SOD1 Gene Polymorphism Detection for Canine Degenerative Myelopathy Diagnosis
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Solution Overview
Problem
Canine degenerative myelopathy, a progressive and fatal neurological disease in breeds such as German Shepherds and Welsh Corgis, lacks effective therapies and diagnostic tools, with genetic risk factors unknown, making it difficult for breeders to identify at-risk dogs and develop treatments.
Innovation Solution
Identification of a major genetic risk factor through genetic markers, specifically assessing the SOD1 gene for a polymorphism at amino acid residue 40, using methods like pyrosequencing or TaqMan allelic discrimination assays, to determine homozygous or heterozygous status for the E → K substitution, enabling breeders to select for reduced risk offspring and potentially using these dogs as models for human ALS research.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If genetic markers are used to identify at-risk dogs, then diagnostic accuracy is improved, but device complexity increases
Solution Approach 1:
The patent extracts and focuses on a specific genetic marker (SOD1 gene polymorphism at amino acid residue 40) from the complex genome to identify at-risk dogs. By isolating this single critical marker rather than analyzing the entire genome, the patent achieves high diagnostic accuracy while reducing the complexity of the testing system.
Solution Approach 2:
The patent uses DNA copying techniques to amplify the specific SOD1 gene region containing the polymorphism. This allows detection of the genetic marker through simple copy-making of the relevant DNA segment, enabling accurate diagnosis without requiring complex whole-genome analysis infrastructure.
2Reliability
If comprehensive genetic analysis is performed, then reliability of risk identification is improved, but loss of time increases
Solution Approach 1:
The patent extracts only the critical SOD1 gene polymorphism information needed for reliable risk identification, rather than performing comprehensive genetic analysis of all genes. This targeted approach maintains reliability by focusing on the known disease-associated marker while dramatically reducing the time required for testing.
Solution Approach 2:
The patent performs preliminary identification of the SOD1 polymorphism status in breeding dogs before mating decisions are made. This advance genetic testing allows breeders to make informed decisions about which dogs to breed, preventing the propagation of the disease allele while saving time compared to waiting for clinical disease manifestation.
3Ease of operation
If genetic testing is implemented, then ease of operation is improved, but device complexity increases
Solution Approach 1:
The patent extracts a single, easily detectable polymorphism (E→K substitution at residue 40 of SOD1) as the genetic marker for testing. This simplified marker can be detected using straightforward molecular biology techniques, making the testing operation easy to perform while avoiding the need for complex whole-genome sequencing equipment and expertise.
Data Source
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AI summary
The present invention provides for methods of identifying a dog carrying a major genetic risk factor in the SODl gene for degenerative myelopathy, a potential model for human amyeotrophic lateral sclerosis. Also provided a methods of early diagnosis, treatment and breeding based on the presence or absence of the marker.