Long-Distance PCR-based Screening for Large Rearrangements of the LDL Receptor Gene in Korean Patients with Familial Hypercholesterolemia

摘要: Background: The LDL receptor is a cell-surface protein that regulates plasma cholesterol by specific uptake of particles from the blood circulation. Familial hypercholesterolemia (FH) results defective catabolism LDL, which caused mutations in LDL-receptor gene. Methods: For rapid and reliable detection large rearrangements gene, we established screening method based on long-distance PCR as an alternative to Southern-blot hybridization. Using PCR, 45 unrelated Korean subjects heterozygous for FH were screened assess frequency nature major structural gene. Results: Two different deletion mutations, FH6 (same type FH3 FH311) 32, detected four families PCR. Detailed restriction mapping sequence analysis showed was 5.71-kb extending intron 8 12 FH32 2-kb 6 7. Sequence breakpoints all deletions patients only left arms Alu repetitive sequences involved event. Conclusions: provides powerful strategy gene