Arylsulfatase A pseudodeficiency in healthy Brazilian individuals.
Braz J Med Biol Res
; 32(8): 941-5, 1999 Aug.
Article
en En
| MEDLINE
| ID: mdl-10454754
Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<--G mutations were detected, corresponding to a frequency of 1.17% (4 of 324 alleles). The individual frequency of the N350S mutation was 20.7% (71 of 342 alleles) and 7.9% (27 of 342 alleles) for the 1524+95A<--G mutation. The frequency of the ASA-PD allele in our population was estimated to be 7.9%. This is the first report of ASA-PD allele frequency in a South American population. In addition, the methods used are effective and suitable for application in countries with limited resources. All patients with low ASA activity should be screened for ASA-PD as part of the diagnostic protocol for metachromatic leukodystrophy.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cerebrósido Sulfatasa
/
Alelos
/
Leucodistrofia Metacromática
Tipo de estudio:
Guideline
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Braz J Med Biol Res
Año:
1999
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Brasil