CC2D2A Gene Mutation Detection for Joubert Syndrome Diagnosis
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Solution Overview
Problem
Current technologies lack effective diagnostic tools for identifying genetic markers and nucleotide sequences associated with autosomal recessive non-syndromic mental retardation, limiting understanding and diagnosis of the condition.
Innovation Solution
Development of a method involving proteins and nucleic acids, specifically a protein fragment truncated at amino acid 779 or earlier, and nucleic acids encoding these proteins, which can be used to screen for gene mutations associated with mental retardation through hybridization assays and PCR, along with a diagnostic kit containing antibodies and primers for accurate diagnosis.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If conventional diagnostic methods are used for mental retardation, then general assessment is possible, but specific genetic marker identification is not achieved
Solution Approach 1:
The diagnostic approach segments the complex task of mental retardation evaluation into specific genetic testing components. The patent identifies and tests specific genes (PRSS12, CRBN, CC2D1A, GRIK2) rather than attempting a comprehensive genetic screen, making the detection process more manageable and precise for identified markers.
Solution Approach 2:
The patent uses nucleic acid probes and PCR primers as intermediary tools to detect gene mutations. These molecular intermediaries bind to specific DNA sequences, enabling indirect but accurate detection of genetic markers without requiring direct observation of the complex genetic architecture.
2Quantity of substance
If comprehensive genetic screening is performed, then more genetic markers can be identified, but the complexity and cost of testing increases
Solution Approach 1:
The patent applies partial action by focusing on a limited set of genes with known associations with mental retardation rather than screening all possible genes. This selective approach identifies the most relevant genetic markers (PRSS12, CRBN, CC2D1A, GRIK2) while avoiding the excessive complexity of comprehensive genomic analysis.
3Loss of information
If molecular basis of autosomal recessive mental retardation is investigated, then etiological understanding improves, but current knowledge remains insufficient
Solution Approach 1:
The patent performs preliminary molecular analysis by sequencing and analyzing specific genes before establishing a definitive diagnosis. This preliminary genetic screening provides early etiological information that can guide further diagnostic steps and improve diagnostic confidence for identified cases.
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 identification of gene sequences and mutant proteins associated with mental retardation, providing a reliable diagnostic method for early detection and genetic counseling.
Implementation Method 1
hybridization assays
Implementation Method 2
PCR
Data Source
AI summary
The present invention provides a method of screening a subject for mutations in the CC2D2A gene that are associated with Joubert syndrome, an autosomal recessive form of mental retardation. The present invention also provides proteins that are associated with Joubert syndrome including proteins that includes an amino acid sequence that terminates in DHEGGSGMES (SEQ ID NO: 1). Also provided are nucleotide sequences encoding such proteins and methods of screening subjects to identify nucleotide sequences or proteins associated with Joubert syndrome.