메뉴 건너뛰기




Volumn 60, Issue 4, 1997, Pages 833-841

The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree

Author keywords

[No Author keywords available]

Indexed keywords

RYANODINE RECEPTOR;

EID: 16944363674     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (34)

References (41)
  • 2
    • 0027409513 scopus 로고
    • The genetics of malignant hyperthermia
    • Ball SP, Johnson KJ (1993) The genetics of malignant hyperthermia. J Med Genet 30:89-93
    • (1993) J Med Genet , vol.30 , pp. 89-93
    • Ball, S.P.1    Johnson, K.J.2
  • 4
    • 0026532310 scopus 로고
    • A dinucleotide repeat polymorphism at the HOX2B locus
    • Deinard AS, Ruano G, Kidd KK (1992) A dinucleotide repeat polymorphism at the HOX2B locus. Nucleic Acids Res 20: 1171
    • (1992) Nucleic Acids Res , vol.20 , pp. 1171
    • Deinard, A.S.1    Ruano, G.2    Kidd, K.K.3
  • 5
    • 0029002150 scopus 로고
    • Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-q13.2, comprising the C1840T transition in the RYR1 gene
    • Deufel T, Sudbrak R, Feist Y, Rübsam B, Du Chesne I, Schäfer K-L, Roewer N, et al (1995) Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-q13.2, comprising the C1840T transition in the RYR1 gene. Am J Hum Genet 56:1334-1342.
    • (1995) Am J Hum Genet , vol.56 , pp. 1334-1342
    • Deufel, T.1    Sudbrak, R.2    Feist, Y.3    Rübsam, B.4    Du Chesne, I.5    Schäfer, K.-L.6    Roewer, N.7
  • 6
    • 0027363063 scopus 로고
    • Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse
    • Dietrich W, Lander ES, Smith JS, Moser AR, Gould KA, Luongo C, Borenstein N, et al (1993) Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell 75:631-639
    • (1993) Cell , vol.75 , pp. 631-639
    • Dietrich, W.1    Lander, E.S.2    Smith, J.S.3    Moser, A.R.4    Gould, K.A.5    Luongo, C.6    Borenstein, N.7
  • 8
    • 0021149183 scopus 로고
    • A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility
    • European Malignant Hyperthermia Group (EMHG) (1984) A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth 56:1267-1269
    • (1984) Br J Anaesth , vol.56 , pp. 1267-1269
  • 9
    • 85048353046 scopus 로고
    • Laboratory diagnosis of malignant hyperthermia susceptibility (MHS)
    • _ (1985) Laboratory diagnosis of malignant hyperthermia susceptibility (MHS). Br J Anaesth 57:1038
    • (1985) Br J Anaesth , vol.57 , pp. 1038
  • 10
    • 0026662792 scopus 로고
    • Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia
    • Gillard EF, Ostu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, et al (1992) Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics 13:1247-1254
    • (1992) Genomics , vol.13 , pp. 1247-1254
    • Gillard, E.F.1    Ostu, K.2    Fujii, J.3    Duff, C.4    De Leon, S.5    Khanna, V.K.6    Britt, B.A.7
  • 12
    • 0025006128 scopus 로고
    • Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11-q21 segment of chromosome 6
    • Harbitz I, Chowghary B, Thomsen PD, Davies W, Kaufmann U, Kran S, Gustavsson I, et al (1990) Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11-q21 segment of chromosome 6. Genomics 8:243-248
    • (1990) Genomics , vol.8 , pp. 243-248
    • Harbitz, I.1    Chowghary, B.2    Thomsen, P.D.3    Davies, W.4    Kaufmann, U.5    Kran, S.6    Gustavsson, I.7
  • 13
    • 0343476852 scopus 로고
    • Inherited disease affecting anaesthesia
    • Healy TEL, Cohen PJ (eds). Edward Arnold, London
    • Hopkins PM, Ellis FR (1995) Inherited disease affecting anaesthesia. In: Healy TEL, Cohen PJ (eds) A Practice of anaesthesia, 6th ed. Edward Arnold, London, pp 938-952
    • (1995) A Practice of Anaesthesia, 6th Ed. , pp. 938-952
    • Hopkins, P.M.1    Ellis, F.R.2
  • 14
    • 16944362587 scopus 로고    scopus 로고
    • Predictive probability for in vitro contracture tests in estimating likelihood of malignant hyperthermia susceptibility
    • in press
    • Hopkins PM, Halsall PJ, Ellis FR, Stewart AD. Predictive probability for in vitro contracture tests in estimating likelihood of malignant hyperthermia susceptibility. Anesth Analg (in press)
    • Anesth Analg
    • Hopkins, P.M.1    Halsall, P.J.2    Ellis, F.R.3    Stewart, A.D.4
  • 15
    • 0029035645 scopus 로고
    • Anesthetic complications in muscle disorders
    • Iaizzo PA, Lehmann-Horn F (1995) Anesthetic complications in muscle disorders. Anesthesiology 82:1093-1096
    • (1995) Anesthesiology , vol.82 , pp. 1093-1096
    • Iaizzo, P.A.1    Lehmann-Horn, F.2
  • 18
    • 0027279886 scopus 로고
    • 1-and γ-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility
    • 1-and γ-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. Hum Mol Genet 2:863-868
    • (1993) Hum Mol Genet , vol.2 , pp. 863-868
    • Iles, D.E.1    Segers, B.2    Sengers, R.C.3    Monsieurs, K.4    Heytens, L.5    Halsall, P.J.6    Hopkins, P.M.7
  • 19
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
    • Kajiwara K, Berson EL, Dryja TP (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264:1604-1608
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 20
    • 0014969922 scopus 로고
    • Metabolic error of muscle metabolism after recovery from malignant hyperthermia
    • Kalow W, Britt BA, Terreau ME, Haist C (1970) Metabolic error of muscle metabolism after recovery from malignant hyperthermia. Lancet 2:895-898
    • (1970) Lancet , vol.2 , pp. 895-898
    • Kalow, W.1    Britt, B.A.2    Terreau, M.E.3    Haist, C.4
  • 21
    • 0025751590 scopus 로고
    • Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19
    • Kausch K, Lehmann-Horn F, Janka M, Wieringa B, Grimm T, Müller CR (1991) Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 10:765-769
    • (1991) Genomics , vol.10 , pp. 765-769
    • Kausch, K.1    Lehmann-Horn, F.2    Janka, M.3    Wieringa, B.4    Grimm, T.5    Müller, C.R.6
  • 23
    • 0026526444 scopus 로고
    • Evidence for the localization of a malignant hyperthermia susceptibility locus (MSH2) to chromosome 17q
    • Levitt RC, Olckers A, Meyers S, Fletcher JE, Rosenberg H, Isaacs H, Meyers DA (1992) Evidence for the localization of a malignant hyperthermia susceptibility locus (MSH2) to chromosome 17q. Genomics 14:562-566
    • (1992) Genomics , vol.14 , pp. 562-566
    • Levitt, R.C.1    Olckers, A.2    Meyers, S.3    Fletcher, J.E.4    Rosenberg, H.5    Isaacs, H.6    Meyers, D.A.7
  • 26
    • 0026741581 scopus 로고
    • Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita
    • McClatchey AI, Trofatter J, McKenna-Yasek D, Raskind W, Bird T, Pericak-Vance M, Gilchrist J, et al (1992) Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am J Hum Genet 50:896-901
    • (1992) Am J Hum Genet , vol.50 , pp. 896-901
    • McClatchey, A.I.1    Trofatter, J.2    McKenna-Yasek, D.3    Raskind, W.4    Bird, T.5    Pericak-Vance, M.6    Gilchrist, J.7
  • 27
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 29
    • 0026774858 scopus 로고
    • A comprehensive genetic linkage map of the human genome
    • NIH/CEPH Collaborative Mapping Group (1992) A comprehensive genetic linkage map of the human genome. Science 258:67-86
    • (1992) Science , vol.258 , pp. 67-86
  • 31
    • 0025612129 scopus 로고
    • Intrinsic potential for high fetal hemoglobin production in a Druze family with β-thalassemia is due to an unlinked genetic determinant
    • Oppenheim A, Yaaru A, Rund D, Rachmilewitz EA, Nathan D, Wong C, Kazazian HH Jr, et al (1990) Intrinsic potential for high fetal hemoglobin production in a Druze family with β-thalassemia is due to an unlinked genetic determinant. Hum Genet 86:175-180
    • (1990) Hum Genet , vol.86 , pp. 175-180
    • Oppenheim, A.1    Yaaru, A.2    Rund, D.3    Rachmilewitz, E.A.4    Nathan, D.5    Wong, C.6    Kazazian Jr., H.H.7
  • 32
    • 0028221445 scopus 로고
    • Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalaemic periodic paralysis and paramyotonia congenita: Phenotype to genotype correlations and demonstration of the predominance of two mutations
    • Plassart E, Reboul J, Rime C-S, Recan D, Millasseau P, Eymard B, Pelletier J, et al (1994) Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalaemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations. Eur J Hum Genet 2: 110-124
    • (1994) Eur J Hum Genet , vol.2 , pp. 110-124
    • Plassart, E.1    Reboul, J.2    Rime, C.-S.3    Recan, D.4    Millasseau, P.5    Eymard, B.6    Pelletier, J.7
  • 34
    • 0028207086 scopus 로고
    • Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: Implications for diagnosis and heterogeneity studies
    • Quane KA, Keating KE, Manning BM, Healy JMS, Monsieurs K, Heffron JJA, Lehane M, et al (1994) Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet 3:471-476
    • (1994) Hum Mol Genet , vol.3 , pp. 471-476
    • Quane, K.A.1    Keating, K.E.2    Manning, B.M.3    Healy, J.M.S.4    Monsieurs, K.5    Heffron, J.J.A.6    Lehane, M.7
  • 35
    • 0030064170 scopus 로고    scopus 로고
    • Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family
    • Serfas KD, Bose D, Patel L, Wrogemann K, Phillips MS, MacLennan DH, Greenberg CR (1996) Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Anesthesiology 84:322-329
    • (1996) Anesthesiology , vol.84 , pp. 322-329
    • Serfas, K.D.1    Bose, D.2    Patel, L.3    Wrogemann, K.4    Phillips, M.S.5    MacLennan, D.H.6    Greenberg, C.R.7
  • 38
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388-396
    • (1989) Am J Hum Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 39
    • 0025303763 scopus 로고
    • Dinucleotide repeat polymorphism at the D19S49 locus
    • Weber JL, May PE, Kappel C (1990) Dinucleotide repeat polymorphism at the D19S49 locus. Nucleic Acids Res 18:1927
    • (1990) Nucleic Acids Res , vol.18 , pp. 1927
    • Weber, J.L.1    May, P.E.2    Kappel, C.3
  • 41
    • 1842312420 scopus 로고    scopus 로고
    • The genetics of malignant hyperthermia
    • Ellis FR, Hopkins PM (eds). Cambridge University Press, Cambridge
    • West SP (1996) The genetics of malignant hyperthermia. In: Ellis FR, Hopkins PM (eds) Hyperthermic and hypermetabolic disorders. Cambridge University Press, Cambridge, pp 184-201
    • (1996) Hyperthermic and Hypermetabolic Disorders , pp. 184-201
    • West, S.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.