[Genetic diseases and unstable expansions of trinucleotide repeats].
More than 10 genetic diseases, including 3 frequent ones (the fragile X mental retardation syndrome, myotonic dystrophy and Huntington's disease) are caused by unstable expansions of trinucleotide repeats. The instability of these mutations and their strong tendency to further expansion, account for the special characteristics of the mode of inheritance of these diseases. Unlike most other genetic diseases, that can be caused by a large number of different mutations, the trinucleotide expansion diseases are due to a single type of mutation. Detection of the expansion by DNA analysis allows thus easy and reliable diagnosis of these diseases. For several of them, the late but generally very deleterious clinical expression, raises the very delicate problem of genetic counselling and presymptomatic diagnosis.
Mandel
J L
JL
Institut de génétique et de biologie moléculaire et cellulaire (IGBMC) CNRS, INSERM, ULP, Illkirch.
D004247:DNA; D005600:Fragile X Syndrome / Q000235:genetics*; D005621:Friedreich Ataxia / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics*; D018911:Trinucleotide Repeats
D004247:DNA
Maladies génétiques et expansions instables de répétitions trinucléotidiques.