Multiplex Gene Mutation Detection Kit for Myeloproliferative Neoplasms

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Solution Overview

Problem

Current diagnostic methods for myeloproliferative neoplasms (MPN) face challenges in accurately evaluating multiple gene mutations, particularly in CALR and JAK2 genes, which are crucial for precise diagnosis and differentiation of MPN subtypes.

Innovation Solution

A kit comprising specific CALR and JAK2 mutation probes, including those with artificial deletions for precise mismatch detection, and primers for amplifying gene mutations, enabling simultaneous identification of multiple mutations in CALR, JAK2, and MPL genes, improving diagnostic accuracy.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If multiple separate diagnostic methods are used for different gene mutations, then comprehensive mutation detection is achieved, but diagnostic complexity and time consumption increase

Engineering Contradiction:

Improvemutation detection accuracyVSAvoiddiagnostic system complexity

Core Design Contradiction:

Measurement precisionVSDevice complexity

Solution Approach 1:

The patent combines multiple gene mutation detection capabilities (JAK2 V617F, JAK2 exon 12, CALR type 1, CALR type 2, MPL W515L, MPL W515K) into a single integrated diagnostic kit. The kit includes multiple probes with different fluorescence labels that can simultaneously detect various mutations in one reaction system, eliminating the need for separate diagnostic procedures for each mutation type.

Inventive Principle:

Principle #5Merging (Combining)

Solution Approach 2:

The diagnostic kit is designed with universal applicability to detect multiple myeloproliferative neoplasm-related mutations through a single system. The probes are configured to work together in one reaction mixture, allowing the kit to serve multiple diagnostic functions simultaneously - detecting JAK2, CALR, and MPL mutations in a unified platform.

Inventive Principle:

Principle #6Universality (Multi-functionality)

2Measurement precision

If multiple separate diagnostic methods are used for different gene mutations, then comprehensive mutation detection is achieved, but diagnostic time increases

Engineering Contradiction:

Improvemutation detection accuracyVSAvoiddiagnostic time

Core Design Contradiction:

Measurement precisionVSLoss of time

Solution Approach 1:

Inventive Principle:

Principle #5Merging (Combining)

Solution Approach 2:

The diagnostic kit enables continuous detection of multiple mutations in a single reaction process. All probe hybridization events occur simultaneously in one reaction mixture, allowing the diagnostic process to complete in a single step rather than requiring sequential testing for each mutation, thereby significantly reducing total diagnostic time.

Inventive Principle:

Principle #20Continuity of useful action

3Measurement precision

If probes with artificial deletions are used for mismatch detection, then detection precision is improved, but probe design complexity increases

Engineering Contradiction:

Improvemismatch detection precisionVSAvoidprobe design simplicity

Core Design Contradiction:

Measurement precisionVSEase of manufacture

Solution Approach 1:

The patent introduces artificial deletions at specific local positions within the probe sequences to create mismatch regions. These localized modifications are strategically placed to enhance discrimination between matched and mismatched target sequences. The deletions are confined to specific positions (e.g., deleting 1-3 nucleotides from the 3' end or introducing internal deletions) rather than modifying the entire probe, thus improving detection precision while maintaining manageable design complexity.

Inventive Principle:

Principle #3Local quality

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

Enhances the accuracy of MPN diagnosis by enabling precise detection of multiple gene mutations, improving the differentiation of MPN subtypes and enhancing diagnostic precision.

Implementation Method 1

a CALR mutation probe corresponding to the gene mutation related to myeloproliferative neoplasms in CALR... wherein the CALR mutation probe comprises a mismatch caused by artificial deletion

Methodology Applied

Scientific EffectHybridization:

Implementation Method 2

a set of primers for amplifying a region including the gene mutation... enabling simultaneous identification of multiple mutations

Methodology Applied

Scientific EffectPCR amplification:

Implementation Method 3

JAK2 mutation probes corresponding to the gene mutation related to myeloproliferative neoplasms in JAK2... MPL mutation probe corresponding to the gene mutation related to myeloproliferative neoplasms in MPL

Methodology Applied

Scientific EffectHybridization:

Data Source

PatentUS20220282314A1Kit for evaluating a gene mutation related to myeloproliferative neoplasms

Publication Date: 2022.09.08 TOYO KOHAN CO LTD

AI summary

This invention is intended to accurately determine the presence or absence of a plurality of types of gene mutations in CALR or JAK2 among gene mutations related to myeloproliferative neoplasms. A CALR mutation probe reacts with any of the type 1, type 3, type 4, or the type 5 mutation related to myeloproliferative neoplasms and has a mismatch resulting from artificial deletion. Probes for JAK2 mutation encompass a V617F mutation probe and an exon 12 mutation probe.