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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 468992.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
A new chromosome X Exon-specific microarray platform for screening of patients with X-linked disorders
Authors:Bashiardes, Stavros; Kousoulidou, Ludmila; van Bokhoven, Hans; Ropers, Hans-Hilger; Chelly, Jamel; Moraine, Claude; de Brouwer, Arjan P. M.; van Esch, Hilde; Froyen, Guy; Patsalis, Philippos C.
Language:English
Date of Publication (YYYY-MM-DD):2009-11
Title of Journal:Journal of Molecular Diagnostics
Journal Abbrev.:J Mol Diagn
Volume:11
Issue / Number:6
Start Page:562
End Page:568
Copyright:© 2009 American Society for Investigative Pathology & Association for Molecular Pathology
Review Status:not specified
Audience:Experts Only
Abstract / Description:Recent studies and advances in high-density oligonucleotide arrays have shown that microdeletions and microduplications occur at a high frequency in the human genome, causing various genetic conditions including mental retardation. Thus far little is known about the pathways leading to this disease, and implementation of microarrays is hampered by their increasing cost and complexity, underlining the need for new diagnostic tools. The aim of this study was to introduce a new targeted platform called "chromosome X exon-specific array" and to apply this new platform to screening of 20 families (including one blind positive control) with suspected X-linked mental retardation, to identify new causative X-linked mental retardation genes. The new microarray contains of 21,939 oligonucleotides covering 92.9% of all exons of all genes on chromosome X. Patient screening resulted in successful identification of the blind positive control included in the sample of 20 families, and one of the remaining 19 families was found to carry a 1.78-kilobase deletion involving all exons of pseudogene BRAF2. The BRAF2 deletion segregated in the family and was not found in 200 normal male samples, and no copy number variations are reported in this region. Further studies and focused investigation of X-linked disorders have the potential to reveal the molecular basis of human genetic pathological conditions that are caused by copy-number changes in chromosome X genes.
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Department of Cytogenetics and Genomics, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
INSERM U129-ICGM, Faculte de Medecine Cochin, Paris, France Centre Hospitalier Universitaire de Tours, Service de Genetique, Hospital Bretoneau, Tours, France
Centre for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Human Genome Laboratory, Vlaams Institut voor Biotechnologie (VIB), Department of Human Genetics, Katholieke Universiteit, Leuven, Belgium
Identifiers:DOI:10.2353/jmoldx.2009.090086
ISSN:1525-1578
URL:http://jmd.amjpathol.org/cgi/reprint/11/6/562
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