Simplified Polynucleotide Detection Using Circular Probe Constructs

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Solution Overview

Problem

Existing PCR-based methods for polynucleotide sequence detection face limitations such as false positives due to primer-primer interactions, limited multiplexing capability, difficulty in quantification, and sensitivity to genetic mutations, especially when targeting low-level analytes.

Innovation Solution

A method utilizing a single-stranded probe oligonucleotide with a 3' end complementary to the target sequence, a blocking oligonucleotide, a pyrophosphorolysing enzyme, and a ligase to create a partially digested strand and circular construct, followed by signal detection to infer the presence of the target sequence, enhancing specificity and sensitivity.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If PCR-based methods are used for polynucleotide sequence detection, then amplification of target DNA or RNA can be achieved, but false positive results occur due to unwanted amplification of other nucleic acid sequences

Engineering Contradiction:
Improvedetection accuracyVSAvoidfalse positive results
Core Design Contradiction:
ReliabilityVSObject-affected harmful factors

Solution Approach 1:

The probe is divided into multiple segments including a target-complementary region and a non-target region. The non-target region provides additional specificity by requiring binding to both target and non-target sequences, effectively segmenting the recognition process into multiple specific binding events rather than a single amplification step.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

A blocking oligonucleotide acts as an intermediary element that binds to non-target sequences and prevents unwanted amplification. This intermediary component specifically blocks primer binding to non-target sequences, thereby eliminating false positives without affecting target amplification.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Adaptability or versatility

If multiplexing of PCR-based methods is increased to detect more target sequences, then detection coverage is improved, but primer-primer interactions increase resulting in limited operational windows

Engineering Contradiction:
Improvemultiplexing capabilityVSAvoidprimer-primer interactions
Core Design Contradiction:
Adaptability or versatilityVSDevice complexity

Solution Approach 1:

The method extracts the amplification step from the detection specificity requirement. By using a probe-based approach where the probe itself serves as the amplification primer and contains the detection specificity elements, the system can multiplex more targets without increasing primer-primer interaction complexity.

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The probe oligonucleotide serves multiple functions: it acts as the amplification primer, contains the target-specific recognition element, and includes the non-target region for enhanced specificity. This multi-functionality reduces the number of separate components needed for multiplexing.

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

3Reliability

If PCR reaction cycles exponentially to amplify target, then detection sensitivity is improved, but quantification of target becomes difficult due to small variations in reaction efficiency

Engineering Contradiction:
Improvedetection sensitivityVSAvoidquantification accuracy
Core Design Contradiction:
ReliabilityVSMeasurement precision

Solution Approach 1:

The probe is pre-designed with a specific structure including a non-target region that extends beyond the amplification region. This preliminary structural configuration ensures that even with exponential amplification, the probe maintains its specificity and the amplification efficiency variations do not significantly impact quantification accuracy.

Inventive Principle:
Principle #10Preliminary action

4Measurement precision

If PCR primers are designed to target specific genetic variants, then detection specificity is improved, but mutations in the targeted region cause false negatives or false positives

Engineering Contradiction:
Improvevariant detection specificityVSAvoiddetection robustness to mutation
Core Design Contradiction:
Measurement precisionVSReliability

Solution Approach 1:

The probe is segmented into a target-complementary region and a non-target region. The non-target region provides a buffer zone that maintains probe stability even when mutations occur in the target region, segmenting the impact of mutations so they do not completely abolish binding.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The non-target region of the probe acts as a cushioning element that compensates for potential mutations in the target region. By extending the probe beyond the critical target sequence, the system is beforehand protected against mutation-induced binding failure.

Inventive Principle:
Principle #11Beforehand cushioning (Prior cushioning)

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 method provides fast, efficient, and specific detection of target polynucleotides, even at low concentrations, with improved multiplexing capability and reduced false positives, suitable for applications in cancer, infectious disease, and transplant organ rejection diagnostics.

Implementation Method 1

A 0 is pyrophosphorolysed in the 3'-5' direction from the 3' end to create at least a partially digested strand A 1

Methodology Applied
Scientific EffectPyrophosphorolysis:

Implementation Method 2

A 1 undergoes ligation using a splint to form A 2

Methodology Applied
Scientific EffectLigation:

Implementation Method 3

a blocking oligonucleotide complementary to a non-target polynucleotide sequence wherein the blocking oligonucleotide anneals to any non-target polynucleotide sequence present

Methodology Applied
Scientific EffectAnnealing: Annealing

Data Source

PatentEP4081659B1Simplified polynucleotide sequence detection method
Publication Date: 2025.10.08 BIOFIDELITY LTD
  • EP4081659B1 patent drawingFigure 1
  • EP4081659B1 patent drawingFigure 2
  • EP4081659B1 patent drawingFigure 3(A)~3(B)

AI summary

Provided herein are methods for improved polynucleotide detection.