Canine OSD Genetic Testing via PCR Mutation Analysis

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Solution Overview

Problem

Current methods for identifying canine oculo-skeletal dysplasia (OSD) carriers and affected dogs are inaccurate due to unreliable physical examinations and ophthalmoscopic tests, leading to ineffective selection pressure in breeding populations.

Innovation Solution

The method involves genetic testing for specific mutations, such as the drd1 COL9A3 and drd2 COL9A2 mutations, using PCR analysis and DNA sequencing to determine a dog's OSD status, distinguishing between normal, carrier, and affected individuals.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If physical examination and ophthalmoscopic tests are used to identify OSD carriers and affected dogs, then the method is simple and non-invasive, but the identification accuracy is low leading to unreliable results

Engineering Contradiction:
Improveidentification accuracyVSAvoidtesting method complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent replaces physical examination and ophthalmoscopic tests (mechanical/optical observation methods) with genetic testing methods that analyze DNA sequences. This substitution transitions from phenotype-based detection to genotype-based detection, significantly improving identification accuracy while accepting increased technical complexity through molecular biology techniques.

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

2Reliability

If genetic testing for OSD mutations is implemented, then identification accuracy improves significantly, but the cost and technical complexity increase

Engineering Contradiction:
Improvecarrier identification reliabilityVSAvoidtesting implementation ease
Core Design Contradiction:
ReliabilityVSEase of manufacture

Solution Approach 1:

The patent employs PCR-based amplification and sequencing methods that allow the testing system to automatically identify mutations without requiring extensive manual intervention. The genetic testing protocol is designed to be self-contained, with standardized procedures for DNA extraction, amplification, and analysis that reduce the need for expert manual assessment and improve ease of implementation.

Inventive Principle:
Principle #25Self-service

3Productivity

If only phenotypic examination is used, then the testing process is quick and inexpensive, but selection pressure in breeding populations remains ineffective

Engineering Contradiction:
Improvebreeding program efficiencyVSAvoidcarrier status information accuracy
Core Design Contradiction:
ProductivityVSLoss of information

Solution Approach 1:

The patent enables preliminary genetic testing of breeding stock before mating decisions are made. By identifying carriers and affected individuals through DNA analysis prior to breeding, the system provides accurate information that allows breeders to make informed decisions and apply effective selection pressure to reduce mutation frequency in the population.

Inventive Principle:
Principle #10Preliminary action

Data Source

PatentUS8119343B2Method for identifying oculoskeletal dysplasia in dogs
Publication Date: 2012.02.21 CORNELL UNIVERSITY
  • US8119343B2 patent drawing
  • US8119343B2 patent drawing
  • US8119343B2 patent drawing

AI summary

Provided are methods for identifying dogs as likely to be genetically normal, carriers of, or affected with Oculo-skeletal dysplasia (OSD) by determining the presence or absence of a drd2 COL9A2 mutation and/or a drd1 COL9A3 mutation. Also provided is a method for selective breeding of dogs and kits useful for carrying out the methods of the invention.