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
Amount:
$50,000.00
Award Year:
1986
Program:
SBIR
Phase:
Phase I
Contract:
n/a
Award Id:
4937
Agency Tracking Number:
4937
Solicitation Year:
n/a
Solicitation Topic Code:
n/a
Solicitation Number:
n/a
Small Business Information
Genetics Institute Inc (Currently Genetics Institute Inc.)
87 Cambridge Park Drive, Cambridge, MA, 02140
Hubzone Owned:
N
Minority Owned:
N
Woman Owned:
N
Duns:
n/a
Principal Investigator:
MARY COLLINS
PRINCIPAL INVESTIGATOR
(617) 876-1170
Business Contact:
() -
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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