: one common mutation and two novel silent genes
    Dey DC, Maekawa M, Sudo K, Kanno T
    Ref: Annals of Clinical Biochemistry, 35:302, 1998 : PubMed


    Title: Butyrylcholinesterase-catalysed hydrolysis of aspirin, a negatively charged ester, and aspirin-related neutral esters
    Masson P, Froment MT, Fortier PL, Visicchio JE, Bartels CF, Lockridge O
    Ref: Biochimica & Biophysica Acta, 1387:41, 1998 : PubMed


    Title: Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia
    Sakamoto N, Hidaka K, Fujisawa T, Maeda M, Iuchi I
    Ref: Clinica Chimica Acta, 274:159, 1998 : PubMed


    Title: No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease
    Singleton AB, Smith G, Gibson AM, Woodward R, Perry RH, Ince PG, Edwardson JA, Morris CM
    Ref: Hum Mol Genet, 7:937, 1998 : PubMed


    Title: Frequencies of the butyrylcholinesterase K mutation in Brazilian populations of European and African origin
    Souza RL, Castro RM, Pereira L, Freund AA, Culpi L, Chautard-Freire-Maia EA
    Ref: Hum Biol, 70:965, 1998 : PubMed


    Title: Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency
    Hidaka K, Iuchi I, Tomita M, Watanabe Y, Minatogawa Y, Iwasaki K, Gotoh K, Shimizu C
    Ref: Ann Hum Genet, 61:491, 1997 : PubMed


    Title: Nonsense mutation in exon 2 of the butyrylcholinesterase gene: a case of familial cholinesterasemia
    Hidaka K, Iuchi I, Yamasaki T, Ueda N, Hukano K
    Ref: Clinica Chimica Acta, 261:27, 1997 : PubMed


    Title: Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer's disease
    Lehmann DJ, Johnston C, Smith AD
    Ref: Hum Mol Genet, 6:1933, 1997 : PubMed


    Title: Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan
    Maekawa M, Sudo K, Dey DC, Ishikawa J, Izumi M, Kotani K, Kanno T
    Ref: Clinical Chemistry, 43:924, 1997 : PubMed


    Title: Importance of aspartate-70 in organophosphate inhibition, oxime re-activation and aging of human butyrylcholinesterase
    Masson P, Froment MT, Bartels CF, Lockridge O
    Ref: Biochemical Journal, 325:53, 1997 : PubMed


    Title: Aging of di-isopropyl-phosphorylated human butyrylcholinesterase
    Masson P, Fortier PL, Albaret C, Froment MT, Bartels CF, Lockridge O
    Ref: Biochemical Journal, 327 ( Pt 2):601, 1997 : PubMed


    Title: Role of aspartate 70 and tryptophan 82 in binding of succinyldithiocholine to human butyrylcholinesterase
    Masson P, Legrand P, Bartels CF, Froment MT, Schopfer LM, Lockridge O
    Ref: Biochemistry, 36:2266, 1997 : PubMed


    Title: Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase
    Primo-Parmo SL, Lightstone H, La Du BN
    Ref: Pharmacogenetics, 7:27, 1997 : PubMed


    Title: Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells
    Sudo K, Maekawa M, Akizuki S, Magara T, Ogasawara H, Tanaka T
    Ref: Biochemical & Biophysical Research Communications, 240:372, 1997 : PubMed


    Title: A new point mutation in cholinesterase: relationship between multiple mutation sites and enzyme activity
    Takagi H, Narahara A, Takayama H, Shimoda R, Nagamine T, Mori M
    Ref: International Hepatology Communications, 6:288, 1997 : PubMed


    Title: Overlapping drug interaction sites of human butyrylcholinesterase dissected by site-directed mutagenesis
    Loewenstein-Lichtenstein Y, Glick D, Gluzman N, Sternfeld M, Zakut H, Soreq H
    Ref: Molecular Pharmacology, 50:1423, 1996 : PubMed


    Title: Asp7O in the peripheral anionic site of human butyrylcholinesterase
    Masson P, Froment MT, Bartels CF, Lockridge O
    Ref: European Journal of Biochemistry, 235:36, 1996 : PubMed


    Title: Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene
    Primo-Parmo SL, Bartels CF, Wiersema B, van der Spek AF, Innis JW, La Du BN
    Ref: American Journal of Human Genetics, 58:52, 1996 : PubMed


    Title: Three different point mutations in the butyrylcholinesterase gene of three Japanese subjects with a silent phenotype: possible Japanese type alleles
    Sudo K, Maekawa M, Kanno T, Akizuki S, Magara T
    Ref: Clinical Biochemistry, 29:165, 1996 : PubMed


    Title: Prolonged response to succinylcholine: a new variant of plasma cholinesterase that is identified as normal by traditional phenotyping methods
    Greenberg CP, Primo-Parmo SL, Pantuck EJ, La Du BN
    Ref: Anesthesia & Analgesia, 81:419, 1995 : PubMed


    Title: A family with hereditary serum cholinesterase deficiency
    Hirasaki S, Koide N, Ujike K, Yamamoto H, Fujita Y, Tanigawa T
    Ref: Internal Medicine, 34:632, 1995 : PubMed


    Title: Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity
    Hohler T, Hundt M, Rittner C, Schneider PM, Meyer zum Buschenfelde KH
    Ref: Journal of Medical Genetics, 32:109, 1995 : PubMed


    Title: Mutations of human butyrylcholinesterase gene in a family with hypocholinesterasemia
    Iida S, Kinoshita M, Fujii H, Moriyama Y, Nakamura Y, Yura N, Moriwaki K
    Ref: Hum Mutat, 6:349, 1995 : PubMed


    Title: Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes
    Maekawa M, Sudo K, Kanno T, Kotani K, Dey DC, Ishikawa J, Izumi M, Etoh K
    Ref: Clinica Chimica Acta, 235:41, 1995 : PubMed


    Title: Peripheral Anionic Site of Wild-Type and Mutant Human Butyrylcholinesterase
    Masson P, Froment MT, Bartels CF, Lockridge O
    Ref: In Enzyme of the Cholinesterase Family - Proceedings of Fifth International Meeting on Cholinesterases, (Quinn, D.M., Balasubramanian, A.S., Doctor, B.P., Taylor, P., Eds) Plenum Publishing Corp.:230, 1995 : PubMed


    Title: Population diversity and distinct haplotype frequencies associated with ACHE and BCHE genes of Israeli Jews from trans-Caucasian Georgia and from Europe
    Ehrlich G, Ginzberg D, Loewenstein Y, Glick D, Kerem B, Ben-Ari S, Zakut H, Soreq H
    Ref: Genomics, 22:288, 1994 : PubMed


    Title: Butyrylcholinesterase K-variant in Japan: frequency of allele and associated enzyme activity in serum [letter]
    Izumi M, Maekawa M, Kanno T
    Ref: Clinical Chemistry, 40:1606, 1994 : PubMed


    Title: A new detection method for the K variant of butyrylcholinesterase based on PCR primer introduced restriction analysis (PCR-PIRA)
    Shibuta K, Abe M, Suzuki T
    Ref: Journal of Medical Genetics, 31:576, 1994 : PubMed


    Title: Recombinant human butyrylcholinesterase G390V, the fluoride-2 variant, expressed in Chinese hamster ovary cells, is a low affinity variant
    Masson P, Adkins S, Gouet P, Lockridge O
    Ref: Journal of Biological Chemistry, 268:14329, 1993 : PubMed


    Title: [Gene analysis of human cholinesterase variants].
    Muratani K, Hada T, Higashino K
    Ref: Nippon Rinsho Japanese Journal of Clinical Medicine, 51:495, 1993 : PubMed


    Title: DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites
    Bartels CF, Jensen FS, Lockridge O, van der Spek AF, Rubinstein HM, Lubrano T, La Du BN
    Ref: American Journal of Human Genetics, 50:1086, 1992 : PubMed


    Title: DNA mutations associated with the human butyrylcholinesterase J-variant
    Bartels CF, James K, La Du BN
    Ref: American Journal of Human Genetics, 50:1104, 1992 : PubMed


    Title: A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis
    Hada T, Muratani K, Ohue T, Imanishi H, Moriwaki Y, Itoh M, Amuro Y, Higashino K
    Ref: Intern Med, 31:357, 1992 : PubMed


    Title: [Identification of two different genetic mutation associated with silent phenotypes for human serum cholinesterase in Japanese]
    Hidaka K, Iuchi I, Yamasaki T, Ohhara M, Shoda T, Primo-Parmo SL, La Du BN
    Ref: Rinsho Byori, 40:535, 1992 : PubMed


    Title: Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families
    Jensen FS, Bartels CF, La Du BN
    Ref: Pharmacogenetics, 2:234, 1992 : PubMed


    Title: Intramolecular relationships in cholinesterases revealed by oocyte expression of site-directed and natural variants of human BCHE
    Neville LF, Gnatt A, Loewenstein Y, Seidman S, Ehrlich G, Soreq H
    Ref: EMBO Journal, 11:1641, 1992 : PubMed


    Title: Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase
    Nogueira CP, Bartels CF, McGuire MC, Adkins S, Lubrano T, Rubinstein HM, Lightstone H, van der Spek AF, Lockridge O, La Du BN
    Ref: American Journal of Human Genetics, 51:821, 1992 : PubMed


    Title: Heterogeneity of the Silent Phenotype of Human Butyrylcholinesterase - Identification of Eight New Mutations
    Primo-Parmo SL, Bartels CF
    Ref: In Multidisciplinary approaches to cholinesterase functions - Proceedings of Fourth International Meeting on Cholinesterases, (Shafferman, A. and Velan, B., Eds) Plenum Press, New York:61, 1992 : PubMed


    Title: The cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26
    Allderdice PW, Gardner HA, Galutira D, Lockridge O, La Du BN, McAlpine PJ
    Ref: Genomics, 11:452, 1991 : PubMed


    Title: Refinement of the localization of human butyrylcholinesterase to chromosome 3q26.1-q26.2 using a PCR-derived probe
    Gaughan G, Park H, Priddle J, Craig I, Craig S
    Ref: Genomics, 11:455, 1991 : PubMed


    Title: Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition
    Muratani K, Hada T, Yamamoto Y, Kaneko T, Shigeto Y, Ohue T, Furuyama J, Higashino K
    Ref: Proc Natl Acad Sci U S A, 88:11315, 1991 : PubMed


    Title: Frequency of the CHE1*K allele of serum cholinesterase in a sample from southern Brazil
    Alcantara VM, Chautard-Freire-Maia EA, Picheth G, Vieira MM
    Ref: Hum Hered, 40:386, 1990 : PubMed


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