Document Type

Patent

Patent Number

US Patent 6,211,340

Patent agency

United States Patent and Trademark Office

Publication Date

4-3-2001

Assignee

University of Iowa Research Foundation (Iowa City, IA, US) ; Washington University (St. Louis, MO)

Application Number

09/119,827

Date Filed

1998-07-21

Total Pages

15 pages

Abstract

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.

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URL

https://ir.uiowa.edu/patents/270