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Localization of Ush...
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Kimberling, William J.
(author)
Localization of Usher syndrome type II to chromosome 1q
- Article/chapterEnglish1990
Publisher, publication year, extent ...
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Elsevier BV,1990
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:oru-9925
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https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-9925URI
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https://doi.org/10.1016/0888-7543(90)90546-7DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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.
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Added entries (persons, corporate bodies, meetings, titles ...)
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Weston, Michael D.
(author)
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Möller, Claes,1950-Örebro universitet,Hälsoakademin(Swepub:oru)cmr
(author)
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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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Örebro universitetHälsoakademin
(creator_code:org_t)
Related titles
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In:Genomics: Elsevier BV7:2, s. 245-2490888-75431089-8646
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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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Martini, Alessan ...
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Milani, Massimo
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Genomics
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Örebro University