Chapter 15 - Gene Mutation and Molecular Medicine - 15.2 - Mutations in Humans Can Lead to Diseases - 15.2 Recap - Learning Outcomes - Page 323: 3

Expanding repeats such as trinucleotide repeat expansion refers to a form of mutation where nucleotide repeats in certain genes exceed the normal threshold. The mutation is hence a subset of unstable repeats that occur in all genomic sequences. If this specific repeat is present in a healthy gene, a mutation may increase the repeat count, resulting in a deformed gene. This explains why the mutations often "skips" generations, manifesting in grandchildren instead of children.

Expanding repeats such as trinucleotide repeat expansion refers to a form of mutation where nucleotide repeats in certain genes exceed the normal threshold. The mutation is hence a subset of unstable repeats that occur in all genomic sequences. If this specific repeat is present in a healthy gene, a mutation may increase the repeat count, resulting in a deformed gene. This explains why the mutations often "skips" generations, manifesting in grandchildren instead of children.