The document discusses how to measure the evolution of populations using the Hardy-Weinberg principle of equilibrium. It explains that the Hardy-Weinberg equilibrium serves as a model for a non-evolving population that can be used to measure if evolutionary forces are acting on a real population. It provides the formulas for calculating allele and genotype frequencies in a population at equilibrium. An example problem applies the Hardy-Weinberg equation to calculate genotype frequencies in a population of cats. The document also discusses how the principle can be applied, using sickle cell anemia and malaria as an example of heterozygote advantage maintaining a harmful allele in a population.
The document summarizes a case of a 16 month old female patient named Naseeba who presented with pallor and difficulty breathing for the past month and 5 days respectively. She was diagnosed with thalassemia major based on her history of severe anemia requiring regular blood transfusions since 8 months of age. Her examination revealed signs of severe anemia, failure to thrive, and secondary malnutrition. The discussion section provided an overview of thalassemia including pathogenesis, classification, management with regular blood transfusions and chelation therapy, as well as complications. It emphasized the importance of lifelong management, counseling, and screening to improve quality of life for patients with thalassemia major.
This document discusses non-transfusion dependent thalassemia (NTDT), including HbE/β thalassemia. It classifies HbE/β thalassemia into severe, moderate, and mild based on hemoglobin levels and clinical symptoms. It also discusses transfusion therapy for NTDT, indicating when regular transfusions should start based on hemoglobin drop, organ enlargement, and other factors. The document further discusses chelation therapy for managing iron overload in NTDT, covering various chelating agents like deferoxamine, deferiprone, and deferasirox.
This document discusses thalassemia, an inherited blood disorder characterized by reduced or absent hemoglobin. There are two main types: alpha thalassemia affects hemoglobin production; beta thalassemia has four forms ranging from mild (trait) to severe (major). Symptoms include anemia, fatigue, bone changes. Treatment involves blood transfusions, iron chelation therapy, and potentially splenectomy or bone marrow transplant.
Alpha thalassemia is caused by mutations in the genes responsible for producing alpha globin, resulting in excessive destruction of red blood cells and anemia. It is characterized by mild to severe anemia, enlargement of the liver and spleen, and other symptoms. Treatment involves regular blood transfusions, folic acid supplements, and iron chelation therapy. Bone marrow transplant may cure severe cases. Beta thalassemia is caused by mutations in the beta globin gene and is characterized by severe anemia and other symptoms from an early age. Treatment focuses on blood transfusions and iron chelation therapy.
La anemia falciforme es una enfermedad genética que causa que los glóbulos rojos adquieran una forma de hoz y obstruyan los vasos sanguíneos, dificultando la circulación, lo que puede provocar dolor, dificultad para respirar y complicaciones cardíacas. Se produce por una mutación en el gen de la hemoglobina que hace que ésta se deforme a baja tensión de oxígeno y los glóbulos rojos cambien de forma.
Here are the steps to solve this problem using Hardy-Weinberg equilibrium:
1) The frequency of the "aa" genotype is given as 0.36
2) Set up the Hardy-Weinberg equation:
p2 + 2pq + q2 = 1
3) We are given q2 (frequency of "aa" genotype) = 0.36
So q = √0.36 = 0.6
4) p + q = 1
So p = 1 - 0.6 = 0.4
5) Frequency of "a" allele = 2q = 2 * 0.6 = 0.6
6) Frequency of "A" allele = 2
The document summarizes a case of a 16 month old female patient named Naseeba who presented with pallor and difficulty breathing for the past month and 5 days respectively. She was diagnosed with thalassemia major based on her history of severe anemia requiring regular blood transfusions since 8 months of age. Her examination revealed signs of severe anemia, failure to thrive, and secondary malnutrition. The discussion section provided an overview of thalassemia including pathogenesis, classification, management with regular blood transfusions and chelation therapy, as well as complications. It emphasized the importance of lifelong management, counseling, and screening to improve quality of life for patients with thalassemia major.
This document discusses non-transfusion dependent thalassemia (NTDT), including HbE/β thalassemia. It classifies HbE/β thalassemia into severe, moderate, and mild based on hemoglobin levels and clinical symptoms. It also discusses transfusion therapy for NTDT, indicating when regular transfusions should start based on hemoglobin drop, organ enlargement, and other factors. The document further discusses chelation therapy for managing iron overload in NTDT, covering various chelating agents like deferoxamine, deferiprone, and deferasirox.
This document discusses thalassemia, an inherited blood disorder characterized by reduced or absent hemoglobin. There are two main types: alpha thalassemia affects hemoglobin production; beta thalassemia has four forms ranging from mild (trait) to severe (major). Symptoms include anemia, fatigue, bone changes. Treatment involves blood transfusions, iron chelation therapy, and potentially splenectomy or bone marrow transplant.
Alpha thalassemia is caused by mutations in the genes responsible for producing alpha globin, resulting in excessive destruction of red blood cells and anemia. It is characterized by mild to severe anemia, enlargement of the liver and spleen, and other symptoms. Treatment involves regular blood transfusions, folic acid supplements, and iron chelation therapy. Bone marrow transplant may cure severe cases. Beta thalassemia is caused by mutations in the beta globin gene and is characterized by severe anemia and other symptoms from an early age. Treatment focuses on blood transfusions and iron chelation therapy.
La anemia falciforme es una enfermedad genética que causa que los glóbulos rojos adquieran una forma de hoz y obstruyan los vasos sanguíneos, dificultando la circulación, lo que puede provocar dolor, dificultad para respirar y complicaciones cardíacas. Se produce por una mutación en el gen de la hemoglobina que hace que ésta se deforme a baja tensión de oxígeno y los glóbulos rojos cambien de forma.
Here are the steps to solve this problem using Hardy-Weinberg equilibrium:
1) The frequency of the "aa" genotype is given as 0.36
2) Set up the Hardy-Weinberg equation:
p2 + 2pq + q2 = 1
3) We are given q2 (frequency of "aa" genotype) = 0.36
So q = √0.36 = 0.6
4) p + q = 1
So p = 1 - 0.6 = 0.4
5) Frequency of "a" allele = 2q = 2 * 0.6 = 0.6
6) Frequency of "A" allele = 2
Seedcause.org aims to build an efficient global humanitarian help network connecting international schools, students, teachers, alumni and parents. The network allows resources, both intellectual and financial, to be shared across nodes in the network. Each additional node increases the network effect, with more schools providing more benefits. The network provides zero costs, infinite leverage of resources, currency hedging by allowing $400 to feed 150 students for 4 weeks in other countries, and connects communities while allowing focused support of specific causes over large regions.
With 400 euros, 150 students can be fed for 4 weeks. The document discusses seedcause.org, a human network that connects international schools, students, teachers, alumni, and parents to efficiently fund causes across the globe. The network becomes more effective as more schools participate, allowing specific causes to be tackled through immediate, independent, and cost-effective fundraising that leverages donations.
With 400 euros, one could feed 150 students for 4 weeks in the third world. The organization seedcause.org aims to build an efficient global platform to connect causes to funding sources. By growing the network of participants, called nodes, the impact increases as more schools can be supported with the same amount of money. Some advantages include having zero costs, infinite leverage of donations, currency hedging that allows more impact in poorer regions, and enabling specific localized causes to be tackled rapidly in emergencies.
1.14 Why are organisms classified into groups ?netzwellenedu
1. Organisms are classified into taxonomic groups based on their evolutionary relationships and phylogeny to show their ancestry and reflect how they are related through common descent.
2. Comparing biochemical traits like DNA, proteins, and amino acid sequences between organisms provides information about their phylogenetic relationships and can be used to construct cladograms.
3. Classification aims to group organisms in a way that matches their evolutionary history, with organisms more closely related sharing more recent common ancestors placed in the same groups. This allows predictions about unknown traits and links evolutionary history.
The document discusses several hypotheses for the origin of life on Earth, including spontaneous abiogenesis from simple organic molecules and the conditions that existed on early Earth. The early Earth had a reducing atmosphere without oxygen that may have allowed organic molecules to form and persist without breaking down. Processes needed for the first cells to form could have included the production of simple organic molecules from inorganic precursors and their assembly into self-replicating polymers within membrane-bound structures.
Speciation occurs through the formation of new species via the splitting of existing species. Species are created through a series of evolutionary processes where populations become isolated from each other due to barriers like geographic separation. Isolated populations then evolve independently, developing characteristics that prevent interbreeding if they come into contact again, resulting in reproductive isolation and the formation of new species.
The document summarizes the five main mechanisms of evolution: 1) mutation and variation, 2) gene flow, 3) non-random mating, 4) genetic drift, and 5) natural selection. It provides examples for each mechanism and explains how they can lead to changes in populations and speciation over time through processes like genetic mixing, founder effects, bottlenecks, and differential survival based on environmental pressures.
1. Fossils provide direct evidence of descent with modification as they show transitions between different species over millions of years.
2. Comparative anatomy, biochemistry, embryology, and cell biology show that organisms share homologous and analogous traits as well as universal genetic and metabolic processes, indicating common ancestry.
3. Vestigial structures provide evidence of evolution as they are remnants of traits that were functional in ancestral species but no longer serve a purpose in modern organisms.
This document discusses natural selection and provides examples of how it can be observed. It begins by asking how natural selection can be observed and then provides definitions of key terms like selection pressures, selective advantages and disadvantages, and fitness. It then gives examples of types of natural selection like stabilizing, directional, and disruptive selection. The document also discusses sources of genetic variation like mutation, recombination, and sex and how these contribute to the raw material upon which natural selection acts. Specific examples are given of antibiotic resistance in bacteria and DDT resistance developing in mosquito populations.
Evolution explains the diversity of life through natural selection. Charles Darwin observed diversity among species on the Galapagos Islands and developed the theory of evolution by natural selection. His theory proposed that species evolve over generations through natural variation, reproduction, and the survival and reproduction of individuals best suited to their environment. Modern evolutionary theory, known as neo-Darwinism, has incorporated genetics and molecular biology and shown that natural variation arises via mutations in reproductive cells.
The document discusses how artificial selection can be used to improve organisms based on the principle of natural selection. It describes selective breeding as the process where humans choose which individuals are allowed to breed based on desired characteristics, while preventing others from breeding. This allows alleles for favored traits to be retained over generations, while eliminating undesirable traits. Selective breeding has been used to create diverse breeds and varieties from ancestral species like wolves and mustard plants. The document also discusses inbreeding as focused breeding between closely related individuals, which can reduce genetic diversity and cause problems if homozygosity becomes complete. Outbreeding using distinct genetic strains is presented as an alternative to create hybrids with superior traits.
Seedcause.org aims to build an efficient global humanitarian help network connecting international schools, students, teachers, alumni and parents. The network allows resources, both intellectual and financial, to be shared across nodes in the network. Each additional node increases the network effect, with more schools providing more benefits. The network provides zero costs, infinite leverage of resources, currency hedging by allowing $400 to feed 150 students for 4 weeks in other countries, and connects communities while allowing focused support of specific causes over large regions.
With 400 euros, 150 students can be fed for 4 weeks. The document discusses seedcause.org, a human network that connects international schools, students, teachers, alumni, and parents to efficiently fund causes across the globe. The network becomes more effective as more schools participate, allowing specific causes to be tackled through immediate, independent, and cost-effective fundraising that leverages donations.
With 400 euros, one could feed 150 students for 4 weeks in the third world. The organization seedcause.org aims to build an efficient global platform to connect causes to funding sources. By growing the network of participants, called nodes, the impact increases as more schools can be supported with the same amount of money. Some advantages include having zero costs, infinite leverage of donations, currency hedging that allows more impact in poorer regions, and enabling specific localized causes to be tackled rapidly in emergencies.
1.14 Why are organisms classified into groups ?netzwellenedu
1. Organisms are classified into taxonomic groups based on their evolutionary relationships and phylogeny to show their ancestry and reflect how they are related through common descent.
2. Comparing biochemical traits like DNA, proteins, and amino acid sequences between organisms provides information about their phylogenetic relationships and can be used to construct cladograms.
3. Classification aims to group organisms in a way that matches their evolutionary history, with organisms more closely related sharing more recent common ancestors placed in the same groups. This allows predictions about unknown traits and links evolutionary history.
The document discusses several hypotheses for the origin of life on Earth, including spontaneous abiogenesis from simple organic molecules and the conditions that existed on early Earth. The early Earth had a reducing atmosphere without oxygen that may have allowed organic molecules to form and persist without breaking down. Processes needed for the first cells to form could have included the production of simple organic molecules from inorganic precursors and their assembly into self-replicating polymers within membrane-bound structures.
Speciation occurs through the formation of new species via the splitting of existing species. Species are created through a series of evolutionary processes where populations become isolated from each other due to barriers like geographic separation. Isolated populations then evolve independently, developing characteristics that prevent interbreeding if they come into contact again, resulting in reproductive isolation and the formation of new species.
The document summarizes the five main mechanisms of evolution: 1) mutation and variation, 2) gene flow, 3) non-random mating, 4) genetic drift, and 5) natural selection. It provides examples for each mechanism and explains how they can lead to changes in populations and speciation over time through processes like genetic mixing, founder effects, bottlenecks, and differential survival based on environmental pressures.
1. Fossils provide direct evidence of descent with modification as they show transitions between different species over millions of years.
2. Comparative anatomy, biochemistry, embryology, and cell biology show that organisms share homologous and analogous traits as well as universal genetic and metabolic processes, indicating common ancestry.
3. Vestigial structures provide evidence of evolution as they are remnants of traits that were functional in ancestral species but no longer serve a purpose in modern organisms.
This document discusses natural selection and provides examples of how it can be observed. It begins by asking how natural selection can be observed and then provides definitions of key terms like selection pressures, selective advantages and disadvantages, and fitness. It then gives examples of types of natural selection like stabilizing, directional, and disruptive selection. The document also discusses sources of genetic variation like mutation, recombination, and sex and how these contribute to the raw material upon which natural selection acts. Specific examples are given of antibiotic resistance in bacteria and DDT resistance developing in mosquito populations.
Evolution explains the diversity of life through natural selection. Charles Darwin observed diversity among species on the Galapagos Islands and developed the theory of evolution by natural selection. His theory proposed that species evolve over generations through natural variation, reproduction, and the survival and reproduction of individuals best suited to their environment. Modern evolutionary theory, known as neo-Darwinism, has incorporated genetics and molecular biology and shown that natural variation arises via mutations in reproductive cells.
The document discusses how artificial selection can be used to improve organisms based on the principle of natural selection. It describes selective breeding as the process where humans choose which individuals are allowed to breed based on desired characteristics, while preventing others from breeding. This allows alleles for favored traits to be retained over generations, while eliminating undesirable traits. Selective breeding has been used to create diverse breeds and varieties from ancestral species like wolves and mustard plants. The document also discusses inbreeding as focused breeding between closely related individuals, which can reduce genetic diversity and cause problems if homozygosity becomes complete. Outbreeding using distinct genetic strains is presented as an alternative to create hybrids with superior traits.
3. Populations & Gene Pools
• Concepts
– a population is a localized group of
interbreeding individuals
– gene pool is collection of alleles in the
population
• remember difference between alleles & genes!
– allele frequency is how common is that allele
in the population
• how many A vs. a in whole population
5. Evolution of Populations
• Evolution = change in allele frequencies
in a population
– hypothetical: what conditions would cause
allele frequencies to not change?
– non-evolving population
REMOVE all agents of evolutionary change
1. very large population size (no genetic drift)
2. no migration (no gene flow in or out)
3. no mutation (no genetic change)
4. random mating (no sexual selection)
5. no natural selection (everyone is equally fit)
7. Hardy-Weinberg Equilibrium
• Hypothetical, non-evolving population
– preserves allele frequencies
• Serves as a model (null hypothesis)
– natural populations rarely in H-W equilibrium
– useful model to measure if forces are acting on a
population
• measuring evolutionary change
G.H. Hardy W. Weinberg
mathematician physician
12. Hardy-Weinberg Theorem
• Counting Alleles
– assume 2 alleles = B, b
– frequency of dominant allele (B) = p
– frequency of recessive allele (b) = q
BB Bb bb
13. Hardy-Weinberg Theorem
• Counting Alleles
– assume 2 alleles = B, b
– frequency of dominant allele (B) = p
– frequency of recessive allele (b) = q
• frequencies must add to 1 (100%), so:
BB Bb bb
14. Hardy-Weinberg Theorem
• Counting Alleles
– assume 2 alleles = B, b
– frequency of dominant allele (B) = p
– frequency of recessive allele (b) = q
• frequencies must add to 1 (100%), so:
p+q=1
BB Bb bb
18. Hardy-Weinberg Theorem
• Counting Individuals
– frequency of homozygous dominant: p x p = p2
– frequency of homozygous recessive: q x q = q2
BB Bb bb
19. Hardy-Weinberg Theorem
• Counting Individuals
– frequency of homozygous dominant: p x p = p2
– frequency of homozygous recessive: q x q = q2
– frequency of heterozygotes: (p x q) + (q x p) = 2pq
BB Bb bb
20. Hardy-Weinberg Theorem
• Counting Individuals
– frequency of homozygous dominant: p x p = p2
– frequency of homozygous recessive: q x q = q2
– frequency of heterozygotes: (p x q) + (q x p) = 2pq
• frequencies of all individuals must add to 1 (100%), so:
BB Bb bb
21. Hardy-Weinberg Theorem
• Counting Individuals
– frequency of homozygous dominant: p x p = p2
– frequency of homozygous recessive: q x q = q2
– frequency of heterozygotes: (p x q) + (q x p) = 2pq
• frequencies of all individuals must add to 1 (100%), so:
p2 + 2pq + q2 = 1
BB Bb bb
31. Using Hardy-Weinberg Equation
population:
100 cats q2 (bb): 16/100 = .
84 black, 16 white 16
How many of each q (b): √.16 = 0.4
genotype?
p (B): 1 - 0.4 = 0.6
BB Bb bb
What are the genotype frequencies?
32. Using Hardy-Weinberg Equation
population:
100 cats q2 (bb): 16/100 = .
84 black, 16 white 16
How many of each q (b): √.16 = 0.4
genotype?
p (B): 1 - 0.4 = 0.6
BB Bb bb
Must are the population is in H-W equilibrium!
What assume genotype frequencies?
33. Using Hardy-Weinberg Equation
population:
100 cats q2 (bb): 16/100 = .
84 black, 16 white 16
How many of each q (b): √.16 = 0.4
genotype?
p (B): 1 - 0.4 = 0.6
p2=.36
BB Bb bb
Must are the population is in H-W equilibrium!
What assume genotype frequencies?
34. Using Hardy-Weinberg Equation
population:
100 cats q2 (bb): 16/100 = .
84 black, 16 white 16
How many of each q (b): √.16 = 0.4
genotype?
p (B): 1 - 0.4 = 0.6
p2=.36 2pq=.48
BB Bb bb
Must are the population is in H-W equilibrium!
What assume genotype frequencies?
35. Using Hardy-Weinberg Equation
population:
100 cats q2 (bb): 16/100 = .
84 black, 16 white 16
How many of each q (b): √.16 = 0.4
genotype?
p (B): 1 - 0.4 = 0.6
p2=.36 2pq=.48 q2=.16
BB Bb bb
Must are the population is in H-W equilibrium!
What assume genotype frequencies?
39. Using Hardy-Weinberg Equation
p2=.36 2pq=.48 q2=.16
Assuming BB Bb bb
H-W equilibrium
Null hypothesis
BB Bb bb
Sampled data
40. Using Hardy-Weinberg Equation
p2=.36 2pq=.48 q2=.16
Assuming BB Bb bb
H-W equilibrium
Null hypothesis
p2=.74 2pq=.10 q2=.16
BB Bb bb
Sampled data
How do you
explain the data?
41. Using Hardy-Weinberg Equation
p2=.36 2pq=.48 q2=.16
Assuming BB Bb bb
H-W equilibrium
Null hypothesis
p2=.20
=.74 2pq=.64
2pq=.10 q2=.16
BB Bb bb
Sampled data
How do you
explain the data?
54. Sickle cell Frequency
• High frequency of heterozygotes
– 1 in 5 in Central Africans = HbHs
– unusual for allele with severe
detrimental effects in homozygotes
• 1 in 100 = HsHs
• usually die before reproductive age
Why is the Hs allele maintained at such high
levels in African populations?
55. Sickle cell Frequency
• High frequency of heterozygotes
– 1 in 5 in Central Africans = HbHs
– unusual for allele with severe
detrimental effects in homozygotes
• 1 in 100 = HsHs
• usually die before reproductive age
Why is the Hs allele maintained at such high
levels in African populations?
Suggests some selective advantage of
being heterozygous…
62. Heterozygote Advantage
• In tropical Africa, where malaria is common:
Frequency of sickle cell allele &
distribution of malaria
63. Heterozygote Advantage
• In tropical Africa, where malaria is common:
– homozygous dominant (normal) die of malaria: HbHb
Frequency of sickle cell allele &
distribution of malaria
64. Heterozygote Advantage
• In tropical Africa, where malaria is common:
– homozygous dominant (normal) die of malaria: HbHb
– homozygous recessive die of sickle cell anemia: HsHs
Frequency of sickle cell allele &
distribution of malaria
65. Heterozygote Advantage
• In tropical Africa, where malaria is common:
– homozygous dominant (normal) die of malaria: HbHb
– homozygous recessive die of sickle cell anemia: HsHs
– heterozygote carriers are relatively free of both: HbHs
Frequency of sickle cell allele &
distribution of malaria
66. Heterozygote Advantage
• In tropical Africa, where malaria is common:
– homozygous dominant (normal) die of malaria: HbHb
– homozygous recessive die of sickle cell anemia: HsHs
– heterozygote carriers are relatively free of both: HbHs
• survive more, more common in population
Hypothesis:
In malaria-infected
cells, the O2 level is
lowered enough to
cause sickling which
kills the cell &
destroys the parasite.
Frequency of sickle cell allele &
distribution of malaria