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, 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.

Basic information

• Original name: An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
• Authors: DUŠKOVÁ, Lucie, Lenka KOPEČKOVÁ, Eva JANSOVÁ, Lukáš TICHÝ, Tomáš FREIBERGER, Petra ZAPLETALOVÁ, Vladimír SOŠKA, Barbora RAVČUKOVÁ and Lenka FAJKUSOVÁ.
• Edition: Atherosclerosis, Irsko, ELSEVIER SCI IRELAND LTD, 2011, 0021-9150.

Other information

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: Genetics and molecular biology
• Country of publisher: Ireland
• Confidentiality degree: is not subject to a state or trade secret
• Impact factor: Impact factor: 3.794
• 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
• Tags: International impact, Reviewed

Abstract

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