The cardiac troponin I gene is not associated with hypertrophic cardiomyopathy in patients from eastern Finland

Defects in seven genes encoding sarcomere proteins have been shown to cause hypertrophic cardiomyopathy. To date, only one study reporting defects in the cardiac troponin I gene associated with hypertrophic cardiomyopathy has been published, and the proportion of hypertrophic cardiomyopathy cases ca used by defects in this gene is unknown. Therefore, the authors screened 37 unrelated Finnish patients with hypertrophic cardiomyopathy for Variants i n the cardiac troponin I gene. Exons 1-8 of the troponin I gene were screen ed with the polymerase chain reaction single-strand conformation polymorphi sm (PCR-SSCP) method, Five different variants (four intron Variants and one silent exon variant) were found. Most variants were also present in contro l samples and none of the variants co-segregated with the disease in famili es. The results of the present study indicate that defects in the cardiac t roponin I gene do not cause hypertrophic cardiomyopathy in patients from Ea stern Finland, (C) 1999 Academic Press.