Nanopore Mass Spectrometry Sequencing Single Molecules

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Solution Overview

Problem

Conventional DNA sequencing methods require multiple copies of the target sequence and are limited by the rate of chemical reactions and the cost of reagents, making them inefficient for high-speed and low-cost sequencing.

Innovation Solution

A method involving passing a polymer through a non-naturally occurring pore with a diameter of less than 1 micrometer, where the polymer is cleaved using a laser or electric field, and the fragments are analyzed using mass spectrometry to determine the sequence.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Productivity

If conventional DNA sequencing methods are used, then sequencing can be performed with existing technology, but multiple copies of the target sequence are required and the process is limited by chemical reaction rates and reagent costs

Engineering Contradiction:
Improvesequencing speedVSAvoidnumber of polymer copies required
Core Design Contradiction:
ProductivityVSQuantity of substance

Solution Approach 1:

The patent replaces conventional chemical sequencing methods with a physical approach using mass spectrometry. A single polymer molecule is passed through a nanopore and sequentially cleaved by controlled fragmentation, with each fragment detected by mass spectrometry to determine its identity. This physical measurement approach eliminates the need for multiple copies and chemical amplification reactions.

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

Solution Approach 2:

The patent changes the detection parameter from optical/chemical signals requiring multiple copies to mass-to-charge ratio measurements that can identify single molecules. By using mass spectrometry to measure the precise mass of sequentially released fragments, the system can determine the polymer sequence from a single molecule, fundamentally changing how sequencing information is extracted.

Inventive Principle:
Principle #35Parameter changes

2Productivity

If conventional sequencing methods are used, then chemical reactions can be performed, but the cost of reagents and labor is high

Engineering Contradiction:
Improvesequencing efficiencyVSAvoidcost of reagents
Core Design Contradiction:
ProductivityVSLoss of substance

Solution Approach 1:

The patent replaces costly chemical reagents and multiple reaction steps with a physical nanopore-based system. The nanopore provides a confined space where a single polymer molecule can be sequentially fragmented and detected, eliminating the need for expensive enzymes, dNTPs, and other chemical reagents required by conventional sequencing methods.

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

Solution Approach 2:

The nanopore system inherently provides the sequencing function through physical principles rather than requiring external chemical assistance. The confined pore structure naturally guides the polymer through sequential fragmentation, and the mass spectrometer automatically detects each fragment's mass, reducing the need for external reagents and manual intervention.

Inventive Principle:
Principle #25Self-service

3Quantity of substance

If single-molecule analysis is performed, then multiple copies are not needed, but the detection of single ions requires highly sensitive mass spectrometry

Engineering Contradiction:
Improvenumber of molecules analyzedVSAvoiddetection sensitivity
Core Design Contradiction:
Quantity of substanceVSMeasurement precision

Solution Approach 1:

The patent uses a nanopore with dimensions specifically optimized for single-molecule analysis. The pore's confined space creates a localized environment where a single polymer molecule can be held and sequentially fragmented, concentrating the signal from individual fragments. This local confinement enhances the detectability of single ions by the mass spectrometer.

Inventive Principle:
Principle #3Local quality

Solution Approach 2:

The nanopore acts as an intermediary structure that facilitates single-molecule analysis. It provides a confined environment that enhances the signal from single ions by preventing diffusion and concentrating fragments in a small detection volume, thereby improving the sensitivity required for detecting single molecules without requiring multiple copies.

Inventive Principle:
Principle #24Intermediary (Mediator)

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 approach enables fast and cost-effective sequencing of polymers like DNA by efficiently cleaving and analyzing single molecules, improving sequencing speed and reducing the need for multiple copies and costly reagents.

Implementation Method 1

cleaving the polymer in sequence to produce one or more fragments, wherein the polymer is cleaved using a laser or an electric field

Methodology Applied
Scientific EffectLaser ablation: Laser Ablation

Implementation Method 2

cleaving the polymer in sequence to produce one or more fragments, wherein the polymer is cleaved using a laser or an electric field

Methodology Applied
Scientific EffectElectric field: Electric Field

Implementation Method 3

a fragment is ionized to form a single ion

Methodology Applied
Scientific EffectIonization: Ionisation

Implementation Method 4

obtaining a mass spectrograph based on the signal, indicative of the single ion

Methodology Applied
Scientific EffectMass spectrometry:

Implementation Method 5

an electric field or a pressure difference urges the polymer through the pore

Methodology Applied
Scientific EffectElectric field: Electric Field

Implementation Method 6

an electric field or a pressure difference urges the polymer through the pore

Methodology Applied
Scientific EffectPressure difference: Pressure Gradient

Data Source

PatentEP2851433B1System and methods for determining molecules using mass spectrometry and related techniques
Publication Date: 2017.10.11 BROWN UNIVERSITY
  • EP2851433B1 patent drawingFigure 1
  • EP2851433B1 patent drawingFigure 2
  • EP2851433B1 patent drawingFigure 3

AI summary

The present invention generally relates to mass spectrometry and related techniques, and in some cases, to determining single species using mass spectrometry. In certain instances, polymers such as DNA or RNA can also be sequenced. Certain embodiments of the invention relate to passing a polymer, such as DNA, RNA, a protein, a polypeptide, a polysaccharide, etc., through a pore and cleaving the polymer in sequence. For instance, the polymer may be cleaved using a laser or an electric field. In some embodiments, a property of at least one subunit of a polymer is determined using mass spectrometry. In some embodiments, a single ion (which may be a subunit of a polymer, or an ion based on another species) can be isolated in a mass spectrometer and a signal generated from the single ion.