Genetic Profiling Using High Mutation Rate STR Loci

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Solution Overview

Problem

Current methods for genetically identifying and distinguishing between non-human inbred animals, particularly closely related substrains, are limited by the inability to effectively utilize short tandem repeat (STR) markers due to their low mutation rates and stability, making it difficult to differentiate between individuals and identify new mutations within the genome.

Innovation Solution

A method involving the amplification and evaluation of STR loci with high mutation rates, specifically tetranucleotide repeats, to identify and differentiate between non-human inbred animals by targeting regions prone to insertions and deletions, allowing for the selection of DNA regions suitable for evolution and mutation detection, thereby enabling the genetic characterization of closely related substrains.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If traditional STR markers are used for genetic identification, then stability and reliability are improved, but the ability to differentiate between closely related inbred animals deteriorates

Engineering Contradiction:
Improvestability of STR markersVSAvoiddifferentiation capability between substrains
Core Design Contradiction:
ReliabilityVSMeasurement precision

Solution Approach 1:

The patent changes the parameter of mutation rate selection by targeting STR loci with high mutation rates (10^-3 to 10^-1) rather than using traditional stable markers. This parameter change enables detection of new mutations and differentiation between closely related substrains while maintaining reliability through controlled amplification and evaluation protocols.

Inventive Principle:
Principle #35Parameter changes

2Measurement precision

If STR loci with high mutation rates are targeted, then differentiation capability is improved, but the complexity of the evaluation process deteriorates

Engineering Contradiction:
Improvedifferentiation capabilityVSAvoidevaluation process complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent segments the genome into specific STR loci regions with high mutation rates, focusing evaluation on these targeted segments rather than the entire genome. This segmentation reduces the complexity of the evaluation process by concentrating analysis on specific, informative loci that provide sufficient differentiation capability.

Inventive Principle:
Principle #1Segmentation

3Measurement precision

If comprehensive genetic characterization is performed, then identification accuracy is improved, but the time required for analysis deteriorates

Engineering Contradiction:
Improveidentification accuracyVSAvoidanalysis time
Core Design Contradiction:
Measurement precisionVSLoss of time

Solution Approach 1:

The patent extracts and focuses on specific STR loci with high mutation rates that are most informative for differentiation, rather than performing comprehensive analysis of the entire genome. This extraction approach maintains high identification accuracy by selecting the most critical loci while significantly reducing the time required for analysis.

Inventive Principle:
Principle #2Taking out (Extraction)

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 allows for the precise identification and differentiation of closely related inbred animals by exploiting regions with high mutation rates, overcoming the limitations of existing STR markers and enabling the detection of new mutations, thus facilitating genetic monitoring and breeding strategies.

Implementation Method 1

amplifying at least one short tandem repeat loci (STR loci) in the genome of said animal

Methodology Applied
Scientific EffectPolymerase chain reaction:

Implementation Method 2

evaluating the amplified fragments to determine the alleles present at each amplified locus

Methodology Applied
Scientific EffectDNA fragment analysis:

Data Source

PatentUS11098374B2Genetic profiling method for animals
Publication Date: 2021.08.24 GVG GENETIC MONITORING

AI summary

Genetic characterisation of closely related inbreds is at present only possible by means of whole genome sequencing. This is however a time-consuming process.The invention addresses the need for a method to differentiate between closely related substrains of inbreds. The method involves analysis of at least two tandem repeat loci per chromosome. Said tandem repeat loci are characterised by high mutation rates. The amplified fragments are subsequently used to determine the alleles that are present at each amplified locus within the DNA sample.