Eleftheria Laios1, Kyriaki Glynou. 1. Unit of Metabolic Diseases, Choremio Research Laboratory, University of Athens, 1st Department of Pediatrics, "Aghia Sophia" Children's Hospital, Athens 11527, Greece. elaiou@med.uoa.gr
Abstract
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.
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.
Authors: Sandro Rossetti; Katharina Hopp; Robert A Sikkink; Jamie L Sundsbak; Yean Kit Lee; Vickie Kubly; Bruce W Eckloff; Christopher J Ward; Christopher G Winearls; Vicente E Torres; Peter C Harris Journal: J Am Soc Nephrol Date: 2012-03-01 Impact factor: 10.121
Authors: A Morrone; K L Tylee; M Al-Sayed; A C Brusius-Facchin; A Caciotti; H J Church; M J Coll; K Davidson; M J Fietz; L Gort; M Hegde; F Kubaski; L Lacerda; F Laranjeira; S Leistner-Segal; S Mooney; S Pajares; L Pollard; I Ribeiro; R Y Wang; N Miller Journal: Mol Genet Metab Date: 2014-03-20 Impact factor: 4.797