GENE210/GENE410 Introductory Genetics Revision Questions Weeks 10-12

Vocabulary study set based on revision questions for Introductory Genetics, focusing on population genetics, quantitative genetics, and genomics terminology.

Hardy Weinberg equilibrium (HWE)

A mathematical relationship that describes the relationship between allele frequencies and genotype frequencies in a population that is not evolving.

Population

A group of individuals of the same species that live in the same geographic area and have the potential to interbreed.

Gene pool

The total collection of all the alleles for all the loci in all the individuals of a population.

Polymorphism

The occurrence of two or more clearly different phenotypes or alleles for a trait existing in a population at a frequency higher than can be maintained by mutation alone.

Heterozygosity

A measure of genetic variation in a population, representing the proportion of individuals that are heterozygous for a particular locus.

Selection

The process by which certain heritable traits become more or less common in a population due to differential survival and reproduction of individuals.

Fitness

The relative contribution an individual makes to the gene pool of the next generation, often denoted as $w$.

Selection coefficient

A measure of the relative intensity of selection against a specific genotype, denoted as $s$, where $w = 1 - s$.

Genetic drift

A change in allele frequencies in a population from generation to generation that occurs due to chance events rather than selection.

Bottleneck

A sharp reduction in population size for at least one generation, often resulting in reduced genetic variation in subsequent generations.

Founder effect

A form of genetic drift that occurs when a small number of individuals leave a large population to establish a new population, potentially carrying only a fraction of the original genetic diversity.

Quantitative Trait Loci (QTL)

Specific regions of the genome that are associated with the variation of a quantitative trait, often identified through mapping studies.

Genome wide association study (GWAS)

An experimental approach used to associate genetic variations, typically SNPs, with particular phenotypic traits by scanning the entire genome of many individuals.

Single Nucleotide Polymorphism (SNP)

A variation in a single base pair in a DNA sequence among individuals of the same species.

Frequency-dependent selection

An evolutionary process where the fitness of a phenotype or allele depends on its frequency relative to other phenotypes in a given population.

Inbreeding

A form of non-random mating involving individuals that are more closely related than average, which increases homozygosity across the genome.

Qualitative traits

Traits that exhibit discrete, categorical phenotypes often controlled by one or a few genes (e.g., presence or absence of a feature).

Quantitative traits

Traits that show continuous variation in a population and are typically influenced by many genes and environmental factors.

Narrow sense heritability ($h^2$)

The proportion of phenotypic variance in a population that is attributable to additive genetic variance.

Estimated Breeding Value (EBV)

A value that predicts the genetic merit of an individual animal for a specific trait, calculated as $h^2 \times (P - \text{average } P)$.

Variable Number Tandem Repeat (VNTR)

A location in the genome where a short nucleotide sequence is organized as a tandem repeat, such as the $GTG$ repeat, with different alleles having different numbers of repeats.

Structural genomics

The study of the physical structure of the genome, including the mapping and sequencing of DNA.

Functional genomics

The study of how the components of a genome (genes and non-coding regions) contribute to biological processes and phenotypes.

Comparative genomics

The study of comparing human and other animal genomes to identify similarities and differences to understand evolution and function.