Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10

Sigrid Wayne; Vazken M Der Kaloustian; Melvin Schloss; Robert Polomeno; Daryl A Scott; J. Fielding Hejtmancik; Val C Sheffield; Richard J H Smith

doi:10.1093/hmg/5.10.1689

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Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10

Journal article

Open access

Peer reviewed

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10

Sigrid Wayne, Vazken M Der Kaloustian, Melvin Schloss, Robert Polomeno, Daryl A Scott, J. Fielding Hejtmancik, Val C Sheffield and Richard J H Smith

Human molecular genetics, Vol.5(10), pp.1689-1692

10/1996

DOI: 10.1093/hmg/5.10.1689

PMID: 8894709

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Abstract

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.

Humans

Retinitis Pigmentosa - genetics

Chromosome Mapping

Hearing Loss, Sensorineural - genetics

Chromosomes, Human, Pair 10

Syndrome

Genetic Linkage

Details

Title: Subtitle: Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
Creators: Sigrid Wayne - Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
Vazken M Der Kaloustian
Melvin Schloss
Robert Polomeno
Daryl A Scott
J. Fielding Hejtmancik
Val C Sheffield
Richard J H Smith
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.5(10), pp.1689-1692
DOI: 10.1093/hmg/5.10.1689
PMID: 8894709
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: 1RO1 DC02046-01 / NIDCD NIH HHS
Language: English
Date published: 10/1996
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Otolaryngology; Internal Medicine; Ophthalmology and Visual Sciences
Record Identifier: 9984006435502771

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