Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium

Bronya J.B Keats; Alexander A Todorov; Larry D Atwood; Mary Z Pelias; J. Fielding Hejtmancik; William J Kimberling; Mark Leppert; Richard A Lewis; Richard J.H Smith

doi:10.1016/S0888-7543(05)80172-7

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Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium

Journal article

Peer reviewed

Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium

Bronya J.B Keats, Alexander A Todorov, Larry D Atwood, Mary Z Pelias, J. Fielding Hejtmancik, William J Kimberling, Mark Leppert, Richard A Lewis and Richard J.H Smith

Genomics (San Diego, Calif.), Vol.14(3), pp.707-714

1992

DOI: 10.1016/S0888-7543(05)80172-7

PMID: 1427898

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Abstract

Usher Syndrome Type 1 is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of retinitis pigmentosa in childhood or early adolescence. Members of the Usher Syndrome Consortium, whose objective is to locate and isolate the genes for Usher syndrome, have pooled linkage data from 36 families with 111 affected individuals. We report the analysis of 206 blood group, protein, and DNA marker polymorphisms. No evidence of linkage heterogeneity among families was found for any of the markers studied; the negative lod scores exclude the locus for this disease from about 39% of the genome. Our results indicate the regions of the genome to which our continuing efforts should be directed.

Details

Title: Subtitle: Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium
Creators: Bronya J.B Keats - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, Louisiana 70112, USA
Alexander A Todorov - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, Louisiana 70112, USA
Larry D Atwood - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, Louisiana 70112, USA
Mary Z Pelias - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, Louisiana 70112, USA
J. Fielding Hejtmancik - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, Louisiana 70112, USA
William J Kimberling - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, Louisiana 70112, USA
Mark Leppert - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, Louisiana 70112, USA
Richard A Lewis - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, Louisiana 70112, USA
Richard J.H Smith - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, Louisiana 70112, USA
Resource Type: Journal article
Publication Details: Genomics (San Diego, Calif.), Vol.14(3), pp.707-714
DOI: 10.1016/S0888-7543(05)80172-7
PMID: 1427898
NLM abbreviation: Genomics
ISSN: 0888-7543
eISSN: 1089-8646
Publisher: Elsevier Inc
Language: English
Date published: 1992
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; Otolaryngology; Internal Medicine
Record Identifier: 9984007196102771

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