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 Zmax 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

Nyckelord

1-Phosphatidylinositol 3-Kinase/genetics

Chromosome Mapping/*methods

Chromosomes; Human; Pair 12/*genetics

Family Health

Female

Genetic Predisposition to Disease/genetics

Genotype

Haplotypes

Humans

Linkage (Genetics)

Lod Score

Male

Meniere Disease/*genetics

Microsatellite Repeats/genetics

Pedigree

Protein Subunits/genetics

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)