Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia.
OBJECTIVE
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.


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.
Laios
Eleftheria
E
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
Glynou
Kyriaki
K
D000483:Alleles; D004252:DNA Mutational Analysis / Q000379:methods; D005189:False Positive Reactions; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D015810:Linkage Disequilibrium; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011973:Receptors, LDL / Q000235:genetics*; D012107:Research Design
D011973:Receptors, LDL