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Localization of Usher syndrome type II to chromosome 1q
Örebro University, School of Health and Medical Sciences.ORCID iD: 0000-0001-6557-6359
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1990 (English)In: Genomics, ISSN 0888-7543, E-ISSN 1089-8646, Vol. 7, no 2, 245-249 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
1990. Vol. 7, no 2, 245-249 p.
National Category
Medical and Health Sciences
Research subject
Medicine
Identifiers
URN: urn:nbn:se:oru:diva-9925DOI: 10.1016/0888-7543(90)90546-7OAI: oai:DiVA.org:oru-9925DiVA: diva2:302631
Available from: 2010-03-08 Created: 2010-03-08 Last updated: 2016-12-16Bibliographically approved

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