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Localization of Ush...
Localization of Usher syndrome type II to chromosome 1q
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Kimberling, William J. (författare)
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Weston, Michael D. (författare)
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- Möller, Claes, 1950- (författare)
- Örebro universitet,Hälsoakademin
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Davenport, Sandra L. (författare)
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Shugart, Yin Y. (författare)
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Priluck, Ira A. (författare)
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Martini, Alessandro (författare)
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Milani, Massimo (författare)
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Smith, Richard J. (författare)
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(creator_code:org_t)
- Elsevier BV, 1990
- 1990
- Engelska.
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Ingår i: Genomics. - : Elsevier BV. - 0888-7543 .- 1089-8646. ; 7:2, s. 245-249
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Nyckelord
- Medicine
- Medicin
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Genomics
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Till lärosätets databas
- Av författaren/redakt...
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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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visa fler...
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Martini, Alessan ...
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Milani, Massimo
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Smith, Richard J ...
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visa färre...
- Artiklar i publikationen
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Genomics
- Av lärosätet
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Örebro universitet