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
Main Authors: SAGHAFI, Hoorieh, HAGHJOO, Majid, SABBAGH, Sima, SAMIEE, Niloofar, VAKILIAN, Farve, SALEHI OMRAN, Mohammad Taghi, DADASHI, Masoomeh, AMIN, Ahmad, KERAMATIPOUR, Mohammad
Formato: Artigo
Idioma:Inglês
Publicado em: Tehran University of Medical Sciences 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4851747/
https://ncbi.nlm.nih.gov/pubmed/27141495
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spelling 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.
institution US NLM
collection PubMed Central
language Inglês
format Artigo
topic Original Article
spellingShingle 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
description 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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