Scalable SNP assay with single molecule sensitivity

This technology provides a method using labeled primers or probes for nucleic acid target detection with single molecule sensitivity.

Unmet Need: Rapid detection of nucleic acid targets and nanopores

Single nucleotide polymorphisms (SNPs), or single nucleotide changes in DNA, are frequently used as unique biomarkers for diseases and personalized medicine. Current multiplex SNP assays primarily use either mass spectrometric detection or fluorescent tags and optical detection. These methods of detecting SNPs require bulky equipment and are too costly to use to perform large scale SNP studies. Currently, there is no method available for singe molecule detection of SNPs that is both cost-effective and scalable.

The Technology: Cost-effective, multiplexed SNP assay with single molecule resolution

This assay relies on primers or probes linked to molecular tags of varying sizes to identify specific genetic sequences, such as SNPs. These tags are then electronically differentiated at a single molecule level using a nanopore, allowing for sequence identification. This highly sensitive technology is suited for use in both a research and clinical setting as it is cost-effective, does not require bulky equipment, and can be used in a high-throughput manner. With accessible SNP identification, this technology makes it possible to characterize polymorphic areas linked to disease and allows for further development of personalized therapeutics.

This technology has been validated with a primer library targeting SNP sites.

Applications:

• SNP identification from patient samples for personalized treatment
• Identification of biomarkers of disease
• Genetic fingerprinting for identity testing
• Quantitative trait loci (genotype/phenotype correlations)
• Studies of gene expression patterns

Advantages:

• High-throughput platform for disease marker identification
• Does not require bulky equipment
• Single molecule resolution via electronic tag detection
• Cost-effective, making large scale studies feasible

Lead Inventor:

Jingyue Ju, Ph.D.

Patent Information:

Patent Issued

Related Publications:

• Tong AK, Ju J. “Multiplex single-nucleotide polymorphism detection by combinatorial fluorescence energy transfer tags and molecular affinity” Methods Mol Biol. 2006;335:201-14.

• Bai X, Kim S, Li Z, Turro NJ, Ju J. “Design and synthesis of a photocleavable biotinylated nucleotide for DNA analysis by mass spectrometry” Nucleic Acids Res. 2004 Jan 26;32(2):535-41.

Tech Ventures Reference:

• IR CU14223

• Licensing Contact: Cynthia Lang