Hair Root Sample Genetic Determination Method
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Solution Overview
Problem
Current methods for genetic determination using biological samples, such as blood, face challenges including incomplete detection of post-transcriptional phenomena, tissue-specific expression patterns, and invasive sample collection procedures.
Innovation Solution
A method involving the use of a hair root sample for genetic determination, which includes isolating nucleic acid, determining the nucleotide sequence, comparing it to a reference sequence, and making a genetic determination based on the comparison.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If blood samples are used for genetic determination, then nucleic acid can be obtained for analysis, but the quality of DNA and RNA rapidly decreases requiring stabilizing systems and the samples have very high levels of globin mRNA which reduces sequencing yield
Solution Approach 1:
The patent extracts the problematic components (globin mRNA and rapid degradation) from the blood sample system by replacing blood samples entirely with hair root samples, which naturally lack these problems and provide stable nucleic acid without globin interference
Solution Approach 2:
The patent uses hair root samples as a surrogate copy of blood for genetic analysis purposes, obtaining the same diagnostic information without the harmful characteristics of blood samples (globin mRNA, rapid degradation)
2Measurement precision
If RNA is used for gene expression analysis, then post-transcriptional phenomena can be detected, but the expression pattern depends on tissue type and cells express only limited genes required for their functions
Solution Approach 1:
The patent makes the hair root sample a universal source that can provide both RNA for post-transcriptional analysis and DNA for genomic analysis, and can represent multiple tissue types through the individual's genetic profile, unlike blood which is limited to blood-specific gene expression
3Quantity of substance
If invasive procedures like venipuncture or surgical biopsies are used to obtain tissue samples, then sufficient biological material can be obtained for gene expression analysis, but risks to subjects include trauma, hematomas, infection, and death
Solution Approach 1:
The patent uses hair roots, which are readily available, non-critical disposable samples that can be easily obtained without invasive procedures, replacing the need for valuable and risky blood or tissue samples
Solution Approach 2:
The patent uses hair roots as an intermediary sample type that provides indirect access to the individual's genetic and gene expression profile without requiring direct sampling from critical tissues like blood or organs
4Measurement precision
If microarray analysis is used on RNA from hair follicles, then RNA quantification can be performed, but analytical examination of nucleic acid for detection of genetic changes or rare genetic variants is not possible
Solution Approach 1:
The patent changes the measurement parameter from simple RNA quantification (microarray) to comprehensive nucleic acid sequence determination (next-generation sequencing), enabling detection of genetic variants, mutations, and post-transcriptional phenomena
Solution Approach 2:
The patent replaces the microarray hybridization mechanism with next-generation sequencing technology, substituting a quantitative binding-based system with a sequence-based analytical system that provides much higher resolution and diagnostic capability
Data Source
AI summary
The present invention relates to a method for making a genetic determination based on a hair root sample, a kit adapted for carrying out said method, and to a use of a hair root sample from a test individual for making a genetic determination.