Chromosomal Deletion Detection via Nucleic Acid Probes
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Solution Overview
Problem
Current methods are inadequate for diagnosing multiple congenital anomaly syndromes accompanying mental retardation, particularly those of unknown etiology, as they fail to effectively detect chromosomal deletions or duplications that may cause these conditions.
Innovation Solution
A method involving the use of a genome disorder array and MCG Whole Genome Array-4500 to identify hemizygote deletions in the 10q24.31-10q25.1 region of human chromosomes, employing nucleic acid probes and hybridization techniques such as DNA chip methods, southern blotting, and fluorescence in situ hybridization to detect chromosomal aberrations.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If conventional diagnostic methods are used, then the diagnostic process is simple, but the detection precision of chromosomal deletions is insufficient
Solution Approach 1:
The invention segments the chromosomal region of interest (10q24.31-10q25.1) into specific genomic coordinates and uses targeted probes to detect deletions in this precise region, rather than attempting to analyze the entire genome at once. This segmentation approach enables high detection precision for the specific chromosomal deletion while maintaining a manageable diagnostic process.
2Reliability
If comprehensive genome analysis is performed, then the detection capability is improved, but the analysis time increases
Solution Approach 1:
The invention extracts and focuses analysis on the specific chromosomal region 10q24.31-10q25.1 that is associated with multiple congenital anomaly syndrome, rather than performing comprehensive whole-genome analysis. By taking out only the relevant genomic region for detection, the method achieves high diagnostic reliability while significantly reducing analysis time compared to analyzing the entire genome.
3Manufacturing precision
If traditional karyotyping is used, then the method is simple to operate, but the manufacturing precision of detection is insufficient for microstructural aberrations
Solution Approach 1:
The invention introduces nucleic acid probes as an intermediary tool to detect chromosomal deletions. These probes hybridize to specific sequences in the 10q24.31-10q25.1 region, enabling detection of microstructural aberrations with high precision. The probe-mediated approach maintains ease of operation through standardized molecular biology techniques while achieving the manufacturing precision needed to detect small chromosomal deletions that traditional karyotyping cannot resolve.
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 detection of chromosomal deletions, allowing for the diagnosis of multiple congenital anomaly syndromes accompanying mental retardation and potentially facilitating genetic-level therapies.
Implementation Method 1
employing nucleic acid probes and hybridization techniques such as DNA chip methods, southern blotting, and fluorescence in situ hybridization to detect chromosomal aberrations
Data Source
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AI summary
An object the present invention is to analyze human chromosomes in terms of the presence of a duplication or deletion so as to determine the cause of a multiple congenital anomaly syndrome accompanying mental retardation, to thereby provide a method for determining whether or not a human subject has the syndrome. The present invention includes detecting a hemizygote deletion in the region 10q24.31-10q25.1 of a human chromosome of a human subject, to thereby determine whether or not the subject has a multiple congenital anomaly syndrome accompanying mental retardation. The detection is preferably carried out by hybridizing a reference nucleic acid fragment including a part of the 10q24.31-10q25.1 region with a nucleic acid fragment of a specimen, and detecting a signal attributed to the hemizygote deletion of the 10q24.31-10q25.1 region.