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Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice
1
Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand
2
School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand
*
Author to whom correspondence should be addressed.
Microarrays 2013, 2(2), 51-62; https://doi.org/10.3390/microarrays2020051
Received: 6 February 2013
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Revised: 18 March 2013
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Accepted: 20 March 2013
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Published: 27 March 2013
(This article belongs to the Special Issue Feature Papers)
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.
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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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This is an open access article distributed under the Creative Commons Attribution License
MDPI and ACS Style
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. https://doi.org/10.3390/microarrays2020051
AMA Style
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. https://doi.org/10.3390/microarrays2020051
Chicago/Turabian StyleMarquis-Nicholson, Renate, Debra Prosser, Jennifer M. Love, and Donald R. Love. 2013. "Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice" Microarrays 2, no. 2: 51-62. https://doi.org/10.3390/microarrays2020051
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