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A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A
C Perusi1, M Gomez-Lira, M Mottes
1Università di Verona, Italia.
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.
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