title: A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene.
abstract: A novel mutation, a C-->T transition at nucleotide 455 of the coding sequence of the ARSA gene, was found in a control individual during the search for metachromatic leukodystrophy mutations. Its distribution in three different populations was examined. The frequency of the T allele was 0.058, 0.025 and 0.033, in Italian, German and Greek populations, respectively. The mutation results in no amino acid substitution and can be identified as it creates a a polymorphic site for the restriction endonuclease N/aIII.
authors.affiliation: Università di Verona, Italia.
authors.forename: C
authors.initials: C
authors.lastname: Perusi
authors.forename: M
authors.initials: M
authors.lastname: Gomez-Lira
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: A
authors.initials: A
authors.lastname: Salviati
mesh_terms: D002553:Cerebroside-Sulfatase / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D005858:Germany; D006115:Greece; D006801:Humans; D007558:Italy; D007966:Leukodystrophy, Metachromatic / Q000235:genetics; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D002553:Cerebroside-Sulfatase