GENETICS

➔ are the sequence of DNA, encoding

a specific protein.
LESSON 1: INTRODUCTION TO ➔ located inside the chromosomes.
GENETICS
Chromosome
➔ A complex network of proteins and
Genetics
DNA where all the genes are located
➔ is a field of Science that studies
is known as a chromosome.
DNA, genes, chromosomes,
➔ Bearer of hereditary traits because
genome, genetic variations,
you can find the genes there.
mutations and inheritance of traits.
➔ It can be found inside the nucleus in
➔ The term “genetics” was derived
eukaryotes.
from the Greek word “genetikos”
➔ It can be found inside the cytoplasm
and “genesis”. Genetikos:
in prokaryotes because they do not
generative and genesis: origin.
have a nucleus.
Gregor John Mendel
Genome
➔ Father of Genetics
➔ A complete haploid set of DNA of an
➔ was the pioneer in the field of
organism is a Genome.
genetics, who conceptualized and
❖ A total of 46 chromosomes in 23
eventually popularized it during the
pairs are present in our cells.
late 18th century.
Among 23 pairs, 22 are known as
➔ He formulate the 3 laws of heredity
autosomes while a pair of XX or XY
(the mendelian inheritance)
chromosomes are known as
sex-chromosomes. XX and XY are
DNA (Deoxyribonucleic acid)
present in females and males,
➔ Found in the genes
respectively
➔ is a polynucleotide chain made up of
sugar, phosphate and nitrogenous
Genotype
bases.
➔ Gene composition or the genetic
makeup of living organisms.
Trait
➔ A heritable unit of DNA that
➔ inherited from parents to their
produces a specific phenotype is a
offspring. Some traits are physical
genotype.
while some are biological.
Example: If you are type A. Your genetic
makeup are, homozygous A or
Gene
heterozygous A
➔ A functional part of DNA is a gene.
- The whole DNA of a cell.
➔ a molecular component which is
very much responsible for the
Phenotype
transfer of heredity or transfer of
➔ A visible or observable trait,
characteristics from parents to
governed by genotypes is known as
offspring.
a phenotype.
➔ Determinant of hereditary traits
 GENETICS
➔ A set of the observable chromosome and inside a cell
characteristics of an organism. nucleus.
Homozygous
➔ it carries two copies of the same History
recessive allele 1. Friedrich Miescher (1869) —
Heterozygous Discovered nucleic acid
➔ an organism has two different alleles 2. Waldeyer (1888) — Identified the
of a gene. chromosomes present in the cell
3. Richard Altmann (1889) — Purified DNA
Mutation from the protein.
➔ Any structural change in DNA is 4. Morgan T (1910) — Explained that
known as a mutation. genes are located on the chromosomes.
➔ as any alteration in the sequence of 5. Watson and Crick (1953)— Given the
a gene that possibly alters the structure of DNA
phenotype. 6. William Bateson- The one who coined
the term Genetics.
Genetic engineering
➔ A field of genetics in which genetic Abnormalities in Chromosomes
manipulation is conducted for Aneuploidy
various purposes is known as ➔ A change in the number of
genetic engineering. chromosomes also causes mutation.
Down syndrome
Allele ➔ additional chromosome 21 is present
➔ An alternative form of a gene is an along with the pair. The condition is
allele. known as trisomy
Turner syndrome
Trisomy ➔ which only a single X chromosome
➔ The presence of three similar types is present in a female. The condition
of chromosomes instead of a pair. is called monosomy.
Klinefelter syndrome
Gene mapping ➔ One extra X chromosome in males
➔ Finding gene location in a genome (XXY).
or on a chromosome is known as Philadelphia syndrome
gene mapping. ➔ Translocation between chromosome
9 and 22
Alteration ( in genetics it is called Neuroblastoma
MUTATION ) ➔ Chromosome 1p deletion
➔ Meaning, changes, variation, Structural chromosomal alteration
mutation. ➔ structural changes cause varying
degrees of abnormalities, some
DNA Packaging examples are chromosomal
➔ is a process involving DNA and deletions, duplications,
protein, for arranging DNA on a translocations and inversions.
 GENETICS
Tools used in genetics/Techniques: Gene Editing
DNA sequencing ➔ a technique to manipulate an
➔ is powerful enough to find new organism’s genome or gene or DNA
variations or mutations. It is a sequence which might be insertion
process of determining or identifying or deletion.
the order of nucleotides present in a
DNA sequence. Gene Therapy
➔ is the process of reading the ➔ is a method used to treat genetic
sequence of DNA using a disorders by introducing or removing
computational tool. The denatured a gene using gene transfer vectors.
sequence can be read using the
fluorescence-labeled dNTPs when FISH (Fluorescent In Situ Hybridization):
annealed. It detects new mutations. ➔ technique is used to map or identify
specific DNA sequences on a
Polymerase chain reaction (PCR) chromosome. The fluorescently
➔ is a process in which we can amplify labeled DNA probes are directly
millions of copies of a DNA segment used to hybridize on the specific
of our interest in vitro (in a test tube). location on a chromosome.
Mutation
DNA Microarray
DNA cloning ➔ instead of cultured chromosomes
➔ is a traditional method for the only genomic DNA or mRNA is
synthesis of DNA. Using a cloning required (depending upon the array).
vector our sequence of interest can
be synthesized by using a bacterial ****c in cDNA stands for Complementary
artificial chromosome. while the m in mRNA stands for
messenger****
Karyotyping
➔ The process of arranging, pairing, Applications of Genetics:
and organizing chromosomes to find ● Characterization and diagnosis of
chromosomal variations. Most genetic disease
common technique in Cytogenetics. ● Identification of pathogenic
mutations
Real-Time PCR Polymerase chain ● Preserving biodiversity
reaction ● Identification and characterization of
➔ A technique used to quantify the microbes
nucleic acid (DNA/RNA) present in a ● Studying inheritance patterns
sample, during the PCR reaction is ● Creating advanced plant species
known as a real-time PCR ● Creating genetically modified
organisms
DNA Markers ● DNA fingerprinting
➔ To study various regions in the ● Antibiotic resistance study and drug
genome discovery
● Genetic/DNA medicines
 GENETICS
● Genetic engineering ➔ to study the structure and numbers
● Crop improvement of chromosomes and thereby find
● Animal and Plant Breeding program abnormalities.
● Infectious disease diagnosis ➔ The study of chromosomes allows
● Screening, prognosis, and diagnosis us to identify disorders like down
of cancer syndrome, Patau syndrome,
Klinefelter syndrome and other
BRANCHES OF GENETICS abnormalities associated with
chromosomes.

Metagenomics
➔ studies the entire pool of microbes
or microbial diversity present in any
specific sample which was
previously not possible using
traditional microbiology techniques.

Population Genetics
➔ studies the gene pool or biological
composition of the entire single
Physiological genetics population, their effect on other
➔ the study of the mechanism of gene populations, individuals and related
action, including gene duplication. It consequences.
is, as the name implies, a hybrid.
Conservation Genetics
Molecular Genetics ➔ is a complex field that includes
➔ It studies the molecular structure of biology, conservation, population,
DNA or gene viz, nucleotides, and genetic studies for preventing
nitrogenous bases, sequence the extinction of any species on
alterations and sequence earth.
abnormalities, etc.
Quantitative Genetics
Biochemical genetics ➔ study of qualitative traits like height,
➔ deals with the chemical structure of weight, etc, and genetic basis. Such
the genes and with the mechanisms traits are polygenic in nature and
by which the genes control and occur by many genes and their
regulate the structure and synthesis interaction, therefore techniques like
of proteins. whole genome microarrays are
➔ It studies the relationship of genes used.
and their control over the function of
enzymes in biochemical pathways. Human Genetics
➔ It deals with the study of human
Cytogenetics DNA, genes, chromosomes,
associated disorders and how
 GENETICS
alteration within the human genome
LESSON 2: CELLS AND CELL
occurs.
DIVISION
➔ It studies the inheritance pattern,
severity of the disease and
probability of passing down. COMPONENT OF CELL
● Cell Membrane - Gatekeeper of the
cell
Clinical Genetics ● Protoplasm - Living substance of
➔ the medical specialty which provides the cell. ( Homeostatic unit -
a diagnostic service and genetic Protoplast )
counseling for individuals or families Protoplasm divided into 2:
with, or at risk of, conditions which 1. The one is found outside the nucleus —
may have a genetic basis. Cytoplasm
2. The one is found inside the nucleus
● Cytoplasm — Function: for
Preimplantation Genetics vegetative (activities such as
➔ is a laboratory procedure used in contraction, conduction, irritability,
conjunction with in vitro fertilization absorption, metabolism) except for
(IVF) to reduce the risk of passing reproduction.
on inherited conditions. ● Nucleus — Major function: for
cellular reproduction and control the
➔ In case of any abnormality, the cells
activities of the cell and also for
are removed from the embryo, only cellular division.
healthy cells are allowed to grow. It ● Organelle — living structure found
reduces the risk of passing down distributed in the cytoplasm.
any genetic defect.
Types of Organelles
Plant Genetics The nucleus
● Nucleus — for control of metabolic
➔ deals with heredity in plants,
activities as well as for mitosis. Tell
specifically mechanisms of the cell what to do.
hereditary transmission and variation ● Nuclear membrane — covers the
of inherited characteristics. nucleus
● Chromatin bodies/Chromatin —
Microbial Genetics Fine threads in the nucleus of the
➔ the study of the genetics of cell which contains the DNA or the
genes.
microorganisms– like bacteria,
“Kapag nagcondense yung chromatin
viruses, fungi, protozoa and bodies once na magundergo sa mitosis,
archaea. Alternatively saying— the kapag nasa mitotic phase na it would
field is the most advanced version of become chromosomes which is ito yung
microbiology. visible kapag nagm-mitosis”
● DNA ( Deoxyribonucleic Acid) —
can be found inside the nucleus. A
Epigenetics
macromolecule.
➔ studies gene expressions in different ● Genes — contains the DNA
tissues and organisms. ● Chromosomes — contain the
➔ Altered gene expression commonly genes
causes cancer and is the main focus ● Nucleolus — It can also be found
of epigenetic studies. inside the nucleus. It is responsible
 GENETICS
for creating ribosomes. It creates Cytoskeleton consists of a network of 3
rRNA to create ribosomes to also fibers.
create protein. 1. Microtubules — the largest. Made
up of a protein called tubulin. Its
The ER and transport of protein function is for structural support and
● Endoplasmic reticulum — transportation to the cell. The
passageway for transporting vesicles in the cells can transport
materials such as protein which is from one place to another by means
synthesized by the ribosomes. of microtubules.
Usually for the circulatory system of 2. Microfilaments — the smallest.
the cell. Responsible for the Made up of a protein called actin. It
transport. is more on elongation and
● Ribosome — Made up of RNA. It is contraction so they assist the cell to
responsible for protein synthesis move.
● Rough endoplasmic reticulum — 3. Intermediate Filaments — in size,
contains ribosomes which can be between microtubules and
used for protein synthesis. It microfilaments. It provides
transports proteins using vesicles. mechanical support in the cell.
● Smooth endoplasmic reticulum — ● Centriole — it serves as the skeletal
does not contain ribosomes but it system of the cell. It is for more on
produces lipids, cholesterol and mitosis. It is active during cell
hormones. It is also responsible for division and forms a mitotic spindle
detoxification or breaking of toxins. which consists of microtubules. It is
● Golgi Apparatus — it receives the the one that pulls apart the
vesicles and it modifies packages chromosomes in order to split into
and distributes lipids and proteins. It two.
gives the proper shape/formation of
the protein and exportation of protein Movement of the cell
out of the cell. ● Cilia — consist of tiny short hair like
structures. Many
Other organelles ● Flagella — consist of a long
● Mitochondria — Powerhouse of the whip-like structure. Few
cell and where the energy is *These two are made up of microtubules
produced. It has its own DNA. It's thus it is useful for the movement of the
responsible for cellular respiration. cell.*
● Lysosome — The suicide bags/sacs
of the cell. Responsible for cell
digestion or breaking down the food.
It contains digestive enzymes and it
destroys pathogens in white blood
cells.
● Cytoplasm — Jelly like fluid in the
cell. All of the organelles dissolve in The plant cell
the cytoplasm. ● Vacuole — The type of organelle
● Cytoskeleton — supports which does not contain cytoplasm. It
cytoplasm and other organelles. Its stores molecules such as enzymes
function is to maintain the shape of and waste products of the cell,
the cell and structural support. water, nutrients and even food
material.
 GENETICS
● Chloroplast — It contains the color
Occur in somatic or Occur in sex cells.
green because of the pigment called
body cell
chlorophyll which plays a role in
photosynthesis ( a process in Produces 2 Produces 4
which the plant takes sunlight, daughter cells daughter cells
carbon dioxide and water and (Diploid) (Haploid)
produces glucose and oxygen gas )
● Cell Wall — found in plants only
● Cell membrane — consist of Cell — the smallest unit of life. A cell has a
phospholipids bilayer. The gate of diameter of about 100 micrometers.
the cell where it allows some things Cell Cycle — A series of events that takes
to enter or blocken the passage of place in a cell as it grows and divides.
other things.

Animal Cells V.S Plant Cells

Animal Cell Plant Cell

Cell membrane Cell wall

None Chloroplast

Maliliit ang vacuole Malaki ang Vacuole

pero marami pero composed of
one lang

Present ang Absent and 2 MAIN PHASES OF CELL DIVISION

lysosome & lysosome & 1. Interphase (prep for division)
centriole centriole — The stage where cell growth occurs but
not cell division. This is where the cells
CELL DIVISION spend most of the time. Except cancer.
— a process wherein the cell divides to form Divided into 3 phases:
daughter cells.
● G1 Phase (10 hours) — Cell grows.
Types of Cell division
● Direct — the cell will just divide The longest phase of the cell cycle.
spontaneously. Also called, Produces extra organelles such as
Amitosis, in meaning absence. The ribosomes and proteins. ***Here, the
cell will not undergo stages before it cells have the choice if they will
could form daughter cells. ( More on, continue towards cell division.
Cancer cells and pathological cells )
*** If not, they will continue to G not or G0
● Indirect — the cells will undergo
several stages before it could form a or apoptosis (resting phase) — no more
daughter cell. Under the indirect cell cell division. Some cells do not need to
division: Mitosis and meiosis divide like neurons.
● 2. S Phase/Synthesis (9 hours) —
Mitosis V.S. Meiosis DNA synthesis. DNA replication
Mitosis Meiosis happens here.
● G2 Phase (4 hours)— another
Single Cycle Double Cycle growth phase wherein more directly
prepares for mitosis. It makes
 GENETICS
microtubules that will be used to pull
chromatids apart in anaphase. It
checks for errors.

3. ANAPHASE
— the centrosome starts splitting the
chromosomes apart.
— centromeres split and chromatin
separate
— chromosomes move to opposite spindle
2. Mitosis or the M/Mitotic phase (cell
poles
actually divides) (1 Hour)
— spindle poles move further apart
— 2 phases; mitosis and cytokinesis.
MITOSIS (PMAT)
1. PROPHASE - condensation of the DNA.
— Chromosomal material condenses to
form a compact mitotic chromosome
— Cytoskeleton it disassemble and mitotic
spindle is assembled
— Nuclear envelope dispersed 4. TELOPHASE - membrane forms around
each chromosome to create 2 nuclei.
— chromosomes cluster at opposite spindle
poles
— chromosomes become dispersed.
— nuclear envelope assemble
— organelles reforms
Prometaphase — Chromosomal
microtubules attach to Kinetochores of
Chromosomes. Chromosomes are moved
to the spindle equator.

2. METAPHASE CYTOKINESIS (Cyto = cell; Kinesis =

— the chromosomes align in the equatorial movement)
plane. The single cell pinches in the middle to form
— Chromosomes are aligned along the 2 separate daughter cells each containing a
metaphase plate. full set of chromosomes within a nucleus.
— Attached by chromosomal microtubules
to both poles
 GENETICS
LESSON 3: CELL INJURY, APOPTOSIS
AND NECROSIS

Cell injury results when cells are stressed

and can no longer adapt Injury may
progress through a reversible stage.

CHECKPOINTS OF CELL CYCLE

1. G1-S checkpoint
— Checks whether the DNA of the cell is
suitable for duplication or not
— Nutrients are sufficient, growth factors
are present, cell size is adequate and if
there is no error in the DNA.
— Cell grows and forms new organelles
***dito nagd-decide kung sa G0 phase or S
phase pupunta yung cell***
2. G2-M checkpoint
— Check any errors in the newly formed Reversible Cell Injury
DNA and if its replication is complete.
— If the DNA is damaged it will undergo ● Reduced oxidative
repair or automated cell death known as phosphorylation with resultant
APOPTOSIS. depletion of energy stores in the
***kapag walang error then dederetso na si form of adenosine triphosphate
(ATP)
cell sa M-phase***
● Cellular swelling caused by
3. Metaphase or M phase checkpoint
changes in ion concentrations and
— It checks if the chromosome is attached water influx
and arranged on the equatorial plate
properly or not Necrosis - pathologic (Only occurs on
— If arranged properly, the cell will enter the people with disease)
anaphase Damage to membranes is severe,
lysosomal enzymes enter the cytoplasm
Video links: and digest the cell, and cellular contents
1. Intro to Cell Structure leak out.
https://youtu.be/vwAJ8ByQH2U
2. Cell Cycle Phases Apoptosis - normal and pathologic
https://youtu.be/U5vAO_f2LDQ
DNA or proteins are damaged beyond
3. Cell Cycle repair, the cell kills itself characterized by
https://youtu.be/gTZ_vj-HdzM nuclear dissolution, fragmentation of the cell
4. Mitosis without complete loss of membrane integrity
https://youtu.be/DePnK9TwU6w
 GENETICS
● Apoptosis plays an important role in
development since it is a
programmed cell death.

Autophagy - normal and pathologic

- body's process of reusing old and
damaged cell parts.

Causes of Cell Injury

● Oxygen Deprivation Hypoxia is a
deficiency of oxygen that can result
in a reduction in aerobic oxidative
respiration. Extremely important
common cause of cell injury/cell
death.
THE PROCESS OF APOPTOSIS:
● Causes include reduced blood flow
Apoptosis is an important cellular process
(ischemia), inadequate oxygenation
that allows cells to die in a programmed
of the blood, decreased blood
fashion.
oxygen-carrying capacity.
● Apoptosis plays an essential role in
growth and development, such as
● Physical Agents Mechanical
in the womb, where the fetal hand
trauma, extremes of temperature
starts out as webbed, and fingers
(burns and deep cold), sudden
are formed through the programmed
changes in atmospheric pressure,
death of the cells in the web spaces.
radiation, and electric shock.
● Apoptosis also plays an important
role in removing faulty cells. For
● Chemical Agents and Drugs
example, pathological apoptosis
Infectious Agents
may be induced if cellular DNA is
● Immunologic Reactions
damaged beyond repair.
● Genetic Derangements
● Nutritional Imbalances
➔ In apoptosis, the cell is broken down
● Protein-calorie and/or vitamin
from within by proteins called
deficiencies.
caspases. For apoptosis to occur,
● Nutritional excesses
these caspases first need to be
(overnutrition)
activated.
➔ Caspase activation can happen via
two distinct pathways, called the
extrinsic and intrinsic pathways.

EXTRINSIC PATHWAY
➔ The first pathway is referred to as
the extrinsic pathway because the
initial signal comes from outside the
cell. This pathway is often initiated
by other cells, commonly by subsets
of T lymphocytes (These
lymphocytes have a surface
molecule known as FasLigand (or
FasL for short).
 GENETICS
➔ The extrinsic pathway is initiated abnormalities of too much or too little
when FasL binds to Fas receptors apoptosis.
on the surface of the targeted ● For instance, cancer cells survive
cell.This sets off a chain of and replicate because they are able
intracellular events that will to block apoptosis.
ultimately result in apoptosis. The
sequence is mediated by a Fas
Associated Death Domain or FADD. NECROSIS VS APOPTOSIS
➔ In the final step of the extrinsic
pathway, caspases activate each
NECROSIS
other in a self-amplifying process
called the ‘caspase cascade’. ● Necrosis is a process of cellular
➔ Apoptosis is then initiated as the death which occurs when cells are
active caspases begin the exposed to extreme conditions
breakdown of cellular materials. which are very different from normal
living conditions.
INTRINSIC PATHWAY
● This leads to damage to the internal
➔ The caspase cascade acts as a
cellular environment and rapid cell
common end-point for the second
apoptotic pathway, known as the and tissue damage.
intrinsic pathway. As its name
suggests, the intrinsic pathway is APOPTOSIS
initiated by signals from within ● Apoptosis is a pre-planned, regular
the cell. process of cell death occurring in the
➔ This intrinsic pathway is regulated by
body where the cell itself actively
maintaining a balance between two
sets of proteins in the mitochondrial takes part in its own death.
membrane: anti-apoptotic ● It occurs as a part of normal cellular
proteins, such as Bcl-2 and Bcl-x, multiplication and turnover to
and pro-apoptotic proteins, such as maintain balance.
Bax and Bak. ● Apoptosis is required for smooth
➔ In a healthy cell, the anti-apoptotic functioning of the body.
proteins bind to the pro-apoptotic
ones, thereby blocking their action.
➔ But if a cell is damaged or if it stops DIFFERENCE IN CAUSE AND
receiving survival signals, Bcl-2 and PRESENTATION
Bcl-x are blocked in turn.
➔ Bax and Bak are then free to punch ➢ Necrosis is a pathological process
a series of channels in mitochondria, which is detrimental to the body. It
allowing mitochondrial substances, occurs when the cells are exposed
such as cytochrome C, to leak out
to toxins, or on exposure to extreme
into the cytoplasm.
➔ The leaked cytochrome C binds to conditions which could be anything
Apaf-1 proteins to create a from increased temperature,
compound that then activates the decreased oxygen levels, etc.
caspase cascade. These conditions lead to damage to
the wall or membrane of the cell.
● Apoptosis plays a key role in
growth, immune surveillance and
➢ An inability to maintain normal
neoplastic development. In all of
these processes, there can be functioning in these conditions leads
 GENETICS
to an imbalance in the internal occur at any point of time. This is a
environment of the cell. random event which is unregulated.
➢ This leads to inflammation and
tissue damage which leads to ❖ Apoptosis is an active process
accumulation of cellular debris. which requires energy and occurs in
an organized manner.Many
❖ Apoptosis is a normal, natural enzymes and agents are required to
process which is necessary for the carry out various steps of this
body as it maintains a balance in the process.
number of cells in the body.
❖ If the cells do not die on time, it can
lead to a tumor or cancer formation SIGNAL TRANSDUCTION
which is an accumulation of ● On the surface of a plasma
unwanted cells. membrane, there are numerous
❖ If cells die too fast, it can lead to floating substances called
conditions such as AIDS, heart phospholipids in which some
disease and liver disease. surface proteins are attached and
are responsible for receiving signals
DIFFERENCE IN STRUCTURAL outside the cell.
CHANGES
● Some of these proteins are called
➢ In necrosis, there is loss of integrity receptors, and these are the
of the wall of the cell which leads to proteins that receive information
swelling of the cell’s contents as well from outside the cell. There are
as disintegration of small bodies of almost a thousand different types of
the cell. receptors, and just like enzymes,
receptors have an active site that is
❖ In apoptosis, there is no highly specific to one molecule or
disintegration of the cell small collection of molecules, which
membrane/wall, rather, there is a of we can refer to as ligands (These
cellular contents along with clumping could be something like a hormone
of the membrane. that was secreted by a glandular cell
❖ This leads to formation of far away from this one, that will
condensed bodies known as receive the message sent by the
apoptotic bodies. These bodies are other cell, and this message may or
recognized by the immune system of may not be specific to this particular
the body and destroyed efficiently by type of cell) Once this molecule
the immune cells. reaches the receptor it will bind to
the active site, where it will cause a
DIFFERENCE IN BIOCHEMICAL conformational change in the
REACTIONS receptor that will trigger some kind of
response which can fall into one of a
➢ Necrosis is a passive process which few different categories.
does not require energy and can
 GENETICS
➔ This will eventually reach its
Signal transduction - when the receptor destination and elicit a cellular
binds to its substrate and causes a response. Some other receptors
conformational change in the receptor allow for the absorption of bulk
which is a transmembrane protein that will quantities of a particular substance
span the plasma membrane. This change in through a process called
shape will cause it to either release receptor-mediated endocytosis. (a
something inside the cell or bind to form of endocytosis in which
something else inside the cell. receptor proteins on the cell surface
- the transmission of molecular are used to capture a specific target
signals from a cell's exterior to its molecule.)
interior. ➔ This happens when several
molecules of a particular substrate
G-protein - attached to the inner layer of bind to multiple receptors, and the
the plasma membrane, and once the it is receptors cluster into a pit which can
activated, it might bind to an enzyme, pinch off from the plasma membrane
causing another conformational change to form a vesicle, thus bringing the
which will release another different signaling molecules bound to the receptors
molecule like cyclic AMP, that will then inside the cell, as well as any other
diffuse within the cell and elicit a cellular solute that may have been inside the
response. pit.
➔ These are called second ➔ This material will then be liberated
messengers, because they are from the vesicle somewhere inside
different molecules from the ligand the cell and the receptors will return
that first activated the receptor, but to the plasma membrane. Certain
they carry the message into the cell receptors are not found within the
and amplify it, since they will be plasma membrane, but are instead
more numerous than the one inside the cell, either in the
molecule that initially made it to the cytoplasm or in the nucleus.
receptor. ➔ In these cases, the signaling
molecule must be able to pass
PHOSPHORYLATION CASCADE through the plasma membrane on its
own in order to reach the receptor,
Another pathway that can occur is when a which it can do if it is relatively small
a signaling molecule binds to a receptor and and nonpolar, like nitric oxide or
the conformational change in the receptor certain hormones.
immediately releases a relay molecule on ➔ Once an intracellular receptor is
the other side of the membrane. This relay activated by its ligand it might enter
molecule may then interact with various the nucleus and turn a gene on by
intracellular proteins in a phosphorylation acting as a transcription factor.
cascade, where certain molecules (proteins involved in the process of
exchange phosphate groups in a chain converting, or transcribing, DNA into
reaction. RNA)
 GENETICS
another protein once a specific
➔ As for the cellular responses, the ligand binds to it.
signal might result in a gene getting 3. Transduction - Since signaling
turned on or off. This is often to systems need to be responsive to
stimulate or halt the production of a small concentrations of chemical
particular protein. Other times a signals and act quickly, cells often
signal may cause a change in use a multi-step pathway that
metabolism by activating the transmits the signal quickly, while
enzyme that breaks down stored amplifying the signal to numerous
glycogen. Or the signal might molecules at each step. Steps in the
regulate cell division, which is why signal transduction pathway often
malfunctions in these pathways can involve the addition or removal of
cause tumor growth, if the signal to phosphate groups which results in
stop cell division is not being the activation of proteins. Enzymes
received due to a faulty receptor. that transfer phosphate groups
➔ Receptors are proteins that sit either from ATP to a protein are called
in the plasma membrane or protein kinases. Many of the relay
somewhere within the cell, and molecules in a signal transduction
certain signaling molecules like pathway are protein kinases and
hormones or neurotransmitters fit often act on other protein kinases in
into the active site of these the pathway. Often this creates a
receptors. Once they bind to the phosphorylation cascade, where
receptor they induce a one enzyme phosphorylates
conformational change in its another, which then phosphorylates
structure which will set off some another protein, causing a chain
kind of reaction pathway, whether reaction.
through other proteins or small 4. Response - Cell signaling ultimately
second messenger molecules that leads to the regulation of one or
then deliver the message to more cellular activities. Regulation of
wherever it needs to go in the cell so gene expression (turning
that the appropriate cellular transcription of specific genes on or
response takes place. off) is a common outcome of cell
signaling. A signaling pathway may
STAGES OF SIGNAL TRANSDUCTION: also regulate the activity of a protein,
1. Reception - A cell detects a for example opening or closing an
signaling molecule from the outside ion channel in the plasma
of the cell. A signal is detected when membrane or promoting a change in
the chemical signal (also known as a cell metabolism such as catalyzing
ligand) binds to a receptor protein on the breakdown of glycogen.
the surface of the cell or inside the Signaling pathways can also lead to
cell. important cellular events such as cell
2. Membrane receptors function by division or apoptosis (programmed
binding the signal molecule (ligand) cell death).
and causing the production of a
second signal (also known as a
second messenger) that then
causes a cellular response. These
type of receptors transmit
information from the extracellular
environment to the inside of the cell
by changing shape or by joining with
 GENETICS
the different CAMs on other
LESSON 4: CELL ADHESION AND cell.
STEM CELLS ❖ Main Types of CAMs
➔ Ig-CAMs (Immunoglobulin
super family of CAMs)
CELL ADHESION MOLECULES ➔ Cadherin
❖ Process by which cells interact and ➔ Integrin
attach to neighboring cells ➔ Selectin

Two ways of cell adhesion: ❖ Different function of CAMs

1. Cell-Cell Adhesion (Direct ➔ Involve in inflammation
Contact)- one cell makes immediate ➔ Responsible for
contact with the neighboring cell. tumorigenesis
2. Cell Matrix Adhesion (Indirect ➔ Establishment of blood brain
Contact)- Cells in animal tissues barrier
also adhere indirectly to the ➔ Lymphocyte homing
components of the surrounding ➔ Regulation of Apoptosis
extracellular matrix (ECM). ➔ Cell signaling

Cell Adhesion Molecules(CAMs) STEM CELLS

❖ it mediates the adhesion between ❖ Undifferentiated biological cells that
the cell can be converted into other cell
❖ Structure of CAMs types and can divide to produce
➔ Extracellular Domain (CM)- more stem cells.
where adhesive interaction ❖ Types of Stem Cell
occurs, the CAM binds to ➔ Embryonic Stem (ES) Cells
another CAM which is - Are the cells of the
present to the other cell. inner cell mass of a
➔ Transmembrane segment- blastocyst, an
transverse the cell early-stage embryo.
membrane of the cell. ➔ Somatic (from the body)-
➔ Cytosolic Domain- recruits also called Adult Stem Cell,
multifunctional adapter Stem cells that maintain and
proteins, these adapters act repair the tissue in which
as linkers that directly or they are found, they can be
indirectly connect the CAMs found in children, as well as
to the elements of the adults like skin stem cells.
cytoskeleton.
❖ Different ways of CAMs Interaction ❖ Potency- Property of stem cell to
➔ Homophilic Binding- one differentiate into different cell type
type of the CAMs bind to the ➔ Totipotency- single cell can
same type of CAMs be converted into any cell
➔ Heterophilic Binding- a type, (E.g. Embryo cell)
CAMs on one cell will bind to
 GENETICS
➔ Pluripotency- sing cell can
LESSON 5: REPRODUCTIVE SYSTEM
be converted into many cell
AND MEIOSIS
type (nearly all cell types)
(e.g. Inner cell of blastocyst)
➔ Multipotency- cell can Sexual reproduction - involves fusion of
develop into more than one gametes to give rise to a new individual.
cell type (e.g Bone marrow)
Gametes (sex cell)
➔ Oligopotency- Single cell ❖ sperm (male) - motile - they can
can be can be converter into move on their own kase may tail ung
few cell types (e.g. Lymphoid structure nila.
or myeloid stem cell). ❖ Sperms consist of a flagellum (as a
❖ Induced Pluripotent Stem cell tail), a neck that contains the cell's
- De-differentiation of cell (by energy-producing mitochondria,
and a head that contains the genetic
Yamanaka Gene)
material (nucleus).
❖ Application of Stem Cell
➔ Whole organ manufacture ❖ ovum (female) - non-motile - they
➔ Injecting into sight of can't move on their own so with
degeneration of cells in case sweeping movement of other
of alzheimer/Parkinson (both structures they are moved.
the nerve cell degenerative
Male Reproductive System
cell)
➔ Personalized medicine: every Testis (plural: testes)
person has different genetic ➔ oval shape structure and where the
material so if a medicine is sperm are produced.
working best for a person/ ➔ Major organ of male reproductive
individual specific medicines system.
which works best for the
Scrotum
person. These are called ➔ a bag-like structure that serves a
personalized medicine which covering skin over the testes.
are future medicine ➔ the pouch which contains the testes.
➔ Regenerative medicine also ➔ external sac that keeps the sperm
includes the possibility of at a temperature lower than that of
growing tissues and organs the body.
in the laboratory and
Epididymis (plural: epididymides)
implanting them when the ➔ massive coils that make sure the
body is derived from the sperms are carried outside the
patient's own tissue or cells; testes to vas deferens.
this would potentially solve
the problem of the shortage Vas deferens
➔ a single collecting long coil that
of organs available for
carries the sperm to ejaculatory
donation, and the problem of ducts.
organ transplant rejection.
Ejaculatory ducts
 GENETICS
➔ It heads to a destination where the ➔ Major organ of female reproductive
sperm gets mixed with nourishing system
fluid.
Fimbriae
Seminal Vesicles ➔ Finger-like projections that help to
➔ The glands make a solution that is receive ovum from the ovaries.
thick, yellowish, and alkaline
➔ It secretes a fluid that helps in Fallopian tube
nourishing the sperm. ➔ connect ovaries and uterus
➔ produce a thick fluid that is ➔ The site of fertilization.
alkaline in order to protect sperm
from the acidic nature of the female Uterus (womb)
vagina ➔ site of development of the baby.
➔ It also contains sugars to nourish ➔ Implantation of the fertilized egg.
the sperm.
Vagina
Prostate Gland ➔ Passage outside the body
➔ which helps in secreting the ➔ Receives the sperms
prostate fluid. ➔ The passage where the baby is
➔ produces the force necessary to released.
push the sperm out of the
epididymis at ejaculation Ectopic pregnancy - in which the fertilized
egg stays or implanted in the fallopian
Bulbourethral gland (cowper's gland) tube.
➔ formation of seminal fluid.
➔ emits a fluid just prior to
ejaculation that neutralizes acid
from any urine left over in the Meiosis - cell division of a diploid cell
urethra. into four haploid cells, which develop to
➔ is an exocrine gland which secretes produce gametes.
a clear fluid known as
pre-ejaculate that is generated Meiosis + fertilization = sexual
upon sexual arousal. reproduction

➔ Semen - mixture of sperm and Gametogenesis

spermatic duct secretions along ➔ the production of sperm
with fluids from accessory glands, (Spermatogenesis) and eggs
that contribute most of the semen's (Oogenesis), takes place through
volume. the process of meiosis.
➔ a fluid that carries the sperm. ➔ in which a diploid gamete cell
produces haploid sperm and egg
cells, respectively.
Urethra
➔ where the semen can be released Oogenesis
outside the body. ➔ occurs in the outermost layers of
the ovaries
Female Reproductive System ➔ oogenesis starts with a germ cell,
called an oogonium (plural:
Ovary oogonia), but this cell undergoes
➔ oval structures the production of mitosis to increase in number,
ovum.
 GENETICS
eventually resulting in up to one to egg containing all 46 chromosomes
two million cells in the embryo. of a human being, half of them
coming from the sperm.

Spermatogenesis
➔ occurs in the wall of the
seminiferous tubules, with stem cells
at the periphery of the tube and the
spermatozoa at the lumen of the
tube.

➔ Primary Oocyte - The cell starting

meiosis.
➔ This cell will begin the first meiotic
division, but be arrested in its
progress in the first prophase stage.
At the time of birth, all future eggs
are in the prophase stage.
➔ At adolescence, anterior pituitary
hormones cause the development of
a number of follicles in an ovary.
This results in the primary oocyte ➔ Primary spermatocyte - Meiosis
finishing the first meiotic division. begins with a cell.
➔ Secondary oocyte - The cell ➔ Secondary spermatocyte - At the
divides unequally, with most of the end of the first meiotic division, a
cellular material and organelles haploid cell is produced. This
going to one cell. haploid cell must go through another
➔ Only one set of chromosomes and a meiotic cell division.
small amount of cytoplasm goes to ➔ Spermatid - The cell produced at
the other cell. the end of meiosis.
➔ Polar body - This second cell ➔ When it reaches the lumen of the
usually dies. tubule and grows a flagellum (or
➔ A secondary meiotic arrest occurs, "tail"), it is called a sperm cell.
this time at the metaphase II stage. ➔ Four sperm result from each
At ovulation, this secondary oocyte primary spermatocyte that goes
will be released and travel toward through meiosis.
the uterus through the oviduct. If the ➔ Stem cells are deposited during
secondary oocyte is fertilized, the gestation and are present at birth
cell continues through the meiosis II, through the beginning of
completing meiosis, producing a adolescence, but in an inactive
second polar body and a fertilized state. During adolescence,
 GENETICS
gonadotropic hormones from the
anterior pituitary cause the activation
of these cells and the production of LESSON 6: EMBRYOGENESIS,
viable sperm. This continues into old
age. PRENATAL DEVELOPMENT AND
BIRTH DEFECTS

EMBRYOGENESIS
➔ the formation and development of
the embryo.
➔ the first eight weeks of development
after fertilization

zona pellucida (a protective membrane of

glycoproteins that had surrounded the egg
cell)

STAGES of Embryogenesis
Stage 1: formation of zygote/fusion of egg
and sperm

Stage 2: CLEAVAGE
- the first 12-to 24-hours after a zygote is
formed spent in cleavage – SPLITTING
WITHOUT GROWTH split into two,four,
eight, sixteen until 32 cell stage: morula)

Stage 3: DIFFERENTIATION
- cells start to get different from each other.
 GENETICS
- formation of trophoblast (outer shell - formation of trilaminar disk/ germ layers
layer), embryoblast (inner) (1)ectoderm (2)mesoderm (3)endoderm

Stage 4: BLASTULATION Stage 6: NEURULATION

- formation of inner cell mass (mass of cell - formation of notochord
in the middle of trophoblast and -thickening of ectoderm : Neural Plate
embryoblast) -the neural plate bends back on itself and
- blastocoel (rest of the fluid-filled cavity) seals itself into a tube known as the neural
- zona pellucida begins to disappear, tube that fits underneath the ectoderm.
allowing the ball of cells, called a -the borders of where the neural plate had
blastocyst, to grow and change shape. been pulled under with it, become the
neural crest. The neural tube will become
the brain and spinal cord.

Prenatal Development (PART 1)

Prenatal Development
- - process in which a baby develops from a single
- development of another cavity─amniotic cell after conception into an embryo and later, a
cavity(will eventually surround the fetus) fetus.
- in the 2nd week, cells will differentiate -takes 38 weeks to complete from the date of

further into epiblast (other side facing the conception.

blastocoel) and the hypoblast (the layer

Stages of Prenatal Development
facing the blastocoel): two layers of the
1. Germinal Stage
bilaminar disc - a flat slice across the
- begins at conception(the female egg is
developing sphere; splits 2 cavities
fertilized by the sperm)
-ovulation happens when one egg is released
Stage 5: GASTRULATION
once a month from a woman's ovary.
- three germ layers form; the cell mass is
-Few hours after conception, the
now known as a gastrula
single-celled zygote goes down the fallopian
- formation of primitive streak (site where
tube to the uterus.
the cells starts to migrate)
 GENETICS
- embryogenesis happens stage 1-3 Prenatal Development (PART 2)
Common Problems
2. Embryonic Stage
- begins after the cell mass is implanted During prenatal development abnormalities
in the uterus. may arise during prenatal development that

- lasts from two weeks through week are considered congenital, inherited,
genetic abnormality, environmental such
eight.
as material derived abnormalities
- most of the vital organs and body
systems form at this time.

Some cases abnormalities may arise during

prenatal development:
3. Fetal stage
-Physical malformations
- end of week eight to birth. -Developmental delays or affect various
- cells continue to divide parts of the body after the child is born.

- body structures become functional Cause by a small mutation or damage to the

- the fetus becomes capable of genetic material of cells or a major
chromosomal abnormality.
movement.
Sometimes the abnormality is inherited from
one or both parents in other cases the
Note: when a fetus is from 22 to 26
defect occurs because of an error in
weeks old, it may survive if birth occurs, prenatal development
but chances for survival increase the
some abnormalities are minor and do not
closer the term is to 36 weeks. affect the long-term prognosis once the
child is born

at the other end of the spectrum

abnormalities may be so severe that fatal
demise is inevitable approximately 10 to
15 percent of pregnancies end before the
20th week a process called miscarriages
or spontaneous abortion. Congenital
abnormalities account for a significant
proportion of miscarriages. Genetic
abnormalities account for approximately 5%
of miscarriages.
 GENETICS
Other environmental factors:
some examples of environmental factors Exposure to certain substances called
that may lead to developmental teratogens during pregnancy may cause
abnormalities: embryonic or fatal malformations.

Age- babies born to mothers between the Examples of terrata genes include alcohol,
ages of 17 and 35 tend to be healthier. thalidomide, cocaine, certain seizure
medications, diethylstilbestrol and the
- one reason is that the risk of certain anti-acne drug.
congenital abnormalities such as down
syndrome increases with mother's age PREMATURITY
particularly mothers over 40.
- advances in medical care have made it
- another reason is that the risk of having possible for many infants born prematurely
pregnancy or birth complications is to survive and develop normally.
greater with women over the age of 35.
- the earlier the gestational age the greater
Healthy status- in some cases a mother the chance of death or significant medical
may pass a viral or bacterial infection to problems whether or not a premature infant
the fetus such as human immune will survive is intimately tied to his or her
deficiency virus (HIV) in other cases a gestational age.
mother's illness may cause congenital
malformations an example is rubelia which 21 weeks or less= 0% survival rate
can cause heart defects, deafness, 22 weeks= 0 to 10 % survival rate
developmental delays and other problems 23 weeks= 10 to 35 % survival rate
in the fetus if the mother contracts it during 24 weeks= 40 to 70% survival rate
pregnancy 25 weeks= 50 to 80 % survival rate
26 weeks= 80 to 90% survival rate
Nutritional status a well-balanced diet rich 27 weeks= greater than 90 % survival rate
in nutrients such as folic acid calcium iron
zinc vitamin d and the b vitamins is Parental Concerns
recommended for pregnant women During prenatal visits to an obstetrician, a
pregnant mother should be educated in
certain vitamin and mineral deficiencies can proper nutrition and prenatal care often
interfere the normal prenatal development. prenatal vitamins are prescribed to avoid
for example a deficiency in folic acid nutritional deficiencies.
during the early stages of pregnancy
may lead to neural tube defects such as Prenatal testing is often recommended to
spina bifida mothers are recommended to parents to be as a means of assessing the
eat approximately 300 additional calories a fetus health and the risk of developing
day above and beyond a normal certain conditions
non-pregnancy diet to support the fitness
growth and development some prenatal tests that relate to prenatal
development are as follows:
 GENETICS
- Physical defects, like cleft lip
Blood tests to check for diseases that - Medical problems, like cystic fibrosis
could affect the fetus such as HIV, hepatitis - Intellectual disabilities like Down syndrome
b or other sexually transmitted diseases. - Run in families, like sickle cell disease.

Chorionic villus sampling a prenatal test One common type of genetic birth defect is
that takes a tiny sample of the placenta with a problem with chromosomes.
a needle to test for chromosomal Chromosomes are packages of genetic
abnormalities instructions found in each cell of our bodies.

Nuchall fold or nuchal translucency Extra or missing chromosomes can affect

screening test which measures a small the baby's health, physical appearance and
space at the back of the fetus neck using mental development.
ultrasound fetuses with larger nuclear foods
have a greater risk of having a This kind of birth defect usually does not run
chromosomal abnormality. in families.

Amniocentes is a test that takes a sample Women of any age may have a baby with a
of the fluid that surrounds the fetus and the chromosome problem, but the chance of
uterus to identify certain genetic disorders having a baby with this kind of birth defect
congenital malformations or the maturity of increases as you get older.
the fetus lungs.
If you wish to have information during your
UNDERSTANDING BIRTH DEFECT pregnancy about some birth defects,
consider having prenatal screening or
- Most babies are born healthy but every diagnostic testing.
woman has some risk of having a baby with
a birth defect.

Birth defects

About 1 out of every 33 babies (3%) is

born with a birth defect.

Imagine a room with 33 pregnant women.

Out of that group, there may be one whose
baby has a birth defect.

There are many kinds of birth defects, and

usually they happen unexpectedly. Birth LESSON 7: THE GENETICS OF AGING
defects can range from very mild to more
severe.
Centenarian
Birth defected sometimes:
 GENETICS
- a person who has reached the age of 100 In order to determine if something is
years. controlled by genes scientists introduce
mutations or modifications to genes and
Aging examine the response

- Organisms life span and also the rate of scientist randomly made mutations to
which the organism experience physical genes in the C. Elegan worms
decline
- used a technique that is called
- We all age in different rates “temperature sensitive mutations”

- some will grow up to 90 years of age but - while the worms DNA always contains the
still active while others will developed mutation, the protein produced from that
generative diseases at their 50s DNA behaves normally from normal
temperature, but it does not function
- Some of the features of aging can be due correctly when the worms are at higher
to environmental influences, such as diet, temperature
stress and exercise. But the environment
alone is not the main reason for how quickly - so the scientist did was grow their worms
we age at normal temperature of 15 degrees
celsius, so the mutation would not take
1990 – Cynthia Kenyon, from the University effect, and then after the worm progressed
of California at San Francisco thought it through their development, the scientist
may be possible that aging is in our genes shifted the worms to a higher temperature
of 20 degrees celsius at this higher
Cynthia Kenyon
temperature the mutations take effect.
- being a geneticist knew that most
- then they tracked the life span of these
processes were controlled by genes so she
worms and found that at the higher
thought that the rate of which we age are
temperature some worms lived twice as
genetically controlled
long as others.
- She attempted to find the gene
- These long lived worms had mutations in
responsible for aging in Humans
the Daf 2 gene that caused the Daf 2
- Dr. Kenyon’s laboratory used a model protein to be nonfunctional. This mutation
organism to find the genes responsible for doubled their life span, they were living
aging; the worm “C. Elegans” longer and healthier, they were still fertile,
able to feed properly and very active; they
C. Elegans simply seemed to age more slowly.

- small, simple organism and with a life span The scientist had found a gene, one
of 2-3 weeks single gene that when modified delayed
aging
- this rapid life cycle makes the study of
aging feasible Daf 2
 GENETICS
- Daf 2 protein is a receptor that
responds to insulin like signals Mendel concluded that there are certain
“factors” which are passed from one
When conditions are favorable for the C. generation to the other. But he explained
elegans, like when there is lot of food this better with the help of his first law in
around, signals through Daf 2 regulate genetics.
growth, metabolism and energy storage
1. Law of segregation
- When Daf 2 is nonfunctional, the worm ● Genes are the units of
doesn’t get these growth signals and sees heredity that carry genetic
the environment as “dangerous” in information.
response to these perceived danger signals ● Alleles are nothing but the
the C. elegans turn on protective pathways DIFFERENT FORMS of
to ensure their cells and DNA remain genes.
healthy, thereby delaying aging.
a. Assume we have these two
- Daf 2 is a conserved gene that is also
chromosomes. Here, we
found in many other species, including
have genes for the character
mice, flies and humans. When Daf 2 is
HEIGHT.
nonfunctional, mice and flies live longer as
b. We can have either both
well
capital “TT” or both lower
- in humans certain populations of case “tt”… and we can even
Ashkenazi Jews that have many have one capital and one
centenarians also have less functional lower case “Tt” as the gene
Daf 2 set.
c. Now here, the individual “T”,
- This suggest that Daf 2 can also controls that is the single gene is
rates of aging in our species as well nothing but the allele.
d. So the alternative form, that
- This findings were published in 1993 in is either dominant or
Nature in an article titled “A C.elegans recessive, is called allele. In
mutant that lives twice as long as wlld type” simple words, one single “T”
or “t” is an allele.
Because of this genetic experiments
scientists could begin studying the ➔ During gamete formation, the alleles
molecular mechanism of aging for each gene segregate from each
other such that, each gamete formed
carries only one allele for each gene.

LESSON 8: MENDELIAN GENETICS 1. The first part says “During gamete

formation”. This is the process of
meiosis. It is the type of cell division
The study of genetics is incomplete without
which gives us four cells with half
understanding the Laws put forth by
the number of chromosomes.
Mendel.
 GENETICS
2. The second part says, “The alleles ● Randomness is commonly
of each gene”. So here, “C” and “c” found in nature and in
is what we are referring to. That several things around us.
means one allele from the gene set. ● No fixed pattern. One of the
3. The next part of the statement is processes is that of the
“Segregate from each other”. This alignment of chromosomes
means the alleles will separate.They on the metaphase plate
will not remain together in the ● There are numerous ways in
process. which this can happen. And
4. It says that, “one gamete carries this is Random. There is no
only one allele for each gene”. fixed pattern or a principle of
Now this part means that at the end sequence that the
of the meiosis process, we will get chromosomes follow when
four cells, such that each cell will they align.
have only one allele in it. So here, a. We are considering all the sets to
two cells will have “capital C” and be heterozygous
the other two cells will have the b. So when the chromosomes get
“lower case c” allele. Thus each separated in the respective cells, it is
gamete gets only one allele. obvious that the genes will assort
5. To summarize, we can say that the independent of each other.
alleles for a gene segregate during
gamete formation There’s no thumb rule that all the dominant
Separate each other, each gamete alleles will perpetuate in one cell and all the
one allele recessive alleles in the other.

➔ The law says that “Genes for the

different traits assort independent of
each other during gamete
formation.”

1. The first part says, “Genes for

different traits”. This means we are
addressing the genes which
represent diverse traits.
2. The second part states, “Assort
independent of each other”. This
means the genes will not have a
But nobody knew this back in the earlier fixed pattern to follow when they
times. Hence it was hypothesised by segregate in the cells.
Mendel and then it was accepted as a law It is not mandatory that all the
later. dominant alleles will get assorted in the
cells together.
2. Law of independent assortment.
 GENETICS
To quickly review, the assortment of alleles
is purely random and does not have a ➔ “Some alleles are dominant while
predictable and fixed pattern during the others are recessive. An organism
process of gamete formation with at least one dominant allele
displays the effect irrespective of the
There can be more possibilities of obtaining presence of the recessive one”.
different combinations depending upon how
the chromosomes align themselves on the 1. The first part of the law says that,
metaphase plate. “some alleles are dominant while
others are recessive.”
★ If it’s a monohybrid cross, then there 2. Now the next part of the law states
will be no independent assortment of that, “An organism with at least
the different Alleles. one dominant allele, displays the
○ considering only one effect irrespective of the presence
character at a time. of a single dominant allele is
enough to express the trait
DIHYBRID CROSS or higher crosses which phenotypically.
involve MORE characters. 3. The law states “at least one
dominant allele”, which means if
one or even both the alleles are
3. Law of Dominance dominant, then we get the respective
dominant phenotype.
4. And the second part says that “at
● This is one of the best examples for least one dominant allele displays
understanding the fact that the effect, irrespective of the
“Dominance” is not a matter of size presence of the recessive one”.
Rather, it is never affected by size
Its presence masks or supresses the effect
● It’s the nature of the dominating of the recessive allele.
component that matters

a. We know how small genes and their

constituent alleles are
b. Yet, there is one form which
dominates the other
c. That is the reason why he put forth
the concept of Dominant and
recessive alleles with the help of his
law.

This law is called the “Law of Dominance”.

After the Monohybrid cross, Mendel
concluded that a few genes are dominant
while the others are recessive.
 GENETICS
Epistasis
LESSON 9: NON MENDELIAN - is the situation in which one gene
INHERITANCE affects the expression of other
genes

Non-Mendelian Inheritance Blood Types

Refers to the inheritance of traits that have
a more complex genetic basis than one Four main blood type- A, B, O, AB
gene with two alleles and complete Rhesus- positive or negative factor, based
dominance on rh blood groupings

Modes of Non-Mendelian Inheritance Antibodies- recognize and counteract

against substances that are alien or
Multiple Allele Traits unfavorable to the blood
- Are controlled by a single gene with - Proteins found in plasma. They’re
more than two alleles. Ex. ABO part of your body’s natural defense.
blood type for which there are three - Recognizes foreign substances
common alleles; A, B, O Plasma- liquid of vascular fluid
- Type of inheritance when more than Antigens- chemicals that induce an
two alleles can code or represent to immune response to a body or substance in
a gene/trait the blood
Codominance - Are proteins molecules found on the
- occurs when two alleles for a gene surface of red blood cells
are expressed equally in the
phenotype of heterozygotes. Ex. Blood types are determined by antigens and
ABO blood type, in which the A and antibodies
B alleles are codominant. Rule: You cannot have antibodies against
Incomplete Dominance yourself
- the case in which the dominant allele
for a gene is not completely The ABO System:
dominant to a recessive allele for the
gene, so an intermediate phenotype
occurs in heterozygotes who inherit
both alleles
Polygenic Traits
- are controlled by more than one
gene, each of which has a minor
additive effect on the phenotype.
This results in a whole continuum of
phenotypes.
Pleiotropy
- refers to the situation in which a
gene affects more than one
phenotypic trait. Ex. sickle cell
anemia
 GENETICS
blood is if you have both recessive alleles in
Blood group A- has A antigens on the red your genotypes
blood cells with anti-B antibodies in the
plasma Genotypes for Blood Types
Blood group B- has B antigens with anti-A Genotype- genetic combination of alleles
antibodies in the plasma - Entire set of genes in the cells of an
Blood group O- has no antigens, but both organism
anti-A and anti-B antibodies in the plasma - Refers to genetic makeup of an
Blood group AB- has both A and B organism
antigens, but no antibodies
Phenotype- set of observable
Percentages of each ABO type in the characteristics of an individual resulting
U.S. from the interaction of its genotype with the
45% Type O environment
40% Type A
11% Type B
Genotypes Phenotypes
4% Type AB
𝐴 𝐴
𝐼 𝐼 𝑜𝑟 𝐼 𝑖
𝐴 A Type Blood

𝐵 𝐵
𝐼 𝐼 𝑜𝑟 𝐼 𝑖
𝐵 B Type Blood

𝑖𝑖 O Type Blood

𝐼 𝐼
𝐴 𝐵 AB Type Blood

Blood Types and Punnett Square

Sample problem:
Maria and her husband are expecting their
first child. Maria is now in her 9th month of
pregnancy. Maria is a carrier of
O type blood- universal donor 𝐴 𝐴
homozygous blood type A (𝐼 𝐼 ) while his
AB type blood- is the universal receiver,
husband is a carrier of a heterozygous
and is considered as Royal blood 𝐵
blood type B (𝐼 𝑖). What will be the possible
Multiple Alleles for Blood Types blood type that their offspring will inherit?
I- universal use for blood typing
Step 1. Identify the traits present on the
𝐴 genetic problem
𝐼 - A type blood
𝐵
𝐼 - B type blood
-Maria is a carrier of homozygous blood
i- O type blood
𝐴 𝐴
type A ( 𝐼 𝐼 )
- Both A and B type blood are
CoDominant, while O type blood is
recessive and the only way to get O type
 GENETICS
Her husband is a carrier of heterozygous
𝐵
blood type B (𝐼 𝑖)

Step 2. Use a Punnett Square

MARIA ⇓ / 𝐵
𝐼 𝑖
HUSBAND
⇒
𝐴 𝐴 𝐵 𝐴
𝐼 𝐼 𝐼 𝐼 𝑖

𝐴 𝐴 𝐵 𝐴
𝐼 𝐼 𝐼 𝐼 𝑖

Step 3. Write the phenotypic ratio

Phenotypic ratio- shows the ratio of physical
traits that could possibly be inherited by the
offspring.
Note: should be in simplest form

blood type AB : blood type A

Step 4. Get the probability

50% blood type AB

50% blood type A