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Third-party-funded project

Identification of mutations in inherited dilated cardiomypopathies

Project management at the University of Würzburg:

Participating scientists:

Dilated cardiomyopathy is one form of cardiac insufficiency that is familial in 20 - 35 % of all cases. The disease is inherited in a mendelian mode but it is genetically extremely heterogeneous. Genetic linkage studies in individual families have identified 16 single DCM loci, but only six disease genes have been positionally cloned as yet. Most of the known genes encode proteins of the cytoskeleton and the nuclear membrane. It is reasonable to recruit more families with DCM, firstly to identify all possible disease genes that may cause DCM, and secondly, to aid cloning of DCM genes in already known loci.
We recruited three new DCM families suitable for genetic linkage analysis. In a first step we shall test genetic linkage to any of the known DCM loci in each family. In the case of exclusion we shall start a genotyping analysis of the complete genome using a set of approx. 400 microsatellite markers. Having established a new DCM locus the responsible gene will be identified by positional cloning.

Key words:
    Dilated Cardiomyopathy
    Genetic linkage analysis
    DCM genes

Projekt period: from 03.2002 to 02.2003

Funding institution:
DFG ,Granting date: 21.02.2002