title: Microsatellite marker analysis in the treatment and diagnosis of familial hypertrophic cardiomyopathy.
abstract: Familial hypertrophic cardiomyopathy (FHCM) is characterized by an autosomal dominant transmission, left ventricular hypertrophy and myocardial disorganization. So far, 13 genetic loci and more than 130 mutations in ten different genes have been identified. Recent study suggested impaired force production associated with inefficient use of ATP as the main disease mechanism. We performed haplotype analysis with the use of microsatellite markers linked with beta-myosin heavy chain, troponin T, alpha-tropomyosin and cardiac myosin protein C genes in three Polish families with hypertrophic cardiomyopathy (23 individuals). This method is based on the analysis of distribution of the disease in the family and the alleles of chosen microsatellite markers. In two families, the disease was associated with beta-myosin heavy chain gene. We also found a genetic carrier of the mutated gene among children of the patients. In one family the connection of the disease with the mutation in alpha-tropomyosin gene was confirmed, no sudden cardiac deaths were recorded and the degree of myocardial hypertrophy was small.
authors.affiliation: Department of Biochemistry, Medical University of Silesia, Narcyzów 1, 41-200 Sosnowiec, Poland.
authors.forename: Sławomir
authors.initials: S
authors.lastname: Smolik
authors.forename: Dorota
authors.initials: D
authors.lastname: Domal-Kwiatkowska
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Kapral
authors.forename: Ludmiła
authors.initials: L
authors.lastname: Weglarz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D024722:Cardiac Myosins; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011044:Poland; D011237:Predictive Value of Tests; D016896:Treatment Outcome; D014335:Tropomyosin / Q000235:genetics*; D020107:Troponin T / Q000235:genetics; D055815:Young Adult; D000099163:Myosin Binding Protein C
chemical_list: D024722:Cardiac Myosins; D002352:Carrier Proteins; D005819:Genetic Markers; D018995:Myosin Heavy Chains; D014335:Tropomyosin; D020107:Troponin T; D000099163:Myosin Binding Protein C; C501641:MYH7 protein, human; C490775:TPM1 protein, human