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gregor mendel
father of modern genetics
three main lessons from pea plant experiments
inheritance of each trait is determined by discrete “units” or “factors” that are passed on to descendants unchanged
an individual inherits one unit from each parent for each trait
a trait may not show up in an individual but can still be passed on to the next generation
particulate inheritance
variants do not blend with each other, remain different particles
law of segregation
traits are inherited as discrete units, recessive masked but preserved
law of independent assortment
alleles are transmitted from parent to offspring independent of other particles
genes vs. alleles
genes = units
alleles = variants
DNA
double helix structure
A + T, C + G
23 chromosome pairs (22 autosomes, 1 gender pair)
mitochondrial DNA = only maternal
types of genes (4)
structural = code for tissues
regulatory = turns genes on/off
locus = gene location on chromosome
alleles = 1-20 versions
codominance example
codominance = both alleles equally dominant, both expressed
blood types
phenotypes: A, B, AB, O
genotypes: AO, AA, BO, BB, AB, OO
prokaryotes
no nucleus (bacteria)
eukaryotes
have nucleus (humans)
somatic cells
46 chromosomesg
gametes
23 chromosomes (haploid)
cell division and variation
mitosis: identical somatic cells
meiosis: gametes, crossing over, recombination, variation
haplotypes: linked genes inherited together
4 forces of evolution
mutation: random DNA base changes, source of new variation, must occur in gametes to matter
gene flow (migration): movement of genes between populations, increases similarity, reduces speciation
genetic drift: random allele frequency change, strongest in small populations (founder effect, bottlenecks reduce diversity)
natural selection: differential reproductive success
three types of natural selection
directional: one extreme favored
stabilizing: average favored
disruptive: extremes favored, possible speciation
population genetics
deme: interbreeding group
gene pool: all alleles in a population
allele frequency: proportion of allele in population
evolution measurable through changes in allele frequencies
hardy-weinberg equilibrium
p + q = 1
p² + 2pq + q² = 1
assumptions: no mutation, migration, selection, drift, or non-random mating
if observed does not equal expected, evolution is occurring
natural selection in humans
sickle cell and malaria
AA = normal
AS: heterozygote advantage (malaria resistance)
SS: sickle cell anemia