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1998 | 39 | 3 |

Tytuł artykułu

Homology of DNA sequences encompassing the malignant hyperthermia mutation site in the human, porcine, and zebrine ryrl gene

Treść / Zawartość

Warianty tytułu

Języki publikacji

EN

Abstrakty

EN
The RYR1 gene encoding the Ca²⁺ channel of sarcoplasmic reticulum of human skeletal muscle has been cloned and its nucleotide sequence has been determined earlier. We have used the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP), and sequencing analysis for human, porcine (Sus scrofa), and zebrine (Equus grevyi) ryanodine receptor (ryrl) gene. The fragment of exon 17 of the ryr1 gene was characterized by a high homology between all the analysed species (substitution of a nucleotide is underlined): porcine ryr1 ¹⁸³⁴GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁹ human RYR1 ¹⁸³¹GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁶ zebrine ryr1 GTG GCC GTG CGC TCC AAC CAA GAC CT.

Wydawca

-

Rocznik

Tom

39

Numer

3

Opis fizyczny

p.275-279,fig.

Twórcy

autor
  • Agricultural University of Poznan, Wolynska 33, 60-637 Poznan, Poland
autor
autor
autor
autor

Bibliografia

  • Britt В.A. (ed.) (1987). Malignant hyperthermia. Nijkoff Boston: 11-42.
  • De Jong R.H., Heavner J.E., Amory D.W. (1974). Malignant hyperthermia in the cat. Anesthesiology 41: 608-609.
  • Deufel T., Sudbrak R., Feist Y., Rübsam B., Du Chesne I., Schäfer K.L., Roewer N., Grimm T., Lehmann-Horn F., Hartung E.J., Müller C.R. (1995). Discordance, in a malignant hyperthermia pedigree, between in vitro constructure - Test phenotypes and haplotypes for the MHSI region on chromosome 19ql2-13.2, comprising the C1840T transition in the RYR1 gene. Am. J. Hum. Genet. 56: 1334-1343.
  • Fujii J., Otsu K., Zorzato F., De Leon S., Khanna V.K., Weiler J.E., O’Brien P.J., MacLennan D.H. (1991). Identification of a point mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science 253: 448-451.
  • Henschel J.R., Louw G.N. (1987). Capture stress, metabolic acidosis and hyperthermia in birds. S. Afr. J. Sci. 74: 305-306.
  • Keating E.K., Quante K.A., Manning M.B., Lehane M., Hartung E., Censier K., Urwyler A., Klausnitzer M., Müller C.R., Hefron J.J.A., McCarthy T.V. (1994). Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum. Mol. Genet. 3: 1855-1858.
  • MacKanzie A.E., Korneluk R.G., Zorzato F., Fujii J., Phillips M., Iles D., Wieringa B., Leblond S., Bailly J., Willard H.F., Duff C., Worton R.G., MacLennan D.H. (1990). The human ryanodine receptor gene: Its mapping to 19ql3.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy. Am. J. Hum. Genet. 46: 1082-1089.
  • Orita M., Iwahana H., Kanazawa H., Hayashi, K., Sekiya T. (1989). Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformation polymorphism. Proc. Natl. Acad. Sci. USA 86: 2766-2770.
  • Otsu K., Khanna V.K., Archibald A.L., MacLennan D.H. (1991). Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the sceletal muscle ryanodine receptor gene in backcross families. Genomics 11: 744-750.
  • Phillips M.S., Fujii J., Khanna V.K., Deleon S., Yokobata K., De Jong P.J., MacLennan D.H. (1996). The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics 34: 24-41.
  • Short C.E., Paddleford R.R. (1973). Malignant hyperthermia in the dog. Anaesthesiology 39: 462-463.
  • Stranzinger G. (1990). Gene and chromosome homologies in different species. In: Genome Analysis in Domestic Animals. Ed. Gelderman and Ellendorf, VCH Verlag.

Typ dokumentu

Bibliografia

Identyfikatory

Identyfikator YADDA

bwmeta1.element.agro-article-ff82f248-1de3-43cd-82f0-b019e9c8d219
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