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

Microarrays

Renate Marquis-Nicholson¹  Debra Prosser¹  Jennifer M. Love¹ 

[1] Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand; E-Mails:

关键词: array comparative genomic hybridisation (aCGH);    dosage analysis;    targeted microarray;    molecular diagnosis;    maturity-onset diabetes of the young (MODY);    familial phaeochromocytoma/paraganglioma syndrome;    Cowden syndrome;   

DOI  :  10.3390/microarrays2020051

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2013 by the authors; licensee MDPI, Basel, Switzerland.