caa a22 4500 397575041 CHVBK 20180308164853.0 cr unu---uuuuu 161202e199606 xx s 000 0 eng 10.1093/hmg/5.6.827 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.6.827 Identification of a Gene Disrupted by a Microdeletion in a Patient with X-Linked Retinitis Pigmentosa (XLRP) [Elektronische Daten] [Ronald Roepman, David Bauer, Thomas Rosenberg, Gerard van Duijnhoven, Esther van de Vosse, Matthias Platzer, André Rosenthal, Hans-Hilger Ropers, Frans P. M. Cremers, Wolfgang Berger] The gene for the most frequent form of X-linked retinitis pigmentosa (XLRP), RP3, has been assigned by genetic and physical mapping to a segment of less than 1000 kbp, which is flanked by the marker DXS1110 and the ornithine transcarbamylase (OTC) gene. In search of microdeletions, we have screened the DNA of 30 unrelated patients with XLRP by employing a representative set of YAC-derived DNA fragments that were generated by restriction enzyme digestion and PCR amplification. In one of these patients, a 6.4 kbp microdeletion was detected which was not present in the DNA of 444 male controls. A cosmid contig spanning the deletion was constructed and used to isolate cDNAs from retina-specific libraries. Exons corresponding to these expressed sequences as well as other putative exons were identified by sequencing more than 30 kbp of the critical region. So far, no point mutations in these putative exon sequences have been identified. © 1996 Oxford University Press Roepman Ronald Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut Bauer David Institut fur Molekulare Biotechnologie, Genomanalyse, Jena, Germany aut Rosenberg Thomas National Eye Clinic for the Visually Impaired, Hellerup, Denmark aut van Duijnhoven Gerard Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut van de Vosse Esther Department of Genetics, Leiden University, Leiden, The Netherlands aut Platzer Matthias Institut fur Molekulare Biotechnologie, Genomanalyse, Jena, Germany aut Rosenthal André Institut fur Molekulare Biotechnologie, Genomanalyse, Jena, Germany aut Ropers Hans-Hilger Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut Cremers Frans P. M. Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut Berger Wolfgang Max-Planck-Institut fur Molekulare Genetik, Berlin, Germany aut Human Molecular Genetics Oxford University Press 5/6(1996-06), 827-833 0964-6906 5:6<827 1996 5 hmg https://doi.org/10.1093/hmg/5.6.827 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.6.827 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Roepman Ronald Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Bauer David Institut fur Molekulare Biotechnologie, Genomanalyse, Jena, Germany aut NATIONALLICENCE 700 1- Rosenberg Thomas National Eye Clinic for the Visually Impaired, Hellerup, Denmark aut NATIONALLICENCE 700 1- van Duijnhoven Gerard Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- van de Vosse Esther Department of Genetics, Leiden University, Leiden, The Netherlands aut NATIONALLICENCE 700 1- Platzer Matthias Institut fur Molekulare Biotechnologie, Genomanalyse, Jena, Germany aut NATIONALLICENCE 700 1- Rosenthal André Institut fur Molekulare Biotechnologie, Genomanalyse, Jena, Germany aut NATIONALLICENCE 700 1- Ropers Hans-Hilger Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Cremers Frans P. M. Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Berger Wolfgang Max-Planck-Institut fur Molekulare Genetik, Berlin, Germany aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/6(1996-06), 827-833 0964-6906 5:6<827 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford