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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)707-714
Number of pages8
JournalGenomics
Volume14
Issue number3
DOIs
StatePublished - Jan 1 1992

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Usher Syndromes
Genome
Lod Score
Retinitis Pigmentosa
Information Storage and Retrieval
Blood Group Antigens
Genetic Markers
Hearing Loss
Blood Proteins
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Keats, B. J. B., Todorov, A. A., Atwood, L. D., Pelias, M. Z., Hejtmancik, J. F., Kimberling, W. J., ... Smith, R. J. H. (1992). Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium. Genomics, 14(3), 707-714. https://doi.org/10.1016/S0888-7543(05)80172-7

Linkage studies of usher syndrome type 1 : Exclusion results from the usher syndrome consortium. / Keats, Bronya J.B.; Todorov, Alexander A.; Atwood, Larry D.; Pelias, Mary Z.; Hejtmancik, J. Fielding; Kimberling, William J; Leppert, Mark; Lewis, Richard A.; Smith, Richard J.H.

In: Genomics, Vol. 14, No. 3, 01.01.1992, p. 707-714.

Research output: Contribution to journalArticle

Keats, BJB, Todorov, AA, Atwood, LD, Pelias, MZ, Hejtmancik, JF, Kimberling, WJ, Leppert, M, Lewis, RA & Smith, RJH 1992, 'Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium', Genomics, vol. 14, no. 3, pp. 707-714. https://doi.org/10.1016/S0888-7543(05)80172-7
Keats BJB, Todorov AA, Atwood LD, Pelias MZ, Hejtmancik JF, Kimberling WJ et al. Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium. Genomics. 1992 Jan 1;14(3):707-714. https://doi.org/10.1016/S0888-7543(05)80172-7
Keats, Bronya J.B. ; Todorov, Alexander A. ; Atwood, Larry D. ; Pelias, Mary Z. ; Hejtmancik, J. Fielding ; Kimberling, William J ; Leppert, Mark ; Lewis, Richard A. ; Smith, Richard J.H. / Linkage studies of usher syndrome type 1 : Exclusion results from the usher syndrome consortium. In: Genomics. 1992 ; Vol. 14, No. 3. pp. 707-714.
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