Fluorescent Oligonucleotide Probe for EGFR Polymorphism Detection

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Solution Overview

Problem

Current methods for detecting EGFR exon 19 polymorphisms, such as PCR-RFLP and melting curve analysis, are labor-intensive and prone to contamination, making them inefficient for automated detection and requiring significant effort for analyzing multiple genetic polymorphisms.

Innovation Solution

A probe system comprising fluorescence-labeled oligonucleotides with specific sequences (SEQ ID NOs: 5, 4, and 6) is used for detecting EGFR exon 19 polymorphisms, allowing for simple and reliable determination of one-base differences, even in samples with both wild-type and mutant variants, using Tm analysis.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If PCR-RFLP method is used for polymorphism detection, then detection accuracy is achieved, but labor intensity increases and contamination risk occurs

Engineering Contradiction:
Improvepolymorphism detection accuracyVSAvoidlabor intensity
Core Design Contradiction:
Measurement precisionVSEase of operation

Solution Approach 1:

The patent replaces the mechanical/manual PCR-RFLP method with an automated fluorescent probe-based detection system. The probe hybridizes specifically to target sequences and generates fluorescent signals that can be automatically read by instrumentation, eliminating manual intervention steps while maintaining detection accuracy.

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

Solution Approach 2:

The patent introduces a fluorescent probe as an intermediary molecule that bridges the target DNA sequence and the detection system. The probe contains a fluorophore and quencher that generate detectable signals upon hybridization, serving as a mediator that enables automated detection without direct manual manipulation of the DNA samples.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Measurement precision

If PCR-RFLP method is used for polymorphism detection, then detection accuracy is achieved, but automation difficulty increases

Engineering Contradiction:
Improvepolymorphism detection accuracyVSAvoidautomation capability
Core Design Contradiction:
Measurement precisionVSExtent of automation

Solution Approach 1:

The patent replaces manual operations with an automated fluorescent detection system where probes hybridize to target sequences and generate fluorescent signals that can be automatically quantified and analyzed by instrumentation, enabling full automation of the detection process while preserving accuracy.

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

Solution Approach 2:

The fluorescent probe performs self-detection by automatically hybridizing to complementary target sequences and generating fluorescent signals without requiring manual intervention. The system is self-contained and can be automated, with the probe itself serving as both the reagent and the detection element.

Inventive Principle:
Principle #25Self-service

3Difficulty of detecting and measuring

If melting curve analysis is used for polymorphism detection, then detection capability is achieved, but contamination risk increases

Engineering Contradiction:
Improvepolymorphism detection capabilityVSAvoidcontamination risk
Core Design Contradiction:
Difficulty of detecting and measuringVSObject-affected harmful factors

Solution Approach 1:

The patent uses a fluorescent probe as an intermediary that specifically binds to the target sequence and generates signals only from the intended target, preventing contamination from other DNA sources. The probe's specific hybridization ensures that only complementary sequences produce signals, eliminating false positives from contamination.

Inventive Principle:
Principle #24Intermediary (Mediator)

Solution Approach 2:

The patent replaces the open melting curve analysis system with a closed fluorescent probe-based system where signals are generated within the reaction mixture itself, eliminating the need for post-PCR handling and reducing contamination risk from external sources.

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

4Adaptability or versatility

If multiple polymorphisms are analyzed using conventional methods, then comprehensive detection is achieved, but time consumption increases

Engineering Contradiction:
Improvepolymorphism detection coverageVSAvoidanalysis time
Core Design Contradiction:
Adaptability or versatilityVSLoss of time

Solution Approach 1:

The patent combines multiple polymorphism detection capabilities into a single fluorescent probe assay. Multiple probes can be used simultaneously in one reaction mixture, each detecting different polymorphisms, thereby consolidating multiple detection steps into one unified process that reduces time while maintaining comprehensive coverage.

Inventive Principle:
Principle #5Merging (Combining)

Solution Approach 2:

The fluorescent probe system provides universal detection capability that can identify multiple different polymorphisms using the same basic assay platform. By designing probes with different fluorescent labels or using a single probe that detects multiple variants, the system achieves multi-functionality without requiring separate assays for each polymorphism.

Inventive Principle:
Principle #6Universality (Multi-functionality)

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 probe system enables efficient and reliable detection of EGFR exon 19 polymorphisms, facilitating the selection of appropriate cancer treatments by determining the efficacy or resistance to EGFR-TKI therapies, and can be applied in both medical and biochemical contexts.

Implementation Method 1

a hybrid (double-stranded DNA) is formed from target single-stranded DNA from a detection sample and a probe that is complementary to the sequence of interest including the gene polymorphism that is the target of detection

Methodology Applied
Scientific EffectHybridization:

Implementation Method 2

The dissociation (melting) of the hybrid resulting from the temperature increase is detected by signal measurement using absorbance or the like to thereby determine the presence or absence of a target polymorphism by determining a Tm value

Methodology Applied
Scientific EffectMelting (Tm analysis): Melting

Implementation Method 3

the cytosine at the 5' terminus is fluorescence-labeled

Methodology Applied
Scientific EffectFluorescence: Fluorescence

Data Source

PatentEP3219814B1Probe for detection of polymorphism in EGFR gene, amplification primer, and use thereof
Publication Date: 2023.02.15 ARKRAY INC
  • EP3219814B1 patent drawingFigure 1(A)~3(D)
  • EP3219814B1 patent drawingFigure 4(A)~6(C)
  • EP3219814B1 patent drawingFigure 7(A)~8(D)

AI summary

A polymorphism-detecting probe, an amplification primer and the use thereof are provided to enable simple and highly reliable determination of different polymorphisms in an EGFR gene. A fluorescence-labeled oligonucleotide selected from at least one of P5 - P7 below is used as the polymorphism-detecting probe. (P5) An oligonucleotide comprising or consisting of a sequence having homology with a nucleotide sequence having a length of 9 - 50 bases comprising base positions 104 - 112 of the base sequence of SEQ ID NO: 2, and in which the base that is homologous to base number 112 is thymine, the base that is homologous to base number 104 is cytosine, and the cytosine is fluorescence-labeled; (P6) An oligonucleotide comprising or consisting of a sequence having homology with a nucleotide sequence having a length of 16 - 50 bases comprising base positions 104 - 119 of the base sequence of SEQ ID NO: 2, and in which the base at position 119 is substituted by a base other than guanine, and in which the base that is homologous to base number 104 is cytosine, and the cytosine is fluorescence-labeled; and (P7) An oligonucleotide comprising or consisting of a sequence having homology with a nucleotide sequence having a length of 10 - 50 bases comprising base positions 136 - 145 of the base sequence of SEQ ID NO: 3, and in which the base that is homologous to base number 145 is cytosine, and the cytosine is fluorescence-labeled.