Publication details

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

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.
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