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Summary Population genetics

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Iselinge Hogeschool Doetinchem (Iselinge)

This document provides in-depth knowledge on population genetics and Hardy-Weinberg equation.

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Population-
Group of individuals belonging to the same species.

Mendel’s law-
explained how genes are passed from parents to offspring in case of controlled crosses. This doesn’t
represent full population.
Population genetics-
Analyses amount and distribution of genetic variation in populations and the forces that control this
variation. This is in a more natural population where not all individuals produce offspring and not all
offsprings.

Detecting genetic variation (also organelle genome)-
Locus is location on genome, can be single nucleotide or stretch of nucleotides.

Single nucleotide polymorphisms (SNP) are variants in a given locus.
● Can be in exons (protein coding regions than SNP can be classified into synonyms, non
synonyms or nonsense), intron, or even regulatory regions (non-coding SNP that can be further
classified into silent ncSNP that can address geen flow b/w populations). Only in some cases
causes change in proteins and phenotype.
● Common SNP are SNP in a population where less common allele occurs 5% or greater. Rare SNP
occurs 5% or less. In humans rare SNP are more frequent than common.
● Need to sequence genome to discover SNP, DNA microarrays used to determine the genotype
sequence of different individuals of a population at SNP by using many known SNP probes. Each
spot is labelled with particular fluorescence tag color.
Indel polymorphisms (don’t contain repeats like microsatellites), inversion, transposable element also
exist.

Microsatellite is a loci with 2-6 base sequence long hat is repeated multiple times, the number repeats
differ b/w the alleles. Eg- 2-bp-sequence, tandem repeats.
● They are powerful loci as-
○ can have more than four alleles per locus but SNP have two alleles
○ have high mutation rate per generation compared to SNP leads to higher variation b/w
individuals/ more alleles per locus. Slippage as repeats
○ Abundant in most genomes and found throughout the genome. Most microsatellites are
located outside the coding region, therefore not associated with phenotypes.

● The microsatellites can be discovered by creating genomic library, probe with interested
sequence/ motif screens the library. Fluorescently labeled primers are designed to match flanking
sequences near microsatellite used in PCR.

, Haplotypes are combination of alleles at multiple loci on same chromosomal homolog. If two
homologous chromosomes, even differ in one genotype than they will be two different haplotypes.

Haplotype network- shows relationship b/w haplotypes. Eg- used in star cluster haplotype exists in
8% asian men, present-day distribution of this haplotype follows the geographic boundaries of the
Mongolian Empire established by Genghis Khan about 1200 years ago.

HapMap project-

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