Are only repeated triplets guilty?

V De Fonzo; E Bersani; F Aluffi-Pentini; T Castrignanò; V Parisi

doi:10.1006/jtbi.1998.0753

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Are only repeated triplets guilty?

V De Fonzo·E Bersani·F Aluffi-Pentini·T Castrignanò·V Parisi

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Abstract

It is well known that in some places of the human genome one finds a variable number of tandem repeats of trinucleotides; it is now commonly acknowledged that in many cases an excessive expansion of such a number is the cause of nervous system diseases. Moreover there exist cases of genetic disorders linked with loci where a variable number of tandem repeats of sequences longer than three bases has been found. The abnormal number of these repeats in few cases has been associated with the onset of the disease. Considering the above facts, we have performed an extensive study of published sequences of genes connected with various diseases. We have examined, inside or near those genes, all possible tandem repeats. The analysis has led to the detection of a large number of repeats of both triplets and longer sequences, many of which, as far as we know, had not been pointed out before. The results of our analysis lead us to put forward the hypothesis that in more cases than those till now established, a variable number of tandem repeats of generic sequences, not only of triplets, could be associated with disease onset. Finally we suggest to allocate experimental researches for all the possible tandem repeats and their possible correlation with the neurodegenerative disorders and with other kinds of syndromes.

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Base Sequence Genetic Diseases, Inborn Humans Molecular Sequence Data Mutation Neurodegenerative Diseases Point Mutation Polymorphism, Genetic Repetitive Sequences, Nucleic Acid Trinucleotide Repeats Journal Article

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V De Fonzo, E Bersani, F Aluffi-Pentini, T Castrignanò, V Parisi. 1998-09-07. Are only repeated triplets guilty?. https://doi.org/10.1006/jtbi.1998.0753

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