Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. The primary objective of this study was to identify the major pathogenic mutations in a Chinese family with FH.

Methods

Whole-genome sequencing (WGS) was used to identify variants of FH-related genes, including low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9). Bioinformatics software was used to predict signal peptides, transmembrane structures, and spatial construction information of the mutated sequences. Western blotting was performed on the mutant protein to determine the presence of the major structural domains of the LDLR. The PCSK9 and APOB genes were screened and analyzed. Moreover, the proband and his brother

SUBMITTER: Lv X 

PROVIDER: S-EPMC10585857 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature