Open Access Highly Accessed Research article

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

Richard R Bennett1*, Johan den Dunnen2, Kristine F O'Brien3, Basil T Darras4 and Louis M Kunkel1,3,5

1 Division of Genetics, Children's Hospital, Boston, Massachusetts, USA

2 Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Nederland

3 Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA

4 Department of Neurology, Children's Hospital, Boston, Massachusetts, USA

5 Howard Hughes Medical Institute, Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA

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BMC Genetics 2001, 2:17 doi:10.1186/1471-2156-2-17

Published: 17 October 2001

Additional files

Additional file A: Primer sequences and DHPLC temperatures Excel spreadsheet:

This file contains a database that includes primer sequences for amplifying each of the dystrophin screening fragments, fragment length, and the suggested first pass and second pass WAVE® oven temperatures.

Format: XLS Size: 36KB Download file

This file can be viewed with: Microsoft Excel Viewer

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Additional file B: Details regarding procedure and cost of DHPLC screening, observations regarding the dystrophin gene, and statistics about DMD carrier females.:

This file outlines the expenditures and procedures related to DHPLC screening and comments upon interesting observations made as a result of this project.

Format: DOC Size: 30KB Download file

This file can be viewed with: Microsoft Word Viewer

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