Arylsulfatase A pseudodeficiency in healthy Brazilian individuals

Brazilian Journal of Medical and Biological Research

C.g. Pedron¹  P.a. Gaspar¹  R. Giugliani¹  M.l.s. Pereira¹ 

[1] ,Hospital de Clínicas de Porto Alegre

关键词: arylsulfatase A;    pseudodeficiency;    metachromatic leukodystrophy;   

DOI  :  10.1590/S0100-879X1999000800002

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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