01501-A: Evaluation of candidate genes for X -- linked dilated cardiomyopathy in the Great Dane
Grant Status: Closed
Project SummaryDilated cardiomyopathy, a primary heart muscle disorder characterized by poor cardiac function, is inherited in the Great Dane and there has been some preliminary information that at least in some cases, it may be inherited on the X chromosome. This is consistent with the observation that at least in some families, male Great Danes appear to be more frequently affected. In people, this disease is also associated with genetic mutations of genes carried on the X chromosome. In this study, the investigators evaluated two X chromosome genes known to cause dilated cardiomyopathy in human beings for genetic mutations in the Great Dane. Unfortunately they did not identify any genetic mutations in these genes that could be consistent with the development of the disease. Although their approach, the candidate gene analysis, can be a less expensive approach to identification of causative mutations, it does not always successfully identify a mutation (as in this case). Further studies including high throughput sequencing or array analysis may be considered in the future although these type of studies tend to be much more expensive. Some of this work is already on occurring with another study in Europe.
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