Human Molecular Genetics, Vol 5, 827-833, Copyright © 1996 by Oxford University Press
R Roepman, D Bauer, T Rosenberg, G van Duijnhoven, E van de Vosse, M Platzer, A Rosenthal, HH Ropers, FP Cremers and W Berger
The gene for the most frequent from 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.
ARTICLES
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
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