Heritable changes in the number of repeated
groups of three nucleotides each (trinucleotide
or triplet repeat) represent a newclass of mutations
in man for which there is no parallel in
other organisms. They either occur within the
gene and are translated or occur outside the
gene in an untranslated region, and they are unstable
during transmission through the germline.
Unaffected persons may carry a premutation,
whichmay be converted to a full mutation
when passed through the germline to the next
generation. Therefore, the effects of the mutation
differ in severity in affected members
within the same family. Occasionally, there is
regression and a generation is skipped.
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