Lecture 01

• mutation

• selection

• migration

• genetic drift

• recombination

• Germ line mutations are present in all cells and are thus inherited and happen during conception

• Somatic mutations happend during the individuals lifetime

  • can also be due to epigenetic changes

• Having 2 full sets of chomosomes

  • 1 maternal

  • 1 paternal copy

• operational def of a specific position in the genome

  • singlr bp, sequence or gene

• 2 or more variant forms of DNA sequence at the same locus accross a population

• The factor for how dominant an allele is

• h=1 recesive : Having 2 such alleles means that it is expressed

• h=1/2 additive

• h=0 dominant : Having 1 such allele means it is expressed

• mutation -> genotype -> genetic architectutre recombination -> phenotype -> selection

• Desamination

  • GC -> AT

• Pyrimidine-dimers

  • -> replication errors

• Insertions / deletion

• Duplications

• Inversions

• Translocations

• Fission Fussion

• Ploidy Changes ( e.g. trisomie 21)

• Pedigree-based

  • count mutations that have not existed in the parents

• experimental evolution

  • count mutations after n generations in all lines and compare to orginal control divide by number of generations

  • propably underestimate due to lethal muation along the way (can’t measure dead)

• comparative genetics

  • e.g. t = 5mya | k = 2ut | solve for u

  • align genomes and count mutations to get k

• unit of u = substitutions / site / year

No it differes among:

• locus

• organisms

• sex

Mutations are random and follow the poisson distribution

• Having 2 populations with different genotypes in the same individual

• More new mutations are transmitted through male sprem, than through eggs

• X chromosome has different mutation rate than autosomes

  • genes on autosomes spend equal amounts in M / F

  • X chromosome 2/3 in F 1/3 in M

• Y chromosome has higgest mutation rate