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Short communication: Single tube allele specific (STAS) PCR for direct determination of the mutation in the porcine ryanodine receptor gene associated with malignant hyperthermia
Authors:N. Zinovieva  D. Vasicek  B. Aigner  M. Muller  G. Brem
Affiliation:1. Institute for Animal Breeding and Genetics , Veterinarmedizinische Universit?t Wien , Josef Baumann Gasse 1, Wien, A‐1210, Austria;2. Dept. of Biotechnology in Animal Production , Interuniversit?res Forschungsinstitut für Agrarbiotechnologie (IFA) , Konrad Lorenz Str. 20, Tulin, A‐3430, Austria;3. Dept. of Biotechnology in Animal Production , Interuniversit?res Forschungsinstitut für Agrarbiotechnologie (IFA) , Konrad Lorenz Str. 20, Tulin, A‐3430, Austria;4. Research Institute of Animal Production, SK‐94992 Nitra, Slovakia Institute for Animal Breeding and Genetics , Veterinarmedizinische Universitat Wien , Linke Bahngasse 11, Wien, A‐1030, Austria;5. Institut für Tierzucht und Genetik;6. , VUW , Josef Baumann Gasse 1, Vienna, A‐1210, Austria Phone: +443‐1‐25077 5601 Fax: +443‐1‐25077 5601
Abstract:The ability to add or delete specific genes in swine will likely provide considerable benefits not just to agriculture but also to medicine, where pigs have potential as models for human disease and as organ donors. Here we have transferred nuclei from a genetically modified fibroblast cell line to porcine oocytes, matured in vitro under defined culture conditions, to create piglets expressing enhanced green fluorescent protein. The nuclear transfer-derived piglets were of normal size, although some mild symptoms of “large offspring syndrome” were evident. These experiments represent a next step towards creating swine with more useful genetic modifications.
Keywords:gene diagnosis  point mutation  restriction fragment length polymorphism (RFLP)  malignant hyperthermia (MH) syndrome
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