Single Nucleotide Polymorphism Detection by DNA Melting Analysis
Posted Jul 30 2012 8:00pm
Description of Invention: A Single Nucleotide Polymorphism (SNP) is defined as a single base pair difference occurring between members of the same species, or between paired chromosomes in an individual. Some SNPs have been associated with disease traits, and may predispose an individual to a disease or may influence that individual's response to therapeutic agents. There are several high-throughput methods that can detect SNPs of moderate to high abundance, where the polymorphism frequency is greater than ten percent. However, SNPs that alter gene expression or affect the structure of a gene product are often of much lower abundance, with allele frequency of around one percent. Thus, there is a need to devise high-throughput, inexpensive and efficient methods for their detection.
The patent discloses methods for accurately detecting nucleotide sequence variations, such as polymorphisms, deletions, insertions or inversions, by comparison of DNA melting profiles. Methods of detecting single nucleotide sequence variations within arrays are also disclosed, as are methods of detecting mutations correlated with genetic disease.
Detection of SNPs and small insertions, deletions, and inversions in a DNA sequence.
Prediction of the etiology or prognosis of certain diseases, or determination of disease traits among individuals.
Useful for detecting rarely-occurring SNPs.
High throughput, simple method that measures DNA melting efficiently, without using intervening steps such as gels, columns etc.
Inventors: Robert H Lipsky (NIAAA) Chiara M Mazzanti (NIAAA) David Goldman (NIAAA)
Collaborative Research Opportunity: The National Institute on Alcohol Abuse and Alcoholism Section on Molecular Genetics is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize single nucleotide polymorphism detection by melting analysis. Please contact Dr. Robert Lipsky at 301/402-5591 or firstname.lastname@example.org for more information.
For Licensing Information Please Contact: Suryanarayana Vepa Ph.D. NIH Office of Technology Transfer 6011 Executive Blvd. Suite 325, Rockville, MD 20852 United States Email: email@example.com Phone: 301-435-5020 Fax: 301-402-0220