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Helen Donis-Keller

2011

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Full-Text Articles in Life Sciences

Mapping A Gene For Familial Hypertrophic Cardiomyopathy To Chromosome 14q1, John Jarcho, William Mckenna, J.A. Peter Pare, Scott Solomon, Randall Holcombe, Shaughan Dickie, Tatjana Levi, Helen Donis-Keller, J.G. Seidman, Christine Seidman Nov 2011

Mapping A Gene For Familial Hypertrophic Cardiomyopathy To Chromosome 14q1, John Jarcho, William Mckenna, J.A. Peter Pare, Scott Solomon, Randall Holcombe, Shaughan Dickie, Tatjana Levi, Helen Donis-Keller, J.G. Seidman, Christine Seidman

Helen Donis-Keller

To identify the chromosomal location of a gene responsible for familial hypertrophic cardiomyopathy, we used clinical and molecular genetic techniques to evaluate the members of a large kindred. Twenty surviving and 24 deceased family members had hypertrophic cardiomyopathy; 58 surviving members were unaffected. Genetic-linkage analyses were performed with polymorphic DNA loci dispersed throughout the entire genome, to identify a locus that was inherited with hypertrophic cardiomyopathy in family members. The significance of the linkage detected between the disease locus and polymorphic loci was assessed by calculating a lod score (the logarithm of the probability of observing coinheritance of two loci, …