Genetic and Organic Syndromes & Population Genomics

Vocabulary flashcards reviewing genetic variation, chromosomal mutations, gene mutations, mosaicism, population genetics, and genomics concepts.

Recombination

The collective processes of independent assortment of chromosomes, fertilization, and crossing over that generate genetic variation.

Somatic Mutations

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

Gamete Mutations

Mutations occurring in egg or sperm cells that are passed on to offspring.

Mutagen

An outside factor or agent, such as sunlight or radiation, that causes genetic mutations.

Chromosomal Deletion

A chromosomal mutation caused by breakage in which a piece of a chromosome is lost.

Chromosomal Inversion

A chromosomal mutation where a segment breaks off, flips around backwards, and reattaches to the chromosome.

Chromosomal Duplication

A chromosomal mutation that occurs when a gene sequence or section of DNA is repeated.

Chromosomal Translocation

A mutation involving non-homologous chromosomes where part of one chromosome is transferred to another.

Nondisjunction

The failure of homologous chromosomes or sister chromatids to separate during meiosis, leading to gametes with abnormal chromosome numbers.

Aneuploidy

A condition characterized by having any deviant number of chromosomes.

Polyploidy

A genetic condition in which an organism possesses more than two homologous chromosomes.

Monosomy

An aneuploid condition where a cell has only 1 copy of a chromosome instead of 2, such as in Turner syndrome.

Trisomy

An aneuploid condition where a cell has 3 copies of a chromosome instead of 2, such as in Down Syndrome.

Point Mutation

A gene mutation that involves a change in a single nucleotide, including insertion, deletion, or substitution of one nucleotide.

Sickle Cell Disease

A disease resulting from a single nucleotide substitution in the gene coding for hemoglobin.

Frameshift Mutation

A gene mutation caused by the insertion or deletion of nucleotides that shifts the reading frame and leads to incorrectly constructed proteins.

Mosaicism

A condition caused by a mitotic mutation early in development, leading to different cell populations with distinct genetic makeup within the same individual.

Gene Flow

The transfer or movement of genes between two distinct populations.

Genetic Drift

A random shift in the gene pool or allele frequencies of a population over time.

Founder Effect

A phenomenon of genetic drift occurring when a new population is established by a small sample of individuals separated from a larger mother population.

Genome

The complete genetic code of an organism.

Haplogroup

A lineage group within a species that shares a specific inherited ancestral mutation.