Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

Am J Hum Genet. 2005 May;76(5):750-62. doi: 10.1086/429588. Epub 2005 Mar 8.


The development of high-throughput screening methods such as array-based comparative genome hybridization (array CGH) allows screening of the human genome for copy-number changes. Current array CGH strategies have limits of resolution that make detection of small (less than a few tens of kilobases) gains or losses of genomic DNA difficult to identify. We report here a significant improvement in the resolution of array CGH, with the development of an array platform that utilizes single-stranded DNA array elements to accurately measure copy-number changes of individual exons in the human genome. Using this technology, we screened 31 patient samples across an array containing a total of 162 exons for five disease genes and detected copy-number changes, ranging from whole-gene deletions and duplications to single-exon deletions and duplications, in 100% of the cases. Our data demonstrate that it is possible to screen the human genome for copy-number changes with array CGH at a resolution that is 2 orders of magnitude higher than that previously reported.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exons
  • Female
  • Gene Deletion
  • Gene Dosage*
  • Genetic Diseases, Inborn / genetics
  • Genome, Human*
  • Humans
  • Male
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis* / methods*
  • Reproducibility of Results