Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1997-06-02
1999-03-02
Myers, Carla J.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 912, 435 691, 435 697, 935 16, 935 78, C12Q 168, C12P 1934
Patent
active
058769404
ABSTRACT:
The present invention relates to a functional screen assay for nonsense or frameshift mutations that allows genes of interest to be scanned. This assay is based on the cloning of segments of the gene of interest in-frame with a sequence coding for a marker followed by screening for the level of expression of the marker. Individuals at risk for any one of a number of genetic diseases, which are associated with such nonsense or frameshift mutations, can be quickly screened for chain-terminating mutations introduced by these nonsense and frameshift mutations. At present, scanning of many genes for mutations requires significant effort because the genes are large and most mutations are unique. Therefore, this assay offers a powerful option for the diagnosis of many genetic diseases.
REFERENCES:
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patent: 4683202 (1987-07-01), Mullis
Varesco, L. et al. (1993). "A Rapid Screening Method to Detect Nonsense and Frameshift Mutations: Identification of Disease-causing APC Alleles," Cancer Res. 53:5581-5584.
Harris, C.C. (1993). "p53: At the Crossroads of Molecular Carcinogenesis and Risk Assessment," Science 262:1980-1981.
Frebourg, T. et al. (1992). "A Functional Screen for Germ Line p53 Mutations Based on Transcriptional Activation," Cancer Res. 52:6976-6978.
Wu, D.Y. and Wallace, R.B. (1989). "The Ligation Amplification Reaction (LAR)--Amplification of Specific DNA Sequences Using Sequential Rounds of Template-Dependent Ligation," Genomics 4:560-569.
Groden Joanna L.
Robertson Margaret
Spirio Lisa
Tuohy Therese
Weiss Robert
Myers Carla J.
University of Utah Research Foundation
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