US Patent 5,837,537
United States Patent and Trademark Office
Washington University (St. Louis, MO) ; University of Iowa Research Foundation (Iowa City, IA, US)
Disclosed herein is a substantially pure nucleic acid sequence encoding a mammalian 35 kDa non-dystrophin component (δ-sarcoglycan) of the dystrophin-glycoprotein complex. Also disclosed are the amino acid sequence and an immunogenic peptide of δ-sarcoglycan. The peptide when used to immunize a mammal, stimulates the production of antibodies which bind specifically to the δ-sarcoglycan. Methods to identify mutations in the δ-sarcoglycan gene associated with autosomal recessive limb-girdle muscular dystrophy are also disclosed. The identification of such mutations enables the design of nucleic acid probes which hybridize specifically to a mutant form of δ-sarcoglycan, or the complement thereof, but not to the DNA of the wild-type form of the gene (or the complement thereof), under stringent hybridization conditions. Such probes are useful, for example, in connection with the diagnosis of autosomal recessive limb-girdle muscular dystrophy. In addition, the identification of such mutations enables the diagnosis of autosomal recessive limb-girdle muscular dystrophy through the use of direct DNA sequencing techniques.
Campbell, Kevin P.; Jung, Daniel; Duclos, Franck; Straub, Volker; and Mcpherson, John δ-sarcoglycan nucleic acid sequences. US Patent 5,837,537 filed September 25, 1996 and issued November 17, 1998. https://ir.uiowa.edu/patents/197