Thr-6Pro missense mutation in human lysosomal acid lipase (LAL) gene in patients with familial hypercholesterolemia in Korea
Journal of Genetic Medicine
; : 65-70, 1998.
Article
em En
| WPRIM
| ID: wpr-35566
Biblioteca responsável:
WPRO
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Plasma
/
Treonina
/
Polimorfismo de Fragmento de Restrição
/
Códon
/
Prolina
/
Éxons
/
Esterol Esterase
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Mutação de Sentido Incorreto
/
Genótipo
/
Homozigoto
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Journal of Genetic Medicine
Ano de publicação:
1998
Tipo de documento:
Article