Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 45 3 2016 03 15 329 339 Hoorieh SAGHAFI Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran Majid HAGHJOO Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran Sima SABBAGH Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran Niloofar SAMIEE Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran Farve VAKILIAN Preventive Cardiovascular Care Research Center, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran Mohammad TAGHI SALEHI OMRAN Roohani Hospital, Babol University of Medical Sciences, Bobol, Iran Masoomeh DADASHI Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran Ahmad AMIN Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran Mohammad KERAMATIPOUR Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran 2016 03 15 2016 03 15 Background: Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding cardiac sarcomere 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 linkage 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.     https://ijph.tums.ac.ir/index.php/ijph/article/view/6265 https://ijph.tums.ac.ir/index.php/ijph/article/download/6265/5327