Mutations and Gene Expression

These flashcards cover key concepts related to mutations, their effects on genetic traits, and examples of genetic disorders.

Mutation

A change in the DNA sequence that can affect an organism's traits.

Heritable mutations

Mutations that can be passed from parent to offspring.

Somatic mutations

Mutations occurring in body cells that are not passed to offspring.

Germline mutations

Mutations that occur in gametes and can be passed to offspring.

Spontaneous mutations

Mutations that occur without external influence.

Induced mutations

Mutations that result from environmental factors such as chemicals or radiation.

Mutational hotspots

Regions of the genome that are more susceptible to mutation.

Transitions

A type of substitution mutation where one purine base is swapped for another or one pyrimidine is swapped for another.

Transversions

A type of substitution mutation where a purine is swapped for a pyrimidine or vice versa.

Insertion mutation

A mutation in which one or more bases are added to the DNA sequence.

Deletion mutation

A mutation in which one or more bases are removed from the DNA sequence.

Frameshift mutation

A mutation that alters the reading frame of the gene, often caused by insertions or deletions.

Nonsense mutation

A mutation that introduces a premature stop codon, leading to truncated proteins.

Missense mutation

A mutation that changes one amino acid in a protein sequence but allows for a full-length protein.

Silent mutation

A mutation that does not alter the amino acid sequence of a protein.

Loss of function mutations

Mutations that result in reduced or abolished protein function.

Oncogene

A gene that promotes cell division; mutations can lead to cancer.

Tumor suppressor gene

A gene that inhibits cell division; mutations can lead to uncontrolled growth.

Gene therapy

A technique that modifies genes to treat or prevent disease.

Linkage analysis

A method used to identify the location of genes related to a specific phenotype.

Phenylketonuria (PKU)

A genetic disorder caused by a mutation in the phenylalanine hydroxylase enzyme which affects metabolism.

Duchenne muscular dystrophy

A genetic disorder caused by large deletions on the x chromosome affecting muscle protein production.

Fragile X syndrome

A genetic condition caused by an expanding triplet repeat in the FMR1 gene, affecting mental development.