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Options for the Protein
Truncation Test Protocol:
A Molecular Diagnostics Application
By Dan Kephart, Ph.D., Rich Rhodes, B.S., and Gary Kobs, B.S.
Promega Corporation
The identification of heritable genetic mutations is an important
tool used for the detection, study, prediction and treatment of many diseases including
muscular dystrophy and certain cancers. While analysis of mutations at the nucleic acid
level is a powerful scientific approach, many of the methods currently in use (e.g.,
single-strand conformation polymorphism, sequencing) are labor intensive. Unfortunately,
these methods reveal nonpathogenic as well as disease-causing mutations. The Protein
Truncation Test (PTT) can scan large regions of genetic material by analyzing translation
terminating mutations at the protein level and only detects truncation mutations,
greatly simplifying analysis. The core technologies described here can be used for PTT or
for other research applications. In this report, we demonstrate the use of multiple
Promega systems for the in vitro production of proteins for use in the PTT protocol or for
biochemical analysis.
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