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 a...

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Bibliographic Details
Published in:Molecular and cellular probes 1997-12, Vol.11 (6), p.449-451
Main Authors: Perusi, Chiara, Gomez-Lira, Macarena, Mottes, Monica, Franco Pignatti, Pier, Rizzuto, Nicolo, Salviati, Alessandro
Format: Article
Language:English
Subjects:
ARSA gene
Cerebroside-Sulfatase - genetics
Gene Frequency
Genetics, Population
Germany
Greece
Humans
Italy
Leukodystrophy, Metachromatic - genetics
MLD
Mutation
polymorphism
Polymorphism, Genetic
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Summary: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 polymorphic site for the restriction endonucleaseNlaIII.
ISSN:0890-8508
1096-1194
DOI:10.1006/mcpr.1997.0138