PCR Ratio Diagnostic System for Avellino Corneal Dystrophy
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Solution Overview
Problem
Current diagnostic methods for Avellino corneal dystrophy are inaccurate and prone to missed latent symptoms, leading to vision loss in patients undergoing LASIK surgery, due to reliance on microscopic observation and variability in doctor skill.
Innovation Solution
A system utilizing PCR amplification values to determine the presence of Avellino corneal dystrophy by comparing the ratio of amplification values from primers and probes targeting the TGFBI gene, specifically identifying normal, heterozygote, and homozygote samples based on specific amplification value ratios.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Ease of operation
If microscopic observation of corneal opacity is used for diagnosis, then the diagnostic method is simple and accessible, but the diagnosis accuracy is low and latent symptoms are often missed
Solution Approach 1:
The patent replaces the mechanical/optical microscopic observation system with a molecular biology-based PCR amplification system. By using polymerase chain reaction to amplify specific DNA sequences from the TGFBI gene, the system achieves high-sensitivity detection of genetic mutations causing Avellino corneal dystrophy, eliminating the subjectivity and low accuracy of microscopic observation while maintaining operational feasibility through standardized laboratory protocols
Solution Approach 2:
The patent introduces PCR amplification as an intermediary step between sample collection and diagnosis. The PCR process uses primers and probes as mediators to specifically bind and amplify target DNA sequences, enabling indirect but highly accurate detection of the genetic basis of corneal dystrophy. This intermediary molecular amplification step bridges the gap between simple sample acquisition and precise diagnostic conclusion
2Loss of time
If conventional diagnostic methods are used, then the diagnostic process is quick, but the reliability varies depending on doctor skill and patient condition
Solution Approach 1:
The patent implements a self-service diagnostic system where the PCR assay automatically performs detection without requiring subjective interpretation by doctors. The system uses automated thermal cycling, fluorescent detection, and computerized analysis of amplification curves to generate diagnostic results. This automation eliminates variability from doctor skill and patient condition, providing consistent and reliable diagnoses while maintaining efficiency through high-throughput processing capability
3Productivity
If LASIK surgery is performed without accurate genetic diagnosis, then vision enhancement can be achieved, but the risk of vision loss increases due to undetected Avellino corneal dystrophy
Solution Approach 1:
The patent applies preliminary genetic diagnosis through PCR amplification before LASIK surgery is performed. By detecting the presence of Avellino corneal dystrophy mutations in advance using specific primers and probes targeting the TGFBI gene, the system enables pre-surgical screening that identifies high-risk patients. This preliminary detection action prevents subsequent vision loss by allowing doctors to avoid LASIK in susceptible individuals, thereby eliminating the harmful effect while preserving the benefit of vision enhancement for suitable candidates
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 system provides a more accurate and reliable diagnosis of Avellino corneal dystrophy, reducing the risk of vision loss by systematically determining the genetic status of patients before vision-enhancement surgeries.
Implementation Method 1
a first PCR amplification value measured by adding to a sample DNA a primer pair capable of amplifying exon 4 of a transforming growth factor b-induced (TGFBI) gene
Data Source
AI summary
The present invention relates to a system for diagnosing Avellino corneal dystrophy, and more particularly to a system for diagnosing Avellino corneal dystrophy, in which whether a sample is normal or Avellino corneal dystrophy is determined based on the ratio of the input first PCR amplification value and the second PCR amplification value. The system makes it possible to diagnosis Avellino corneal dystrophy in a simpler and accurate manner without being influenced by the doctor's skill. Particularly, the inventive system makes the overall process systematic, and thus provides accurate diagnosis. In addition, the system can also easily administer a number of test subjects.