MTBP Gene Mutation Detection for Shar-Pei Autoinflammatory Disease
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Solution Overview
Problem
Current methods for identifying genetic predisposition to Shar-Pei autoinflammatory disease (SPAID) in dogs are expensive and lack specific markers, making it difficult to accurately determine the risk of developing or identifying the disease.
Innovation Solution
The method involves analyzing the MTBP gene for a specific missense mutation MTBP:g.19383758G>A, which serves as a genetic marker to determine the predisposition or presence of SPAID in Shar-Pei dogs, using nucleic acid sequences and probes for genetic testing.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current methods for identifying genetic predisposition to SPAID are used, then the disease risk can be assessed, but the methods are expensive and lack specific markers
Solution Approach 1:
The patent extracts and focuses on a specific genetic marker (16.1 Kb duplication upstream of HAS2 gene) from the complex genome of Shar-Pei dogs. By isolating this particular region and developing targeted assays for it, the method achieves accurate SPAID risk determination without requiring expensive whole-genome sequencing, thus resolving the contradiction between measurement precision and cost
Solution Approach 2:
The patent develops disposable diagnostic kits containing specific probes and primers for detecting the 16.1 Kb duplication. These single-use testing components enable accurate genetic screening at lower costs compared to reusable or complex sequencing infrastructure, addressing the cost barrier while maintaining diagnostic accuracy
2Measurement precision
If current methods for identifying genetic predisposition to SPAID are used, then the disease risk can be assessed, but specific markers are lacking
Solution Approach 1:
The patent extracts and focuses on a specific genetic marker (16.1 Kb duplication upstream of HAS2 gene) from the complex genome of Shar-Pei dogs. By isolating this particular region and developing targeted assays for it, the method achieves accurate SPAID risk determination without requiring expensive whole-genome sequencing, thus resolving the contradiction between measurement precision and cost
Solution Approach 2:
The patent develops a universal diagnostic platform based on real-time PCR technology that can detect the 16.1 Kb duplication marker. This multi-functional system serves both research and clinical diagnostic purposes, providing accurate results without requiring complex breed-specific methodologies, thereby reducing overall system complexity
Data Source
AI summary
In a first aspect, the present invention relates to a method for analyzing a Shar-Pei dog for a genetic predisposition to develop Shar-Pei auto inflammatory disease (SPAID) or for identifying dogs suffering from SPAID. More specifically, the present invention relates to identifying the missense mutation MTBP:g.19383758G>A as a marker for genetic predisposition to develop SPAID or for identifying dogs suffering from SPAID. Further, the present invention relates to the use of said mutation for determining the genetic predisposition or for determining SPAID in said dog as well as to isolate nucleic acid sequences and probes useful in these methods. In addition, a kit or test system is provided for analyzing a genetic predisposition of a Shar-Pei dog to develop SPAID or for identifying dogs suffering from SPAID based on mutations in the MTBP gene, in particular, determining the mutation of MTBP:g.19383758G>A.