title: Genomic organization and analysis of the 5' end of the porcine ryanodine receptor gene (ryr1).
abstract: 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.
authors.affiliation: Lehrstuhl für Molekulare Tierzucht, Veterinärmedizinische Fakultät Ludwig-Maximilians-Universität München, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Brenig
authors.forename: G
authors.initials: G
authors.lastname: Brem
mesh_terms: D000818:Animals; D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics* / Q000378:metabolism; D004247:DNA; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics / Q000662:veterinary; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000662:veterinary; D011950:Receptors, Cholinergic / Q000235:genetics* / Q000378:metabolism; D015183:Restriction Mapping; D019837:Ryanodine Receptor Calcium Release Channel; D012689:Sequence Homology, Nucleic Acid; D013552:Swine; D013553:Swine Diseases / Q000235:genetics
chemical_list: D015220:Calcium Channels; D011950:Receptors, Cholinergic; D019837:Ryanodine Receptor Calcium Release Channel; D004247:DNA