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Why Do Different Human Populations Have Different Allele Frequencies For Many Genetic Loci?
Why Do Different Human Populations Have Different Allele Frequencies For Many Genetic Loci?
Why Do Different Human Populations Have Different Allele Frequencies For Many Genetic Loci?
• Genetic drift
• Founder effects
• Mutation
• Selection
Genetic Drift
aa AA
Aa AA aa AA
aa AA Aa AA
Aa aa
aa Aa AA AA
Aa AA Aa aa
Aa Aa AA
Aa Aa AA
Aa Aa aa Aa Aa
Aa Aa AA
Aa AA
Aa AA AA Aa
aa Aa AA
aa aa
Founder Effect
initial new
population
population
with high
frequency of
mutant allele
"bottleneck" Aa
where AA AA AA
AA
AA AA
new population is Aa
Aa
AA AA AA
derived from Aa
AA AA AA
small Aa AA AA
AA
sample
When Two Populations Mix--How
Long Does It Take To Reach
Equilibrium if all Hardy-Weinberg
conditions are met?
Population 1 Population 2
all AA all aa
[AA] = x
[aa] = y
x+y=1
Mating Type Frequency Outcome
AA x AA x2 All AA
AA x aa 2xy All Aa
aa x aa y2 All aa
[AA] = x2 = p2
Equilibrium in achieved in one
[Aa] = 2xy = 2pq generation for an autosomal trait
[aa] = y2 = q2
Hemoglobinopathies and
Thalassemias
• Mutations which alter the function of either
the alpha or beta globin genes
• Hemoglobinopathies--mutations which cause
a change in primary structure of one of the
globin chains--over 700 known
• Thalassemias--mutations which alter the level
of expression of one of the globin chains--
over 280 known
Globin Chain Synthesis
amount
6 12 18 24 30 36 birth 6 12 18 24 30 36 42 48
prenatal postnatal
weeks of life
5' 3'
G A
5' 3'
5' 3'
exon 1 intron exon 2 intron 2 exon 3
1
2 2 2
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The TATA box is an important sequence for most eukaryotic
promoters because it binds the key transcription factor TBP
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• AATAAC
Capping the 5′End. Caps at
the 5′end of eukaryotic
mRNA include 7-
methylguanylate (red)
attached by a triphosphate
linkage to the ribose at the
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5′end. None of the riboses
are methylated in cap 0, one
is methylated in cap 1, and
both are methylated in cap 2.
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