Types of Genetic Alterations that can lead to Disease
- Single base-pair substitutions (may alter a single amino acid or produce a stop signal)
- Insertion or deletion of one or more base pairs (may alter the reading frame)
- Repetition of sequences of base pairs
- Duplication of a gene or chromosome
- Chromosomal deletion or translocation
- Imprinting due to differential activity of paternal and maternal copies of a gene
- Alterations of a regulatory protein that controls expression of downstream genes
- Alteration in a gene with widespread effects on DNA transcription of distant genes
