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Homology of DNA sequences encompassing the malignant hyperthermia mutation site in the human, porcine, and zebrine ryr1 gene

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Gronek P., Slomski R., Lisiecka D., Plawski A., Nuc K., Banasiewicz T.
Journal of Applied Genetics
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1998
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vol. 39
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issue 3
275-279
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 (ryr1) 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.
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