Περίληψη:
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.
Λέξεις-κλειδιά:
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
