Author/Authors :
SAGHAFI, Hoorieh Dept. of Medical Genetics - Tehran University of Medical Sciences, Tehran , HAGHJOO, Majid Rajaie Cardiovascular Medical and Research Center - Tehran University of Medical Sciences, Tehran , SABBAGH, Sima Dept. of Medical Genetics - Tehran University of Medical Sciences, Tehran , SAMIEE, Niloofar Rajaie Cardiovascular Medical and Research Center - Tehran University of Medical Sciences, Tehran , VAKILIAN, Farve Preventive Cardiovascular Care Research Center - Imam Reza Hospital - Mashhad University of Medical Sciences, Mashhad , SALEHI OMRAN, Mohammad Taghi Roohani Hospital - Babol University of Medical Sciences, Bobol , DADASHI, Masoomeh Rajaie Cardiovascular Medical and Research Center - Tehran University of Medical Sciences, Tehran , AMIN, Ahmad Rajaie Cardiovascular Medical and Research Center - Tehran University of Medical Sciences, Tehran , KERAMATIPOUR, Mohammad Dept. of Medical Genetics - Tehran University of Medical Sciences, Tehran
Abstract :
Background: Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding cardiac sarco-mere proteins. Nowadays genetic testing of HCM plays an important role in clinical practice by contributing to the diagnosis, prognosis, and screening of high-risk individuals. The aim of this study was developing a reliable testing strategy for HCM based on linkage analysis and appropriate for Iranian population.
Methods: Six panels of four microsatellite markers surrounding MYH7, MYBPC3, TNNT2, TNNI3, TPM1, and MYL2 genes (24 markers in total) were selected for multiplex PCR and fragment length analysis. Characteristics of markers and informativeness of the panels were evaluated in 50 unrelated Iranians. The efficacy of the strategy was verified in a family with HCM.
Results: All markers were highly polymorphic. The panels were informative in 96-100% of samples. Multipoint lin-kage analysis excluded the linkage between the disease and all six genes by obtaining maximum LOD score ≤-2.
Conclusion: This study suggests a reliable genetic testing method based on linkage analysis between 6 sarcomere genes and familial HCM. It could be applied for diagnostic, predictive, or screening testing in clinical setting.
Keywords :
Cardiomyopathy , Hypertrophic , Genetic linkage , Diagnosis
