DNA Mutation & Repair

These flashcards cover key vocabulary related to DNA mutation and repair mechanisms, their effects, and related genetic concepts.

Mutation

A change in the DNA sequence that is passed to descendants, resulting in an inherited change.

Spontaneous Mutation

Mutation that appears to occur naturally without external factors.

Induced Mutation

Mutation that is caused by external environmental factors known as mutagens.

Transposable Element

Sequences of DNA that can move throughout and between chromosomes, contributing to genomic variability.

Homologous Recombination

A mechanism to repair double strand breaks in DNA using a homologous sequence as a template.

Nucleotide Excision Repair (NER)

Repair mechanism that removes multiple nucleotides from DNA, correcting significant distortions such as pyrimidine dimers.

Mismatch Repair (MMR)

Mechanism that corrects base mismatches and strand slippage loops that occur during DNA replication.

Loss of Function Mutation

A mutation that reduces or eliminates the function of the gene product.

Gain of Function Mutation

A mutation that enhances the function of the gene product, possibly creating a new function.

Chemical Mutagen

A substance that can cause mutations by chemically altering DNA, such as base analogs or alkylating agents.

Mutagenesis

The process by which mutations are generated in an organism's DNA.

Xeroderma pigmentosum (XP)

A genetic disorder that greatly increases a patient's sensitivity to sun exposure due to defects in the NER pathway.

BruCA1 Mutation

A mutation in the BRCA1 gene associated with increased risk of breast and ovarian cancer.

Somatic Mutation

A mutation that occurs in non-reproductive cells and is not passed on to offspring.

Germline Mutation

A mutation that occurs in gametes and can be passed on to the next generation.