LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.

ABSTRACT:

Background

Large deletions and duplications within the low-density lipoprotein receptor (LDLR) gene make up approximately 10% of LDLR pathogenic variants found in Czech patients with familial hypercholesterolemia. The goal of this study was to test the hypothesis that all probands with each rearrangement share identical breakpoints inherited from a common ancestor and to determine the role of Alu repetitive elements in the generation of these rearrangements.

Methods

The breakpoint sequence was determined by PCR amplification and Sanger sequencing. To confirm the breakpoint position, an NGS analysis was performed. Haplotype analysis of common LDLR variants was performed using PCR and Sanger sequencing.

Results

The breakpoints of 8 rearrangements within the LDLR gene we

SUBMITTER: Konecna K 

PROVIDER: S-EPMC10835926 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature