ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis.
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.
Marcão
Ana
A
Lysosome and Peroxisome Biology Unit, Institut for Molecular and Cell Biology, IBMC, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal.
Pinto
Eugénia
E
Rocha
Sónia
S
Sá Miranda
M C
MC
Ferreira
Luís
L
Amaral
Olga
O
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
D009841:Oligonucleotides; D002553:Cerebroside-Sulfatase