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

C Perusi·M Gomez-Lira·M Mottes·P F Pignatti·N Rizzuto·A Salviati
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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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Cerebroside-SulfataseGene FrequencyGenetics, PopulationGermanyGreeceHumansItalyLeukodystrophy, MetachromaticMutationPolymorphism, GeneticJournal ArticleResearch Support, Non-U.S. Gov't

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C Perusi, M Gomez-Lira, M Mottes, P F Pignatti, N Rizzuto, A Salviati. 1997. A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene.. https://doi.org/10.1006/mcpr.1997.0138

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