caa a22 4500 467984808 CHVBK 20180323112528.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00193578 doi (NATIONALLICENCE)springer-10.1007/BF00193578 Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus [Elektronische Daten] [T. Ried, V. Mahler, P. Vogt, L. Blonden, G. van Ommen, T. Cremer, M. Cremer] Summary: A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene can be identified. These deletions preferentially include exon 45, which can be detected by multiplex polymerase chain reaction (PCR) and Southern blot analysis of genomic cosmid clones that map to this critical region. As a new approach for definitive carrier detection, we have performed chromosomal in situ suppression (CISS) hybridization with these cosmid clones in female relatives of four unrelated patients. In normal females, most metaphases showed signals on both×chromosomes, whereas only one×chromosome was labeled in carriers. Our results demonstrate that CISS hybridization can define the carrier status in female relatives of DMD patients exhibiting a deletion in the dystrophin gene. Springer-Verlag, 1990 Ried T. Institut für Humangenetik und Anthropologie der Universität, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany aut Mahler V. Institut für Humangenetik und Anthropologie der Universität, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany aut Vogt P. Institut für Humangenetik und Anthropologie der Universität, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany aut Blonden L. Department of Human Genetics, Sylvius Laboratories, NL-2333, AL Leiden, The Netherlands aut van Ommen G. Department of Human Genetics, Sylvius Laboratories, NL-2333, AL Leiden, The Netherlands aut Cremer T. Institut für Humangenetik und Anthropologie der Universität, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany aut Cremer M. Institut für Humangenetik und Anthropologie der Universität, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany aut Human Genetics Springer-Verlag 85/6(1990-10-01), 581-586 0340-6717 85:6<581 1990 85 439 https://doi.org/10.1007/BF00193578 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193578 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ried T. Institut für Humangenetik und Anthropologie der Universität, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany aut NATIONALLICENCE 700 1- Mahler V. Institut für Humangenetik und Anthropologie der Universität, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany aut NATIONALLICENCE 700 1- Vogt P. Institut für Humangenetik und Anthropologie der Universität, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany aut NATIONALLICENCE 700 1- Blonden L. Department of Human Genetics, Sylvius Laboratories, NL-2333, AL Leiden, The Netherlands aut NATIONALLICENCE 700 1- van Ommen G. Department of Human Genetics, Sylvius Laboratories, NL-2333, AL Leiden, The Netherlands aut NATIONALLICENCE 700 1- Cremer T. Institut für Humangenetik und Anthropologie der Universität, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany aut NATIONALLICENCE 700 1- Cremer M. Institut für Humangenetik und Anthropologie der Universität, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/6(1990-10-01), 581-586 0340-6717 85:6<581 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer