Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis
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 thi...
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Publicado no: | Iran J Public Health |
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Tehran University of Medical Sciences
2016
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pubmed-48517472016-05-02 Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis SAGHAFI, Hoorieh HAGHJOO, Majid SABBAGH, Sima SAMIEE, Niloofar VAKILIAN, Farve SALEHI OMRAN, Mohammad Taghi DADASHI, Masoomeh AMIN, Ahmad KERAMATIPOUR, Mohammad Iran J Public Health Original Article 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. Tehran University of Medical Sciences 2016-03 /pmc/articles/PMC4851747/ /pubmed/27141495 Text en Copyright© Iranian Public Health Association & Tehran University of Medical Sciences This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly. |
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Original Article SAGHAFI, Hoorieh HAGHJOO, Majid SABBAGH, Sima SAMIEE, Niloofar VAKILIAN, Farve SALEHI OMRAN, Mohammad Taghi DADASHI, Masoomeh AMIN, Ahmad KERAMATIPOUR, Mohammad Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis |
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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. |
author |
SAGHAFI, Hoorieh HAGHJOO, Majid SABBAGH, Sima SAMIEE, Niloofar VAKILIAN, Farve SALEHI OMRAN, Mohammad Taghi DADASHI, Masoomeh AMIN, Ahmad KERAMATIPOUR, Mohammad |
author_facet |
SAGHAFI, Hoorieh HAGHJOO, Majid SABBAGH, Sima SAMIEE, Niloofar VAKILIAN, Farve SALEHI OMRAN, Mohammad Taghi DADASHI, Masoomeh AMIN, Ahmad KERAMATIPOUR, Mohammad |
author_sort |
SAGHAFI, Hoorieh |
title |
Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis |
title_short |
Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis |
title_full |
Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis |
title_fullStr |
Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis |
title_full_unstemmed |
Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis |
title_sort |
setting up multiplex panels for genetic testing of familial hypertrophic cardiomyopathy based on linkage analysis |
publisher |
Tehran University of Medical Sciences |
container_title |
Iran J Public Health |
publishDate |
2016 |
url |
https://ncbi.nlm.nih.gov/pmc/articles/PMC4851747/ https://ncbi.nlm.nih.gov/pubmed/27141495 |
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1815170360988925952 |