SpringerProtocols: Abstract: Mutation Scanning for the Clinical Laboratory-Protein Truncation Test

Mutation Scanning for the Clinical Laboratory-Protein Truncation Test

By: Yvonne Wallis³

Abstract

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The protein truncation test (PTT) is a powerful mutation detection technique originally described for mutation screening of the dystrophin gene (1). It is based on in vitro transcription/translation technology, and is capable of directly scanning kilobase-sized fragments of DNA for chain-terminating mutations. PTT should be the mutation detection technique of choice to screen genes in which the majority (if not all) of the disease-causing mutations result in the formation of a truncated protein product.

Affiliation(s): (3) DNA Laboratory, Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK

Book Title: Molecular Diagnosis of Genetic Diseases

Series: Methods in Molecular Medicine | Volume: 92 | Pub. Date: Oct-20-2003 | Page Range: 67-79 | DOI: 10.1385/1-59259-432-8:67

Subject: Genetics/Genomics

References

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