Genetic Test for Progressive Rod-Cone Degeneration in Dogs
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Solution Overview
Problem
Current methods for controlling progressive rod-cone degeneration (prcd) in dogs are ineffective due to the late onset of clinical symptoms and the difficulty in identifying carriers before they can breed, leading to the dissemination of the disease in breeding populations.
Innovation Solution
Identification and isolation of the F04 gene with a specific G to A mutation at position 1298, allowing for the development of a genetic test to determine if dogs are genetically normal, carriers, or affected with prcd, enabling selective breeding practices.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current diagnostic methods (ERG, ophthalmoscopy) are used to detect prcd, then diagnosis can be confirmed, but diagnosis occurs too late (3-8 years of age) to prevent disease dissemination in breeding populations
Solution Approach 1:
The patent applies preliminary action by developing a genetic test that detects the prcd mutation in DNA samples obtained from young dogs (as early as 6 weeks of age), allowing identification of affected individuals and carriers before they are bred. This advance detection prevents the time loss associated with waiting for clinical symptoms to manifest at 3-8 years of age.
2Measurement precision
If test matings are performed to identify carrier dogs, then carrier status can be determined, but the process is expensive, time-consuming, and impractical for reducing prcd frequency
Solution Approach 1:
The patent replaces the mechanical breeding-based test mating system with a molecular genetic testing system. Instead of performing actual matings and observing offspring (a complex, time-consuming mechanical process), the invention uses DNA analysis to directly detect the prcd mutation, dramatically improving productivity and efficiency in carrier detection.
3Ease of operation
If genetic testing for prcd is implemented, then early identification of affected and carrier dogs is enabled, but requires identification and characterization of the specific gene and mutation
Solution Approach 1:
The patent applies the extraction principle by isolating and characterizing the specific prcd gene and its G-to-A mutation at position 1298. By extracting and identifying this specific genetic target, the invention enables the development of targeted genetic tests that can detect prcd status through relatively simple DNA analysis, rather than requiring complex whole-genome analysis.
Data Source
AI summary
Tools and methods are provided for determining whether or not a dog is genetically normal, is a carrier of, or is affected with or predisposed to progressive rod-cone degeneration. The method is based on the detection of a transversion from G to A at position corresponding to nucleotide position 1298 of SEQ ID NO: 1.