[Research of markers for the genes of the heavy chain of cardiac beta-myosin and myosin binding protein C in relatives of patients with hypertrophic cardiomyopathy].
نویسندگان
چکیده
OBJECTIVE To study the molecular markers for the genes of the heavy chain of cardiac beta-myosin and the myosin binding protein C in relatives of carriers of hypertrophic cardiomyopathy. METHODS Twelve families who had anamnesis, physical exam, electrocardiogram, echocardiogram and blood collection for the genetic study through the chain reaction of polymerase. RESULTS From the 227 relatives, 25% were ill-taken, with 51% men, with an average age of 35+/-19 (2 to 95) years old. The genetic analysis showed a connection with the gene of the cardiac b-myosin in a family and, in another, a connection with the gene of the myosin-binding protein C. In five families, the connections with the two genes were excluded; in two, the connection with the gene of the myosin-binding protein C, but for the b-myosin gene the results were non-conclusive; in two families, the results were non-conclusive for both genes and in one the connection for the b-myosin gene was excluded. The results were non-conclusive for the gene of the myosin-binding protein C. CONCLUSION In our environment, other genes, different from those described in the literature, may prevail, or there are other genetic differences related to the origin of our population and/or environmental factors.
منابع مشابه
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.
Familial hypertrophic cardiomyopathy is a genetically heterogeneous autosomal dominant disease, caused by mutations in several sarcomeric protein genes. So far, seven genes have been shown to be associated with the disease with the beta-myosin heavy chain (MYH7) and the cardiac myosin binding protein C (MYBPC3) genes being the most frequently involved. We performed electrocardiography (ECG) and...
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عنوان ژورنال:
- Arquivos brasileiros de cardiologia
دوره 84 6 شماره
صفحات -
تاریخ انتشار 2005