TRAPPC9 Gene Mutation Detection for Developmental Disorder Screening
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Solution Overview
Problem
Current diagnostic methods lack effective genetic markers and assays for identifying susceptibility to non-syndromic autosomal recessive mental retardation and autism, particularly related to mutations in the TRAPPC9 gene.
Innovation Solution
A method involving genomic DNA analysis to detect mutations in the TRAPPC9 gene, specifically identifying truncated or non-functional NIBP proteins through nucleotide sequencing and antibody binding assays, to predict susceptibility to developmental disabilities.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current diagnostic methods are used, then general screening is possible, but identification of specific genetic markers for TRAPPC9 mutations is not achieved
Solution Approach 1:
The diagnostic method is segmented into distinct components: genomic DNA extraction, specific TRAPPC9 gene region amplification, mutation detection assays, and interpretation protocols. This segmentation allows the complex genetic analysis to be broken into manageable steps, improving detection accuracy while controlling complexity through systematic organization of the diagnostic process
Solution Approach 2:
The patent introduces specific molecular intermediaries including primers designed to bind to TRAPPC9 gene regions, probes for detecting mutations, and antibodies that recognize mutated NIBP proteins. These intermediaries serve as mediators between the genetic material and detection systems, enabling precise identification of pathogenic mutations while simplifying the overall detection process
2Reliability
If comprehensive genetic analysis is performed, then susceptibility prediction accuracy is improved, but diagnostic time and complexity increase
Solution Approach 1:
The method performs preliminary actions by first extracting genomic DNA and amplifying specific TRAPPC9 gene regions before conducting mutation detection. This preliminary amplification step concentrates the target sequences, enabling faster and more accurate mutation screening in subsequent steps, thereby improving prediction accuracy while reducing overall diagnostic time
Solution Approach 2:
The patent implements partial action by focusing detection efforts on specific high-risk mutation sites within the TRAPPC9 gene rather than analyzing the entire genome. This targeted approach to detecting mutations in critical regions provides sufficient accuracy for susceptibility prediction while significantly reducing diagnostic time and complexity compared to comprehensive genomic analysis
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 accurate prediction of susceptibility to developmental disabilities by identifying specific genetic mutations, allowing for carrier counseling and prevention of disorder transmission.
Implementation Method 1
exposing the protein to an antibody that recognizes and binds a portion of a polypeptide sequence
Data Source
AI summary
The present invention provides a method of screening a subject for mutations in the TRAPPC9 gene that are associated with developmental disabilities. The present invention also provides proteins that are associated with developmental disabilities including a truncation of NIBP. Also provided are nucleotide sequences encoding such proteins and methods of screening subjects to identify nucleotide sequences or proteins associated with developmental disabilities.