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CURRENT TECHNIQUES FOR THE DIAGNOSIS OF GENETIC DISEASE ARE LIMITED BY AN INABILITY TO DETECT THE MAJORITY OF MUTATIONS AND POLYMORPHISMS IN DNA.

Award Information
Agency: Department of Health and Human Services
Branch: N/A
Contract: N/A
Agency Tracking Number: 4937
Amount: $50,000.00
Phase: Phase I
Program: SBIR
Solicitation Topic Code: N/A
Solicitation Number: N/A
Timeline
Solicitation Year: N/A
Award Year: 1986
Award Start Date (Proposal Award Date): N/A
Award End Date (Contract End Date): N/A
Small Business Information
87 Cambridge Park Drive
Cambridge, MA 02140
United States
DUNS: N/A
HUBZone Owned: No
Woman Owned: No
Socially and Economically Disadvantaged: No
Principal Investigator
 MARY COLLINS
 PRINCIPAL INVESTIGATOR
 (617) 876-1170
Business Contact
Phone: () -
Research Institution
N/A
Abstract

CURRENT TECHNIQUES FOR THE DIAGNOSIS OF GENETIC DISEASE ARE LIMITED BY AN INABILITY TO DETECT THE MAJORITY OF MUTATIONS AND POLYMORPHISMS IN DNA. DNA MOLECULES THAT DIFFER BY ONE OR A FEW BASE PAIRS CAN MOST EFFICIENTLY BE DISTINGUISHED BYDENATURING GRADIENT GEL ELECTROPHORESIS DUE TO SEQUENCE SPECIFIC DIFFERENCES IN MELTING PROPERTIES OF DNA. HOWEVER,BASE CHANGES CAN BE DETECTED ONLY IN DOMAINS OF THE MOLECULETHAT MELT FIRST IN THESE GELS. GENETICS INSTITUTE WILL IMPROVE THIS TECHNIQUE SO THAT BASE PAIR CHANGES CAN BE DETECTED IN ALL DOMAINS OF A DNA MOLECULE. RESEARCHERS WILLMODIFY DNA PROBES IN WAYS THAT WILL SIGNIFICANTLY ALTER THE MELTING BEHAVIOR OF DNA HYBRIDS, SO THAT NEW REGIONS OF THE DNA MOLECULE WILL BE INCLUDED IN THE FIRST MELTING DOMAIN. IN ADDITION, EXPERIMENTAL DATA WILL BE USED TO GENERATE COMPUTER MODELS TO PREDICT MELTING BEHAVIOR OF MODIFIED DNA MOLECULES. THESE COMPUTER PROGRAMS CAN THEN BE USED TO DESIGN OPTIMAL PROBES FOR DETECTING SEQUENCE CHANGES IN AND DNA MOLECULE. THIS TECHNOLOGY SHOULD BE BROAD ENOUGH FOR APPLICATION TO ANY GENE OF INTEREST AND COULD LEAD TO THE COMMERCIAL DEVELOPMENT OF DIAGNOSTIC TESTS FOR A NUMBER OF GENETIC DISEASES.

* Information listed above is at the time of submission. *

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