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Stöhr, H. ; Marquardt, A. ; Rivera, A. ; Cooper, P. R. ; Nowak, N. J. ; Shows, T. B. ; Gerhard, D. S. ; Weber, Bernhard H. F.

A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1

Stöhr, H., Marquardt, A., Rivera, A., Cooper, P. R., Nowak, N. J., Shows, T. B., Gerhard, D. S. und Weber, Bernhard H. F. (1998) A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. Genome research 8 (1), S. 48-56.

Veröffentlichungsdatum dieses Volltextes: 11 Apr 2017 11:39
Artikel
DOI zum Zitieren dieses Dokuments: 10.5283/epub.35467


Zusammenfassung

Best's vitelliform macular dystrophy is an autosomal dominant disorder of unknown causes. To identify the underlying gene defect the disease locus has been mapped to an approximately 1.4-Mb region on chromosome 11q12-q13.1. As a prerequisite for its positional cloning we have assembled a high coverage PAC contig of the candidate region. Here, we report the construction of a primary transcript map ...

Best's vitelliform macular dystrophy is an autosomal dominant disorder of unknown causes. To identify the underlying gene defect the disease locus has been mapped to an approximately 1.4-Mb region on chromosome 11q12-q13.1. As a prerequisite for its positional cloning we have assembled a high coverage PAC contig of the candidate region. Here, we report the construction of a primary transcript map that places a total of 19 genes within the Best's disease region. This includes 14 transcripts of as yet unknown function obtained by EST mapping and/or cDNA selection and five genes mapped previously to the interval (CD5, PGA, DDB1, FEN1, and FTH1). Northern blot analyses were performed to determine the expression profiles in various human tissues. At least three genes appear to be good candidates for Best's disease based on their abundant expression in retina or retinal pigment epithelium. Additional information on the functional properties of these genes, as well as mutation analyses in Best's disease patients, have to await their further characterization. [The GenBank/EMBL accession numbers and details of the isolation, localization, and characterization of ESTs and selected cDNAs are available as online supplements in Online Tables 1-3 at http://www.genome.org.]



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Details

DokumentenartArtikel
Titel eines Journals oder einer ZeitschriftGenome research
Verlag:HighWire Press
Band:8
Nummer des Zeitschriftenheftes oder des Kapitels:1
Seitenbereich:S. 48-56
Datum1998
InstitutionenMedizin > Lehrstuhl für Humangenetik
Identifikationsnummer
WertTyp
10.1101/gr.8.1.48DOI
9445487PubMed-ID
Dewey-Dezimal-Klassifikation600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin
StatusVeröffentlicht
BegutachtetJa, diese Version wurde begutachtet
An der Universität Regensburg entstandenNein
URN der UB Regensburgurn:nbn:de:bvb:355-epub-354671
Dokumenten-ID35467

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