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

Détails

ID Serval
serval:BIB_244F4EDB144F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Périodique
European Journal of Human Genetics
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
2008
Volume
16
Numéro
3
Pages
395-400
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish. pdf type: Short Report
Résumé
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.
Mots-clé
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
Oui
Création de la notice
17/09/2011 10:04
Dernière modification de la notice
20/08/2019 14:02
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