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Arylsulfatase A pseudodeficiency in healthy brazilian individuals

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Arylsulfatase A pseudodeficiency in healthy brazilian individuals

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Título Arylsulfatase A pseudodeficiency in healthy brazilian individuals
Autor Pedron, Cristina Grimaldi
Gaspar, Pedro de Abreu
Giugliani, Roberto
Pereira, Maria Luiza Saraiva
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 procotol for metachromatic leukodystrophy.
Contido em Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas. Ribeirão Preto, SP. Vol. 32, no. 8 (Aug. 1999), p. 941-945
Assunto Bioquímica
[en] Arylsulfatase A
[en] Leukodystrophy
[en] Metachromatic
[en] Pseudodeficiency
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/21162
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