DNA Repair, Mutagenesis and Human Disease Lecture 9 Flashcards

These flashcards cover key vocabulary terms and definitions related to DNA repair mechanisms and their implications in human diseases.

DNA Repair

The cellular processes that correct DNA damage to maintain genome integrity.

Mutagenesis

The process by which genetic information is changed (mutated), resulting in a mutation.

Nucleotide Excision Repair (NER)

A DNA repair process that removes bulky DNA adducts and repairs distortions in the DNA helix.

Base Excision Repair (BER)

A cellular mechanism that repairs damaged DNA by removing and replacing individual nucleotides.

Mismatch Repair (MMR)

A DNA repair system that recognizes and corrects mismatches that occur during DNA replication.

Transcription-Coupled Repair (TCR)

A mechanism that selectively repairs DNA lesions on the template strand of actively transcribed genes.

Recombination Repair

A process that repairs DNA double-strand breaks by using homologous sequences as templates.

Direct Reversal Repair

A repair mechanism that directly restores damaged DNA without removing bases.

Xeroderma Pigmentosa (XP)

A genetic disorder characterized by an extreme sensitivity to ultraviolet light due to defects in nucleotide excision repair.

Cockayne Syndrome

A rare genetic disorder that affects the body's ability to repair DNA damage, leading to growth failure and neurological problems.

Ataxia Telangiectasia

A genetic disorder causing progressive neurological problems and increasing cancer susceptibility, caused by defects in DNA repair.

Fanconi Anemia

A genetic disorder leading to cancer susceptibility and bone marrow failure, linked to defective DNA repair processes.