title: ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis.
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.
authors.affiliation: Lysosome and Peroxisome Biology Unit, Institut for Molecular and Cell Biology, IBMC, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Marcão
authors.forename: Eugénia
authors.initials: E
authors.lastname: Pinto
authors.forename: Sónia
authors.initials: S
authors.lastname: Rocha
authors.forename: M C
authors.initials: MC
authors.lastname: Sá Miranda
authors.forename: Luís
authors.initials: L
authors.lastname: Ferreira
authors.forename: Olga
authors.initials: O
authors.lastname: Amaral
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001483:Base Sequence; D016022:Case-Control Studies; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D009841:Oligonucleotides; D011110:Polymorphism, Genetic; D011174:Portugal; D012559:Schizophrenia / Q000235:genetics
chemical_list: D009841:Oligonucleotides; D002553:Cerebroside-Sulfatase