UNIT 9.11 Protein Truncation Test

  1. Rolf Vossen,
  2. Johan T. den Dunnen

Published Online: 1 SEP 2004

DOI: 10.1002/0471142905.hg0911s42

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Vossen, R. and den Dunnen, J. T. 2004. Protein Truncation Test. Current Protocols in Human Genetics. 42:9.11:9.11.1–9.11.23.

Author Information

  1. Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

Publication History

  1. Published Online: 1 SEP 2004
  2. Published Print: JUL 2004


The protein truncation test detects mutations at the protein level that lead to premature translation termination. The method has evolved considerably since is original publication in this manual. This thoroughly revised unit describes what is now the preferred method for performing the protein truncation test. Transcription and translation are performed in separate reactions; during translation, biotin-labeled or N-terminally tagged proteins are synthesized. The translation products are detected on immunoblots via chemiluminescence. An Alternate Protocol using coupled in vitro transcription/translation and radiolabeled proteins is also presented.