Mutations and More

Mutation

Permanent changes in the DNA sequence.

Point Mutation

A single nucleotide is swapped for another during DNA replication.

Silent Mutation

A point mutation that does not change the protein.

Missense Mutation

A point mutation that changes one amino acid in a protein, potentially altering its function.

Nonsense Mutation

A point mutation that creates a premature STOP codon, truncating the protein.

Frame-Shift Mutation

Mutations caused by insertions or deletions that shift the reading frame of codons.

Mutagen

Environmental factors that can cause mutations in DNA.

Thymine Dimers

Covalent bonds between adjacent thymine bases caused by UV light, distorting DNA and preventing replication.

Base Excision Repair (BER)

DNA repair mechanism that fixes small damaged bases.

Nucleotide Excision Repair (NER)

Repair mechanism that fixes bulky lesions and thymine dimers.

Lactose Intolerance

Inability to digest lactose due to the lactase gene being turned off in adults.

CRISPR-Cas9

A gene-editing tool that uses a bacterial enzyme to cut DNA at specific sites.

AlphaFold

An AI model that predicts the 3D structure of proteins from their amino acid sequences.

Mutation Rate in Humans

Approximately 2-3 mutations per cell division, leading to about 100 new mutations per generation.

Amino Acid Polarity Change

Alterations in amino acids that can affect protein folding and function.

Tay-Sachs Disease

A condition caused by a 4-base pair insertion disrupting enzyme function, leading to neurodegeneration.

Sickle Cell Disease

A genetic condition caused by a missense mutation in the HBB gene, affecting hemoglobin and red blood cell shape.

Paxlovid

A COVID-19 treatment that inhibits viral protease, preventing the virus from functioning effectively.

Molnupiravir

A COVID-19 drug that introduces errors in viral RNA, increasing mutability.

Cystic Fibrosis

A genetic disorder caused by a deletion in the CFTR gene, leading to misfolded proteins.