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Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41
Örebro University, School of Health and Medical Sciences.ORCID iD: 0000-0001-6557-6359
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1995 (English)In: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 56, no 1, 216-223 p.Article in journal (Refereed) Published
Abstract [en]

Usher syndrome type II is associated with hearing loss and retinitis pigmentosa but not with any vestibular problems. It is known to be genetically heterogeneous, and one locus (termed USH2A) has been linked to chromosome 1q41. In an effort to refine the localization of USH2A, the genetic map of the region between and adjacent to the marker loci previously recognized as flanking USH2A (D1S70 and PPOL) is updated. Analysis of marker data on 68 Usher II families places the USH2A gene into a 2.1-cM region between the markers D1S237 and D1S229. The gene for transforming growth factor β2 (TGFB2) and the gene for the homeodomain box (HLX1) are both eliminated as candidates for USH2A, by virtue of their localization outside these flanking markers. The earlier finding of genetic heterogeneity was confirmed in six new families, and the proportion of unlinked Usher II families is estimated at 12.5%. The placement of the USH2A gene into this region will aid in the physical mapping and isolation of the gene itself.

Place, publisher, year, edition, pages
1995. Vol. 56, no 1, 216-223 p.
National Category
Medical and Health Sciences
Research subject
Medicine
Identifiers
URN: urn:nbn:se:oru:diva-10145OAI: oai:DiVA.org:oru-10145DiVA: diva2:305066
Available from: 2010-03-22 Created: 2010-03-22 Last updated: 2016-12-16Bibliographically approved

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801344/

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