Localization of Usher syndrome type II to chromosome 1q

William J. Kimberling, Michael D. Weston, Claes Möller, Sandra L H Davenport, Yin Y. Shugart, Ira A. Priluck, Alessandro Martini, Massimo Milani, Richard J. Smith

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)245-249
Number of pages5
JournalGenomics
Volume7
Issue number2
DOIs
StatePublished - 1990
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Kimberling, W. J., Weston, M. D., Möller, C., Davenport, S. L. H., Shugart, Y. Y., Priluck, I. A., Martini, A., Milani, M., & Smith, R. J. (1990). Localization of Usher syndrome type II to chromosome 1q. Genomics, 7(2), 245-249. https://doi.org/10.1016/0888-7543(90)90546-7