Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes.

摘要

Oligonucleotide-based comparative genomic hybridization array (array CGH) analysis allows for the detection of genomic rearrangements such as exonic deletions and/or amplifications. Recently, array CGH has been validated for an increasing number of genetic diagnosis applications, including muscle diseases (1, 2). Here, we validated the efficiency of a newly developed array CGH for the detection of genomic rearrangements of the calpain-3 (CAPN3) and dysferlin (DYSF) genes, implicated in the two most prevalent forms of autosomal-recessive limb girdle muscular dystrophy, respectively types 2A (MIM #253600) and 2B (MIM# 253601).An array CGH was specifically designed through the NMD-CHIP consortium (unpublished data), to cover a set of genes implicated in muscle diseases, including the entire CAPN3 and DYSF genomic loci, respectively with a 20- and a 30-bp probe tilling. Array CGH analysis was performed as described (1) on 12-plex custom oligonucleotide arrays. Arrays were scanned at a 2 mu resolution with a Nimblegen MS 200 Microarray Scanner (Roche NimbleGen Inc., Reykjavik, Iceland).