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18 Cards in this Set

  • Front
  • Back
Allele frequences for the Hardy Weinberg Equilibrium Principle
p = freq of A (dominant)
q = freq of a (recessive)
p + q = 1
What is the frequency for heterozygotes?
2pq
What is the frequency for the dominant trait?
p2 + 2pq
Why is the H-W an equilibrium?
The equilibrium of the alleles stays the same throughout the population
Assumption of the H-W equilibrium
1. 2 alleles
2. Random mating
3. Large population
4. No migration, new mutations, natural selection
X-linked genes
Males have 1/3 of all x alleles and females have 2/3 of all x alleles

For affected males, phenotype frequency equals q.
Non-random mating
pple do not generally mate randomly.
1. Pple mate w/ those of the same ethnicity
2. pple do not mate w/ pple far away
3. Assortive mating-pple choose a mate based on some commonality.
4. Consanguinity
mating between pple with increased relatedness increases the chances of retention of recessive traits in a population.
Consanguinity
Traits that kill individuals before mating occurs and prevents alleles from being passed on.

Homozygous traits
Negative selection
Heterozygous advantage
-Maintains alleles
Some autosomal recessive traits are negative but confer advantage to the heterozygote.
-ie: Sickle cell trait, resistant to malaria
-Heterozygotes keep the trait at a higher frequency than expected.
new mutation
New alleles in a population do occur
Genetic Drift & Founder Effect
If the pop. splits, there may be more mutants in oen pop. than other
Drift down
If there are more mutations
Drift up
If some mutations disappear
Founder effect (a special case of drift)
Population bottleneck (small group splits off)
Migration
This is not necessarily physical movement of an entire population

This can occur into a population or out of a population
Bias of ascertainment
Did we really count accurately

-Some do not represent phenotypically, dec. penetrance, phenocopies, and inaccurate reporting
List the factors that affect the HW equilibrium?
1. Nonrandom mating
2. Selection Pressure
Negative selection
Heterozygous advantage
3. New mutations
4. Genetic Drift & Founder effect
5. Migration
6. Bias of ascertainment