Identification of Disease Genes by CGH Microarrays

Joris A Veltman, Department of Human Genetics, Nijmegen, The Netherlands
Terry Vrijenhoek, Department of Human Genetics, Nijmegen, The Netherlands

Published online: July 2007

DOI: 10.1002/9780470015902.a0020229

Subtle genomic copy number alterations cause a wide variety of human diseases. Microarray-based genome profiling by comparative genomic hybridization detects these alterations, which makes it an attractive disease gene-identification strategy.

Keywords: array CGH; genomics; microarray; human disease

Figure 1. Increase in genomic copy number detection resolution. Four techniques can be used for genome-wide copy number detection: conventional chromosome analysis or karyotyping, 1 Mb BAC arrays, tiling path BAC arrays and high-density SNP or oligonucleoitde arrays. Examples of individual chromosome plots obtained by the different techniques are displayed at the right-hand side (different chromosomes, different patient samples). The increase in measurements per chromosome clearly increases the detection resolution, which is indicated in the magnifying glasses.
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    Carter NP and Vetrie D (2004) Applications of genomic microarrays to explore human chromosome structure and function. Human Molecular Genetics 13(Special Number 2): R297–R302.
    Feuk L, Carson AR and Scherer SW (2006) Structural variation in the human genome. Nature Reviews Genetics 7: 85–97.
    Feuk L, Marshall CR, Wintle RF and Scherer SW (2006) Structural variants: changing the landscape of chromosomes and design of disease studies. Human Molecular Genetics 15(Special Number 1): R57–R66.
    Speicher MR and Carter NP (2005) The new cytogenetics: blurring the boundaries with molecular biology. Nature Review Genetics 6: 782–792.
    Vissers LE, Veltman JA, Geurts van Kessel A and Brunner HG (2005) Identification of disease genes by whole genome CGH arrays. Human Molecular Genetics 14(Special Number 2): R215–R223.
    Ylstra B, van den IJssel P, Carvalho B, Brakenhoff RH and Meijer GA (2006) BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH). Nucleic Acids Research 34: 445–450.

Related Sub-Topics:

Mutational Mechanisms of Genetic Disease | Techniques and Tools in Clinical Genetics | Linkage Analysis | Gene Mapping by Disease Association | Techniques and Tools in Molecular Biology
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Article Title: Identification of Disease Genes by CGH Microarrays
 
How to Cite close
Veltman, Joris A, and Vrijenhoek, Terry(Jul 2007) Identification of Disease Genes by CGH Microarrays. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020229]