Reliable Low-Density DNA Array Based on Allele-Specific Probes for Detection of 118 Mutations Causing Familial Hypercholesterolemia

1 July 2005

journal article
Published by Oxford University Press (OUP) in Clinical Chemistry

Vol. 51 (7) , 1137-1144
https://doi.org/10.1373/clinchem.2004.045203

Abstract

Background: Patients with familial hypercholesterolemia (FH) have a high risk of premature cardiovascular disease (PCVD). Mutations in the LDL receptor (LDLR) gene and the R3500Q mutation in the apolipoprotein B (APOB) gene are known to cause FH, but lack of high-throughput methods makes routine genetic diagnosis difficult. The objective of this work was to develop a DNA array for large-scale identification of mutant LDLR alleles.

Keywords

DNA SEQUENCE
HIGH THROUGHPUT
DNA ARRAY
APOLIPOPROTEIN B
RELATIVE RISK
GENETICS
MISSENSE MUTATION

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