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Mapping a Gene for Familial Hypertrophic Cardiomyopathy to Chromosome 14q1

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Title

Mapping a Gene for Familial Hypertrophic Cardiomyopathy to Chromosome 14q1

Author(s)

Jarcho, John A.
McKenna, William
St. George's Hospital Medical School, London
Pare, J.A. Peter
Royal Victoria Hospital, Montreal
Solomon, Scott D.
Holcombe, Randall F.
Dickie, Shaughan
St. George's Hospital Medical School, London
Levi, Tatjana
Donis-Keller, Helen
Seidman, J.G.

Description

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, assuming that they are genetically linked, divided by the probability of detecting coinheritance if they are unlinked). A DNA locus (D14S26), previously mapped to chromosome 14 and of unknown function, was found to be coinherited with the disease in this family. No instances of recombination were observed between the locus for familial hypertrophic cardiomyopathy and D14S26, yielding a lod score of +9.37 (θ= 0). These data indicate that in this kindred, the odds are greater than 2,000,000,000:1 that the gene responsible for familial hypertrophic cardiomyopathy is located on chromosome 14 (band q1).

Date Published

2018-03-26 15:13:02

Files

  • Download HDK_Mapping_Familial.pdf

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