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Localization of Ush...
Localization of Usher syndrome type II to chromosome 1q
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Kimberling, William J. (author)
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Weston, Michael D. (author)
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- Möller, Claes, 1950- (author)
- Örebro universitet,Hälsoakademin
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Davenport, Sandra L. (author)
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Shugart, Yin Y. (author)
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Priluck, Ira A. (author)
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Martini, Alessandro (author)
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Milani, Massimo (author)
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Smith, Richard J. (author)
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(creator_code:org_t)
- Elsevier BV, 1990
- 1990
- English.
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In: Genomics. - : Elsevier BV. - 0888-7543 .- 1089-8646. ; 7:2, s. 245-249
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- 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.
Keyword
- Medicine
- Medicin
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- ref (subject category)
- art (subject category)
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Genomics
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- By the author/editor
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Kimberling, Will ...
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Weston, Michael ...
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Möller, Claes, 1 ...
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Davenport, Sandr ...
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Shugart, Yin Y.
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Priluck, Ira A.
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show more...
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Martini, Alessan ...
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Milani, Massimo
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Smith, Richard J ...
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show less...
- Articles in the publication
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Genomics
- By the university
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Örebro University