The protein truncation test (PTT) as a method of detection for choroideremia mutations

Experimental Eye Research
L BeaufrèreM Claustres

Abstract

The predominance of truncative mutations responsible for choroideremia (CHM) led us to investigate the use of the protein truncation test (PTT) applied to lymphocyte RNA derived from affected males as a scanning method. The entire CHM coding region was reversed-transcribed in three overlapping cDNA segments (RT-PCR) which were amplified and further analysed by PTT after in vitro transcription/ translation. This strategy enabled us to detect the CHM-causative alteration in each of the four unrelated patients from southern France who were investigated. We describe three novel mutations (E177X, 323delT, 1313delTC), and report one recurrent mutation (R267X) in CHM. We believe this to be the first attempt at applying RT-PCR-PTT to CHM mutation detection.

References

Mar 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·D E MerryR L Nussbaum
Oct 25, 1994·Proceedings of the National Academy of Sciences of the United States of America·T E SmelandM S Brown
Jul 1, 1994·Human Molecular Genetics·H van BokhovenF P Cremers
Oct 1, 1993·Human Molecular Genetics·P A RoestJ T den Dunnen

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Citations

Apr 29, 2015·Clinical & Experimental Ophthalmology·Terri L McLarenTina M Lamey
Aug 31, 2002·Human Mutation·Kerry E McTaggartIan M MacDonald
Apr 18, 2019·Investigative Ophthalmology & Visual Science·Valentina Di IorioFrancesco Testa
Jul 29, 1999·Human Mutation·J T Den Dunnen, G J Van Ommen
Sep 20, 2020·Molecular Genetics & Genomic Medicine·Tiziana FiorettiGabriella Esposito
Feb 5, 2021·Human Mutation·Christina ZeitzIsabelle Audo

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