Journal article
Localization of Usher syndrome type II to chromosome 1q
Genomics (San Diego, Calif.), Vol.7(2), pp.245-249
1990
DOI: 10.1016/0888-7543(90)90546-7
PMID: 2347588
Abstract
Usher syndrome is characterized by congenital hearing loss, progressive visual impairment due to retinitis pigmentosa, and variable vestibular problems. The two subtypes of Usher syndrome, types I and II, can be distinguished by the degree of hearing loss and by the presence or absence of vestibular dysfunction. Type I is characterized by a profound hearing loss and totally absent vestibular responses, while type II has a milder hearing loss and normal vestibular function. Fifty-five members of eight type II Usher syndrome families were typed for three DNA markers in the distal region of chromosome 1q: D1S65 (pEKH7.4), REN (pHRnES1.9), and D1S81 (pTHH33). Statistically significant linkage was observed for Usher syndrome type II with a maximum multipoint lod score of 6.37 at the position of the marker THH33, thus localizing the Usher type II (USH2) gene to 1q. Nine families with type I Usher syndrome failed to show linkage to the same three markers. The statistical test for heterogeneity of linkage between Usher syndrome types I and II was highly significant, thus demonstrating that they are due to mutations at different genetic loci.
Details
- Title: Subtitle
- Localization of Usher syndrome type II to chromosome 1q
- Creators
- William J Kimberling - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131 USAMichael D Weston - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131 USAClaes Möller - Department of Otolaryngology, University of Linköping, SwedenSandra L.H Davenport - Bloomington, Minnesota, USAYin Y Shugart - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131 USAIra A Priluck - Department of Ophthalmology, Creighton University School of Medicine, Omaha, Nebraska 68131 USAAlessandro Martini - ENT Department, Medical School, University of Padua, 35128 Padua, ItalyMassimo Milani - ENT Department, Medical School, University of Padua, 35128 Padua, ItalyRichard J Smith - Department of Otorhinolaryngology, Baylor College of Medicine, Houston, Texas 55437 USA
- Resource Type
- Journal article
- Publication Details
- Genomics (San Diego, Calif.), Vol.7(2), pp.245-249
- DOI
- 10.1016/0888-7543(90)90546-7
- PMID
- 2347588
- NLM abbreviation
- Genomics
- ISSN
- 0888-7543
- eISSN
- 1089-8646
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 1990
- 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
- 9984006488302771
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