Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

DATENSATZ AKTIONENEXPORT
Zur Ablage hinzufügen
 Lokale TagsFreigabegeschichteDetailsÜbersicht
  Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hu, H., Wrogemann, K., Kalscheuer, V., Tzschach, A., Richard, H., Haas, S. A., et al. (2009). Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J, 3(1-4), 41-9. doi:10.1007/s11568-010-9137-y.

Item is

 

einblenden: alle ausblenden: alle

Basisdaten

einblenden: ausblenden:
Datensatz-Permalink: https://hdl.handle.net/21.11116/0000-0002-E02B-1 Versions-Permalink: https://hdl.handle.net/21.11116/0000-0002-E02C-0
Genre: Zeitschriftenartikel

Externe Referenzen

einblenden:
ausblenden:
externe Referenz:
http://www.ncbi.nlm.nih.gov/pubmed/21836662 (beliebiger Volltext)
Beschreibung:
-
OA-Status:

Urheber

einblenden:
ausblenden:
 Urheber:
Hu, H.1, Autor
Wrogemann, K.1, Autor
Kalscheuer, V.1, Autor
Tzschach, A.1, Autor
Richard, H.1, Autor
Haas, S. A.1, Autor
Menzel, C.1, Autor
Bienek, M.1, Autor
Froyen, G.1, Autor
Raynaud, M.1, Autor
Van Bokhoven, H.1, Autor
Chelly, J.1, Autor
Ropers, H.1, Autor
Chen, W.1, Autor
Affiliations:
1Max Planck Society, ou_persistent13              

Inhalt

einblenden:
ausblenden:
Schlagwörter: -
 Zusammenfassung: UNLABELLED: Massive parallel sequencing has revolutionized the search for pathogenic variants in the human genome, but for routine diagnosis, re-sequencing of the complete human genome in a large cohort of patients is still far too expensive. Recently, novel genome partitioning methods have been developed that allow to target re-sequencing to specific genomic compartments, but practical experience with these methods is still limited. In this study, we have combined a novel droplet-based multiplex PCR method and next generation sequencing to screen patients with X-linked mental retardation (XLMR) for mutations in 86 previously identified XLMR genes. In total, affected males from 24 large XLMR families were analyzed, including three in whom the mutations were already known. Amplicons corresponding to functionally relevant regions of these genes were sequenced on an Illumina/Solexa Genome Analyzer II platform. Highly specific and uniform enrichment was achieved: on average, 67.9% unambiguously mapped reads were derived from amplicons, and for 88.5% of the targeted bases, the sequencing depth was sufficient to reliably detect variations. Potentially disease-causing sequence variants were identified in 10 out of 24 patients, including the three mutations that were already known, and all of these could be confirmed by Sanger sequencing. The robust performance of this approach demonstrates the general utility of droplet-based multiplex PCR for parallel mutation screening in hundreds of genes, which is a prerequisite for the diagnosis of mental retardation and other disorders that may be due to defects of a wide variety of genes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11568-010-9137-y) contains supplementary material, which is available to authorized users.

Details

einblenden:
ausblenden:
Sprache(n):
 Datum: 2009
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: Anderer: 21836662
DOI: 10.1007/s11568-010-9137-y
ISSN: 1877-6566 (Electronic) 1877-6558 (Linking)
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: Hugo J
  Alternativer Titel : The HUGO journal
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 3 (1-4) Artikelnummer: - Start- / Endseite: 41 - 9 Identifikator: -