Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

ABSTRACT:

Background

Familial Hypercholesterolemia is a common autosomal dominantly inherited disease that is most frequently caused by mutations in the gene encoding the receptor for low density lipoproteins (LDLR). Deletions and other major structural rearrangements of the LDLR gene account for approximately 5% of the mutations in many populations.

Methods

Five genomic deletions in the LDLR gene were characterized by amplification of mutated alleles and sequencing to identify genomic breakpoints. A diagnostic assay based on duplex PCR for the exon 7-8 deletion was developed to discriminate between heterozygotes and normals, and bioinformatic analyses were used to identify interspersed repeats flanking the deletions.

Results

In one case 15 bp had been inserted at the site of t

SUBMITTER: Nissen PH 

PROVIDER: S-EPMC1523332 | biostudies-literature | 2006 Jun

REPOSITORIES: biostudies-literature