PTOCE Assay for Nucleotide Variation Detection

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Solution Overview

Problem

Conventional DNA hybridization-based methods for detecting nucleotide variations are prone to false positives due to non-specific hybridization and require multiple fluorescent labels, limiting their reliability and efficiency in multiplex target detection.

Innovation Solution

The PTOCE (Probing and Tagging Oligonucleotide Cleavage and Extension) assay, which involves hybridizing a target nucleic acid sequence with a PTO and CTO, using enzymatic cleavage and extension reactions to detect nucleotide variations, allowing for adjustable cleavage sites and label-independent detection of multiple targets in both liquid and solid phases.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Ease of manufacture

If conventional DNA hybridization-based methods are used for detection, then the detection process is simple, but false positive results occur due to non-specific hybridization

Engineering Contradiction:
Improvedetection process simplicityVSAvoiddetection accuracy
Core Design Contradiction:
Ease of manufactureVSReliability

Solution Approach 1:

The probe is divided into multiple functional segments: a 5' non-complementary region, a 3' complementary region, and an internal cleavage site. This segmentation allows the probe to undergo specific cleavage only when bound to the target, enabling discrimination between specific and non-specific hybridization events.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

A cleavage enzyme serves as an intermediary that mediates between probe hybridization and signal generation. The enzyme specifically cleaves the probe at the internal site only when the probe is correctly hybridized to the target, providing an additional specificity layer that eliminates false positives from non-specific hybridization.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Adaptability or versatility

If multiple fluorescent labels are used for multiplex detection, then multiple targets can be detected simultaneously, but the complexity and cost increase

Engineering Contradiction:
Improvemultiplex detection capabilityVSAvoidlabel complexity
Core Design Contradiction:
Adaptability or versatilityVSDevice complexity

Solution Approach 1:

The invention uses universal unlabeled probes combined with a universal cleavage enzyme that can detect multiple different targets. The specificity is achieved through the hybridization complementarity rather than fluorescent labels, allowing one probe design to work across multiple targets without requiring different labeled probes for each target.

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

Solution Approach 2:

The invention replaces the optical detection system (multiple fluorescent labels and filters) with a biochemical system (cleavage enzyme activity). Instead of detecting multiple fluorescent signals, the system uses a single cleavage reaction that can be detected by various methods, simplifying the detection apparatus while maintaining multiplex capability.

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

3Measurement precision

If TaqMan probe method is used, then signal generation is enhanced, but the requirement for upstream primer-dependent polymerase limits applicability

Engineering Contradiction:
Improvesignal generationVSAvoidmethod applicability
Core Design Contradiction:
Measurement precisionVSAdaptability or versatility

Solution Approach 1:

The invention extracts and utilizes the 5' to 3' exonuclease activity of DNA polymerase independently from the primer extension function. By designing the probe with a 5' non-complementary region and internal cleavage site, the probe can be cleaved by the exonuclease activity without requiring upstream primer extension, thereby separating these two functions and broadening method applicability.

Inventive Principle:
Principle #2Taking out (Extraction)

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 enhances the accuracy and convenience of nucleotide variation detection, enabling reliable and reproducible multiplex analysis without the need for multiple fluorescent labels, and allows for adjustable Tm values to discriminate between target and non-target signals.

Implementation Method 1

DNA hybridization is a fundamental process in molecular biology and is affected by ionic strength, base composition, length of fragment to which the nucleic acid has been reduced, the degree of mismatching, and the presence of denaturing agents.

Methodology Applied
Scientific EffectDNA hybridization:

Implementation Method 2

contacting the resultant of step (a) to an enzyme having a 5' nuclease activity under conditions for cleavage of the PTO; wherein the upstream oligonucleotide or its extended strand induces cleavage of the PTO by the enzyme having the 5' nuclease activity

Methodology Applied
Scientific EffectEnzymatic cleavage: Enzyme

Implementation Method 3

performing an extension reaction using the resultant of step (c) and a template-dependent nucleic acid polymerase; wherein the fragment hybridized with the capturing portion of the CTO is extended

Methodology Applied
Scientific EffectNucleic acid polymerization:

Data Source

PatentEP2823061B1Detection of nucleotide variation on target nucleic acid sequence by PTO cleavage and extension assay
Publication Date: 2018.02.14 SEEGENE INC
  • EP2823061B1 patent drawingFigure 1A~1B
  • EP2823061B1 patent drawingFigure 2A~2E
  • EP2823061B1 patent drawingFigure 3A~3E

AI summary

The present invention is generally drawn to a novel method and a kit for detecting nucleotide variations by a PTOCE (PTO Cleavage and Extension) assay with PTO-NV. Furthermore, the present invention is directed to a novel method and a kit for detecting a nucleotide variation on a target nucleic acid sequence by a PTOCE assay with PTO-NV having a non-base paring moiety.