Screening for mutations by expressing cDNA segments

Details Screening for mutations by expressing cDNA segments Screening for mutations by expressing cDNA segments

1993-08-17

1997-08-12

Arthur, Lisa B.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 691, 935 77, 935 78, C12Q 168, C12P 2100

Patent

active

056564252

ABSTRACT:
A rapid screening method is described for detecting, localizing, and expressing pathogenic mutations in patients suffering from diseases which can include genetically inherited diseases. The screening method allows simultaneous localization and expression of the mutation. By identifying the types and locations of the mutations causing a disease, the method can aid in determining the course of treatment for the disease. The method involves making an expression vector containing a sequence encoding an inactive enzyme by deleting a segment of the coding sequence of the enzyme in the vector, replacing the deleted segment with a corresponding segment from a patient's enzyme coding sequence to make a hybrid enzyme, expressing the hybrid enzyme and assaying the hybrid enzyme for activity to determine whether the Patient's enzyme cDNA contains a pathogenic mutation.

REFERENCES:
patent: 4935341 (1990-06-01), Bargmann et al.
Kozich et al. (Aug. 18, 1992) Human Mutation 1: 113-123.
Franchis et al. (1994) Human Molecular Genetics 3(7): 1103-1108.
Matsuura et al. Hum. Genet (1994) 93: 129-134.
Kozich et al. Am. J. Hum. Genet (1994) 49 (4 Suppl.): 410.

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