title: Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Hoorieh
authors.initials: H
authors.lastname: Saghafi
authors.affiliation: Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Haghjoo
authors.affiliation: Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Sima
authors.initials: S
authors.lastname: Sabbagh
authors.affiliation: Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Niloofar
authors.initials: N
authors.lastname: Samiee
authors.affiliation: Preventive Cardiovascular Care Research Center, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Farve
authors.initials: F
authors.lastname: Vakilian
authors.affiliation: Roohani Hospital, Babol University of Medical Sciences, Bobol, Iran.
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Salehi Omran
authors.affiliation: Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Masoomeh
authors.initials: M
authors.lastname: Dadashi
authors.affiliation: Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Amin
authors.affiliation: Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Keramatipour
keywords: Cardiomyopathy; Diagnosis; Genetic linkage; Hypertrophic