Canine FGA Gene SNP Marker for Afibrinogenemia Diagnosis
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Solution Overview
Problem
Current genetic testing methods in dog breeding fail to effectively identify autosomal recessive mutations causing bleeding disorders like afibrinogenemia, which can lead to severe bleeding issues due to the inability to phenotypically detect genetic carriers without genetic testing.
Innovation Solution
A novel single nucleotide polymorphism (SNP) in the fibrinogen alpha chain (FGA) gene on canine chromosome 15, specifically the deletion mutation NC_006597.3:g.52240694delA, is identified and used to develop methods for assessing the risk and diagnosing afibrinogenemia in dogs, allowing for the selection of unaffected breeding stock and prevention of mating between affected individuals.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If genetic testing is performed to identify autosomal recessive mutations, then the ability to detect genetic carriers is improved, but the complexity and cost of breeding programs increases
Solution Approach 1:
The patent extracts the specific genetic marker (SNP at position 6296 in the FGA gene) from the complex genomic sequence to create a targeted diagnostic tool. By focusing on this single nucleotide deletion rather than performing whole-genome sequencing, the method achieves high detection precision for afibrinogenemia carriers while minimizing program complexity and cost.
Solution Approach 2:
The patent creates a simplified copy or representation of the genetic defect through a specific SNP marker that can be easily detected. Instead of analyzing the entire fibrinogen gene or performing complex phenotypic tests, breeders can use this single nucleotide marker as a surrogate indicator to identify carriers and affected individuals.
2Productivity
If intensive selection for desirable traits is performed, then breeding efficiency is improved, but the accumulation of genetic defects increases
Solution Approach 1:
The patent enables preliminary identification of genetic defects through SNP testing before breeding decisions are made. By detecting the afibrinogenemia mutation in advance, breeders can prevent mating between carriers or affected individuals, thereby eliminating harmful genetic defects from the population while maintaining efficient selective breeding for desirable traits.
Solution Approach 2:
The patent establishes a feedback mechanism where genetic testing results inform breeding decisions. The SNP test provides information about the genetic status of breeding stock, which feeds back into mate selection to avoid propagating harmful recessive mutations, thus creating a closed-loop system that simultaneously achieves breeding efficiency and genetic health.
Data Source
Figure 1
AI summary
The present disclosure relates to a novel single nucleotide polymorphism associated with afibrinogenemia in dogs. The SNP is located in the fibrinogen alpha chain (FGA) gene on canine chromosome 15. The present disclosure provides methods and compositions based on the novel genetic polymorphism, as well as corresponding oligonucleotide probes and kits for use in the methods provided.