.delta.-sarcoglycan nucleic acid sequences

US5837537A · kind A · utility

Assignees

• Washington University · US
• University of Iowa Research Foundation · US

Inventors

• Kevin P. Campbell · Iowa City, US
• Daniel Yonil Jung · West Jordan, US
• Franck Duclos · Tours, FR
• Volker Straub · Iowa City, US
• John M. McPherson · Framingham, US

Key dates

• Filing date: Sep 25, 1996
• Grant date: Nov 17, 1998
• Expiry date: Sep 25, 2016

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C07K14/4707
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

Disclosed herein is a substantially pure nucleic acid sequence encoding a mammalian 35 kDa non-dystrophin component (.delta.-sarcoglycan) of the dystrophin-glycoprotein complex. Also disclosed are the amino acid sequence and an immunogenic peptide of .delta.-sarcoglycan. The peptide when used to immunize a mammal, stimulates the production of antibodies which bind specifically to the .delta.-sarcoglycan. Methods to identify mutations in the .delta.-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 .delta.-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.