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July 1, 1993Proceedings of the National Academy of SciencesOpen Access

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.

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Population

Three families with familial hypertrophic cardiomyopathy. Family MZ has mild cardiac hypertrophy, Family MI…

Design

Other

Key result

Genetic linkage analysis mapped a novel locus (CMH3) responsible for familial hypertrophic cardiomyopathy to chromosome 15q2, yielding a maximum combined multipoint LOD score of 6.02 in two kindreds.

Authors

LTLudwig ThierfelderCMCalum A. MacRaeHWHugh Watkins

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Overview

Does not change HCM management; extends evidence of genetic heterogeneity beyond known loci.

Key Points

  • The study aims to identify the genetic locus responsible for familial hypertrophic cardiomyopathy in specific families.
  • Analyzed gene location for familial hypertrophic cardiomyopathy on chromosome 15q2.
  • Studied multiple families with hypertrophic cardiomyopathy for linkage analysis.
  • The maximum combined multipoint logarithm of odds score is 6.02 in two linked families.
  • Mutation in the 15q2 locus observed in two families with differences in clinical presentation.

Study Design

Type

Observational

Structured PICO

P
Population
Three families (MZ, MI, and D) with familial hypertrophic cardiomyopathy (FHC). Family MZ has mild cardiac hypertrophy, Family MI has profound cardiac hypertrophy, and Family D has typical FHC.
I
Intervention
Genetic linkage analysis using short tandem repeat (STR) polymorphisms
O
Outcome
Chromosomal location of the gene responsible for FHC (Logarithm of odds [LOD] scores)surrogate

A novel genetic locus for familial hypertrophic cardiomyopathy, CMH3, maps to chromosome 15q2, demonstrating substantial genetic heterogeneity in the disease.

Limitations

  • Clinical assessment of family MZ was complicated by the absence of echocardiographic manifestations of cardiac hypertrophy in 50% of affected individuals.

Cite This Study

Thierfelder et al. (1993) conducted an observational in Familial hypertrophic cardiomyopathy. Genetic linkage analysis (Chromosome 15q2) was evaluated on Maximum combined multipoint logarithm of odds (LOD) score for linkage to chromosome 15q2. Genetic linkage analysis mapped a novel locus (CMH3) responsible for familial hypertrophic cardiomyopathy to chromosome 15q2, yielding a maximum combined multipoint LOD score of 6.02 in two kindreds.

synapsesocial.com/papers/6a156048a2352da347825745https://doi.org/10.1073/pnas.90.13.6270
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