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2 Journal of Applied Genetics

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Three novel mutations in exon 21 encoding b-cardiac myosin heavy chain

100%

Moric E. , Mazurek U. , Polonska J. , Domal-Kwiatkowska D. , Smolik S. , Kozakiewicz K. , Tendera M. , Wilczok T.

tom 44

nr 1

103-109

Familial hypertrophic cardiomyopathy has a complex multigenic background. Previous work allowed to determine one of the gene loci responsible for this disease on chromosome 14 band q11-q12, and linked it to the a and b-cardiac myosin heavy chains. In this study we demonstrate changes in exon 21, coding for b-myosin heavy chain. We described 4 patients from different families with an unequivocal diagnosis of hypetrophic cardiomyopathy based on the clinical picture. Direct sequencing of exon 21 revealed the presence of 5 novel mutations. Two of the mutations in codons 771 and 781 revealed in our study did not result in any changes in amino acid sequence. The next three were as follows: in codon 782 (AGC > GAC) transition responsible for Ser?Asp substitution; in codon 779 (GAG > TAG) mutation that results in replacement of Glu?Stop; in codon 774 (GAG > GTG) which is expressed as substitution of Glu?Val. These mutations are located close to mutations identified and described in the literature, so they are likely to cause similar sumptoms.

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

71%

Smolik S. , Domal-Kwiatkowska D.-K. D. , Domal-Kwiatkowska D. , Mazurek M. U. , Mazurek U. , Moric M. E. , Moric E. , Nowalany-Kozielska N.-K. E. , Nowalany-Kozielska E. , Glanowska G. G. , Glanowska G. , Kozakiewicz K. K. , Kozakiewicz K. , Wodniecki W. J. , Wodniecki J. , Tendera T. M. , Tendera M. , Wilczok W. T. , Wilczok T.

nr 3

199-208

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.