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

Details

Serval ID
serval:BIB_9144F6C9EE46
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Les maladies a triplets: un nouveau concept mutationnel. [Triple expansion diseases: a new mutational concept]
Journal
Revue Médicale de la Suisse Romande
Author(s)
Schorderet  D. F.
ISSN
0035-3655 (Print)
Publication state
Published
Issued date
02/1999
Volume
119
Number
2
Pages
103-6
Notes
English Abstract
Journal Article
Review --- Old month value: Feb
Abstract
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.
Keywords
Fragile X Syndrome/*genetics Friedreich Ataxia/*genetics Humans Mutation/*genetics Myotonic Dystrophy/*genetics Trinucleotide Repeat Expansion/*genetics
Pubmed
Create date
28/01/2008 12:58
Last modification date
20/08/2019 14:54
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