The molecular basis of familial hypercholesterolemia in The Netherlands

摘要: Mutations in the low-density lipoprotein (LDL) receptor gene are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations this known to underlie FH. However, array of varies considerably different populations. Therefore, delineation essentially all LDL-receptor a population is prerequisite implementation nation-wide genetic testing In Netherlands, mutation analysis by denaturing gradient gel electrophoresis and sequencing 1641 clinically diagnosed FH patients resulted characterization 159 defects. The nine most common were 66.5% our index cases. Of these, four occurred with relatively high frequencies specific parts Netherlands. remaining only encountered single patients, comprising 22.2% patient cohort analyzed. Subsequent relatives cases within national screening program identification 5,531 total. continuing effort update catalogue. Subsequently, newly generated cases, can be extended continued identify treat as early possible reduce cardiovascular morbidity mortality these at risk.