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Genomic organization and analysis of the 5′ end of the porcine ryanodine receptor gene ( ryr1 )
Author(s) -
Brenig Bertram,
Brem Gottfried
Publication year - 1992
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(92)80076-s
Subject(s) - ryr1 , malignant hyperthermia , ryanodine receptor , biology , genomic dna , microbiology and biotechnology , gene , exon , intron , dna sequencing , genetics , genomic library , dna , receptor , peptide sequence , medicine , pathology
In this study we describe the isolation of genomic clones of the 5′ region of the porcine ryanodine receptor gene, a candidate for malignant hyperthermia in pigs and humans. The recombinants were isolated from a porcine liver, genomic DNA library in phage EMBL3A after screening with PCR amplified DNA fragments. The exon/intron structure of the ryanodine receptor gene was determined by DNA sequencing. Based on the sequence data it was possible to develop a simple test for the detection of malignant hyperthermia susceptible and normal pigs.