Detection limit of intragenic deletions with targeted array comparative genomic hybridization.

ABSTRACT:

Background

Pathogenic mutations range from single nucleotide changes to deletions or duplications that encompass a single exon to several genes. The use of gene-centric high-density array comparative genomic hybridization (aCGH) has revolutionized the detection of intragenic copy number variations. We implemented an exon-centric design of high-resolution aCGH to detect single- and multi-exon deletions and duplications in a large set of genes using the OGT 60 K and 180 K arrays. Here we describe the molecular characterization and breakpoint mapping of deletions at the smaller end of the detectable range in several genes using aCGH.

Results

The method initially implemented to detect single to multiple exon deletions, was able to detect deletions much smaller than anticipated.

SUBMITTER: Askree SH 

PROVIDER: S-EPMC4235222 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature