DNA Mutations CH 15

These flashcards cover key terminology and concepts related to DNA mutations discussed in the lecture.

Mutation

A heritable change in the sequence of DNA.

Mutation types

Somatic mutation and Germ-line mutation.

Base substitutions

Point mutations that can be transitions or transversions.

Transitions

A type of base substitution where a purine is replaced by another purine, or a pyrimidine is replaced by another pyrimidine.

Transversions

A type of base substitution where a purine is replaced by a pyrimidine or vice versa.

Indel mutations

Insertions or deletions of bases in the DNA sequence.

Synonymous mutations

Mutations that do not change the amino acid sequence of a protein (silent mutations).

Non-synonymous mutations

Mutations that change the amino acid sequence of a protein.

Missense mutation

A non-synonymous mutation where one amino acid is replaced by another.

Nonsense mutation

A mutation that creates a stop codon, leading to premature termination of protein synthesis.

Frameshift mutation

Mutations caused by insertions or deletions that changes the reading frame of the DNA.

Spontaneous mutations

Mutations that occur without external influence, due to errors in DNA replication or cellular processes.

Induced mutations

Mutations that result from exposure to external agents or chemicals.

Tautomerization

A process where bases exist in different tautomeric forms, potentially leading to base pairing errors.

Depurination

The loss of a purine base from the DNA, which can lead to mutations.

Deamination

The removal of amino groups from bases, which can result in base changes and mutations.

Human genetic diseases

Diseases caused by mutations, such as Sickle cell disease and Huntington's disease.

Germ-line mutation

A mutation that can be passed from generation to generation through gametes.

Somatic mutation

A mutation that occurs in non-reproductive cells and cannot be passed to offspring.

Mutant Ras protein

A protein associated with approximately 30% of human cancers.

DNA repair mechanisms

Processes that correct damaged DNA, such as direct reversal or multi-step repair pathways.

Reactive oxygen species

Chemicals that may damage DNA and lead to spontaneous mutations.