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.

A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene

GOMEZ, Maria Macarena;MOTTES, Monica;PIGNATTI, Pierfranco;RIZZUTO, Nicolo';SALVIATI, Alessandro
1997-01-01

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.
1997
ARSA gene; MLD; Polymorphism;
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/3609
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