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Simultaneous detection of malignant hyperthermia and genetic predisposition for improved litter size in pigs by multiplex PCR-RFLP

100%

Omelka R., Vasicek D., Martiniakova M., Bulla J., Bauerova M.

Folia Biologica

2004

tom 52

nr 1-2

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

80%

Gronek P., Slomski R., Lisiecka D., Plawski A., Nuc K., Banasiewicz T.

Journal of Applied Genetics

1998

tom 39

nr 3

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.

Molecular basis of malignant hyperthermia

80%

Gronek P., Slomski R.

Journal of Applied Genetics

1997

tom 38

nr 3

Malignant hyperthermia (MH) is a clinical syndrome in which genetically susceptible individuals respond to the administration of potent inhalation anaesthetics and depolarization skeletal muscle relaxants with skeletal rigidity, unstable blood pressure, tachycardia, arrhythmias, hyperventilation, hypoxia, lactic and respiratory acidosis and high fever. In studies of the genetic basis of MH, a mutation was identified in the porcine (C1843T) and human (C1840T) skeletal muscle ryanodine receptor (RYR1) gene. This gene is mapped on human chromosome 19q13.1. The RYR1 gene contains 106 exons, of which two arc alternatively spliced.

Ograniczanie wyników

2 Journal of Applied Genetics

1 Folia Biologica

2 Gronek P.

2 Slomski R.

1 Banasiewicz T.

1 Bauerova M.

1 Bulla J.

1 Lisiecka D.

1 Martiniakova M.

1 Nuc K.

1 Omelka R.

1 Plawski A.

1 Vasicek D.

1 2004

1 1998

1 1997

Wyniki wyszukiwania

Simultaneous detection of malignant hyperthermia and genetic predisposition for improved litter size in pigs by multiplex PCR-RFLP

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

Molecular basis of malignant hyperthermia