Arylsulfatase A pseudodeficiency in healthy brazilian individuals

• Autor(a) principal: Pedron, Cristina Grimaldi
• Data de Publicação: 1999
• Outros Autores: Gaspar, Pedro de Abreu, Giugliani, Roberto, Pereira, Maria Luiza Saraiva
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/21162
• topic: Bioquímica; Arylsulfatase A; Pseudodeficiency; Metachromatic; Leukodystrophy

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 procotol for metachromatic leukodystrophy.