| Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association. | |
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MedLine Citation:
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PMID: 20927121 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. |
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Authors:
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Dana Gabriková; Carina Frykholm; Ulla Friberg; Sara Lahsaee; Miriam Entesarian; Niklas Dahl; Joakim Klar |
Publication Detail:
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Type: Journal Article Date: 2010-10-07 |
Journal Detail:
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Title: Journal of human genetics Volume: 55 ISSN: 1435-232X ISO Abbreviation: J. Hum. Genet. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-12-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9808008 Medline TA: J Hum Genet Country: Japan |
Other Details:
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Languages: eng Pagination: 834-7 Citation Subset: IM |
Affiliation:
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Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds Väg 20, Uppsala, Sweden. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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