TY - JOUR
TI - Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia
AU - Laios, E.
AU - Glynou, K.
JO - Clinical Biochemistry
PY - 2008
VL - 41
TODO - 1-2
SP - 38-40
PB - 
SN - 0009-9120
TODO - 10.1016/j.clinbiochem.2007.09.017
TODO - low density lipoprotein receptor, article;  familial hypercholesterolemia;  gene frequency;  gene mutation;  genotype;  human;  polymerase chain reaction;  priority journal;  restriction fragment length polymorphism, Alleles;  DNA Mutational Analysis;  False Positive Reactions;  Gene Frequency;  Genotype;  Heterozygote Detection;  Humans;  Hyperlipoproteinemia Type II;  Linkage Disequilibrium;  Mutation;  Polymorphism, Single Nucleotide;  Receptors, LDL;  Research Design
TODO - Objectives: Familial hypercholesterolemia is a monogenic disorder caused by mutations in the LDL receptor (LDLR) gene. We observed allelic drop-out during LDLR genotyping and aimed at redesigning mutation detection. Design and methods: The NanoChip microelectronic array technology and PCR restriction fragment length polymorphism analysis were used. Results: Allele drop-out caused false homozygous diagnoses and was overcome using PCR primers without polymorphisms in the primer binding site. Conclusions: This report presents the importance of allele drop-out in LDLR genotyping. © 2007 The Canadian Society of Clinical Chemists.
ER -