Genetic Mutations Overview

These flashcards cover key concepts and definitions regarding genetic mutations as outlined in the lecture notes.

What is a genetic mutation?

A heritable change in the nucleotide sequence of the DNA.

What are the two cell types where mutations occur?

Germ-line cells and somatic cells.

What are germ-line cell mutations?

Mutations that are passed from parent(s) to offspring.

What are somatic cell mutations?

Mutations that are acquired during development or during life and are not inherited.

What are the three sources of mutations?

Inherited mutations from germ-line cells, spontaneous mutations, and mutations caused by exposure to a mutagen.

What is a mutagen?

A physical or chemical agent that induces changes in nucleotide sequence.

What is a missense mutation?

A mutation that changes the identity of the amino acid.

What is a silent mutation?

A mutation that does not change the identity of the amino acid.

What is a nonsense mutation?

A mutation that changes the amino acid to a stop codon.

What is a frameshift mutation?

Large changes that arise from the insertion or deletion of a nucleotide in the DNA.

What are open reading frames (ORFs)?

Sequences on a strand of mRNA that start with a start codon (AUG) and code for proteins.

What is the impact of a deletion on the ORF?

It results in a change in the open reading frame during translation.

What is a gain of function mutation?

A mutation that results in overactive protein function that cannot be regulated.

What is a loss of function mutation?

A mutation that reduces protein function or results in complete loss of function.

What are genetic disorders?

Diseases caused by genetic mutations, which can be inherited or acquired.

What is Sickle Cell Disease?

A genetic disorder caused by a mutation in the β-globin gene affecting hemoglobin and resulting in abnormally-shaped red blood cells.