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

Title:

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.

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:97dbf7ca-684d-4929-8d1e-4ef0aae6aca6
uuid:97dbf7ca-684d-4929-8d1e-4ef0aae6aca6
issn:0862-8408

Subject:

Fyziologie člověka a srovnávací fyziologie, familiární hypercholesterolémie, familial hypercholesterolemia, Slovensko, Slovakia, FH, LDLR, APOB, 14, and 612

Type:

article, články, model:article, and TEXT

Format:

print, bez média, and svazek

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

Language:

English

Rights:

http://creativecommons.org/publicdomain/mark/1.0/
policy:public

Source:

Physiological research | 2017 Volume:66 | Number:1

Harvested from:

CDK

Metadata only:

false