Identification of Disease Genes by CGH Microarrays


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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Further Reading

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.

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Veltman, Joris A, and Vrijenhoek, Terry(Jul 2007) Identification of Disease Genes by CGH Microarrays. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0020229]