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

• Autorzy: S. Smolik , Domal-Kwiatkowska D. , D. Domal-Kwiatkowska , Mazurek U. , U. Mazurek , Moric E. , E. Moric , Nowalany-Kozielska E. , E. Nowalany-Kozielska , Glanowska G. , G. Glanowska , Kozakiewicz K. , K. Kozakiewicz , Wodniecki J. , J. Wodniecki , Tendera M. , M. Tendera , Wilczok T. , T. Wilczok
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

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

• Czasopismo: Journal of Applied Genetics
• Rocznik: 2000
• Tom: 41
• Numer: 3
• Strony: 199-208

Twórcy

autor

S. Smolik

autor

Domal-Kwiatkowska D.

autor

D. Domal-Kwiatkowska

autor

Mazurek U.

autor

U. Mazurek

autor

Moric E.

autor

E. Moric

autor

Nowalany-Kozielska E.

autor

E. Nowalany-Kozielska

autor

Glanowska G.

autor

G. Glanowska

autor

Kozakiewicz K.

autor

K. Kozakiewicz

autor

Wodniecki J.

autor

J. Wodniecki

autor

Tendera M.

autor

M. Tendera

autor

Wilczok T.

autor

T. Wilczok

• Typ dokumentu: ARTICLE
• Bibliografia: T. Wilczok, Department of Molecular Biology, Biochemistry and Biopharmacy ul. Narcyzow 1, 41-206 Sosnowiec, Poland.