A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis. (7th February 2013)

• Record Type: Journal Article
• Authors: Marquis-Nicholson, Renate; Lai, Daniel; Lan, Chuan-Ching; Love, Jennifer M.; Love, Donald R.
• Other Names: Bresolin N. Academic Editor.; Meco G. Academic Editor.; Wouterlood F. G. Academic Editor.
• Is Part Of: ISRN neurology. Volume 2013(2013)
• Publication Date: 2013-02-07
• Subjects: Neurology -- Periodicals; Nervous System Diseases; Neurology; Neurology; Periodicals; 616.8
• DOI: 10.1155/2013/908317
• Languages: English
• ISSNs: 2090-5505

Abstract

Abstract : Purpose . The aim of this study was to develop a streamlined mutation screening protocol for the DMD gene in order to confirm a clinical diagnosis of Duchenne or Becker muscular dystrophy in affected males and to clarify the carrier status of female family members. Methods . Sequence analysis and array comparative genomic hybridization (aCGH) were used to identify mutations in the dystrophin DMD gene. We analysed genomic DNA from six individuals with a range of previously characterised mutations and from eight individuals who had not previously undergone any form of molecular analysis. Results . We successfully identified the known mutations in all six patients. A molecular diagnosis was also made in three of the four patients with a clinical diagnosis who had not undergone prior genetic screening, and testing for familial mutations was successfully completed for the remaining four patients. Conclusion . The mutation screening protocol described here meets best practice guidelines for molecular testing of the DMD gene in a diagnostic laboratory. The aCGH method is a superior alternative to more conventional assays such as multiplex ligation-dependent probe amplification (MLPA). The combination of aCGH and sequence analysis will detect mutations in 98% of patients with the Duchenne or Becker muscular dystrophy.