Genetic linkage analysis excludes HLA and several other potential candidates as being responsible for familial dilated cardiomyopathy

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134687

Durand, J B; Bachinski, L L; Beiling, L ^[1]

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1. Baylor College of Medicine, Houston, TX (United States); and others

Familial dilated cardiomyopthy (FDCM), manifested by ventricular dilation and decreased systolic function, is inherited as an autosomal dominant trait. We identified a family segregating DCM with 11 affected living individuals in whom the diagnosis was confirmed by echocardiography (EF <50%, left ventricular volume >80 ml/m{sup 2}). DNA was extracted and analyzed with highly polymorphmic microsatellite markers (STRs). In view of the high frequency of antibodies to specific HLA proteins in FDCM, this region was selected as a possible candidate locus. Genes whose products are sarcomeric proteins were also selected as candidates. Genetic linkage of FDCM to these candidate genes was excluded on the basis of a LOD score of <= -2. Subsequent to the candidate gene approach we pursued random mapping and completed analysis of a total of 93 chromosomal markers excluding 1000 cM.

• OSTI ID: 134687
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CARDIOVASCULAR DISEASES
DIAGNOSIS
DOMINANT MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOMES
PATIENTS
PROTEINS
STATISTICS