Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.

Details

Serval ID
serval:BIB_244F4EDB144F
Type
Article: article from journal or magazin.
Collection
Publications
Title
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Journal
European Journal of Human Genetics
Author(s)
Koolen D.A., Sistermans E.A., Nilessen W., Knight S.J., Regan R., Liu Y.T., Kooy R.F., Rooms L., Romano C., Fichera M., Schinzel A., Baumer A., Anderlid B.M., Schoumans J., van Kessel A.G., Nordenskjold M., de Vries B.B.
ISSN
1018-4813 (Print)
ISSN-L
1018-4813
Publication state
Published
Issued date
2008
Volume
16
Number
3
Pages
395-400
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish. pdf type: Short Report
Abstract
Genome-wide analysis of DNA copy-number changes using microarray-based technologies has enabled the detection of de novo cryptic chromosome imbalances in approximately 10% of individuals with mental retardation. So far, the majority of these submicroscopic microdeletions/duplications appear to be unique, hampering clinical interpretation and genetic counselling. We hypothesised that the genomic regions involved in these de novo submicroscopic aberrations would be candidates for recurrent copy-number changes in individuals with mental retardation. To test this hypothesis, we used multiplex ligation-dependent probe amplification (MLPA) to screen for copy number changes at eight genomic candidate regions in a European cohort of 710 individuals with idiopathic mental retardation. By doing so, we failed to detect additional submicroscopic rearrangements, indicating that the anomalies tested are non-recurrent in this cohort of patients. The break points flanking the candidate regions did not contain low copy repeats and/or sequence similarities, thus providing an explanation for its non-recurrent nature. On the basis of these data, we propose that the use of genome-wide microarrays is indicated when testing for copy-number changes in individuals with idiopathic mental retardation.
Keywords
Base Sequence, Chromosome Mapping, Cohort Studies, DNA Primers, Genome, Human, Humans, Ligase Chain Reaction, Mental Retardation/genetics, Oligonucleotide Array Sequence Analysis
Pubmed
Web of science
Open Access
Yes
Create date
17/09/2011 10:04
Last modification date
20/08/2019 14:02
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