Document Detail

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