The Cardiac Troponin I Gene Is Not Associated with Hypertrophic Cardiomyopathy in Patients From Eastern Finland
| Autor: | Raija Miettinen, Pertti Jääskeläinen, Markku Laakso, Johanna Kuusisto, Ilkka Vauhkonen, Karoliina Silvennoinen |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Male
Pathology medicine.medical_specialty Polymerase Chain Reaction law.invention Exon Polymorphism (computer science) law Troponin I Humans Medicine Family Molecular Biology Gene Finland Polymorphism Single-Stranded Conformational Polymerase chain reaction Genetics business.industry Myocardium Intron Hypertrophic cardiomyopathy Genetic Variation Exons Cardiomyopathy Hypertrophic Middle Aged medicine.disease Introns Echocardiography Female MYH6 Cardiology and Cardiovascular Medicine business |
| Zdroj: | Journal of Molecular and Cellular Cardiology. 31:2031-2036 |
| ISSN: | 0022-2828 |
| Popis: | 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 caused by defects in this gene is unknown. Therefore, the authors screened 37 unrelated Finnish patients with hypertrophic cardiomyopathy for variants in the cardiac troponin I gene. Exons 1–8 of the troponin I gene were screened with the polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) method. Five different variants (four intron variants and one silent exon variant) were found. Most variants were also present in control samples and none of the variants co-segregated with the disease in families. The results of the present study indicate that defects in the cardiac troponin I gene do not cause hypertrophic cardiomyopathy in patients from Eastern Finland. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect