Peptide Nucleic Acid Probe Multiplex Detection
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Solution Overview
Problem
There is a lack of commercialized in vitro diagnostic tests for multiplex detection of BCR/ABL negative myeloproliferative neoplasm-associated gene mutations, and existing clinical trial data are insufficient, necessitating the development of a screening test that incorporates multiplex detection molecular genetic technology for clinical practice.
Innovation Solution
A peptide nucleic acid probe designed to complementarily bind to BCR/ABL negative myeloproliferative neoplasm-associated genes, including JAK2, MPL, and CALR, to enable multiplex detection of specific gene mutations such as JAK2 V617F, MPL W515L/K, and CALR L367fs*46/K385fs*47, using a composition and kit that minimizes interference between probes for precise detection.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Adaptability or versatility
If multiple probes are used for multiplex detection of gene mutations, then detection capability is improved, but interference between probes increases and detection precision deteriorates
Solution Approach 1:
The patent applies local quality by designing each PNA probe with specific structural characteristics - using peptide backbone instead of sugar-phosphate, and optimizing the probe length (8-20 nucleotides) and composition to minimize interference while maintaining high binding specificity to target mutation sites in JAK2, MPL, and CALR genes
Solution Approach 2:
The patent changes key parameters of the probe system by using peptide nucleic acid (PNA) chemistry with neutral charge, adjusting probe length to 8-20 nucleotides, and optimizing hybridization conditions to achieve multiplex detection without probe interference, thereby improving both versatility and precision
2Productivity
If conventional detection methods are used, then simplicity is maintained, but detection sensitivity and productivity are insufficient
Solution Approach 1:
The patent replaces conventional mechanical/chemical detection systems with PNA-based molecular recognition system that utilizes complementary base pairing and melting temperature analysis, enabling rapid multiplex detection of multiple gene mutations simultaneously with high sensitivity and specificity
Solution Approach 2:
The patent creates a universal PNA probe system that can detect multiple different gene mutations (JAK2 V617F, MPL W515L/K, CALR L367fs*46/K385fs*47) using the same basic platform and methodology, thereby improving productivity through multiplexing while maintaining high detection sensitivity
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 peptide nucleic acid probe enables rapid and accurate multiplex detection of BCR/ABL negative myeloproliferative neoplasm-associated gene mutations, facilitating disease diagnosis, follow-up, prognosis estimation, and treatment by minimizing interference and enhancing detection sensitivity and specificity.
Implementation Method 1
A peptide nucleic acid probe designed to complementarily bind to BCR/ABL negative myeloproliferative neoplasm-associated genes
Data Source
AI summary
The present invention provides a peptide nucleic acid probe including any one or more selected from the group consisting of nucleic acid sequences represented by SEQ ID NOs: 7-10 and nucleic acid sequences complementary to the nucleic acid sequences, and manufactured so as to complementarily bind to a BCR/ABL negative myeloproliferative neoplasm-associated gene, thereby enabling multiplex detection of gene mutations; a composition for multiplex detection of gene mutations comprising the same; a kit; and a method for multiplex detection of BCR/ABL negative myeloproliferative neoplasm-associated gene mutations using the same. Therefore, since multiplex detection of BCR/ABL negative myeloproliferative neoplasm-associated gene mutations can be rapidly and accurately carried out by one detection process, BCR/ABL negative myeloproliferative neoplasm is effectively diagnosed, and thus the present invention can be useful for diagnosis, follow-up, prognosis estimation, and treatment of diseases.


