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ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis
Ana Marcão1, Eugénia Pinto, Sónia Rocha
1Lysosome and Peroxisome Biology Unit, Institut for Molecular and Cell Biology, IBMC, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal.
Molecular Genetics and Metabolism
|September 2, 2003
Abstract:
Arylsulfatase A pseudodeficiency (ARSA-PD) may be related to increased susceptibility to neuro-psychiatric disorders. An association of allele 2417G/3352A with schizophrenia was found in a group of Portuguese patients. In the Portuguese population, at least one PD associated alteration exists in 18.3% of the ARSA alleles. Allele 2417G/3352G was invariably associated with a conserved haplotype, while 2417G/3352A and the rare 2417A/3352G alleles appeared on different haplotypes.