November 16, 1989New England Journal of Medicine
Mapping a Gene for Familial Hypertrophic Cardiomyopathy to Chromosome 14q1
Key result
Genetic-linkage analysis mapped the gene responsible for familial hypertrophic cardiomyopathy to chromosome 14 (band q1) with a lod score of +9.37.
Population
102 members of a large kindred, including 20 surviving and 24 deceased members with familial hypertrophic…
Design
Other
Authors
Discussion
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Implication
Supports locus-specific evaluation in familial HCM; leaves open causal variant identification and clinical translation.
Key Points
- To identify the specific chromosomal location of the gene responsible for familial hypertrophic cardiomyopathy.
- Evaluated a large kindred consisting of 44 affected members (20 surviving, 24 deceased) and 58 unaffected surviving relatives using clinical and molecular genetic techniques.
- Performed genome-wide genetic linkage analysis using polymorphic DNA loci and calculated lod scores to assess the probability of coinheritance.
- Identified coinheritance between familial hypertrophic cardiomyopathy and the polymorphic DNA locus D14S26 located on chromosome 14 (band q1).
- Observed zero instances of recombination between the disease locus and D14S26, producing a maximum lod score of +9.37 at theta = 0, reflecting odds greater than 2,000,000,000:1 in favor of linkage.
Study Design
Type
Observational (n=102)
Structured PICO
P
Population
102 members of a large kindred, including 20 surviving and 24 deceased members with familial hypertrophic cardiomyopathy, and 58 surviving unaffected members.
I
Intervention
Genetic-linkage analyses using polymorphic DNA loci
O
Outcome
Chromosomal location of the gene responsible for familial hypertrophic cardiomyopathysurrogate
Main Result
Effect estimate: lod score +9.37
This study provides the first evidence mapping a gene responsible for familial hypertrophic cardiomyopathy to chromosome 14q1.
Cite This Study
Jarcho et al. (1989) conducted an observational in Familial hypertrophic cardiomyopathy (n=102). Genetic-linkage analysis mapped the gene responsible for familial hypertrophic cardiomyopathy to chromosome 14 (band q1) with a lod score of +9.37.