Les maladies a triplets: un nouveau concept mutationnel. [Triple expansion diseases: a new mutational concept]

Détails

ID Serval
serval:BIB_9144F6C9EE46
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Les maladies a triplets: un nouveau concept mutationnel. [Triple expansion diseases: a new mutational concept]
Périodique
Revue Médicale de la Suisse Romande
Auteur(s)
Schorderet  D. F.
ISSN
0035-3655 (Print)
Statut éditorial
Publié
Date de publication
02/1999
Volume
119
Numéro
2
Pages
103-6
Notes
English Abstract
Journal Article
Review --- Old month value: Feb
Résumé
The human genome, made of about 3 billion bases, encodes between 75 and 100,000 genes. However, most of the genome is made of non coding sequences, whose function is still unknown. When a base variation occurs in a DNA fragment, base change, deletion or insertion of one or several bases, a mutation or a polymorphism is generated depending whether this base change modifies or not the function of the encoded gene. In 1991, a new type of mutation has been discovered, namely the expansion beyond a critical length of a three-base repeat, called triplet. These anomalies due to genome instability are not rare and are now responsible for at least twelve diseases. It is expected that other diseases due to the same mechanism will be discovered in the near future. This article illustrates the concept of mutation by triplet expansion and presents 3 diseases frequently observed in Pediatrics: the fragile X syndrome, myotonic dystrophy and Friedreich's ataxia.
Mots-clé
Fragile X Syndrome/*genetics Friedreich Ataxia/*genetics Humans Mutation/*genetics Myotonic Dystrophy/*genetics Trinucleotide Repeat Expansion/*genetics
Pubmed
Création de la notice
28/01/2008 13:58
Dernière modification de la notice
03/03/2018 19:28
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