Cyclophilin B SNP Detection for HERDA Carrier Identification
Find Innovative SolutionsGenerate Solutions
Solution Overview
Problem
There is a need for accurate methods to identify equines affected with or carrying hereditary equine regional dermal asthenia (HERDA), a genetic skin disorder predominantly found in American Quarter Horses, as current diagnostic methods are inadequate and often lead to unnecessary euthanasia.
Innovation Solution
Detection of a specific single nucleotide polymorphism (SNP) in the cyclophilin B (PPIB) gene, where a G to A substitution at position 115 is used as a marker to identify HERDA carriers and affected individuals through nucleic acid sequencing and amplification techniques.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If pedigree analysis and heritability analysis are used to identify HERDA carriers, then carrier frequency can be estimated, but diagnostic accuracy is insufficient leading to unnecessary euthanasia
Solution Approach 1:
The patent extracts the specific genetic marker (cyclophilin B gene SNP at position 115) from the complex pedigree analysis methodology. By focusing on a single nucleotide substitution (G to A) rather than analyzing entire pedigrees, the diagnostic method achieves high precision while simplifying the testing process. This extraction of the critical diagnostic element resolves the contradiction between accuracy and complexity.
Solution Approach 2:
The patent changes the diagnostic parameter from phenotypic observation and pedigree tracing to genotypic analysis at a specific nucleotide position. By detecting the presence or absence of the G to A substitution at position 115 in the cyclophilin B gene, the method transforms an imprecise phenotypic assessment into a precise molecular diagnostic, thereby improving measurement precision without increasing operational complexity.
2Measurement precision
If histological examination of HERDA tissue is performed, then subtle signs of thinned and shortened collagen fibers can be observed, but definitive diagnosis cannot be made
Solution Approach 1:
The patent replaces the mechanical histological examination process with a molecular genetic detection system. Instead of visually examining tissue sections for subtle collagen fiber changes, the method uses PCR amplification and sequencing to detect the specific G to A nucleotide substitution. This substitution of detection mechanisms transforms an ambiguous visual assessment into a definitive molecular diagnosis, resolving the contradiction between diagnostic certainty and detection difficulty.
3Reliability
If carrier frequency estimation through pedigree analysis is used, then inheritance patterns can be understood, but accurate identification of affected individuals is not achieved
Solution Approach 1:
The patent performs preliminary identification of the causal genetic mutation (G to A substitution at position 115) through genome-wide association studies and fine structure mapping. Once this critical marker is identified, subsequent carrier screening becomes a simple, rapid detection process rather than requiring time-consuming pedigree analysis. This preliminary identification of the diagnostic target enables rapid and reliable carrier screening, resolving the contradiction between reliability and time loss.
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
This method allows for precise identification of HERDA carriers and affected horses, preventing unnecessary euthanasia and minimizing the production of affected horses in breeding populations.
Implementation Method 1
The SNP is detected by contacting the amplified nucleic acids with EarI
Implementation Method 2
specifically amplifying a nucleic acid sequence comprising position 115 of a polynucleotide encoding PPIB, thereby amplifying nucleic acids comprising the SNP associated with HERDA
Data Source
AI summary
This invention provides compositions and methods for identification of carriers of Hereditary Equine Regional Dermal Asthenia (HERDA) in equine species. In particular, this invention identifies a single nucleotide polymorphorism (SNP) in cyclophlin B that can be used to identify carriers of HERDA and individuals affected by HERDA.