.delta.-sarcoglycan nucleic acid sequences

Details .delta.-sarcoglycan nucleic acid sequences .delta.-sarcoglycan nucleic acid sequences

1996-09-25

1998-11-17

Hutzell, Paula K.

Chemistry: molecular biology and microbiology

Animal cell, per se ; composition thereof; process of...

4352521, 4353201, 536 235, C12N 1512, C12N 1585, C12N 1563

Patent

active

058375376

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.

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