Evidence map›Paper›PMID 27141495›Full record

ArticleIranian journal of public health2016

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

Hoorieh Saghafi, Majid Haghjoo, Sima Sabbagh, Niloofar Samiee, Farve Vakilian, Mohammad Taghi Salehi Omran, Masoomeh Dadashi, Ahmad Amin, Mohammad Keramatipour

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Article in Iranian journal of public health, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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9 authors.

Hoorieh SaghafiDept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.
Majid HaghjooRajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Sima SabbaghDept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.
Niloofar SamieeRajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Farve VakilianPreventive Cardiovascular Care Research Center, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Mohammad Taghi Salehi OmranRoohani Hospital, Babol University of Medical Sciences, Bobol, Iran.
Masoomeh DadashiRajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Ahmad AminRajaie Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Mohammad KeramatipourDept. of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial 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.

methodsSix 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.

resultsAll 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.

conclusionThis 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.

Indexed as

CardiomyopathyDiagnosisGenetic linkageHypertrophic

Identifiers

PMID27141495
PMCPMC4851747

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