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1. Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic

Creator:
Lukáš Tichý, Lenka Fajkusová, Petra Zapletalová, Lucie Schwarzová, Michal Vrablík, and Tomáš Freiberger
Format:
print, bez média, and svazek
Type:
article, články, journal articles, model:article, and TEXT
Subject:
Fyziologie člověka a srovnávací fyziologie, familiární hypercholesterolémie, cholesterol, familial hypercholesterolemia, Autosomal dominant hypercholesterolemia, LDLR, APOB, LDL cholesterol, MedPed, 14, and 612
Language:
English
Description:
Autosomal dominant hypercholesterolemia (ADH), more known as familial hypercholesterolemia (FH), is a lipid metabolism disorder characterized by an elevation in low-density lipoprotein cholesterol (LDL-C) and increased risk for cardiovascular disea se. In this study, we assessed a spectrum of mutations causing ADH in 3914 unrelated Czech patients with clinical diagnosis of hypercholesterolemia. Samples have been collected within the framework of the MedPed project running in the Czech Republic since 1998. So far we have found 432 patients (11.0 %) with the APOB gene mutation p.(Arg3527Gln) and 864 patients (22.1 %) with the LDLR gene mutation. In 864 probands carrying the LDLR gene mutation, 182 unique allelic variants were detected. We have identified 14 patients homozygous for mutations in the LDLR or APOB genes. We performed function analyses of p.(Leu15Pro) and p.(Gly20Arg) sequence variations., L. Tichý, L. Fajkusová, P. Zapletalová, L. Schwarzová, M. Vrablík, T. Freiberger., and Obsahuje bibliografii
Rights:
http://creativecommons.org/licenses/by-nc-sa/4.0/ and policy:public

2. The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey

Creator:
Gabčová, D., Branislav Vohnout, Staníková, D., Hučkova, M., Kadurová, M., Debreová, M., Kozárová, M., Ľubomíra Fábryová, Juraj Staník, Iwar Klimeš, Katarína Rašlová, and Gašperiková, D.
Format:
print, bez média, and svazek
Type:
article, články, model:article, and TEXT
Subject:
Fyziologie člověka a srovnávací fyziologie, familiární hypercholesterolémie, familial hypercholesterolemia, Slovensko, Slovakia, FH, LDLR, APOB, 14, and 612
Language:
English
Description:
Familial hypercholesterolemia (FH) is most frequently caused by LDLR or APOB mutations. Therefore, the aim of our study was to examine the genetic background of Slovak patients suspected of FH. Patients with clinical suspicion of FH (235 unrelated probands and 124 family relatives) were recruited throughout Slovakia during the years 2011-2015. The order of DNA analyses in probands was as follows: 1. APOB mutation p.Arg3527Gln by real-time PCR method, 2. direct sequencing of the LDLR gene 3. MLPA analysis of the LDLR gene. We have identified 14 probands and 2 relatives with an APOB mutation p.Arg3527Gln, and 89 probands and 75 relatives with 54 different LDLR mutations. Nine of LDLR mutations were novel (i.e. p .Asp90Glu, c.314-2A>G, p.Asp136Tyr, p.Ser177Pro, p.Lys225_Glu228delinsCysLys, p.Gly478Glu, p.Gly675Trpfs*42, p.Leu680Pro, p.Thr832Argfs*3). This is the first study on molecular genetics of FH in Slovakia encompassing the analysis of whole LDLR gene. Geneti c etiology of FH was confirmed in 103 probands (43.8 %). Out of them, 86.4 % of probands carried the LDLR gene mutation and remaining 13.6 % probands carried the p.Arg3527Gln APOB mutation., D. Gabčová, B. Vohnout, D. Staníková, M. Hučkova, M. Kadurová, M. Debreová, M. Kozárová, Ľ. Fábryová, Slovak FH Study Group, J. Staník, I. Klimeš, K. Rašlová, D. Gašperiková., and Obsahuje bibliografii
Rights:
http://creativecommons.org/publicdomain/mark/1.0/ and policy:public