Trinucelotide Repeat Disorders Flashcards
1
Q
Trinucleotide Repeat Disorders
A
= genetic conditions caused by an abnormal number of repeats (expansions) of a repetitive sequence of 3 nucleotides
These expansions are unstable and may enlarge which may lead to an earlier age of onset in successive generations = ANTICIPATION
Examples: (Note dominance of neurological disorders)
- Fragile X
- Huntingtons
- Myotonic Dystrophy
- Friedrichs Ataxia
- Spinocerebellar ataxia
- Spinobulbar muscular atrophy
- Dentatorubral pallidoluysian atrophy
Anticipation = earlier onset of Sx in successive generations
NB also more severe in successive generations but earlier is key
