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Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Otolaryngology and Head and Neck Surgery.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Otolaryngology and Head and Neck Surgery.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2010 (English)In: Journal of Human Genetics, ISSN 1434-5161, E-ISSN 1435-232X, Vol. 55, no 12, 834-837 p.Article in journal (Refereed) Published
Abstract [en]

Meniere's disease (MD) is a disorder of the inner ear characterized by episodes of vertigo, tinnitus and fluctuating sensorineural hearing loss. Most MD cases are sporadic, but 5-15% of patients are familial following an autosomal dominant mode of inheritance with incomplete penetrance. We have previously identified a candidate gene region for MD on chromosome 12p12.3 using linkage analysis. We genotyped 15 Swedish families segregating familial MD (FMD) to further clarify the role of chromosome 12p in a larger cohort of families. Highly polymorphic marker loci were analyzed over the 16-Mb candidate region in affected and healthy family members as well as in control subjects. The results revealed allelic association between FMD and several individual polymorphic marker alleles and single-nucleotide polymorphisms. Moreover, a common three-marker haplotype spanning 1.48 Mb co-segregates with FMD in 60% of the families investigated, forming the core of a possible ancestral haplotype associated with FMD in Sweden.

Place, publisher, year, edition, pages
2010. Vol. 55, no 12, 834-837 p.
Keyword [en]
association, chromosome 12, linkage, Meniere's disease
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-140263DOI: 10.1038/jhg.2010.122ISI: 000285545000010PubMedID: 20927121OAI: oai:DiVA.org:uu-140263DiVA: diva2:383334
Available from: 2011-01-04 Created: 2011-01-04 Last updated: 2017-12-11Bibliographically approved

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Dahl, NiklasKlar, Joakim

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