Genetic Variation and Mutations

These flashcards cover key vocabulary terms related to genetic variation, mutations, and their implications in genetics.

Insertion

A mutation involving the addition of one or more nucleotide base pairs into a DNA sequence.

Deletion

A mutation that removes one or more nucleotide base pairs from a DNA sequence.

Duplication

A mutation that results in the repetition of a segment of DNA, leading to two copies of that region.

Inversion

A mutation where a segment of DNA is reversed within the chromosome.

Translocation

A chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.

Aneuploidy

An abnormal number of chromosomes in a cell, such as monosomy and trisomy.

Nondisjunction

The failure of homologous chromosomes or sister chromatids to separate properly during cell division.

Somatic Mutation

A mutation that occurs in non-reproductive cells, not passed on to the next generation.

Point Mutation

A mutation affecting a single nucleotide in a DNA sequence.

Synonymous Mutation

A point mutation that does not change the amino acid sequence of the protein.

Non-synonymous Mutation

A point mutation that results in a change in the amino acid sequence of a protein.

Frameshift Mutation

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

Regulatory Mutation

A mutation that alters the regulation of gene expression without changing the protein coding sequence.

Phenotype

The set of observable characteristics or traits of an organism.

Copy Number Variation (CNV)

A phenomenon where segments of the genome are repeated and the number of repeats varies between individuals.

Olfactory Receptor Genes

Genes that are responsible for the sense of smell, often subject to mutations and duplications.