Gene Mutation Detection Kit Using Specific Mutant Probes

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Solution Overview

Problem

Current methods lack an efficient means to detect gene mutations related to myeloproliferative neoplasms, hindering accurate diagnosis.

Innovation Solution

A kit comprising specific mutant probes for JAK2, CALR, and MPL gene mutations, along with wild-type probes and a microarray for simultaneous identification of these mutations, using oligonucleotides and primer sets for amplification and hybridization analysis.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If multiple separate detection methods are used for JAK2, CALR, and MPL gene mutations, then each mutation can be detected, but the diagnostic process becomes complex and time-consuming

Engineering Contradiction:

Improvemutation detection accuracyVSAvoiddetection system complexity

Core Design Contradiction:

Measurement precisionVSDevice complexity

Solution Approach 1:

The patent combines detection capabilities for JAK2, CALR, and MPL gene mutations into a single integrated kit containing all necessary probes and reagents. This merging approach allows simultaneous detection of multiple mutations without requiring separate detection systems, thereby reducing overall complexity while maintaining comprehensive mutation detection accuracy.

Inventive Principle:

Principle #5Merging (Combining)

Solution Approach 2:

The kit is designed as a universal detection system that can identify multiple types of gene mutations (JAK2 V617F, CALR type 1 and type 2, MPL W515L/K) using a unified approach. The multi-functional kit eliminates the need for separate specialized tests for each mutation type, streamlining the diagnostic workflow while preserving the ability to detect all relevant mutations.

Inventive Principle:

Principle #6Universality (Multi-functionality)

2Measurement precision

If comprehensive gene mutation analysis is performed, then diagnostic accuracy improves, but detection time and operational complexity increase

Engineering Contradiction:

Improvediagnostic accuracyVSAvoiddetection time

Core Design Contradiction:

Measurement precisionVSLoss of time

Solution Approach 1:

By merging all necessary detection components for JAK2, CALR, and MPL mutations into a single kit, the patent enables parallel processing of multiple mutation types. This approach allows comprehensive genetic analysis to be performed in a single operational workflow rather than through sequential separate tests, significantly reducing total detection time while maintaining complete diagnostic coverage.

Inventive Principle:

Principle #5Merging (Combining)

Solution Approach 2:

The kit prepares all necessary probes and reagents in advance for simultaneous detection of multiple mutations. This preliminary preparation allows the detection process to proceed efficiently without requiring sequential setup or multiple separate operations, thereby reducing the time loss associated with comprehensive mutation analysis.

Inventive Principle:

Principle #10Preliminary action

3Measurement precision

If separate probes are used for each mutation type, then specificity is maintained, but ease of operation decreases

Engineering Contradiction:

Improvemutation detection specificityVSAvoiddetection procedure simplicity

Core Design Contradiction:

Measurement precisionVSEase of operation

Solution Approach 1:

The patent merges multiple specific probes for different mutation types into a single integrated kit with clear instructions. This approach maintains the specificity of individual probes for their target mutations while simplifying the overall operation by providing all necessary components in one package, eliminating the need for operators to source and coordinate multiple separate probes.

Inventive Principle:

Principle #5Merging (Combining)

Solution Approach 2:

The kit serves as a universal solution that handles multiple mutation types through a unified procedure. While maintaining the specificity of individual probes, the multi-functional kit simplifies operation by providing a single standardized workflow that covers all detection needs, making the process easier to execute despite the comprehensive nature of the analysis.

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

Enhances diagnostic accuracy by enabling the simultaneous detection of JAK2, CALR, and MPL gene mutations, improving the diagnosis of myeloproliferative neoplasms.

Implementation Method 1

a mutant probe that specifically hybridizes with a gene mutation related to myeloproliferative neoplasms in JAK2, a mutant probe that specifically hybridizes with a gene mutation related to myeloproliferative neoplasms in CALR, and a mutant probe that specifically hybridizes with a gene mutation related to myeloproliferative neoplasms in MPL

Methodology Applied

Scientific EffectHybridization:

Data Source

PatentUS20200190595A1Kit for evaluating gene mutation related to myeloproliferative tumor

Publication Date: 2020.06.18 TOYO KOHAN CO LTD

AI summary

The present invention easily identifies a genotype for gene mutations related to myeloproliferative neoplasms. The present invention comprises a mutant probe that specifically hybridizes with a gene mutation related to myeloproliferative neoplasms in JAK2, a mutant probe that specifically hybridizes with a gene mutation related to myeloproliferative neoplasms in CALR, and a mutant probe that specifically hybridizes with a gene mutation related to myeloproliferative neoplasms in MPL.