SRBD1 Gene SNP Markers for Canine Glaucoma Diagnosis
Find Innovative SolutionsGenerate Solutions
Solution Overview
Problem
Current methods for diagnosing canine glaucoma are inefficient in early detection and are breed-specific, lacking reliable and wide-range applicability, often resulting in advanced disease presentation when symptoms are noticed.
Innovation Solution
Identification of two specific Single Nucleotide Polymorphisms (SNPs), rs9172407 and rs22115601, within the SRBD1 gene, which are used in an in vitro method to determine the risk of developing glaucoma across various dog breeds through genetic analysis of biological samples, utilizing primers and probes designed for PCR and hybridization techniques.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If traditional eye examination methods (tonometry, gonioscopy, ophthalmoscopy) are used for glaucoma diagnosis, then diagnosis can be made with established diagnostic procedures, but early detection is not achieved and disease is often diagnosed at advanced stages
Solution Approach 1:
The patent performs genetic testing for SRBD1 polymorphisms before clinical symptoms of glaucoma appear. By identifying dogs with glaucoma-risk genotypes (AA or AG) in the early stage through genetic analysis of biological samples, the method enables preventive monitoring and early intervention before the disease progresses to advanced stages where traditional examination methods become necessary.
2Adaptability or versatility
If breed-specific genetic testing is used for glaucoma diagnosis, then certain breeds can be diagnosed with targeted tests, but wide-range applicability across different dog breeds is limited
Solution Approach 1:
The patent identifies SRBD1 gene polymorphisms that serve as a universal diagnostic marker across multiple dog breeds predisposed to glaucoma. A single genetic test design can screen dogs from various breeds (Cocker Spaniels, Terriers, Northern breeds, Basset Hounds, Chow Chows, Shar Peis, Shih Tzus, Beagles, Poodles, and Dalmatians) for glaucoma risk, eliminating the need to develop separate breed-specific tests while maintaining high adaptability.
3Reliability
If genetic testing for multiple SNPs is performed to improve diagnostic accuracy, then diagnosis reliability increases, but test complexity and cost increase
Solution Approach 1:
The patent extracts and focuses on the most critical diagnostic information by identifying specific polymorphic sites in the SRBD1 gene that are strongly associated with glaucoma risk. Rather than testing multiple unrelated genetic markers, the method targets key polymorphic positions within SRBD1, simplifying the testing procedure while maintaining high diagnostic reliability through concentrated analysis of the most informative genetic variants.
Applied Scientific Principles
This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.
Function Achieved in This Case
The method allows for early and reliable glaucoma risk assessment in dogs, applicable across multiple breeds, enabling timely intervention and potentially reducing the incidence of glaucoma by identifying susceptible individuals before symptom onset.
Implementation Method 1
utilizing primers and probes designed for PCR and hybridization techniques
Implementation Method 2
utilizing primers and probes designed for PCR and hybridization techniques
Data Source
AI summary
The present invention describes the identification of two single nucleotide polymoiphisms (SNPs) within the SRBD1 gene, which are associated with canine glaucoma. The invention relates to these SNP markers and the use thereof for the diagnosis of glaucoma across and within dog breeds. The invention also relates to a method of diagnosing glaucoma in dogs or of identifying dogs at risk of developing glaucoma, which comprises detecting the identity, presence or absence of at least one of the described SNPs. Reagents and kits useful for carrying out the diagnosis method are also provided.