Peer-reviewed veterinary case report
Testing Golden Retrievers for muscular dystrophy gene with snapback
By Honeyman, K et al.·Published in American journal of veterinary research·1999·Department of Pathology, Australia·View original on PubMed →
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Original publication title: Development of a snapback method of single-strand conformation polymorphism analysis for genotyping Golden Retrievers for the X-linked muscular dystrophy allele.
- Species:
- dog
Plain-English summary
A group of 20 Golden Retriever puppies was tested for a genetic mutation that causes X-linked muscular dystrophy, a condition that can lead to muscle weakness. Researchers developed a new testing method called snapback SSCP analysis, which accurately identified whether the puppies were affected, carriers, or unaffected by the mutation. This method proved to be more reliable than traditional testing techniques. The findings suggest that snapback SSCP analysis is a quick and effective way to determine the genetic status of Golden Retrievers for this specific muscular dystrophy mutation.
People also search for: Golden Retriever muscular dystrophy test · puppy genetic testing for muscular dystrophy · X-linked muscular dystrophy in dogs
Abstract
OBJECTIVE: To develop a snapback method of single-strand conformation polymorphism (SSCP) analysis for genotyping Golden Retrievers for the X-linked muscular dystrophy allele. ANIMALS: 20 Golden Retriever puppies from a colony with X-linked muscular dystrophy. PROCEDURE: DNA spanning the canine dystrophin mutation was amplified by means of a polymerase chain reaction (PCR), using a primer modified to have an additional sequence at the 5' terminus. The primer was designed so that 1 terminus of the single-stranded PCR product could anneal to the normal sequence flanking the region of the mutation in the allele but not in the mutant allele. True disease status of the dogs was determined by means of a PCR and restriction digest protocol. RESULTS: Snapback SSCP analysis allowed for accurate and unambiguous genotyping of unaffected, carrier, and affected dogs, whereas conventional SSCP analysis, using the unmodified primer, did not. Creatine kinase activities measured within 24 hours after birth were not consistent with genotype. CONCLUSION AND CLINICAL RELEVANCE: Snapback SSCP analysis provided a simple, fast, and accurate method for genotyping Golden Retrievers for the mutation known to cause X-linked muscular dystrophy.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/10376903/