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Volumn 35, Issue 2, 1998, Pages 302-310

Butyrylcholinesterase genes in individuals with abnormal inhibition numbers and with trace activity: One common mutation and two novel silent genes

Author keywords

Missense mutation; Nonsense mutation; PCR RFLP; PCR SSCP; Phenotyping

Indexed keywords

CHOLINESTERASE; CINCHOCAINE; DNA; FLUORIDE;

EID: 0031883404     PISSN: 00045632     EISSN: None     Source Type: Journal    
DOI: 10.1177/000456329803500217     Document Type: Article
Times cited : (11)

References (20)
  • 1
    • 49749223413 scopus 로고
    • The familial incidence of low pseudocholinesterase level
    • Lehmann H, Ryan E. The familial incidence of low pseudocholinesterase level. Lancet 1956; ii: 124
    • (1956) Lancet , vol.2 , pp. 124
    • Lehmann, H.1    Ryan, E.2
  • 2
    • 0142022251 scopus 로고
    • On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers
    • 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
    • (1957) Can J Biochem Physiol , vol.35 , pp. 1305-1317
    • Kalow, W.1    Staron, N.2
  • 3
    • 70449162191 scopus 로고
    • A method for the detection of atypical forms of human serum cholinesterase: Determination of dibucaine numbers
    • 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
    • (1957) Can J Biochem Physiol , vol.35 , pp. 339-346
    • Kalow, W.1    Genest, K.2
  • 4
    • 0001738098 scopus 로고
    • Differential inhibition of human serum cholinesterase with fluoride: Recognition of two new phenotypes
    • Harris H, Whittaker M. Differential inhibition of human serum cholinesterase with fluoride: recognition of two new phenotypes. Nature 1961; 191: 496-8
    • (1961) Nature , vol.191 , pp. 496-498
    • Harris, H.1    Whittaker, M.2
  • 5
    • 0023161022 scopus 로고
    • h a new allele at cholinesterase locus 1
    • h a new allele at cholinesterase locus 1. Hum Hered 1987; 37: 54-8
    • (1987) Hum Hered , vol.37 , pp. 54-58
    • Whittaker, M.1    Britten, J.J.2
  • 6
    • 0026659642 scopus 로고
    • DNA Mutations associated with the human butyrylcholinesterase J-variant
    • Bartels CF, James K, La Du BN. DNA Mutations associated with the human butyrylcholinesterase J-variant. Am J Hum Genet 1992; 50: 1104-14
    • (1992) Am J Hum Genet , vol.50 , pp. 1104-1114
    • Bartels, C.F.1    James, K.2    La Du, B.N.3
  • 7
    • 0026695539 scopus 로고
    • 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. 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
    • (1992) Am J Hum Genet , vol.50 , pp. 1086-1103
    • Bartels, C.F.1    Jensen, F.S.2    Lockridge, O.3
  • 8
    • 0025280385 scopus 로고
    • Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT→GGAG)
    • Nogueira CP, McGuire MC, Graeser C. 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
    • (1990) Am J Hum Genet , vol.46 , pp. 934-942
    • Nogueira, C.P.1    McGuire, M.C.2    Graeser, C.3
  • 9
    • 0028936085 scopus 로고
    • 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, et al. Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes. Clin Chim Acta 1995; 235: 41-57
    • (1995) Clin Chim Acta , vol.235 , pp. 41-57
    • Maekawa, M.1    Sudo, K.2    Kanno, T.3    Kotani, K.4    Dey, D.C.5    Ishikawa, J.6
  • 11
    • 0030003649 scopus 로고    scopus 로고
    • 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, Niagara T. Three different point mutations in the butyrylcholinesterase gene of three Japanese subjects with a silent phenotype: Possible Japanese type alleles. Clin Biochem 1996; 29: 165-9
    • (1996) Clin Biochem , vol.29 , pp. 165-169
    • Sudo, K.1    Maekawa, M.2    Kanno, T.3    Akizuki, S.4    Niagara, T.5
  • 12
    • 0030926345 scopus 로고    scopus 로고
    • Genetic mutations of butyrylcholine esterase identified from its phenotypic abnormalities in Japan
    • Maekawa M, Sudo K, Dilip Chandra Dey, Ishikawa J, Izumi M, Kotani K. et al. Genetic mutations of butyrylcholine esterase identified from its phenotypic abnormalities in Japan. Clin Chem 1997; 43: 924-9
    • (1997) Clin Chem , vol.43 , pp. 924-929
    • Maekawa, M.1    Sudo, K.2    Dey, D.C.3    Ishikawa, J.4    Izumi, M.5    Kotani, K.6
  • 13
    • 0012605801 scopus 로고
    • Colorimetric determination of serum cholinesterase and its genetic variants by the propionylthiocholinedithiobis (nitrobenzoic acid) procedure
    • Cooper GR, King JS, eds. Washington, DC: American Association for Clinical Chemistry
    • Dietz AA, Rubinstein HM, Lubrano T. Colorimetric determination of serum cholinesterase and its genetic variants by the propionylthiocholinedithiobis (nitrobenzoic acid) procedure. In: Cooper GR, King JS, eds. Selected methods for the small clinical chemistry laboratory, vol 8. Washington, DC: American Association for Clinical Chemistry, 1977: 41-6
    • (1977) Selected Methods for the Small Clinical Chemistry Laboratory , vol.8 , pp. 41-46
    • Dietz, A.A.1    Rubinstein, H.M.2    Lubrano, T.3
  • 14
    • 1842353216 scopus 로고
    • Analysis of human Y chromosome-specific reiterated DNA in chromosome variants
    • Kunkel LM, Smith KD, Boyer SH. Analysis of human Y chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977; 74: 1245-9
    • (1977) Proc Natl Acad Sci USA , vol.74 , pp. 1245-1249
    • Kunkel, L.M.1    Smith, K.D.2    Boyer, S.H.3
  • 15
    • 0025786580 scopus 로고
    • Analysis of genetic mutations in human lactate dehydrogenase-A (M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining
    • Maekawa M, Sudo K, Li SS-L, Kanno T. Analysis of genetic mutations in human lactate dehydrogenase-A (M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining. Biochem Biophys Res Commun 1991; 180: 1083-90
    • (1991) Biochem Biophys Res Commun , vol.180 , pp. 1083-1090
    • Maekawa, M.1    Sudo, K.2    Li, S.S.-L.3    Kanno, T.4
  • 16
    • 0027428073 scopus 로고
    • Search for improved electrophoretic conditions for PCR-single strand conformation polymorphism analysis: Is an SDS buffer condition useful?
    • Maekawa M, Sudo K, Kanno T. Search for improved electrophoretic conditions for PCR-single strand conformation polymorphism analysis: is an SDS buffer condition useful? PCR Methods Appl 1993; 3: 130-2
    • (1993) PCR Methods Appl , vol.3 , pp. 130-132
    • Maekawa, M.1    Sudo, K.2    Kanno, T.3
  • 17
    • 0024409196 scopus 로고
    • Designed diagnostic restriction fragment length polymorphisms for the detection of point mutations in ras oncogenes
    • Kumar R, Dunn LL. Designed diagnostic restriction fragment length polymorphisms for the detection of point mutations in ras oncogenes. Oncogene Res 1989; 4: 235-41
    • (1989) Oncogene Res , vol.4 , pp. 235-241
    • Kumar, R.1    Dunn, L.L.2
  • 18
    • 0028026675 scopus 로고
    • Butyrylcholinesterase K-variant in Japan: Frequency of allele and associated enzyme activity in serum
    • Izumi M, Maekawa M, Kanno T. Butyrylcholinesterase K-variant in Japan: Frequency of allele and associated enzyme activity in serum. Clin Chem 1994; 40: 1606-7
    • (1994) Clin Chem , vol.40 , pp. 1606-1607
    • Izumi, M.1    Maekawa, M.2    Kanno, T.3
  • 19
    • 0002221497 scopus 로고
    • Cholinesterase
    • Beckman L, ed. Basel: Karger
    • Whittaker M. Cholinesterase. In: Beckman L, ed. Monographs in Human Genetics, vol 11. Basel: Karger, 1986
    • (1986) Monographs in Human Genetics , vol.11
    • Whittaker, M.1
  • 20
    • 0026549893 scopus 로고
    • Detecting single base substitutions as heteroduplex polymorphisms
    • White MB, Carvalho M, Derse D, O'Brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992; 12: 301-6
    • (1992) Genomics , vol.12 , pp. 301-306
    • White, M.B.1    Carvalho, M.2    Derse, D.3    O'Brien, S.J.4    Dean, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.