Date __________ Practical class № 16 Student's name __________________________________

Synthetic theory of evolution. Population structure of humanity.

Topic Relevance. The topic "Synthetic theory of evolution and population structure of humanity" is highly
relevant for medical students because it provides a fundamental understanding of how evolutionary processes
shape human genetic diversity, which directly impacts disease susceptibility, pathogen resistance, and
treatment outcomes. Integrating evolutionary biology into medical education equips future physicians with a
unifying framework to interpret complex biological phenomena, such as the evolution of antibiotic resistance
and genetic predispositions to diseases, thereby enhancing their ability to deliver personalized and effective
healthcare. Moreover, knowledge of population structure informs epidemiology and public health strategies
by revealing how genetic variation is distributed across human groups, which is essential for developing
targeted medical interventions and advancing precision medicine. Thus, mastering these concepts is critical
for medical students to understand human health and disease from an evolutionary perspective and to apply
this insight in clinical practice and biomedical research.
Prepare answers to questions.
1. What is evolution?
2. Synthetic Theory of evolution as a modern stage of development of the theory of evolution.
3. Species. Features of the species.
4. Population as the basic unit of evolution. Characteristics of population. Population structure of humanity.
5. Factors of evolution.
6. Macro- and microevolution.
7. Natural selection. Forms of natural selection. Give examples.
8. Biological progression and biological regression. Ways to achieve biological progression (aromorphosis,
idioadaptation and total degeneration).
9. What is meant by the term "population structure" in human populations?
10. How do factors like birth rate, death rate, immigration, and emigration influence population size and
structure?
11. What are the main types of population pyramids, and what do they indicate about a population’s age
distribution?
12. How does genetic variation within and between human populations affect disease susceptibility?
13. Why is understanding population structure important for epidemiology and public health?
14. How can knowledge of human population structure improve personalized medicine and treatment
outcomes?
15. What role do social, economic, and environmental factors play in shaping population health?
16. How does the study of population structure contribute to addressing health disparities among different
human groups?
17. Population structure of India.
I. Tasks for independent extracurricular work of the student as preparation for classroom practical
class (Complete the tasks at home before the practical class).
1. Define the methods of studying the evolutionary process, using additional information.
1. Paleontological methods ________________________________________________________________

[Link] _______________________________________________________________________

3. Morphological ________________________________________________________________________

4. Embryology __________________________________________________________________________

5. Methods of systematics _________________________________________________________________

6. Genetic ______________________________________________________________________________

7. Methods of biochemistry, molecular biology _________________________________________________

8. Ecological ____________________________________________________________________________

9. Simulation of evolution _________________________________________________________________

comparative anatomical (homology and analogy of organs, rudiments, atavisms), histological, population-
morphological methods; identification of fossil transitional forms, restoration of phylogenetic series;
determination of genetic compatibility by hybridization, analysis of cytogenetic features; creating a natural
phylogenetic system, finding out the systematic position of the forms; study of the flora and fauna of modern
continents, island forms, relics; studying embryonic similarities and studying recapitulations; study of the
flora and fauna of modern continents, island forms, relics; the study of biochemical polymorphism,
“molecular hours of evolution”; study of the emergence and development of adaptations; use of computer
programs.

2. Fill in the table using additional information.

N Forms of Characteristics Examples
selection
1. Driving
selection

2. Stabilizing
selection

3. Disruptive
Selection

Manifested in relatively stable conditions and is aimed at the preservation of mutations leading to less
variability of the trait (preservation of average variants and the death of extreme variants). It acts under the
conditions of changes in the habitat and is accompanied by the formation of a new reaction norm of organisms
and eventually leads to a change in one or another species. Preservation of the structure of the corolla of
flowers, pollinated by insects (its shape and size should match the size of insects). It leads to divergence
(divergence) of the previous form and the formation of not one, but two or more different reaction rates.
Change the color of moths in the vicinity of industrial cities in Europe and America. The appearance on the
oceanic islands of insects without wings or with very developed wings.
3. Answer questions using additional information. Mechanisms of microevolution
1. True or false: The three main agents of evolutionary change are: natural selection, genetic drift, and
nonrandom mating. If false, make it a correct statement.
2. Complete the following table, which compares the different mechanisms of microevolution.
Natural selection Genetic drift Gene flow
Description

Example

3. A few persons go boating in the boundary waters of Minnesota. They pulled their own boat to and from
their campsite. Without their knowledge, a small population of aquatic organisms is in/on the boat. As soon as
they get home, they put their boat back in the pond behind the house. There are no other members of this
species in the pond. Which mechanism is this?

4. It is possible for mutation, genetic drift, and gene flow to cause microevolution. However, only by a(n)
____________ event could they lead to that population of organisms becoming better adapted to their
environment.
5. Which of the following best describes relative fitness?
a. The creation of new gene combinations
b. Individuals migrating into and out of an area
c. The ability to produce healthy offspring
d. The change in a population’s gene pool over generations
6. A man wins the National Bodybuilding Association’s Man of the Year award. However, he never has any
children due to a personal choice. What is his relative fitness within the population? Briefly explain your
answer.

7. True or false: Natural selection can alter the variation of phenotypes within a population in three ways. If
false, make it a correct statement.
8. A classic example of microevolution is the shift in a population of moths from light colored to dark colored
during the industrial revolution in England. This shift in moth color was brought about by an accumulation of
soot on the trees and other vegetation around the factories of the cities. This is an example of what type of
selection? This is an example of what type of selection?

9. The plumage of peacocks is an example of _________________________________.

10. List three ways in which human practices are contributing to the creation of antibiotic resistant strains of
bacteria.

11. Briefly explain how a heterozygous individual “protects” the recessive allele from elimination within the
population.
12. List the reasons why natural selection does not create perfect organisms.

True. Chance. Because the heterozygous individual will carry the recessive allele while displaying the
dominant phenotype, which keeps the recessive allele in the gene pool. Natural selection only works on alleles
that are present; evolution is limited by historical constraints; adaptations are usually a trade-off; chance,
natural selection, and the environment interact. Overprescription of antibiotics by physicians, patients
stopping their prescriptions before the prescribed dosage is completed, and use of antibiotics in cattle by
ranchers. The ability to produce healthy offspring. Sexual dimorphism. This is an example of the founder
effect, which is a type of genetic drift. His fitness is zero because he had no children. When individuals move
into or out of a population. A group of birds having a beak that enables them to crack open available seeds
on an island. A forest fire wipes out a national forest and creates a bottleneck effect on certain populations.
The ability of some organisms to leave more offspring than others due to an advantageous trait. Chance events
can create changes in the frequency of alleles in a population. Prairie chickens from other states being added
to the population of prairie chickens already found in Illinois. This can have a profound effect on small
populations. False, they are natural selection, genetic drift, and gene flow. Directional selection.

II. Tasks for students' classroom work. (Tasks are carried out during the practical class).
1. Characteristics of Hominids. Сomplete the table.
Hominids Characteristics
Australopithecus

Homo habilis

Homo erectus

Homo sapiens

2. Specify the term corresponding to the description.

Term Meaning
An ancestor shared by two or more descendant species
The process by which modern organisms have descended from ancient organisms over
time
Difference between traits in individuals of the same species
A trait that improves an organism's ability to survive and reproduce in an environment
Evolutionary mechanism in which individuals that are better suited to their environment
survive and reproduce most successfully
A mechanism of evolution in which allele frequencies of a population change over
generations due to chance
Selective breeding of organisms to promote the appearance of desirable traits in
offspring
Evolution. Common ancestor. Natural selection. Variation. Adaptation. Artificial selection. Genetic drift.
3. Evidence of Evolution:
1 ___________________- The study of extinct Life.
 Fossil records show that species have changed over time. In _______________________, scientists
compare fossils found in different layers of rock to determine the relative age of an organism. In
 ____________________________ dating, scientist look at half-lives of element decay to determine
the exact age of a fossil.
2. ______________________- The study of organisms at an early stage of development provides evidence of
possible common ancestors between two different species.
3. __________________________________ - Organs found on different organisms that have similar
structures but have evolved different uses for these structures.
4. _________________________________ - Organs or structures that have been reduced in size in an
organism that suggests that they adapted to life without their use.

Embryology. Vestigial Structures. Absolute (radioactive). Paleontology. Relative dating. Homologus

structures.
4. ___________________: a trait that increases the chances that an organism will survive and reproduce
________________: was a naturalist who proposed and provided scientific evidence that all species of life have evolved
over time from common ancestors through the process he called natural selection.
________________: the change in population of a species over time.
________________: The evolutionary termination of a species caused by the failure to reproduce and the death of all
remaining members of the species; the natural failure to adapt to environmental change.
____________: evidence of past life preserved in rock.
__________________: the complete body of fossils that shows how species and ecosystems change over time.
Fossilized: the process of becoming a fossil
____________: a fossil found in a narrow time range but widely distributed around the earth; used to date rock layers
________________________: survival of the fittest organisms that are the best adapted to their environment and the
ones that will live long enough to reproduce and pass on their favorable adaptations.
Evolution. Fossil. Extinction. Adaptation. Index fossil. Darwin. Fossil record. Index fossil.
5. Analyze Population Pyramids
Task:
Examine population pyramids of different countries (e.g., Russia, India, Japan, Nigeria). Describe the shape
of each pyramid and explain what it reveals about the population structure, including birth rates, death rates,
and potential healthcare challenges.
Objective:
Understand how demographic data reflect population age structure and predict healthcare needs.
6. Fill out the table.
 During the industrial revolution, pollution was distributed throughout industrial areas
causing the trees to get darker.
1.________________– populations have differences. What is the variation in the peppered
moth population? ________________________________
2. Some variations are __
______________________._____________________________, which phenotype is most
favorable? ________________
3. __ ______________________– More offspring are produced than survive. After the
Industrial Revolution, which phenotype survived at a greater rate? ________
Phenotypes: _______________
Light Dark 4. _____ ________________– those that survive are the ones with the favorable traits and
they pass down those traits.
5. _______________________– the population will change over time as a result of passing
inheritable traits from adaptations. In time, most of the moth population were of the
____________ variation.
This diagram demonstrates the process
of__________________________________________. It demonstrates that changes in the
variation of a population can change the traits of a population. Before the introduction of
the predator, each color occurred in equal numbers in the population. After the introduction
of the predator the _______________variation is most common. This is because they were
able to survive and ________________________at a greater rate.

Another line of evidence cited in the theory of evolution is represented by this diagram. It
is an example of ______________________structures, body parts that are reduced in
size and unused in present day organisms.
Suggests that as body part was no longer needed in environment they were lost
List another example:

The diagram below shows _________________________structures, which may not have

the same use, but do have a common evolutionary origin, and thus structure. These
similarities in body parts suggest a __________________ ancestor.

The diagram below shows _______________________structures, which may have the

same use, but do not have a common evolutionary origin. These similarities in body parts
suggest a similar ____________________ that was needed to survive in their
environments.

A population of insects is sprayed with a new insecticide. Most of the insects are killed but
a few survive. In the next generation, many more of the insects are unaffected by the
insecticide. Which of the following BEST explains these results?
1. The insecticide caused a mutation in the species.
2. A few insects in the first population were immune and passed this trait to their
offspring.
3. The insecticide caused a side effect of immunity that was passed on to the next
generation of insects.
4. The insects learned to fight off the insecticide.
Adaptation. Common. A few insects in the first population were immune and passed this trait to their offspring. Homologous.
Selection. Dark. Light & [Link]. Dark. Vestigial. Natural Selection. Variation. Favorable. Overproduction. Dark.
Population shift/Natural Selection. Dark. Analagous. After the Industrial Revolution.
7. Case Study: Genetic Diversity and Disease Susceptibility
Task:
Choose two human populations with different genetic backgrounds. Research and compare their susceptibility
to a specific genetic disease (e.g., sickle cell anemia, cystic fibrosis). Discuss how population structure and
genetic diversity influence disease prevalence.
Objective:
Link population genetics to clinical implications in medicine.

8. Solve the problems.

Remember the basic formulas:
p2 + 2pq + q2 = 1 and p + q = 1
p = frequency of the dominant allele in the population
q = frequency of the recessive allele in the population
p2 = percentage of homozygous dominant individuals
q2 = percentage of homozygous recessive individuals
2pq = percentage of heterozygous individuals

PROBLEM #1.
You have sampled a population in which you know that the percentage of the homozygous recessive genotype
(aa) is 36%. Using that 36%, calculate the following:
A. The frequency of the "aa" genotype.
B. The frequency of the "a" allele.
C. The frequency of the "A" allele.
D. The frequencies of the genotypes "AA" and "Aa."
E. The frequencies of the two possible phenotypes if "A" is completely dominant over "a."
 PROBLEM #2.
Sickle-cell anemia is an interesting genetic disease. Normal homozygous individials (SS) have normal blood
cells that are easily infected with the malarial parasite. Thus, many of these individuals become very ill from
the parasite and many die. Individuals homozygous for the sickle-cell trait (ss) have red blood cells that readily
collapse when deoxygenated. Although malaria cannot grow in these red blood cells, individuals often die
because of the genetic defect. However, individuals with the heterozygous condition (Ss) have some sickling
of red blood cells, but generally not enough to cause mortality. In addition, malaria cannot survive well within
these "partially defective" red blood cells. Thus, heterozygotes tend to survive better than either of the
homozygous conditions. If 9% of an African population is born with a severe form of sickle-cell anemia (ss),
what percentage of the population will be more resistant to malaria because they are heterozygous (Ss) for the
sickle-cell gene?

Teacher's signature ______________________________

Appendix
What is meant by the term "population structure" in human populations? The term "population
structure" in human populations refers to the presence of subdivisions or subpopulations within the overall
population, where groups of individuals have differing levels of genetic relatedness due to non-random mating,
geographic separation, or other barriers to gene flow. Instead of a single panmictic (randomly mating)
population, the human population is often composed of multiple subgroups (also called demes or local
populations) that may evolve somewhat independently. This structure arises from factors such as physical
barriers (mountains, rivers), migration patterns, cultural practices, genetic drift, natural selection, and
historical events like population bottlenecks or founder effects. Population structure results in variations in
allele and genotype frequencies across groups, causing deviations from Hardy-Weinberg equilibrium and
influencing genetic diversity. Understanding population structure is crucial for studying human genetic
ancestry, evolutionary processes, and for controlling confounding effects in medical genetics research, such
as genome-wide association studies (GWAS).
How does the genetic diversity of human populations influence their susceptibility to diseases.
Genetic diversity within human populations significantly influences their susceptibility to diseases by
affecting how populations respond to pathogens and environmental challenges. Genetically diverse
populations tend to have a lower risk of severe disease outbreaks because variation in immune system genes,
such as those in the Human Leukocyte Antigen (HLA) system, enhances the ability to recognize and combat
a wide range of pathogens. Conversely, genetically homogeneous populations are more vulnerable to
infections, as pathogens can spread more easily among genetically similar hosts-a phenomenon supported by
the "monoculture effect" observed in agriculture and natural populations. For example, the sickle-cell allele
provides resistance to malaria in heterozygous individuals, illustrating how genetic variation can confer
selective advantages against specific diseases. Additionally, mutations like the CCR5-Δ32 allele offer
resistance to HIV infection in certain populations, highlighting how genetic differences shape disease
susceptibility. Population genetics also reveals that allele frequencies related to disease risk vary due to
evolutionary forces such as natural selection, genetic drift, and gene flow, influencing the distribution of
inherited disorders and responses to treatments. Understanding this genetic diversity is crucial for developing
effective public health strategies, personalized medicine, and disease control measures tailored to specific
populations.
How do factors like birth rate, death rate, immigration, and emigration influence population size and
structure? Factors such as birth rate, death rate, immigration, and emigration directly influence population
size and structure by determining how the number and composition of individuals in a population change over
time. A high birth rate increases population size by adding new individuals, while a high death rate reduces it
by removing individuals. Immigration (inflow of individuals) increases population size and can alter the age
and genetic composition, whereas emigration (outflow) decreases population size and may disproportionately
affect certain age groups or cohorts. Together, these factors shape the population’s age structure, which can
be visualized by population pyramids that reflect the combined effects of births, deaths, and migration on
different age groups. For example, net migration can create bulges or dips in certain age cohorts, while changes
in fertility and mortality rates influence the overall shape of the population pyramid. Understanding these
dynamics is essential for predicting population growth or decline and for planning healthcare and social
services accordingly.
Population structure of India.
As of January 1, 2025, India's population is estimated to be 1,461,898,454. India is the most populous country
in the world, with one-sixth of the world's population. India's population increased by 0.89% from 2024 to
reach 1,454,606,724 in 2025. India's population is predicted to reach 1.7 billion by 2050.
Key figures for India's population in 2024 include:
 A daily increase of 18,768,386 people as the number of births exceeded the number of deaths.
 A population decline of 591,926 due to external migration.
 A sex ratio of 1.068 (1,068 males per 1,000 females), which is higher than the global sex ratio.
India has a population density of 444.7 people per square kilometer as of May 2025. The median age in India
is 28.8 years as of 2025. Approximately 37.1% of India's population, or 542,742,539 people, live in urban
areas.
India's population structure is demographically heterogeneous, with differences between states and between
rural, less educated populations and urban, more educated populations. The population pyramid for India is
expanding, which is common in developing countries with high birth and death rates.

Genetic Diversity and Disease Susceptibility

Here is a case study comparing two human populations with different genetic backgrounds and their
susceptibility to a specific genetic disease, illustrating how population structure and genetic diversity influence
disease prevalence:
Case Study: Genetic Diversity and Disease Susceptibility in Sub-Saharan Africans and Ashkenazi Jews
Populations chosen:
 Sub-Saharan Africans
 Ashkenazi Jews
Disease focus:
 Sickle-cell anemia (Sub-Saharan Africans)
 Tay-Sachs disease (Ashkenazi Jews)
Background and Genetic Diversity:
Sub-Saharan African populations exhibit high genetic diversity due to their long evolutionary history and large
effective population size. This diversity includes the presence of the sickle-cell allele (HbS), which is
maintained in the population by balancing selection because heterozygous carriers (one normal and one sickle
allele) have increased resistance to malaria, a historically endemic and deadly infectious disease in the region.
However, homozygous individuals (two sickle alleles) develop sickle-cell disease, a severe hereditary blood
disorder. This example illustrates how environmental selective pressures (malaria) shape allele frequencies
and disease prevalence in a population.
In contrast, the Ashkenazi Jewish population experienced a strong population bottleneck and subsequent
genetic drift, which reduced genetic diversity and increased the frequency of certain recessive disease alleles,
including those causing Tay-Sachs disease. Tay-Sachs is a fatal neurodegenerative disorder caused by
mutations in the HEXA gene. The founder effect and limited gene flow in this relatively isolated population
led to a higher prevalence of Tay-Sachs compared to the general population.
Population Structure and Disease Prevalence:
 In Sub-Saharan Africa, the population structure shaped by natural selection and high genetic diversity
results in a balanced polymorphism where the sickle-cell allele persists at significant frequencies due
 to its protective effect against malaria. This creates a trade-off between resistance to infection and risk
of genetic disease.
 In Ashkenazi Jews, the population structure characterized by historical bottlenecks and endogamy
increased the frequency of rare deleterious alleles, leading to a higher incidence of recessive genetic
disorders like Tay-Sachs.
Clinical Implications:
Understanding these population-specific genetic backgrounds is crucial for medical practice:
 In malaria-endemic regions, screening for sickle-cell trait informs genetic counseling and disease
management.
 In Ashkenazi Jewish communities, carrier screening programs for Tay-Sachs and other recessive
diseases have been implemented to reduce disease incidence through informed reproductive choices.
This case study highlights how population genetics, shaped by evolutionary history, demographic events, and
environmental pressures, directly influences disease susceptibility and prevalence. It underscores the
importance of incorporating knowledge of population structure and genetic diversity into personalized
medicine, public health strategies, and disease prevention programs.
This example links population genetics to clinical outcomes, demonstrating how genetic diversity and
population history affect inherited disease risks and informing medical approaches tailored to specific
populations.
What role do social, economic, and environmental factors play in shaping population health?
Social, economic, and environmental factors play a crucial role in shaping population health by influencing
the conditions in which people are born, grow, live, work, and age. These factors, collectively known as social
determinants of health (SDOH), include economic stability, education access and quality, healthcare access,
neighborhood and built environment, and social and community context. For example, economic stability
affects individuals' ability to afford nutritious food, safe housing, and healthcare, while education influences
health literacy and employment opportunities. Environmental factors such as clean air and water, safe
neighborhoods, and access to recreational spaces directly impact physical and mental health. Social
determinants contribute significantly to health disparities and inequities, as populations with limited access to
resources often experience higher rates of chronic diseases, lower life expectancy, and poorer overall health
outcomes. Addressing these factors requires coordinated efforts across sectors like healthcare, education,
housing, and transportation to improve living conditions and promote health equity. Ultimately, social,
economic, and environmental factors shape not only individual health but also the health profile of entire
populations.
How can knowledge of human population structure improve personalized medicine and treatment
outcomes?
Knowledge of human population structure improves personalized medicine and treatment outcomes by
providing crucial insights into genetic variation patterns across different groups, which directly affect disease
susceptibility, drug metabolism, and treatment response. Understanding population structure allows clinicians
to interpret genetic profiles in the context of ancestry and subpopulation-specific allele frequencies, enabling
more accurate prediction of disease risk and identification of genetic variants that influence drug efficacy and
adverse reactions. For example, pharmacogenomic differences among populations can guide the selection and
dosing of medications to minimize side effects and maximize therapeutic benefit. Moreover, incorporating
population-level genetic data enhances the development of targeted therapies, such as cancer treatments
tailored to tumor mutations prevalent in specific groups. This approach moves beyond the traditional “one-
size-fits-all” model, allowing for prevention strategies and interventions that are customized not only to
individuals but also consider their genetic background shaped by population history. Ultimately, integrating
knowledge of human population structure into personalized medicine leads to more precise diagnostics,
optimized treatment plans, reduced healthcare costs, and improved clinical outcomes.