Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C)

Anesthesia and Analgesia

Volumn 101, Issue 5, 2005, Pages 1401-1406

  Yeh, Huei Ming ^a   Tsai, Mei Chuan ^b   Su, Yi Ning ^a   Shen, Rong Ching ^b   Hwang, Jeuy Jen ^a   Sun, Wei Zen ^a   Lai, Ling Ping ^a,b  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; RECEPTOR SUBTYPE; RYANODINE RECEPTOR; RYANODINE RECEPTOR 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 19Q; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FEMALE; GENE MUTATION; HUMAN; MALE; MALIGNANT HYPERTHERMIA; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; SURGICAL PATIENT; TAIWAN;

EID: 27444435235     PISSN: 00032999     EISSN: None     Source Type: Journal    
DOI: 10.1213/01.ANE.0000180214.74580.39     Document Type: Article

References (27)

1. Denborough M, Lovell R. Anaesthetic deaths in a family. Lancet 1960;2:45.
2. Nelson TE, Flewellen EH. The malignant hyperthermia syndrome. N Engl J Med 1983;309:416-8.
3. Britt BA, Locher WG, Kalow W. Hereditary aspects of malignant hyperthermia. Can Anaesth Soc J 1969;16:89-98.
4. Mickelson JR, Louis CF. Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects. Physiol Rev 1996;76:537-92.
5. McCarthy TV, Healy JM, Heffron JJ, et al. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 1990;343:562-4.
6. MacLennan DH, Duff C, Zorzato F, et al. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 1990;343:559-61.
7. Tammaro A, Bracco A, Cozzolino S, et al. Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles. Clin Chem 2003;49:761-8.
8. Rosenberg H, Reed S. In vitro contracture tests for susceptibility to malignant hyperthermia. Anesth Analg 1983;62:415-20.
9. Ording H, Brancadoro V, Cozzolino S, et al. In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group. Acta Anaesthesiol Scand 1997;41:955-66.
10. Brandt A, Schleithoff L, Jurkat-Rott K, et al. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in-vitro contracture test. Hum Mol Genet 1999;8:2055-62.
11. Keating KE, Giblin L, Lynch PJ, et al. Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. J Med Genet 1997;34:291-6.
12. Manning BM, Quane KA, Ording H, et al. Identification of novel mutations in the ryanodine receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet 1998;62:599-609.
13. Takeshima H, Nishimura S, Matsumoto T, et al. Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor. Nature 1989;339:439-45.
14. Zorzato F, Fujii J, Otsu K, et al. Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J Biol Chem 1990;265:2244-56.
15. Phillips MS, Fujii J, Khanna VK, et al. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics 1996;34:24-41.
16. Rueffert H, Olthoff D, Deutrich C, et al. Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Acta Anaesthesiol Scand 2002;46:692-8.
17. Quane KA, Keating KE, Healy JMS, et al. Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. Genomics 1994;23:236-9.
18. Orita M, Iwahana H, Kanazawa H, et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;86:2766-70.
19. Ravnik-Glavac M, Glavac D, Dean M. Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum Mol Genet 1994;3:801-7.
20. Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001;17:439-74.
21. Wagner T, Stoppa-Lyonnet D, Fleischmann E, et al. Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 1999;62:369-76.
22. Escary JL, Cecillon M, Maciazek J, et al. Evaluation of DHPLC analysis in mutational scanning of notch3, a gene with a high G-C content. Hum Mutat 2000;16:518-26.
23. Buyse IM, Fang P, Hoon KT, et al. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet 2000;67:1428-36.
24. Benit P, Kara-Mostefa A, Berthelon M, et al. Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography. Hum Mutat 2000;6:417-21.
25. van Den Bosch BJ, de Coo RF, Scholte HR, et al. Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatograph. Nucleic Acids Res 2000;28:E89.
26. Urwyler A, Deufel T, McCarthy T, West S. Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 2001;86:283-7.
27. Sei Y, Sambuughin N, Muldoon S. Malignant hyperthermia genetic testing in North America Working Group Meeting. Anesthesiology 2004;100:464-5.