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1. Diagnostika mutací CFTR-genu u pacientů s poruchou reprodukce, záchyt pacientů s atypickou formou cystické fibrózy

Creator:
Gaillyová, Renata, Valášková, Iveta, and Pokojová, Eva
Type:
model:article, article, Text, kongresy, and TEXT
Subject:
cystická fibróza--diagnóza--genetika, geny, mutace, DNA--analýza, and infertilita mužská--diagnóza--genetika
Language:
Czech
Description:
Renata Gaillyová, I. Valášková, E. Pokojová
Rights:
http://creativecommons.org/publicdomain/mark/1.0/ and policy:public

2. Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome

Creator:
Martina Raudenská, Alexandra Bittnerová, Tomáš Novotný, Alena Floriánová, Karel Chroust, Renata Gaillyová, Bořivoj Semrád, Jitka Kadlecová, Martina Šišáková, Ondřej Toman, and Jindřich Špinar
Format:
print, bez média, and svazek
Type:
article, články, model:article, and TEXT
Subject:
Biochemie. Molekulární biologie. Biofyzika, fyziologie, genetika, geny, physiology, genetics, genes, ANK2, candidate geens, KCND3, long QT syndrome, SCN1B, 2, and 577
Language:
English
Description:
The long QT syndrome (LQTS) is a monogenic disorder characterized by prolongation of the QT interval on electrocardiogram and syncope or sudden death caused by polymorphic ventricular tachycardia (torsades de pointes). In general, mutations in cardiac ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2) have been identified as a cause for LQTS. About 50-60 % of LQTS patients have an identifiable LQTS causing mutation in one of mentioned genes. In a group of 12 LQTS patients with no identified mutations in these genes we have tested a hypothesis that other candidate genes could be involved in LQTS pathophysiology. SCN1B and KCND3 genes encode ion channel proteins, ANK2 gene encodes cytoskeletal protein interacting with ion channels. To screen coding regions of genes SCN1B, KCND3, and 10 exons of ANK2 following methods were used: PCR, SSCP, and DNA sequencing. Five polymorphisms were found in screened candid ate genes, 2 polymorphisms in KCND3 and 3 in SCN1B. None of found polymorphisms has coding effect nor is located close to splice sites or has any similarity to known splicing enhancer motifs. Polymorphism G246T in SCN1B is a novel one. No mutation directly causing LQTS was found. Molecular mechanism of LQTS genesis in these patients remains unclear., M. Raudenská, A. Bittnerová, T. Novotný, A. Floriánová, K. Chroust, R. Gaillyová, B. Semrád, J. Kadlecová, M. Šišáková, O. Toman, J. Špinar., and Obsahuje bibliografii a bibliografické odkazy
Rights:
http://creativecommons.org/licenses/by-nc-sa/4.0/ and policy:public

3. The interaction of genetic and environmental factors in the etiology of hypertension

Creator:
Jaroslav Kuneš and Josef Zicha
Type:
article, články, model:article, and TEXT
Subject:
Fyziologie člověka a srovnávací fyziologie, fyziologie, syndrom inzulinové rezistence, hypertenze, geny, životní prostředí, ekologická genetika, physiology, insulin resistance syndrome, hypertension, genes, environment, ecological genetics, 14, and 612
Language:
English
Description:
Essential hypertension is a major risk factor for several cardiovascular diseases. It is a complex trait resulting from the interactions of multiple genetic and environmental factors. Moreover, not only genetic but also epigenetic inheritance plays a significant role. One can speculate that hypertension develops as a consequence of “errors” in well-coordinated regulatory systems of blood pressure. Errors in the cascade of molecular, biochemical and genetic processes, which regulate blood pressure, have finally enough potential to result in hypertension. Numerous environmental factors surrounding the organism during its development should influence the expression of genetic information. However, despite the considerable research effort, it is still difficult to identify all genes and/or other genetic determinants leading to essential hypertension and other cardiovascular diseases. This is mainly because these diseases usually become a medical problem in adulthood, although their roots might be traced back to earlier stages of ontogeny. The link between distinct developmental periods (e.g. birth and adulthood) should involve changes in gene expression involving epigenetic phenomena. The purpose of the present paper is to bring a piece of light on gene-environmental interactions potentially implicated in the pathogenesis of hypertension., J. Kuneš, J. Zicha., and Obsahuje seznam literatury
Rights:
http://creativecommons.org/licenses/by-nc-sa/4.0/ and policy:public