Genetic Variation and Population Genetics

Flashcards covering genetic variations, tandem repeats, single nucleotide polymorphisms, allele frequency calculations, and the molecular basis of evolution.

Microsatellite

A variable number tandem repeat (VNTR) consisting of a repeat sequence of between 1 and 9 base pairs repeating head-to-tail.

Mini satellite

A variable number tandem repeat (VNTR) consisting of a repeat sequence of 10 base pairs up to about 100 base pairs repeating head-to-tail.

Copy Number Variant (CNV)

A segment of genomic DNA typically between 500 base pairs and 1 million base pairs that is either duplicated head-to-tail or deleted relative to a standard genome.

Polymorphism

A genomic sequence variant present in a population at a common allele frequency greater than 1%.

Single Nucleotide Polymorphism (SNP)

A position in the genome where a single nucleotide pair differs between individuals, occurring roughly once every 1,000 base pairs.

Allele Frequency

The proportion of a specific allele in a population, defined as the total number of that allele divided by the total number of all alleles present for that locus.

Biallelic Equation

The formula $p + q = 1$, where $p$ represents the allele frequency of one allele and $q$ represents the allele frequency of the alternate allele in a biallelic locus.

Evolution (Molecular Definition)

Defined by Dobzhansky in 1975 as a change in allele frequency within a gene pool over time.

Hardy-Weinberg Principle

A mathematical rule that predicts the genotype frequencies at which allele frequencies in a population remain stable over time.