IGVL3-21 Allele Detection for CLL Risk Assessment
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Solution Overview
Problem
Current methods lack a reliable genetic marker for determining the hereditary risk of developing Chronic Lymphocytic Leukemia (CLL), despite known familial predispositions.
Innovation Solution
Detection of a specific somatic mutation in the IGVL3-21 gene allele, particularly allele 01, which leads to autonomous activation of the B-cell receptor, allowing for the identification of individuals at increased risk through genetic testing or antibody-based methods.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If genetic testing for CLL risk markers is implemented, then early detection and preventive measures can be taken, but no reliable genetic marker has been established yet
Solution Approach 1:
The patent applies preliminary action by detecting the IGVL3-21*01 allele before the development of CLL symptoms. The method identifies individuals carrying the risk allele through genetic testing, enabling early preventive measures to be taken before the disease manifests, thus resolving the contradiction between reliable detection and available risk information.
Solution Approach 2:
The patent uses the IGVL3-21*01 allele as an intermediary marker that indirectly indicates CLL risk. Instead of directly detecting the disease or using complex risk assessment models, the method employs this specific genetic allele as a mediator to identify individuals at risk, thereby establishing reliable detection capability.
2Measurement precision
If somatic mutation detection in IGVL3-21 is used, then autonomous BCR activation can be identified, but the mutation occurs at low frequency (10-15%) in CLL patients
Solution Approach 1:
The patent applies local quality by focusing detection on a specific region (IGVL3-21*01 allele) within the broader B-cell receptor system. Instead of attempting to detect all possible mutations across the entire BCR, the method concentrates on this specific allele that codes for the autonomously active form, thereby achieving precise detection despite the low overall mutation frequency.
Solution Approach 2:
The patent changes the detection parameter from general BCR mutation detection to specific allele identification (IGVL3-21*01). By shifting the focus to this particular allele that confers autonomous activation, the method overcomes the low frequency issue through targeted detection rather than broad screening.
3Measurement precision
If allele-specific detection methods are developed, then risk assessment accuracy improves, but the complexity of detection systems increases
Solution Approach 1:
The patent applies the taking out principle by extracting and isolating the specific IGVL3-21*01 allele from the complex landscape of B-cell receptor genetics. The method focuses solely on detecting this specific allele using targeted approaches such as PCR or sequencing, thereby achieving high accuracy without requiring complex comprehensive genomic analysis systems.
Data Source
AI summary
The present invention relates to the field of detection and prophylaxis of a tendency to form the symptoms of a CLL, which is based on a mutation of a specific gene used to form the B-cell receptor (BCR). In order to detect said tendency, an allele of the IGVL3-21 gene, the allele IGVL3-21*01, is detected by sequencing or PCR or a different suitable method.