ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis

Mol Genet Metab. 2003 Aug;79(4):305-7. doi: 10.1016/s1096-7192(03)00092-1.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alleles*
  • Base Sequence
  • Case-Control Studies
  • Cerebroside-Sulfatase / deficiency*
  • Cerebroside-Sulfatase / genetics*
  • Gene Frequency*
  • Genetics, Population
  • Haplotypes
  • Humans
  • Middle Aged
  • Oligonucleotides
  • Polymorphism, Genetic*
  • Portugal
  • Schizophrenia / genetics

Substances

  • Oligonucleotides
  • Cerebroside-Sulfatase