Genetic variation screening of TNNT2 gene in a cohort of patients with hypertrophic and dilated cardiomyopathy

Title:

Genetic variation screening of TNNT2 gene in a cohort of patients with hypertrophic and dilated cardiomyopathy

Creator:

Marie Jáchymová, Alexandra Muravská, Tomáš Paleček, Petr Kuchynka, Hana Řeháková, Sudheera Magage, Král, A., Tomáš Zima, Karel Horký, and Aleš Linhart

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:645d7c7e-a258-4471-aee3-d26eb97c02a4
uuid:645d7c7e-a258-4471-aee3-d26eb97c02a4

Subject:

Fyziologie člověka a srovnávací fyziologie, fyziologie člověka, human physiology, cardiomyopathy, genetic variations (mutation, polymorphism, deletion), TNNT2, gene, 14, and 612

Type:

article, články, model:article, and TEXT

Description:

Mutations in troponin T (TNNT2) gene represent the important part of currently identified disease-causing mutations in hypertrophic (HCM) and dilated (DCM) cardiomyopathy. The aim of this study was to analyze TNNT2 gene exons in patients with HCM and DCM diagnosis to improve diagnostic and genetic consultancy in affected families. All 15 exons and their flanking regions of the TNNT2 gene were analyzed by DNA sequence analysis in 174 patients with HCM and DCM diagnosis. We identified genetic variations in TNNT2 exon regions in 56 patients and genetic variations in TNNT2 intron regions in 164 patients. Two patients were found to carry unique mutations in the TNNT2 gene. Limited genetic screening analysis is not suitable for routine testing of disease-causing mutations in patients with HCM and DCM as only individual mutation-positive cases may be identified. Therefore, this approach cannot be recommended for daily clinical practice even though, due to financial constraints, it currently represents the only available strategy in a majority of cardio-centers., M. Jáchymová ... [et al.]., and Obsahuje seznam literatury

Language:

English

Rights:

http://creativecommons.org/licenses/by-nc-sa/4.0/
policy:public

Source:

Physiological research | 2012 Volume:61 | Number:2

Harvested from:

CDK

Metadata only:

false