Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

• DOI: 10.1097/gim.0b013e318195e191
• Publication Date: 2009-05-21T17:07:16Z
• Authors: Marwan K. Tayeh; Ephrem L.H. Chin; Vanessa R. Miller; Lora J.H. Bean; Bradford Coffee; Madhuri Hegde
• Keywords: Comparative Genomic Hybridization; 0303 health sciences; 03 medical and health sciences; Base Sequence; Gene Duplication; DNA Mutational Analysis; Mutation; Humans; Reproducibility of Results; Genetic Predisposition to Disease; Gene Deletion; 3. Good health

To develop a high resolution microarray based method to detect single- and multiexons gene deletions and duplications.We have developed a high-resolution comparative genomic hybridization array to detect single- and multiexon deletions and duplications in a large set of genes on a single microarray, using the NimbleGen 385K array with an exon-centric design.We have successfully developed, validated, and implemented a targeted gene comparative genomic hybridization arrays for detecting single- and multiexon deletions and duplication in autosomal and X-linked disease-associated genes.The comparative genomic hybridization arrays can be adopted readily by clinical molecular diagnostic laboratories as a rapid, cost-effective, highly sensitive, and accurate approach for the detection of single- and multiexon deletions or duplications, particularly in cases where direct sequencing fails to identify a mutation.