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The Protein Truncation Test (PTT)
By Frans B.L. Hogervorst
The Netherlands Cancer Institute, Amsterdam
An increasing number of disease genes have been identified in which the majority of
mutations result in premature termination of translation. Standard techniques to detect
minor changes in DNA [e.g., SSCP (Single-Strand Conformation Polymorphism) analysis,
heteroduplex analysis and DGGE (Denaturing Gradient Gel Electrophoresis) analysis] reveal
all sequence changes, including those which are not pathogenic (polymorphisms) or are of
questionable pathogenicity (missense mutations). We have developed a rapid and efficient
test, designated the Protein Truncation Test (PTT), which specifically uncovers certain
disease-causing mutations (i.e., only those causing premature translation termination).
Although initially developed for use with Duchenne Muscular Dystrophy (DMD; 1), PTT is now
used for screening many different disease genes.
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