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Microarrays 2013, 2(2), 51-62; doi:10.3390/microarrays2020051
Article

Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice

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 and 1,2,*
Received: 6 February 2013; in revised form: 18 March 2013 / Accepted: 20 March 2013 / Published: 27 March 2013
(This article belongs to the Special Issue Feature Papers)
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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 array comparative genomic hybridisation (aCGH); dosage analysis; targeted microarray; molecular diagnosis; maturity-onset diabetes of the young (MODY); familial phaeochromocytoma/paraganglioma syndrome; Cowden syndrome
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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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.

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.

Chicago/Turabian Style

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.


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