Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
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
Authors

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.
Related Docs
View other Related Docs
1. Association Between Rs10757274 and Rs2383206 Snps As Genetic Risk Factors in Iranian Patients With Coronary Artery Disease, Journal of Tehran University Heart Center (2017)
2. The Sdf1 A/G Gene Variant: A Susceptibility Variant for Myocardial Infarction, Genetic Testing and Molecular Biomarkers (2017)
3. Tcap Gene Is Not a Common Cause of Cardiomyopathy in Iranian Patients, European Journal of Medical Research (2023)
Experts (# of related papers)
View all Related Experts
Mohammad Ali Boroumand (2)
Mahsa Mohamad Amoli (2)
Other Related Docs
4. A Novel Heterozygous Missense Myh7 Mutation Potentially Causes an Autosomal Dominant Form of Myosin Storage Myopathy With Dilated Cardiomyopathy, BMC Cardiovascular Disorders (2023)
5. A Mutational Hotspot in the Lamp2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of the C.877C>T Variant: A Descriptive Study, Cell Journal (2024)
6. Influences of Il-1B -3953 C>T and Mmp-9-1562C >T Gene Variants on Myocardial Infarction Susceptibility in a Subset of the Iranian Population, Genetic Testing and Molecular Biomarkers (2017)
7. Mutation Analysis of Three Exons of Myosin-Binding Protein C3 in Patients With Hypertrophic Cardiomyopathy, Journal of Tehran University Heart Center (2016)
8. E101k and M123v Alpha-Cardiac Actin Gene Mutations Are Not Associated With Cardiomyopathy in Iranian Population, ARYA Atherosclerosis (2015)
9. Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia From China: A Systematic Review, Life (2022)
10. Novel Mutation in Patients With Microcephalic Osteodysplastic Primordial Dwarfism Type Ii (Mopd Ii), Metabolic Brain Disease (2025)
11. C667t and A1298c Polymorphisms of Methylenetetrahydrofolate Reductase Gene and Susceptibility to Myocardial Infarction: A Systematic Review and Meta-Analysis, International Journal of Cardiology (2016)
12. Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39Del) in Dsp Gene in an Iranian Pedigree With Familial Dilated Cardiomyopathy, Reports of Biochemistry and Molecular Biology (2021)
13. Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene, Journal of Endocrinological Investigation (2020)
14. Novel Manifestations of Warburg Micro Syndrome Type 1 Caused by a New Splicing Variant of Rab3gap1: A Case Report, BMC Neurology (2021)
15. A Novel Splicing Variant in Flnc Gene Responsible for a Highly Penetrant Familial Dilated Cardiomyopathy in an Extended Iranian Family, Gene (2018)
16. Genetics of Cardiovascular Disease and Applications of Genetic Testing, Practical Cardiology: Principles and Approaches (2022)
17. A Systematic Review of Ldlr, Pcsk9, and Apob Variants in Asia, Atherosclerosis (2020)
18. The Relationship of Genetic Signature for Cardiometabolic Risk With Biomarkers of Inflammatory and Oxidative Stress in Diabetic Patients, BMC Endocrine Disorders (2025)
19. Multivariate and Gene-Based Association Testing of Sarcopenia: Bushehr Elderly Health Program (Beh), Journal of Biostatistics and Epidemiology (2022)
20. Association of Kalrn, Adipoq, and Fto Gene Polymorphism in Type 2 Diabetic Patients With Coronary Artery Disease: Possible Predisposing Markers, Coronary Artery Disease (2016)