title: Arylsulfatase A pseudodeficiency in healthy Brazilian individuals.
abstract: 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.
authors.affiliation: Servico de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.
authors.forename: C G
authors.initials: CG
authors.lastname: Pedron
authors.forename: P A
authors.initials: PA
authors.lastname: Gaspar
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
authors.forename: M L
authors.initials: ML
authors.lastname: Pereira
mesh_terms: D000483:Alleles; D000704:Analysis of Variance; D001938:Brazil; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D005838:Genotype; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D044465:White People
chemical_list: D004247:DNA; D002553:Cerebroside-Sulfatase