A Meniere's disease gene linked to chromosome 12p12.3.
Meniere's disease (MD) is characterized by spontaneous attacks of vertigo, fluctuating sensorineural hearing loss, tinnitus, and aural fullness. The majority of patients with MD appear sporadic but 5%-13% of the cases have a family history for the disease. The cause of both the sporadic and inherited forms of MD remains unclear despite a number of candidate genes defined from their association with hearing loss. We have performed a genome wide linkage scan on a large Swedish family segregating MD in five generations. Five candidate regions with a lod score of >1 were identified. Two additional families with autosomal dominant MD were analyzed for linkage to these regions and a cumulative Z(max) of 3.46 was obtained for a single region on chromosome 12p. In two of the three families, a shared haplotype was found to extend over 1.7 Mb which suggests a common ancestral origin. Within this region, a single recombination event restricts the candidate region to 463 kb.
Klar
Joakim
J
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Frykholm
Carina
C
Friberg
Ulla
U
Dahl
Niklas
N
D002874:Chromosome Mapping / Q000379:methods*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008575:Meniere Disease / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D021122:Protein Subunits / Q000235:genetics
D021122:Protein Subunits; D019869:Phosphatidylinositol 3-Kinases