Module I: Genetics, Mutations, and Genetic disorders

Mendel’s principles (Mendelian inheritance OR inheritance biology)

Mendel's principles refer to the foundational concepts of genetics discovered by
Gregor Mendel, often regarded as the father of modern genetics. Mendel
conducted ground breaking experiments with pea plants in the mid-19th
century, which led to the establishment of three key principles: the law of
Dominance, the law of Segregation, and the law of Independent
Assortment.

Mendel studied seven traits that are true bred. He studied the seven traits are the
flower colour, flower position, seed colour, seed shape, pod colour, pod shape
and height.

Monohybrid cross

Monohybird cross is a breeding experiment that involves mating two individual

with different genetic allels for a single trait

Let us use the example of flower colour in pea plants, where purple is dominant
(P) and white is recessive (p).

P (Purple) P (White)
P PP Pp
p pP pp

Law of Dominance (Monohybrid cross)

The first principle, the law of dominance, states that in a heterozygote, one
allele will be dominant over the other, and only its phenotype will be expressed
in the organism. The recessive allele will be masked in the phenotype but can
still be passed on to future generations.

Law of segregation (Dihybrid cross)

The second principle, the law of segregation, states that during the formation of
gametes (sex cells), the two alleles (variants of a gene) for a heritable trait
segregate from each other so that each gamete carries only one allele for each
trait. This segregation occurs randomly, ensuring genetic diversity in offspring.
Dihybrid cross

Phenotypic ratio: 9:3:3:1

Law of independent Assortment (Trihybrid cross)

The third principle, the law of independent assortment, during the time of gamet
formation, allelss for different genes segeregte independently of each other . in
other words the inheritance of one trait does not affect the inheritance another
trait / traits are passed down randomly and don’t depend on each other
2) Modern concept of gene and gene action

The idea of genes and how they work has come a long way since scientists first
started studying them. Genes are like tiny instruction manuals inside our cells.
They tell our bodies how to grow, what color our eyes will be, and even how
our immune system fights off germs. These instruction manuals are written in a
special code called DNA, which is found in every cell of our bodies.

It's like a recipe – genes provide the ingredients, and gene action is the cooking
process that turns those ingredients into something useful, like a protein.
Proteins are like workers in our cells, doing all sorts of jobs to keep our bodies
running smoothly.

But genes don't work alone. They interact with each other and with the
environment around them
Gene action is also influenced by things like our environment and lifestyle. For
example, if someone has a gene for tallness but doesn't get enough nutrients
during childhood, they might not grow as tall as they could have. So, it's not just
about the genes we inherit from our parents – it's also about how those genes
interact with the world around us.

In conclusion, genes and gene action are like the building blocks of life. They
give us our traits and help us adapt to our environment.
3) gene mutations.

Gene mutations are changes in the DNA sequence that can alter the instructions
for building and functioning of proteins. These mutations can have various
effects, ranging from no noticeable impact to severe genetic disorders. There are
several types of gene mutations

*Point Mutations:

Point mutations involve changes in a single nucleotide base pair of the DNA
sequence. There are three main types of point mutations:
- Substitution: One nucleotide is replaced by another, leading to a change in the
amino acid sequence of the resulting protein. Depending on the location and
nature of the substitution, it can have varying effects on protein function.
- Insertion: An extra nucleotide is inserted into the DNA sequence, causing a
shift in the reading frame during protein synthesis. This can lead to significant
alterations in the resulting protein's structure and function.
- Deletion: One nucleotide is removed from the DNA sequence, resulting in a
frameshift mutation similar to insertion. This can disrupt the normal reading
frame, leading to a non-functional or altered protein.

* Frameshift Mutations:

Frameshift mutations occur when nucleotides are inserted or deleted from the
DNA sequence in a number not divisible by three, causing a shift in the reading
frame during protein synthesis. This alters the entire amino acid sequence
downstream of the mutation, often resulting in non-functional or truncated
proteins.

*Silent Mutations:

Silent mutations are point mutations that occur in protein-coding regions of the
DNA but do not result in any change in the amino acid sequence of the encoded
protein

*Nonsense Mutations:

Nonsense mutations are point mutations that introduce a premature stop codon
into the mRNA sequence, leading to early termination of protein synthesis. This
results in the production of a truncated, non-functional protein.
*Missense Mutations:

Missense mutations are point mutations that result in the substitution of one
amino acid for another in the encoded protein. Depending on the nature and
location of the substitution, missense mutations can have varying effects on
protein structure and function, ranging from mild to severe.

* Chromosomal Mutations:

Chromosomal mutations involve changes in the structure or number of

chromosomes. Example s include:
- Deletions: Loss of a segment of a chromosome.
- Duplications: Duplication of a segment of a chromosome.
- Inversions: happens when a section of dna breaks away and reattaches in the
reverse order
- Translocations: Movement of a segment of one chromosome to another
chromosome.

Somatic gene mutation*

refers to a genetic alteration that occurs in the DNA of somatic cells, which are
any cells in the body other than reproductive cells. These mutations are acquired
after birth and are not passed on to offspring. They may arise due to various
factors such as environmental exposures, errors in DNA replication, or the
effects of aging, and can contribute to the development of diseases such as
cancer.

spontaneous gene mutation*

is a genetic alteration that arises naturally, without any external cause or

intervention. These mutations can occur due to errors in DNA replication,
exposure to environmental factors such as radiation or chemicals, or as a result
of normal cellular processes. They are not induced by external factors
intentionally and can happen randomly during the course of cell division or
DNA repair.

induced gene mutation*

is a genetic alteration that is deliberately caused by external factors, such as

exposure to radiation, chemicals, or certain types of treatments like
chemotherapy. Unlike spontaneous mutations, induced mutations are
intentionally induced by humans for various purposes, such as scientific
research or medical treatments.
4) GENE MUTATION DISORDER
a gene mutation disorder is a health condition caused by changes in our DNA
that can affect how our bodies develop and function.
* Albinism is a genetic condition characterized by a lack of melanin production
in the body, resulting in little or no pigment in the skin, hair, and eyes. This can
lead to very pale skin, white or light-colored hair, and light-colored eyes. People
with albinism often have vision problems and are more sensitive to sunlight due
to the lack of melanin, which normally helps protect the skin and eyes from UV

damage

* Phenylketonuria (PKU) is a genetic disorder that causes the body to be unable

to process the amino acid phenylalanine properly. This can lead to intellectual
disabilities, behavioral problems, and other serious health issues if not managed
through a low-phenylalanine diet. It's usually diagnosed through newborn
screening tests.

* Alkaptonuria is another rare genetic disorder where the body can't properly
break down certain amino acids, leading to a buildup of homogentisic acid. This
can cause urine to turn dark when exposed to air, joint problems due to a
buildup of the acid in connective tissues, and potentially heart and kidney
issues. It's also diagnosed through urine tests and managed through dietary
changes
* Galactosemia is a genetic disorder where the body can't properly metabolize
galactose, a sugar found in milk and dairy products. This can lead to a buildup
of galactose and its metabolites, causing damage to various organs and tissues.
Symptoms can include jaundice, liver damage, cataracts, and developmental
delays. Management involves avoiding lactose-containing foods and

maintaining a galactose-free diet.

* Brachydactyly is a genetic condition characterized by shortened fingers or

toes. It can occur as an isolated trait or as part of a syndrome. There are
different types of brachydactyly, each with its own specific features and
inheritance patterns. While it can sometimes be associated with other health
issues, in many cases it's simply a variation in normal human anatomy.
AUTOSOMAL ANOMALITIES

* Down syndrome / TRISOMY 21. is a genetic disorder caused by the presence

of an extra copy of chromosome 21. Instead of the usual two copies of
chromosome 21, they have three copies, resulting in a total of 47 chromosomes
instead of the usual 46, typically leads to physical and developmental
challenges, including intellectual disability and distinctive facial features.
However, the range and severity of symptoms can vary

* Edward syndrome, Trisomy 18, occurs when there are three copies of
chromosome 18 instead of the usual two. This extra genetic material can lead to
a wide range of physical and developmental abnormalities, including heart
defects, clenched hands with overlapping fingers, and a small head
(microcephaly). Individuals with trisomy 18 often experience significant
intellectual disability and have a shortened lifespan, with many affected babies
born prematurely and facing life-threatening health complications.
*Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus)
syndrome, is a chromosomal condition that results when a piece of
chromosome 5 is missing. Infants with this condition often have a high-
pitched cry that sounds like that of a cat. The disorder is characterized by
intellectual disability and delayed development, small head size
(microcephaly), low birth weight, and weak muscle tone (hypotonia) in
infancy. Affected individuals also have distinctive facial features,
including widely set eyes (hypertelorism), low-set ears, a small jaw, and a
rounded face. Some children with cri-du-chat syndrome are born with a
heart defect.

SEX CHIROMOSOMAL ANOMALIES

*Klinefelter syndrome is a genetic condition that occurs in males when

they have an extra X chromosome (XXY) instead of the typical XY. It
can lead to various physical and developmental differences, such as
infertility, reduced testosterone levels, and sometimes learning or
behavioral challenges. Treatment often involves hormone therapy to
address symptoms like low testosterone.

* Turner syndrome, also known as XO females. is a genetic condition that

affects females, this individuals typically have only one X chromosome
instead of the usual two This chromosomal abnormality leads to a range
of physical and developmental features
They are typically shorter ,webbed neck, low set of ear, often have heart
and ovarian problem, learning difficulties andhearing loss may occur
CHAPETR 2 SEXUAL BEHAVIOUR, HUNGER, THIRST

SEXUAL DEVELOPMENT - Sexual development refers to the

biological, psychological, and social changes that occur as individuals
grow from infancy through adolescence and into adulthood, shaping their
sexual identity, orientation, and behavior. It consist physical, emotional,
and cognitive transformations .

Biological Changes: Sexual development involves the physical changes

that occur in the body, such as the development of primary and secondary
sexual characteristics. Primary sexual characteristics include the
reproductive organs (e.g., ovaries, testes, uterus), while secondary sexual
characteristics include features like breast development, facial hair
growth, and voice changes.

Hormonal Changes: Hormones play a crucial role in sexual development,

influencing the timing and progression of puberty, which is the period
when sexual maturity is reached. Hormones like testosterone and estrogen
drive the development of sexual characteristics and regulate sexual
function.

Psychological and Emotional Changes: Sexual development also involves

psychological and emotional changes as individuals begin to explore their
sexual identity, desires, and relationships. This includes developing a
sense of self-awareness, understanding one's sexual orientation, and
forming intimate connections with others.
Social Influences: Sociocultural factors, such as family values, cultural
norms, and peer influences, play a significant role in shaping sexual
development

2) SEXUAL ORIENTATION - Sexual orientation refers to a person's

pattern of romantic or sexual attraction to others. It's about who someone
is emotionally, romantically, or sexually drawn to. individuals may
identify as heterosexual, homosexual, bisexual, pansexual, asexual,

Heterosexual: Individuals who are primarily attracted to people of the

opposite gender. For example, a man attracted to women or a woman
attracted to men.

Homosexual: Individuals who are primarily attracted to people of the

same gender. For instance, a man attracted to other men or a woman
attracted to other women.

Bisexual: Individuals who are attracted to people of both their own

gender and other genders. They may experience attraction to individuals
regardless of gender identity.

Pansexual: Individuals who are attracted to people regardless of their

gender identity or biological sex. They are attracted to individuals based
on emotional or personality traits rather than gender.

Asexual: Individuals who do not experience sexual attraction to others.

This does not mean they cannot experience romantic or emotional
attraction, but their interest in sexual activity may be minimal or absent.

3) Write notes on external cues of sexual behaviour.

External cues of sexual behavior are things in the environment that affect
how people feel and act sexually or stimuli that influence an individual's
sexual arousal, desire, and behavior. These can include seeing attractive
people, smelling certain scents, hearing romantic sounds or music, being
in a comfortable setting, and cultural influences. These cues can influence
how individuals feel and respond to sexual situations.

4) PHYSIOLOGICAL BASIS OF WATER

Thirst
the feeling that you have when you want or need a drink.
The areas of the brain that contribute to the sense of thirst are mainly
located in the midbrain and the hindbrain. Specifically, the hypothalamus
appears to play a key role in the regulation of thirst.

Types of thirst

Thirst can be categorized into two types: osmotic thirst and hypovolemic
thirst.

1. Osmotic thirst: This type of thirst is triggered by an increase in the

concentration of solutes, such as salt, in the body fluids. When the
concentration of solutes rises above a certain threshold, it draws water out
of cells via osmosis, leading to dehydration. Osmotic receptors in the
hypothalamus detect this increase in solute concentration and stimulate
thirst to encourage water intake and restore the body's fluid balance.

2. Hypovolemic thirst: This type of thirst is prompted by a decrease in the

volume of blood plasma, due to factors such as blood loss, sweating, or
inadequate fluid intake. Sensors in the heart and blood vessels detect the
decrease in blood volume and trigger thirst to encourage the consumption
of fluids, thereby restoring blood volume and maintaining adequate blood
pressure.

Or
( Objective )of thirst is to maintain fluid balance in the body.

Water regulation : Knowing how much water is in our body is important

for making us thirsty and keeping our water levels right. The things that
help with this are split into two groups: things outside our brain
(Peripheral factors) and things inside our brain (Central factors).

PERIPHERAL FACTORS These factors involve processes occurring

outside of the brain and spinal cord. They include:

- Thirst sensation: Sensors in the mouth, throat, and stomach detect

changes in water concentration or dryness, signaling the need for fluid
intake by making us feel thirsty.
- Baroreceptors: These are sensors located in blood vessels that detect
changes in blood pressure and volume. When blood pressure drops or
blood volume decreases, baroreceptors trigger thirst and hormone release
to restore fluid balance.

CENTRAL FACTORS IN WATER REGULATION

: These regions are located mainly in midbrain and hindbrain.
Hypothalamus appears to play a key
role in the regulation of thirst.
Following areas in the brain detects loss of blood volume and increase
in solute concentrations
 Area postrema
 Nucleus tractus solitarii (SN)
 Subfornical organ
 Lateral parabrachial nucleus
 Median preoptic nucleus
 Organum vasculosum of the lamina terminalis

1. Area postrema: This brain area near the brainstem detects toxins in the
bloodstream and can trigger vomiting. It also senses changes in blood
composition, such as salt levels, and signals the brain to regulate fluid
balance accordingly.
2. Nucleus tractus solitarii (NTS): Located in the brainstem, NTS receives
sensory input from various organs and systems, including the
cardiovascular and gastrointestinal systems. It integrates these signals
related to blood pressure, blood volume, and fluid balance to help
regulate hydration levels.

3. Subfornical organ: This brain structure near the third ventricle lacks a
blood-brain barrier, allowing it to directly sense changes in blood
composition, particularly osmolality and sodium levels. It plays a role in
stimulating thirst and regulating hormone release related to fluid balance.

4. Lateral parabrachial nucleus :Situated in the brainstem, this nucleus

receives input from different brain regions involved in fluid balance
regulation. It integrates these signals and coordinates responses related to
thirst and fluid balance to maintain homeostasis.

5. Median preoptic nucleus: Found in the preoptic area of the

hypothalamus, this nucleus regulates body temperature and fluid balance.
It receives input from osmoreceptors and other brain regions involved in
water regulation, helping coordinate responses such as thirst and hormone
release.

6. Organum vasculosum of the lamina terminalis (OVLT): Located near

the third ventricle, OVLT detects changes in blood composition,
including osmolality and temperature. It sends signals to the
hypothalamus to initiate responses such as thirst and hormone

5) HYPOTHALAMUS , AMYGDALA & HUNGER

NOTE!
 STRESS CHAPTER 3

1) Describe stress and stress response.

Stress is the body's reaction to challenges, causing changes like faster

heart rate and breathing. This response helps us deal with tough
situations.
When we encounter a stressful situation, our bodies kick into gear to help
us cope. This is known as the stress response, or "fight-or-flight"
response. It involves changes like increased heart rate, faster breathing,
and heightened alertness, all aimed at giving us the energy and focus
needed to deal with the challenge. Once the stressor is gone, our bodies
usually return to normal. However, if stress persists for a long time, it can
take a toll on our health, leading to problems like anxiety, high blood
pressure, and weakened immune function
Stress can cause problems like headaches, stomachaches, feeling
anxious or sad, and trouble sleeping or concentrating. It can also
affect how we behave and get along with others, and it might make
us more likely to have health issues like heart problems or diabetes.

2) Describe briefly the hormonal indicators of stress.

Hormonal indicators of stress involve the release of adrenaline and
cortisol. Adrenaline boosts immediate physical responses like, when
we're stressed or excited. It makes our heart beat faster, helps us breathe
better, boosts our energy, and makes us more alert. , while cortisol helps
sustain the body's stress response over time. It regulates metabolism,
immune response, and blood pressure. When we're stressed, cortisol
levels rise to give us energy, but too much stress can harm our health.
AND release of Endorphins are natural chemicals in our body that make
us feel good and help reduce pain, especially when we exercise or
experience stress. They act like natural painkillers and boost our mood.
Endorphins work by binding to opioid receptors in the brain, similar to
the way opioid drugs like morphine and heroin do, but with milder
effects. Activities such as exercise, laughter, socializing, and certain
foods can trigger the release of endorphins, contributing to a sense of
well-being and relaxation.

3) Describe briefly the physiological indicators of stress.

Physiological indicators of stress are changes in the body's physical

functions in response to stressors

*Increased heart rate and blood pressure

*Rapid breathing: Stress can lead to faster breathing to increase oxygen

intake

*Muscle tension: Stress can cause muscles to tense up, soreness, or

tension headaches.

*Sweating: Stress-induced sweating is a natural response to help regulate

body temperature

*Digestive issues: Stress can affect digestion, leading to symptoms such

as stomachaches, nausea, diarrhea, or constipation.

*Changes in sleep patterns: Stress can disrupt sleep, leading to difficulty

falling asleep, staying asleep etc
4) STRESS AND DISEASE

When we experience stress, our bodies respond by releasing hormones

like cortisol and adrenaline. While this response is natural and can be
helpful in certain situations,
chronic stress can lead to an imbalance in these hormones, which can
negatively affect our physical and mental health over time.

Here are some common health issues that can arise due to chronic stress:

1. *Anxiety Disorders*: Persistent stress can contribute to the

development of anxiety disorders such as generalized anxiety disorder,
panic disorder, and social anxiety disorder.

2. *Depression*: Chronic stress is a significant risk factor for depression.

It can affect neurotransmitters in the brain, such as serotonin and
dopamine, which play a role in mood regulation.

3. *High Blood Pressure*: Stress activates the body's "fight or flight"

response, causing the heart to beat faster and blood vessels to constrict.
Over time, this can lead to elevated blood pressure, increasing the risk of
heart disease and stroke.

4. *Heart Disease*: Prolonged stress can contribute to the development of

heart disease by increasing inflammation, promoting the buildup of
plaque in the arteries, and affecting heart rhythm.

5. *Digestive Problems*: Stress can affect digestion and contribute to

issues like irritable bowel syndrome (IBS), acid reflux, and stomach
ulcers. It can also worsen symptoms of existing digestive conditions.

6. *Weakened Immune System*: Chronic stress suppresses the immune

system, making individuals more susceptible to infections and illnesses.

7. *Insomnia*: Stress can disrupt sleep patterns, leading to difficulty

falling asleep or staying asleep. Lack of quality sleep can further
exacerbate stress levels and contribute to other health problems.
SLEEP

1) AROUSAL,SLEEP,CIRCADIAN RHYTHM

Arousal typically refers to a state of heightened physiological

and psychological activation. It involves an increase in
alertness, responsiveness, and readiness to react to stimuli,
whether they are internal or external.

EXAMPLE ) you're watching your favorite suspenseful

movie. As the tension builds, you start to feel your heart
beating faster, your palms getting sweaty, and your breathing
becoming quicker. That heightened state of physical and
emotional alertness you experience while watching the
movie is arousal in action.
SLEEP ( ALPHA NOTES)
CRICADIAN RHYTHM *
Another term often used to refer to the biological clock is
the "circadian clock" or "circadian rhythm."
refers to an internal timer that regulates various physiological
processes in living organisms, including humans. These
processes typically follow a 24-hour cycle, known as
circadian rhythms. Biological clocks help coordinate essential
functions such as sleep-wake cycles, hormone secretion, body
temperature regulation, and metabolism.

In humans, the master biological clock is located in the

suprachiasmatic nucleus (SCN) of the hypothalamus in the
brain. This clock is synchronized with external cues, primarily
light and darkness, through the eyes' retinas. Light exposure
signals the brain to adjust the body's internal clock, helping to
maintain alignment with the external environment.

Disruptions to these clocks, such as those caused by shift

work, jet lag, or certain medical conditions, can lead to
disturbances in sleep patterns, mood, cognition, and overall
physiological functioning.

2) EEG
NOTE

3)CONCEPTION OF SLEEP - NOT