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

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Authors	DUŠKOVÁ Lucie KOPEČKOVÁ Lenka JANSOVÁ Eva TICHÝ Lukáš FREIBERGER Tomáš ZAPLETALOVÁ Petra SOŠKA Vladimír RAVČUKOVÁ Barbora FAJKUSOVÁ Lenka
Year of publication	2011
Type	Article in Periodical
Magazine / Source	Atherosclerosis
MU Faculty or unit	Central European Institute of Technology
Citation
Doi	http://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023
Field	Genetics and molecular biology
Keywords	Familial hypercholesterolemia; LDLR gene; Microarray; APEX reaction
Description	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.
Related projects:	Molecular basis of cell and tissue regulations Development of diagnostics and treatment of serious heart and vascular diseases using genomic and proteomic approaches