J Genet Med.  1998 Dec;2(2):65-70.

Thr-6Pro missense mutation in human lysosomal acid lipase (LAL) gene in patients with familial hypercholesterolemia in Korea

  • 1Department of Biology and Institute of Biotechnology, Kongju National University, Kongju 314-701, Korea. kwchung@knu.kongju.ac.kr
  • 2Department of Biology, College of Medicine, Pochon CHA University, Pochon 487-800, Korea.
  • 3Department of Biology, Cheju National University, Cheju, Korea.
  • 4Department of Biology and Research Center for Cell Differentiation, Seoul National University, Seoul, Korea.


Lysosomal acid lipase (LAL) plays a central role in the intracellular degradation of neutral lipids derived from plasma lipoproteins. In this study, we investigated the missense mutation within exon 2 of human LAL gene changing of codon -6 of prepeptide from threonine to proline. The Thr-6Pro mutation was detected by the Hae III restriction fragment length polymorphism (RFLP) and single-strand conformation polymorphism (SSCP). We analyzed the mutation in subjects with 221 unrelated randomly selected control samples and 86 patients with familial hypercholesterolemia (FH) in Korea. We observed that mutation is present with high frequency in Korea compared to other populations studied previously. The frequency of PP homozygote in the FH group was observed considerably higher than that of control. However, there was no significant difference of genotype frequency between two groups. These results, together with the fact that plasma lipids and lipoproteins levels between genotypes showed no statistical difference, suggest that the Thr-6Pro mutation in the LAL gene may have no association with the increased risk of FH development.


Familial hypercholesterolemia; Hae III RFLP; lysosomal acid lipase; Thr-6Pro mutation
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