Karyotyping via Stable Locus Amplification
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Solution Overview
Problem
Current methods for karyotyping are inaccurate and labor-intensive due to the presence of copy number variable regions (CNVRs), which can lead to incorrect chromosome number and type determinations, and do not allow for simultaneous interrogation of multiple chromosomes without multiple reporting labels.
Innovation Solution
The methods involve amplifying nucleic acid sequences outside of CNVRs to determine the copy number of chromosomes, using real-time polymerase chain reaction (PCR) and virtual reference assays or calibrator samples to provide accurate and rapid karyotyping without the need for multiple labels, allowing for simultaneous interrogation of multiple chromosomes.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current methods are used to determine karyotype, then chromosome analysis can be performed, but accuracy is reduced due to copy number variable regions (CNVRs)
Solution Approach 1:
The method extracts and analyzes only specific chromosomal regions that are known to be outside of copy number variable regions (CNVRs). By selectively targeting these stable regions for amplification and analysis, the method eliminates the harmful effect of CNVRs on karyotype determination accuracy while maintaining the ability to assess chromosome copy number and structure.
2Adaptability or versatility
If multiple reporting labels are used to interrogate multiple chromosomes, then simultaneous analysis is possible, but device complexity and cost increase
Solution Approach 1:
The method employs a universal approach where a single reporting label is used to interrogate multiple different chromosomes by targeting specific regions outside CNVRs on each chromosome. This multi-functional strategy allows simultaneous analysis of multiple chromosomes without requiring multiple distinct reporting labels, thereby reducing device complexity and cost while maintaining versatility.
3Productivity
If traditional karyotyping methods are used, then chromosome analysis can be performed, but labor intensity increases and productivity decreases
Solution Approach 1:
The method replaces traditional mechanical and manual karyotyping procedures with a molecular biology-based amplification and detection system. By using PCR amplification of specific chromosomal regions followed by detection with reporting labels, the method automates and streamlines the analysis process, significantly reducing labor intensity and increasing productivity compared to conventional microscopy-based karyotyping.
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, accurate, and reliable karyotyping by focusing on regions outside CNVRs, reducing errors and increasing efficiency in determining chromosome copy numbers and types, and allows for simultaneous analysis of multiple chromosomes with a single or multiple reporting labels.
Implementation Method 1
by amplifying a nucleic acid sequence corresponding to the test locus to produce an amplification product, or amplicon
Data Source
AI summary
This disclosure relates to methods and kits for karyotyping in which chromosomes are interrogated by amplifying loci that are not within copy number variable regions thereof.