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Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization by Daniela del Gaudio; Yaping Yang; Barbara A. Boggs; Eric S. Schmitt; Jennifer A. Lee; Trilochan Sahoo; Hoang T. Pham; Joanna Wiszniewska; A. Craig Chinault; Arthur L. Beaudet; Christine M. Eng is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization about?

## For the Focus Section on Array-CGH The dystrophinopathies, which include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy, are X-linked recessive neuromuscular disorders caused by mutations in the dystrophin gene (DMD). Approximately 70% of mutations causing DMD/BMD are deletions or duplications and the remainder are point mutations. Current clinical diagnostic strategies have limits of resolution that make detection of small DMD deletions and duplications difficult to identify. We developed an oligonucleotide-based array comparative genomic hybridization (array-CGH) platform for the enhanced identification of deletions and duplications in the DMD gene. Using this platform, 39 previously characterized patient samples were analyzed, resulting in the accurate identification of 38 out of 39 rearrangements. Array-CGH did not identify a 191-bp deletion partially involving exon 19 that created a junction fragment detectable by Southern hybridization. To further evaluate the sensitivity and specificity of this array, we performed concurrent blinded analyses by conventional methodologies and array-CGH of 302 samples submitted to our

Who reads Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization?

Author

Daniela del Gaudio; Yaping Yang; Barbara A. Boggs; Eric S. Schmitt; Jennifer A. Lee; Trilochan Sahoo; Hoang T. Pham; Joanna Wiszniewska; A. Craig Chinault; Arthur L. Beaudet; Christine M. Eng

Publisher

Hindawi Limited

Published

2008

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)