Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis

Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis

Saghafi H¹ ; Haghjoo M² ; Sabbagh S¹ ; Samiee N² ; Vakilian F³ ; Taghi Salehi Omran M⁴ ; Dadashi M² ; Amin A² ; Keramatipour M¹

Show Affiliations

1. Dept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
2. Rajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran
3. Preventive Cardiovascular Care Research Center, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
4. Roohani Hospital, Babol University of Medical Sciences, Bobol, Iran

Source: Iranian Journal of Public Health Published:2016

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 link-age 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. © 2016, Iranian Journal of Public Health. All rights reserved.

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Style	Citing Format
MLA	Saghafi H, et al.. "Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis." Iranian Journal of Public Health, vol. 45, no. 3, 2016, pp. 329-339.
APA	Saghafi H, Haghjoo M, Sabbagh S, Samiee N, Vakilian F, Taghi Salehi Omran M, Dadashi M, Amin A, Keramatipour M (2016). Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis. Iranian Journal of Public Health, 45(3), 329-339.
Chicago	Saghafi H, Haghjoo M, Sabbagh S, Samiee N, Vakilian F, Taghi Salehi Omran M, Dadashi M, Amin A, Keramatipour M. "Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis." Iranian Journal of Public Health 45, no. 3 (2016): 329-339.
Harvard	Saghafi H et al. (2016) 'Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis', Iranian Journal of Public Health, 45(3), pp. 329-339.
Vancouver	Saghafi H, Haghjoo M, Sabbagh S, Samiee N, Vakilian F, Taghi Salehi Omran M, et al.. Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis. Iranian Journal of Public Health. 2016;45(3):329-339.
BibTex	@article{ author = {Saghafi H and Haghjoo M and Sabbagh S and Samiee N and Vakilian F and Taghi Salehi Omran M and Dadashi M and Amin A and Keramatipour M}, title = {Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis}, journal = {Iranian Journal of Public Health}, volume = {45}, number = {3}, pages = {329-339}, year = {2016} }
RIS	TY - JOUR AU - Saghafi H AU - Haghjoo M AU - Sabbagh S AU - Samiee N AU - Vakilian F AU - Taghi Salehi Omran M AU - Dadashi M AU - Amin A AU - Keramatipour M TI - Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis JO - Iranian Journal of Public Health VL - 45 IS - 3 SP - 329 EP - 339 PY - 2016 ER -

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