Population Genetics: A Concise Guide

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Genetic markers : any trait used as a marker of genetic variation with in and among individuals and taxa. Traits used include phenotypic traits eye color , protein products allozymes , albumin , and segments of the DNA. One might use a particular genetic marker as a diagnostic trait is this meat a legal elk or Rancher Smith's prize bull?

Population Genetics: When Darwin Met Mendel - Crash Course Biology #18

Different genetic markers e. Genome size: The genome is the collective term for all the complement of hereditary material found in an organism e. Mammals have approximately X 10 9 bp. Although polyploidy can increase genome size, most increase seems to be due to relatively small duplication events because genome sizes within taxa tend to be approximately normally distributed around an intermediate modal size. Genotype : The set of DNA variants found at one or more loci in an individual. The information from which genotypes are developed could include allozyme alleles , microsatellite alleles, or sequence information we then usually refer to haplotypes.

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Haploid: having a single complement of chromosomes. See diploid. See Gillespie p. Heterogametic sex: the sex whose sex chromosomes are different from each other. In mammals, most other vertebrates and most insects, males are the heterogametic sex XY , whereas in birds, lepidopterans, and some fish it is females WZ. Chromosomal sex determination is not universal alternatives are phenotypic and allelic sex determination. Heterozygosity expected : An individaul or population-level parameter. The proportion of loci expected to be heterozygous in an individual ranging from 0 to 1.

H O observed heterozygosity is the observed proportion of heterozygotes, averaged over loci. Homology: having the same origin used for genes or characters deriving from a common ancestor. Homoplasy: similarity of traits or genes for reasons other than coancestry e. Homoplasy violates a basic assumption of the analysis of genetic markers -- variants of similar phenotype e. Homoplasy: The Recurrence of Similarity in Evolution. HWE : see Hardy-Weinberg. Hypervariability: High degree of variation among individuals within local populations at a given genetic marker.

Examples of hypervariable markers include minisatellites and microsatellites. Independent assortment: During gamete formation segregating pairs of unit factors e. As a result, one can use multiplicative probabilities to compute multi-trait or multigene phenotypes or genotypes. Linkage disequilibrium can prevent the expected probabilities from being realized. Individualization: buzzword largely restricted to forensics applications to embrace the idea that molecular markers can facilitate distinguishing individuals.

Intron: DNA sequences within the protein-coding sequences of a gene; introns are transcribed into mRNA but are cut out of the message before it is translated into protein. Introns may contain sequences involved in regulating expression of a gene. See exon.

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Isolate breaking: Excess heterozygosity over Hardy-Weinberg expectation observed when divergent populations or subpopulations establish secondary contact. The opposite of the Wahlund effect. In some cases, isozymes may be multimers produced by multiple genes. They may, therefore, not qualify as codominant allozymes for use as genetic markers.

Ladder: A series of known-size fragments run in a gel to allow sizing of fragments of target DNA run in other lanes. One commonly used ladder is phage lambda cut with a restriction enzyme [yields fragments of , , , and bp ]. Lambda: Lambda l phage DNA is a useful tool in molecular biology. It is also a useful cloning vector.

Extending Tests of Hardy–Weinberg Equilibrium to Structured Populations

Locus : from the Latin for 'place'. A stretch of DNA at a particular place on a particular chromosome — often used for a 'gene' in the broad sense, meaning a stretch of DNA being analyzed for variability e. Marker: see Genetic marker. Microsatellites : Short tandem repeats e. The apparent mutation process is by slippage replication errors, where the repeats allow matching via excision or addition of repeats. Because this sort of slippage replication is more likely than point mutations, microsatellite loci tend to be hypervariable.

The usual procedure is to use an oligo e. Alternative name is SSTR simple sequence tandem repeat. Migration : In population genetics, migration means the permanent movement of genes into or out of a population. Thus, a 'migrating' warbler does not cause any migration in the genetic sense by moving from breeding grounds in Wyoming to wintering grounds in Mexico and then returning to breed in the same Wyoming locale.

We refer to the process of genes moving among populations as gene flow.

Assessing minimum viable population size: demography meets population genetics. Minisatellites: [see VNTR]. Segments of repeated DNA often used as genetic markers for individual identification forensic DNA 'fingerprinting' or analyses of relatedness. Can be either single- or multi- locus. Minisatellite technology relies on probe -based hybridization. Advantages include lack of need for specific primers and hypervariability. Disadvantages include inability to use PCR amplification, the need for Southern blotting , and, for multi-locus minisatellites, the lack of locus-specificity making population genetic analyses difficult.

Molecular clock hypothesis: Hypothesis that molecular change is linear with time, and constant over different taxa and in different places. If that is so, then the sequence difference between homologs in different taxa can be used to estimate time since divergence. Monophyletic group clade : Evolutionary assemblage of taxa that includes a common ancestor and all of its descendants.

Sequencing of mtDNA is a widely used technique in systematics. The mostly maternal, clonal transmission of mt-DNA provides both opportunities and problems for phylogenetic analysis. N e : Effective population size.

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  6. Usually, N e will be less than N the census population size in natural populations. N e is a fundamental component of many population genetics formulations. Often, however, it is found in the term 4 N m or 4 N m mutation or migration respectively and hence cannot be estimated by itself.

    Hartl's primer of population genetics has a useful summary on pp. Non- synonymous substitution: A nucleotide substitution mutation that results in a different amino acid.


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    More likely for first and second position codons. DNA nucleotides consist of a nitrogenous base, a deoxyribose sugar and a phosphate group. OTU: Operational taxonomic unit. Examples include populations, species, genera, and families. For phylogenetic analyses, the OTUs will be terminal taxa i. Outgroup: Taxon phylogenetically outside the clade of interest the ingroup. When one uses an outgroup in phylogenetic inference, the ingroup is implicitly assumed to be monophyletic.

    Panmixia: Absence of any differentiation among subpopulations because of high levels of gene flow , creating effectively one single large population with no internal structure. The adjective is panmictic. PCR : polymerase chain reaction. Technique for amplifying nucleic acids in a thermal cycler. Involves use of forward and reverse primer pairs that start off the reaction. End yield is many orders of magnitude more DNA of the target sequence than one started with.

    A Concise Guide

    The resulting amplified DNA can then be visualized with stains or radioactive labeling, or sized with fluorescent markers in a sequencer. Phenotype : the outward expression of a genotype. This "visible" variation might be expressed as coat color in a mouse, as the odor of a secondary compound mint or sagebrush , or as the length of a DNA fragment on an electrphoretic gel. Phylogeography : Study of the patterns of genetic differentiation across landscapes, often involving intraspecific variation and the comparison of patterns across a range of different taxa in the same region phylogenetic biogeography.

    Pioneered by John Avise. Polymerase chain reaction: See PCR. Polyploid: having more than two sets of homologous chromosomes.

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    A common route to speciation in plants. Recently, researchers discovered a polyploid South American rodent. Primer : Short, preexisting single-stranded polynucleotide chain to which new deoxyribonucleotides can be added by DNA polymerase to 'prime' PCR amplification. The primer anneals to a nucleic acid template DNA of the organism of interest and promotes copying of the template, starting from the primer site.