caa a22 4500 397573820 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199610 xx s 000 0 eng 10.1093/hmg/5.10.1689 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.10.1689 Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10 [Elektronische Daten] [Sigrid Wayne, Vazken M. Der Kaloustian, Melvin Schloss, Robert Polomeno, Daryl A. Scott, J. Fielding Hejtmancik, Val C. Sheffield, Richard J. H. Smith] The Usher syndromes (USH) are a group of autosomal recessive diseases characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Five USH genes have been mapped and at least one additional gene is known to exist. By homozygosity mapping in a consanguineous family, a sixth USH gene has been localized. Clinical findings in the four affected children are consistent with established diagnostic criteria for Ush1. Linkage to known USH loci was excluded, and using two genomic DNA pools, one from the affected children and the other from the parents, 161 polymorphic markers evenly spaced across the autosomal human genome were screened. The location of the Ush1D gene was defined by the only region showing homozygosity by descent in the affected siblings, a 15 cM interval on chromosome 10q bounded by D10S529 and D10S573. © 1996 Oxford University Press Wayne Sigrid Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USA aut Der Kaloustian Vazken M. Departments of Pediatrics and Human Genetics aut Schloss Melvin Department of Otolaryngology, McGill University, Montreal, Quebec, Canada aut Polomeno Robert Department of Ophthalmology, McGill University, Montreal, Quebec, Canada aut Scott Daryl A. Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA aut Hejtmancik J. Fielding National Eye Institute, National Institutes of Health, Bethesda, MD, USA aut Sheffield Val C. Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA aut Smith Richard J. H. Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USA aut Human Molecular Genetics Oxford University Press 5/10(1996-10), 1689-1692 0964-6906 5:10<1689 1996 5 hmg https://doi.org/10.1093/hmg/5.10.1689 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.10.1689 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wayne Sigrid Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USA aut NATIONALLICENCE 700 1- Der Kaloustian Vazken M. Departments of Pediatrics and Human Genetics aut NATIONALLICENCE 700 1- Schloss Melvin Department of Otolaryngology, McGill University, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- Polomeno Robert Department of Ophthalmology, McGill University, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- Scott Daryl A. Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA aut NATIONALLICENCE 700 1- Hejtmancik J. Fielding National Eye Institute, National Institutes of Health, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Sheffield Val C. Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA aut NATIONALLICENCE 700 1- Smith Richard J. H. Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/10(1996-10), 1689-1692 0964-6906 5:10<1689 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