A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations.
Hum Genet
; 97(2): 265-7, 1996 Feb.
Article
en En
| MEDLINE
| ID: mdl-8566968
ABSTRACT
A frequent missense mutation (Thr-6Pro) found in the prepeptide of the lysosomal acid lipase (LAL) gene was analyzed in a cohort of 1003 randomly selected samples from Germany, Japan and Sardinia (Italy). Using the mutagenically separated polymerase chain reaction (MS-PCR), allele frequencies of 0.269, 0.238 and 0.245 were determined in the three populations, respectively. Statistical analysis showed a lack of association with a dyslipidemic phenotype in all three groups. Additionally, in a subgroup of 126 German individuals no association was observed between genotype and LAL activity. We conclude that this mutation appears to be a frequent LAL gene polymorphism causing no impaired function of the enzyme and no measurable dyslipidemia in the general population.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Etnicidad
/
Frecuencia de los Genes
/
Lipasa
/
Lipoproteínas
/
Lisosomas
/
Mutación
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Asia
/
Europa
Idioma:
En
Revista:
Hum Genet
Año:
1996
Tipo del documento:
Article
País de afiliación:
Alemania