An APEX-based genotyping microarray for the screening of 168
mutations associated with familial hypercholesterolemia

J 2011

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia

DUŠKOVÁ, Lucie, Lenka KOPEČKOVÁ, Eva JANSOVÁ, Lukáš TICHÝ, Tomáš FREIBERGER et. al.

Basic information

Original name

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia

Authors

DUŠKOVÁ, Lucie (203 Czech Republic), Lenka KOPEČKOVÁ (203 Czech Republic), Eva JANSOVÁ (203 Czech Republic), Lukáš TICHÝ (203 Czech Republic), Tomáš FREIBERGER (203 Czech Republic), Petra ZAPLETALOVÁ (203 Czech Republic), Vladimír SOŠKA (203 Czech Republic), Barbora RAVČUKOVÁ (203 Czech Republic) and Lenka FAJKUSOVÁ (203 Czech Republic, guarantor, belonging to the institution)

Edition

Atherosclerosis, Irsko, ELSEVIER SCI IRELAND LTD, 2011, 0021-9150

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 3.794

RIV identification code

RIV/00216224:14740/11:00051989

Organization unit

Central European Institute of Technology

DOI

http://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023

UT WoS

000290205800022

Keywords in English

Familial hypercholesterolemia; LDLR gene; Microarray; APEX reaction

Abstract

V originále

The aim of this study was, on the basis of data obtained by the molecular genetic analysis of 1945 Czech FH probands, to propose, generate, and validate a new diagnostic tool, an APEX (Arrayed Primer EXtension)-based genotyping DNA microarray called the FH chip.The FH chip contains the APOB mutation p.Arg3527Gln, all 89 LDLR point mutations and small DNA rearrangements detected in Czech FH patients, and 78 mutations frequent in other European and Asian FH populations. This FH chip is a rapid, reproducible, specific, and cost-effective tool for genotyping, and in combination with MLPA (multiple ligation-dependent probe amplification) represents a reliable molecular genetic protocol for the large-scale screening of FH mutations in the Czech population.

Links

MSM0021622415, plan (intention)

Name: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations

2B08060, research and development project

Name: Vývoj diagnostiky a léčby závažných onemocnění srdce a cév pomocí genomických a epigenomických přístupů (Acronym: EPICARD)

Investor: Ministry of Education, Youth and Sports of the CR, Development of diagnostics and treatment of serious heart and vascular diseases using genomic and proteomic approaches

Citovat

DUŠKOVÁ, Lucie, Lenka KOPEČKOVÁ, Eva JANSOVÁ, Lukáš TICHÝ, Tomáš FREIBERGER, Petra ZAPLETALOVÁ, Vladimír SOŠKA, Barbora RAVČUKOVÁ and Lenka FAJKUSOVÁ. An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. Atherosclerosis. Irsko: ELSEVIER SCI IRELAND LTD, 2011, vol. 216, No 1, p. 139-145. ISSN 0021-9150. Available from: https://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023.

@article{930406,
   author = {Dušková, Lucie and Kopečková, Lenka and Jansová, Eva and Tichý, Lukáš and Freiberger, Tomáš and Zapletalová, Petra and Soška, Vladimír and Ravčuková, Barbora and Fajkusová, Lenka},
   article_location = {Irsko},
   article_number = {1},
   doi = {http://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023},
   keywords = {Familial hypercholesterolemia; LDLR gene; Microarray; APEX reaction},
   language = {eng},
   issn = {0021-9150},
   journal = {Atherosclerosis},
   title = {An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia},
   volume = {216},
   year = {2011}
}

TY  - JOUR
ID  - 930406
AU  - Dušková, Lucie - Kopečková, Lenka - Jansová, Eva - Tichý, Lukáš - Freiberger, Tomáš - Zapletalová, Petra - Soška, Vladimír - Ravčuková, Barbora - Fajkusová, Lenka
PY  - 2011
TI  - An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
JF  - Atherosclerosis
VL  - 216
IS  - 1
SP  - 139-145
EP  - 139-145
PB  - ELSEVIER SCI IRELAND LTD
SN  - 00219150
KW  - Familial hypercholesterolemia
KW  - LDLR gene
KW  - Microarray
KW  - APEX reaction
N2  - The aim of this study was, on the basis of data obtained by the molecular genetic analysis of 1945 Czech FH probands, to propose, generate, and validate a new diagnostic tool, an APEX (Arrayed Primer EXtension)-based genotyping DNA microarray called the FH chip.The FH chip contains the APOB mutation p.Arg3527Gln, all 89 LDLR point mutations and small DNA rearrangements detected in Czech FH patients, and 78 mutations frequent in other European and Asian FH populations. This FH chip is a rapid, reproducible, specific, and cost-effective tool for genotyping, and in combination with MLPA (multiple ligation-dependent probe amplification) represents a reliable molecular genetic protocol for the large-scale screening of FH mutations in the Czech population.
ER  -

DUŠKOVÁ, Lucie, Lenka KOPEČKOVÁ, Eva JANSOVÁ, Lukáš TICHÝ, Tomáš FREIBERGER, Petra ZAPLETALOVÁ, Vladimír SOŠKA, Barbora RAVČUKOVÁ and Lenka FAJKUSOVÁ. An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. \textit{Atherosclerosis}. Irsko: ELSEVIER SCI IRELAND LTD, 2011, vol.~216, No~1, p.~139-145. ISSN~0021-9150. Available from: https://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023.

Detailed Information on Publication Record