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1. Explore - Genetic Diseases: Challenges and Solutions

1.2 Types of Genetic Mutations

Genetic mutations differ in scale and impact, but all can disrupt how proteins are produced or function.

Mutation Type Description Example Disease
Point mutation Single nucleotide change Sickle cell (GAG→GTG)
Insertion/Deletion Added/removed nucleotides Cystic fibrosis (3bp ΔF508)
Trinucleotide repeat CAG expansion Huntington's disease
Chromosomal Aneuploidy, translocation Down syndrome (trisomy 21)

These mutations may result in proteins that are non-functional, partially functional, or harmful to cells.