Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assaysWinchester L.a · Newbury D.F.b · Monaco A.P.b · Ragoussis J.a
aGenomics and bNeurodevelopment and Neurological Disorders, Wellcome Trust Centre for Human Genetics, Oxford (UK)
Copy Number Variants (CNV) and other submicroscopic structural changes are now recognised to be widespread across the human genome. We show that SNP data generated for association study can be utilised for the identification of deletion CNVs. During analysis of data for an SNP association study for Specific Language Impairment (SLI) a deletion was identified. SLI adversely affects the language development of children in the absence of any obvious cause. Previous studies have found linkage to a region on chromosome 16. The deletion was located in a known fragile site FRA16D in intron 5–6 of the WWOX gene (also known as FOR). Changes in the FRA16D site have been previously linked to cancer and are often characterised in cell lines. A long-range PCR assay was used to confirm the existence of the deletion. We also show the breakpoint identification and large-scale characterisation of this CNV in a normal human sample set.
© 2009 S. Karger AG, Basel
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The work was funded by the Wellcome Trust Grant 075491/Z04/B.
Accepted in revised form for publication by H. Kehrer-Sawatzki and D.N. Cooper,: 6 July 2008.
Published online: March 11, 2009
Number of Print Pages : 11
Number of Figures : 7, Number of Tables : 3, Number of References : 28
Cytogenetic and Genome Research
Vol. 123, No. 1-4, Year 2008 (Cover Date: March 2009)
Journal Editor: Schmid M. (Würzburg)
ISSN: 1424-8581 (Print), eISSN: 1424-859X (Online)
For additional information: http://www.karger.com/CGR