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Three pedigrees were identified in which mitral valve prolapse seemed to be inherited as a mendelian autosomal dominant trait. The segregation of the genes encoding the major fibrillar collagens present in valve tissue, collagens I and III, was analysed by use of restriction enzyme site variants as genetic markers. In one pedigree there was discordance between the segregation of the disease and markers for all three collagen genes. In another, there was discordance between the disease and markers for both collagen I loci. This is evidence against the disease being generally the result of mutations of the genes encoding the major fibrillar collagens.

Original publication

DOI

10.1136/hrt.61.3.300

Type

Journal article

Journal

Br heart j

Publication Date

03/1989

Volume

61

Pages

300 - 306

Keywords

Collagen, Female, Genes, Genetic Linkage, Genetic Markers, Genotype, Humans, Male, Mitral Valve Prolapse, Pedigree, Phenotype