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
Institution
Titre
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Périodique
European Journal of Human Genetics
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 9:04
Dernière modification de la notice
20/08/2019 13:02