Microarray-based comparative genomic hybridization and its applications in human genetics

doi:10.1111/j.1399-0004.2004.00322.x

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Wiley InterScience

Clinical Genetics

Volume 66 Issue 6, Pages 488 - 495

Published Online: 16 Aug 2004

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Mini Review

Microarray-based comparative genomic hybridization and its applications in human genetics

AE Oostlander ^a , GA Meijer ^b and B Ylstra ^a *

^a Microarray Core Facility, ^b Department of Pathology, Vu University Medical Center, Amsterdam, The Netherlands

Correspondence to *Bauke Ylstra, Microarray Core Facility, Vu University Medical Center, van der Boechorststraat 7-9, 1081BT Amsterdam, The Netherlands.
Tel.: +31 20 4448299;
fax: +31 20 4448318;
e-mail: b.ylstra@vumc.nl

KEYWORDS

chromosomal abnormalities • comparative genomic hybridization • human genetic disorders • microarray

Oostlander AE, Meijer GA, Ylstra B. Microarray-based comparative genomic hybridization and its applications in human genetics.

ABSTRACT

Through the years, several techniques capable of detecting DNA copy number changes have been developed. A number of those, such as karyotyping and fluorescence in situ hybridization (FISH), have proven to be valuable tools in both research and diagnostics. Recently, a new technique, called microarray-based comparative genomic hybridization (array CGH), has been introduced. Array CGH has proven to be a specific, sensitive, and fast technique, with considerable advantages compared to other methods used for the analysis of DNA copy number changes. Array CGH enables analysis of the whole genome in a single experiment. Until now, its applications have been mainly directed at detecting genomic abnormalities in cancer. However, array CGH is also suitable for the analysis of DNA copy number aberrations that cause human genetic disorders. This review gives an overview of array CGH and its applications in human genetics. Advantages, limitations, and future perspectives of array CGH are discussed.

Received 9 March 2004, revised and accepted for publication 14 June 2004

DIGITAL OBJECT IDENTIFIER (DOI)

10.1111/j.1399-0004.2004.00322.x About DOI