Assay System for Mixed Sample Genetic Variation Detection
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Solution Overview
Problem
Current diagnostic methods require different techniques to detect genetic abnormalities such as chromosomal aneuploidy, germline mutations, and somatic mutations, and lack a non-invasive method for screening genetic variations in mixed samples containing normal and abnormal DNA.
Innovation Solution
A single assay system that utilizes amplification and detection of selected loci to identify copy number variations (CNVs) and single gene polymorphisms in mixed samples, allowing for the distinction between major and minor sources of DNA through the use of fixed sequence oligonucleotides and universal primer regions, enabling simultaneous detection of CNVs and polymorphisms in a single assay.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If different techniques are used to detect different classes of genetic mutations, then detection accuracy for specific abnormalities is improved, but device complexity and number of assays required increases
Solution Approach 1:
The patent combines multiple detection capabilities (CNV detection and polymorphism detection) into a single assay system. The method uses a unified approach where fixed sequence oligonucleotides and universal primer regions work together to simultaneously detect both copy number variations and single gene polymorphisms in mixed samples, eliminating the need for separate techniques for different mutation classes
Solution Approach 2:
The assay system employs universal primer regions that can bind to multiple different loci, allowing the same assay platform to detect various types of genetic abnormalities including CNVs and polymorphisms across different genes. This multi-functional design enables a single assay to replace multiple specialized tests
2Measurement precision
If conventional detection methods are used for genetic abnormalities, then specific disease identification is improved, but ease of operation and non-invasiveness deteriorates due to requirement of multiple techniques and invasive sampling
Solution Approach 1:
The patent merges multiple detection functions into one assay that can be performed on a single sample type (mixed DNA samples containing normal and abnormal DNA). This consolidation simplifies the operational workflow while maintaining the ability to identify specific diseases and genetic abnormalities
Solution Approach 2:
The method uses fixed sequence oligonucleotides as intermediaries that specifically bind to target loci in mixed samples, enabling the detection of abnormal DNA without requiring separation or purification steps. This intermediary approach allows direct analysis of mixed samples, reducing operational complexity
3Measurement precision
If multiple assays are performed to detect CNVs and polymorphisms separately, then detection specificity is improved, but productivity and time efficiency deteriorates
Solution Approach 1:
The patent performs both CNV detection and polymorphism detection in a single assay reaction, simultaneously analyzing multiple loci in mixed samples. This parallel detection approach maintains high specificity for each mutation type while dramatically improving throughput and reducing the time required compared to sequential testing
Solution Approach 2:
The assay system continuously detects multiple types of genetic variations in a single uninterrupted process. The fixed sequence oligonucleotides and universal primers work together in one continuous reaction to detect both CNVs and polymorphisms, eliminating the need for multiple separate testing steps
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
Enables the detection of genetic variations in mixed samples with high efficiency, allowing for the identification of CNVs and polymorphisms from both major and minor sources, facilitating early disease detection and treatment options.
Implementation Method 1
introducing a first set of fixed sequence oligonucleotides to a mixed sample under conditions that allow the fixed sequence oligonucleotides to specifically hybridize to complementary regions on one or more loci
Implementation Method 2
ligating the hybridized oligonucleotides to create contiguous ligation products complementary to the loci
Implementation Method 3
amplifying the ligation products to create amplification products
Data Source
AI summary
The present invention provides assay systems and methods for detection of copy number variation at one or more loci and polymorphism detection at one or more loci in a mixed sample from an individual.