Usefulness of microsatellite markers in identification of family members carrying a mutation of the b-myosin heavy chain gene in families with hypertrophic cardiomyopathy

• Authors: S. Smolik , Domal-Kwiatkowska D. Domal-Kwiatkowska , D. Domal-Kwiatkowska , Mazurek U. Mazurek , U. Mazurek , Moric E. Moric , E. Moric , Nowalany-Kozielska E. Nowalany-Kozielska , E. Nowalany-Kozielska , Glanowska G. Glanowska , G. Glanowska , Kozakiewicz K. Kozakiewicz , K. Kozakiewicz , Wodniecki J. Wodniecki , J. Wodniecki , Tendera M. Tendera , M. Tendera , Wilczok T. Wilczok , T. Wilczok
• Languages of publication: EN

Abstracts

EN

Familial hypertrophic cardiomyopathy (FHC) is characterised by autosomal dominant transmission, left ventricular hypertrophy and myocardial disarray. Genetic assessment is of special importance in this disease. Missense mutations of the gene coding for the b-myosin heavy chain (bMHC) have been identified as statistically the most important cause of the disease. Identification of specific mutations may be difficult, thus a simpler method of disease carrier identification is needed. We performed haplotype analysis of six Polish families (47 individuals) with three microsatellite markers located at the bMHC locus. Linkage of the disease locus to the bMHC gene was excluded in 4 out of the 6 families analysed. In 2 families particular haplotypes were coinherited with the disease phenotype. Microsatellite markers allowed identification of 2 carriers of the disease gene in these families among children of the patients.

Keywords

EN

HEAVY CHAIN GENE; HYPERTROPHIC CARDIOMYOPATHY; LINKAGE ANALYSIS; MICROSATELLITE; MYOSIN

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2000
• Volume: 41
• Issue: 3
• Pages: 199-208

Contributors

author

S. Smolik

author

Domal-Kwiatkowska D. Domal-Kwiatkowska

author

D. Domal-Kwiatkowska

author

Mazurek U. Mazurek

author

U. Mazurek

author

Moric E. Moric

author

E. Moric

author

Nowalany-Kozielska E. Nowalany-Kozielska

author

E. Nowalany-Kozielska

author

Glanowska G. Glanowska

author

G. Glanowska

author

Kozakiewicz K. Kozakiewicz

author

K. Kozakiewicz

author

Wodniecki J. Wodniecki

author

J. Wodniecki

author

Tendera M. Tendera

author

M. Tendera

author

Wilczok T. Wilczok

author

T. Wilczok

• Document Type: ARTICLE
• Publication order reference: T. Wilczok, Department of Molecular Biology, Biochemistry and Biopharmacy ul. Narcyzow 1, 41-206 Sosnowiec, Poland.