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Updated: Jun 16, 2026
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia
Eleftheria Laios1, Kyriaki Glynou
1Unit 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
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.
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