mutation

Mutation

A change in DNA that can occur spontaneously or due to external factors (mutagens).

Germ cells vs Somatic cells

Mutations in germ cells are heritable, while those in somatic cells are not.

Base Substitution Mutation

A mutation that results in a changed amino acid sequence, potentially affecting protein function.

Types of Mutations

Includes substitution, insertions/deletions, and inversions.

Substitution Mutation

A base change in DNA that can be neutral (silent), beneficial, or harmful.

Insertions/Deletions

Mutations that can cause frameshift mutations, leading to serious consequences.

Inversion Mutation

A mutation where a DNA segment is reversed in direction.

Sickle-Cell Anemia

A base substitution mutation (glutamic acid to valine) causing sickle-shaped red blood cells.

HIV Immunity

A beneficial mutation caused by a deletion in the CCR5 gene, making individuals immune to HIV.

Sickle-Cell and Malaria

A mutation that causes sickle-cell anemia providing resistance to malaria.

Huntington’s Disease

A disease caused by an increased number of CAG repeats in the HTT gene, leading to brain degeneration.

CRISPR Technology

A gene-editing tool that modifies specific DNA sequences, turning genes on/off or repairing mutations.

Conserved Sequences

DNA sequences, such as ribosomal RNA, that remain unchanged over evolutionary time due to their essential function.