Journal article
Localization of two genes for usher syndrome type I to chromosome 11
Genomics (San Diego, Calif.), Vol.14(4), pp.995-1002
1992
DOI: 10.1016/S0888-7543(05)80122-3
PMID: 1478678
Abstract
The Usher syndromes (USH) are autosomal recessive diseases characterized by congenital sensorineural hearing loss and progressive pigmentary retinopathy. While relatively rare in the general population, collectively they account for approximately 6% of the congenitally deaf population. Usher syndrome type II (USH2) has been mapped to chromosome 1q (
W. J. Kimberling, M. D. Weston, C. Möller,
et al., 1990,
Genomics 7: 245–249;
R. A. Lewis, B. Otterud, D. Stauffer,
et al., 1990
,
Genomics 7: 250–256), and one form of Usher syndrome type I (USH1) has been mapped to chromosome 14q (J. Kaplan, S. Gerber, D. Bonneau, J. Rozet, M. Briord, J. Dufier, A. Munnich, and J. Frezal, 1990,
Cytogenet. Cell Genet. 58: 1988). These loci have been excluded as regions of USH genes in our data set, which is composed of 8 French-Acadian USH1 families and 11 British USH1 families. Both of these sets of families show linkage to loci on chromosome 11. Linkage analysis demonstrates locus heterogeneity between these sets of families, with the French-Acadian families showing linkage to D11S419 (
Z = 4.20,
ϑ = 0) and the British families showing linkage to D11S527 (
Z = 6.03,
ϑ = 0). Genetic heterogeneity of the data set was confirmed using HOMOG and the
M test (log likelihood ratio > 10
5). These results confirm the presence of two distinct USH1 loci on chromosome 11.
Details
- Title: Subtitle
- Localization of two genes for usher syndrome type I to chromosome 11
- Creators
- Richard J.H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa, USAElizabeth C Lee - University of IowaWilliam J Kimberling - Boys Town National Research Hospital, University of Texas Health Sciences Center, Houston, USAStephen P Daiger - Department of Genetics, University of Texas Health Sciences Center, Houston, USAMary Z Pelias - Department of Biometry and Genetics, Louisiana State University Medical Center, USABronya J.B Keats - Department of Biometry and Genetics, Louisiana State University Medical Center, USAMarcelle Jay - Institute of Ophthalmology and Moorfields Eye Hospital, London, EnglandAlan Bird - Institute of Ophthalmology and Moorfields Eye Hospital, London, EnglandWilliam Reardon - Mothercare Department of Child Health, Institute of Child Health, London, EnglandMary Guest - Usher Syndrome Project, SENSE, London, EnglandRadha Ayyagari - National Eye Institute, National Institutes of Health, USAJ Fielding Hejtmancik - National Eye Institute, National Institutes of Health, USA
- Resource Type
- Journal article
- Publication Details
- Genomics (San Diego, Calif.), Vol.14(4), pp.995-1002
- DOI
- 10.1016/S0888-7543(05)80122-3
- PMID
- 1478678
- 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
- 9984006301402771
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