A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene.
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.
Perusi
C
C
Università di Verona, Italia.
Gomez-Lira
M
M
Mottes
M
M
Pignatti
P F
PF
Rizzuto
N
N
Salviati
A
A
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
D002553:Cerebroside-Sulfatase