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Vol. 123, No. 1-4, 2008
Issue release date: March 2009
Section title: Copy Number Variations: Technology of Detection and Analysis
Cytogenet Genome Res 123:322–332 (2008)
(DOI:10.1159/000184724)

Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays

Winchester 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)

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Article / Publication Details

First-Page Preview
Abstract of Copy Number Variations: Technology of Detection and Analysis

Accepted: 7/6/2008
Published online: 3/11/2009
Issue release date: March 2009

Number of Print Pages: 11
Number of Figures: 7
Number of Tables: 3

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

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


  

Author Contacts

Request reprints from Jiannis Ragoussis
Wellcome Trust Centre for Human Genetics
Roosevelt Drive, Oxford OX3 7BN (UK)
telephone: +44 1865 287 526; fax: +44 1865 287 501
e-mail: ioannis.ragoussis@well.ox.ac.uk

  

Article Information

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

  

Publication Details

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


Article / Publication Details

First-Page Preview
Abstract of Copy Number Variations: Technology of Detection and Analysis

Accepted: 7/6/2008
Published online: 3/11/2009
Issue release date: March 2009

Number of Print Pages: 11
Number of Figures: 7
Number of Tables: 3

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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