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Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice
Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand
School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand
* Author to whom correspondence should be addressed.
Received: 6 February 2013; in revised form: 18 March 2013 / Accepted: 20 March 2013 / Published: 27 March 2013
Abstract: The role of gene deletion and duplication in the aetiology of disease has become increasingly evident over the last decade. In addition to the classical deletion/duplication disorders diagnosed using molecular techniques, such as Duchenne Muscular Dystrophy and Charcot-Marie-Tooth Neuropathy Type 1A, the significance of partial or whole gene deletions in the pathogenesis of a large number single-gene disorders is becoming more apparent. A variety of dosage analysis methods are available to the diagnostic laboratory but the widespread application of many of these techniques is limited by the expense of the kits/reagents and restrictive targeting to a particular gene or portion of a gene. These limitations are particularly important in the context of a small diagnostic laboratory with modest sample throughput. We have developed a gene-targeted, custom-designed comparative genomic hybridisation (CGH) array that allows twelve clinical samples to be interrogated simultaneously for exonic deletions/duplications within any gene (or panel of genes) on the array. We report here on the use of the array in the analysis of a series of clinical samples processed by our laboratory over a twelve-month period. The array has proven itself to be robust, flexible and highly suited to the diagnostic environment.
Keywords: array comparative genomic hybridisation (aCGH); dosage analysis; targeted microarray; molecular diagnosis; maturity-onset diabetes of the young (MODY); familial phaeochromocytoma/paraganglioma syndrome; Cowden syndrome
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Marquis-Nicholson, R.; Prosser, D.; Love, J.M.; Love, D.R. Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice. Microarrays 2013, 2, 51-62.
Marquis-Nicholson R, Prosser D, Love JM, Love DR. Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice. Microarrays. 2013; 2(2):51-62.
Marquis-Nicholson, Renate; Prosser, Debra; Love, Jennifer M.; Love, Donald R. 2013. "Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice." Microarrays 2, no. 2: 51-62.