A New Locus for Arrhythmogenic Right Ventricular Dysplasia on the Long Arm of Chromosome 14

Autor: Gianfranco Sinagra, Arturo Falaschi, Maja Krajinovic, Mauro Giacca, Luisa Mestroni, Giovanni Maria Severini, Paolo Fioretti, Bruno Pinamonti, Fulvio Camerini, Maria Cristiana Brunazzi
Přispěvatelé: G. M., Severini, M., Krajinovic, B., Pinamonti, Sinagra, Gianfranco, P., Fioretti, M. C., Brunazzi, A., Falaschi, F., Camerini, Giacca, Mauro, L., Mestroni
Rok vydání: 1996
Předmět:
Adult
Male
genetics
Female
Gene
Adolescent
Ventricular Dysfunction
Right
Adolescent
Adult
Aged
Aged
80 and over
Cardiomyopathies
genetics
Child
Chromosome Mapping
Chromosomes
Human
Pair 14
genetics
Female
Genes
Dominant
genetics
Humans
Male
Middle Aged
Pedigree
Tachycardia
Ventricular
genetics
Ventricular Dysfunction
Right
genetics
Cardiomyopathy
Locus (genetics)
Biology
Chromosomes
Right ventricular cardiomyopathy
Gene mapping
Genetic linkage
Tachycardia
80 and over
Ventricular Dysfunction
Genetics
medicine
Humans
Child
Aged
Genes
Dominant
Aged
80 and over
Chromosomes
Human
Pair 14
Genetic heterogeneity
Chromosome Mapping
Middle Aged
medicine.disease
genetics
Child
Chromosome Mapping
Chromosome
Pedigree
Arrhythmogenic right ventricular dysplasia
Genes
Dysplasia
80 and over
Cardiomyopathie
Tachycardia
Ventricular
Female
Cardiomyopathies
Zdroj: Genomics. 31:193-200
ISSN: 0888-7543
DOI: 10.1006/geno.1996.0031
Popis: Familial arrhythmogenic right ventricular cardiomyopathy or dysplasia (ARVD) is an idiopathic heart muscle disease with an autosomal-dominant pattern of transmission, characterized by fibro-fatty replacement of the right ventricular myocardium and ventricular arrhythmias. Recently, linkage to the chromosome 14q23–q24 (locus D14S42) has been reported in two families. In the present study, three unrelated families with ARVD were investigated. According to strict diagnostic criteria, 13 of 37 members were considered to be affected. Linkage to the D14S42 locus was excluded. On the other hand, linkage was found in the region 14q12–q22 in all three families (cumulative two-point lod score is 3.26 for D14S252), with no recombination between the detected locus and the disease gene. With multipoint linkage analysis, a maximal cumulative lod score of 4.7 was obtained in the region between loci D14S252 and D14S257. These data indicate that a novel gene causing familial ARVD (provisionally named ARVD2) maps to the long arm of chromosome 14, thus supporting the hypothesis of genetic heterogeneity in this disease.
Databáze: OpenAIRE
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