THE CELL

- Is the fundamental unity of living matter

- Is the fundamental unit of biological activity and is capable of reproduction
Functions:
1. Transport of substances through the cell membrane (Transportation
Function)
2. Energy metabolism
3. Synthesis of protein and other cellular substances
4. Pinocytosis – amoeboid or “chemotaxic” movement of cells towards
chemical stimulus.

Cell – Tissues – Organs – Systems

Cellular Diversity
- The average adult has nearly 100 trillion cells
- There are about 200 different types of cells
(Sperm Cell, Smooth Muscle Cell, Neve Cell, Epithelial Cell)

Note; Cell Comes with the variety of shapes and sizes.

- Permits organization of cells into more complex tissues in organs.

General Rules:
 All organism are composed of one or more cells.
 All living cells came from other living cells
 Cells are the basic units of structure and function of an organism.

Note: There is only one nucleus in 1 cell except of red blood cells and
platelets as they are not nucleated, smooth muscle cells are multinucleated as
they are a lot of nucleus present)
TYPES OF CELLS
1. Eukaryotic Cells – contains a nucleus and organelles (more developed)

Note: Nucleus is separated from the other organelles. The genetic instruction
is house in the nucleus and carried out by the ribosomes,

2. Prokaryotic Cell – does not include a nucleus or specialized organelles.

- Lack a membrane bound nucleus and organelles
- Genetic Material is naked in the cytoplasm

Difference between Animal Cell and Plant Cell

 Prokaryotic vs. Eukaryotic

Note: The genetic material in the

Eukaryotic Cell is embodied in the nucleus, whereas in the prokaryotic cell, it is
just made with in the side or cytoplasm.

TYPES OF CELLS (Based on function)

1. Somatic Cells – make up living structures of the body (body cell or

autosomes)
2. Sex Cells – germs cells (involved in sexual reproduction)
CELL STRUCTURES
(Major Parts: Cell Membrane, Nucleus and Organelles)

1.) NUCLEUS
- Double membrane bound control center of the cell
- Contains chromosomes, each of which consists of a single molecule of
DNA.
Note: Chromosome contains thousands of hereditarian as genes.

Nuclear Structures

 Nuclear Envelope – double membrane that separates the nucleus from the
cytoplasm. Its function is to separate the genetic material from the rest of the
cell.
 Nuclear Pores – numerous openings in the nuclear envelope that controls
the movement of substances between nucleus and cytoplasm.
 Nucleolus – small, discrete, spherical, densely staining structures made up
of RNA; produces ribosomes.

Note: the more nucleoli, the faster is the rate of multiplication and division.

2.) CENTROSOME
- Very small rounded bodies found on both ends of the nucleus
- Regulates the rate of cell division and multiplication
- Contains centrioles

Note: this is necessary to stimulate the cell division and multiplication.

3.) CHROMOSOMES
- Long, linear chromatin materials combine with protein molecules.
- Contain the genes that represent all the traits of an individual.
- The genes are composed of segmented DNA.
 Types of traits

 Dominant Trait
- One which is represented or evident or manifests in majority of the
offspring or children in every generation.
 Recessive Trait
- One which may be seen only in a minority of offspring
- The trait may even disappear in one generation but will re-appear in
succeeding generations.

Types of expression of hereditary traits

 Phenotype
- The physical observable aspects of heredity as handed down from
generation.
- E.g., type of hair or eyes.

 Genotype
- The non-observable, non-physical aspects of heredity
- E.g., IQ or Talent.

4.) PLASMA MEMBRANE

- Protective layer
- Separates the cell’s internal environment from the outside environment.
- Selective barrier
- Gives the size and shape of the cell
- Plays a role in cellular communication

Note: Plasma membrane is a flexible yet sturdy barrier.

Fluid Mosaic Model of the Cell Membrane – arrangement of molecules within
the membrane that resembles a sea of lipids containing many types of proteins. The
lipids acts as barrier to certain substances, the protein acts as a keepers to certain
molecules and ion.
Layers and Composition
  Carbohydrate (mucopolysaccharides)
 Proteins (Peripheral and Integral)
 Lipids

Structure of the Plasma Membrane

Carbohydrate Portion – mucopolysaccharide is the strongest layer of the cell

membrane.
Lipid Bilayer – is the most important layer of the cell membrane. Responsible of
selective permeability or entry and exit of the different substances into the cell
membrane.
Glycoproteins – membrane proteins with a carbohydrate group attaches that
protrudes into the extracellular fluid. Carbohydrate + proteins
Glycocalyx – the “sugary coating” made up of the carbohydrate portions of the
glycolipids and glycoproteins. Carbohydrate + lipids
Integral Proteins – extend into or through the lipid bilayer
Transmembrane Proteins – span the entire lipid bilayer – necessary in the
transportation of the cells. Acts as channels and transporters to exit and entrance of
the substances such as glucose and ions.
Peripheral Proteins – attached to the inner or outer surface of the membrane, do
not extend through it.

Membrane Permeability
- The cell is either permeable or impermeable to certain substances
- The lipid bilayer is permeable (can pass through even without the
transportation system) to oxygen, carbon dioxide, water and steroids, but
impermeable to glucose.
Factors affecting the passage of substances
- Degree of ionization (not charge, it liquid soluble)
- Lipid Solubility
- Water Solubility
- Size of Substance
Transport mechanisms in the plasma membrane
 Active Transport
 Facultative of facilitated
 Passive
Osmosis – movement of solvent or water from a region of lower to lower solute
concentration.
Diffusion – movement of solute particles from a region of higher to lower
solute concentration.
Types of gradient
 Concentration Gradient
- Inequalities in the solute concentration of 2 solutios separated by a semi-
permeable membrane.
 Electrical Charge Gradient
- Differences in the net charge of the solute.

Transport in vesicles
Vesicle – a small spherical sac formed by budding off from a membrane
 Endocytosis – materials move into a cell in a vesicle formed from the
plasma membrane (out to in)
 Exocytosis – vesicles fuse with the plasma membrane, releasing their
content into the extracellular fluid. (in to out)
 Transcytosis – combination of endo and exo.
 Phagocytosis – cell eating

5.) CYTOPLASM

1. Cytosol
- Intracellular fluid, surrounds the organelles
- The site of many chemical reactions
- Reactions provide the building blocks for cell maintenance, structure,
function and growth.
- Water that is present.

Chemical composition:

Water
- Fixed and free state
(M:55-65% of the total body weight)
(F: 45-55% of TBW)
(Infants: 70-80% of TBW0

Solutions & their effects to the cell

 Isotonic Solution
- Has the same tonicity and osmolality as the blood
- Does not affect the amount of water in cells
- E.g., Isotonic Saline
 Hypotonic Solution
- Has the lower tonicity and osmolality than the blood
 - Drives water into the cell
 Hypertonic Solution
- Has greater tonicity and osmolality than the blood
- Drives water out of the cell into the environment

 CHO
- Primary source of energy (1gm = 4 calories)
- Stored in the form of glycogen or starch
 Fats and Lipids
- Serves as heat insulator and provides tissue elasticity.
- Stored in the form of triglyceride.
 CHONS
- Tissue-building (1gm = 4 calories)
- No storage form
 Electrolytes
- K, PO4. Na, Cl

2. Organelles
- Specialized and metabolically active structures or little organs within the
cell.

6.) RIBOSOMES
- Translate the genetic code into polypeptide chains\
- Found attached to the rough endoplasmic reticulum or free in the cytoplasm
- 60% RNA and 40% protein
- Contain RNA; site of protein synthesis.
Endoplasmic Reticulum
- Transport of materials within the cell
Rough Endoplasmic Reticulum
- Network of continuous sacs, studded with ribosomes
- Manufactures, processes, and transports proteins for export from cell
- Continuous with nuclear envelope.
- Characterized with the ribosomes
 Function:

The ribosome are connected to the membrane by a ribosome-binding protein

called ribophorins.

 Believed as passageway of proteins manufactured by the ribosomes

 Used as a means of communication
 They channel; products from the outside and other parts of the cell
 Thought as the cell’s membrane factory
 Found abundantly in the pancreas.

Smooth Endoplasmic Reticulum

- Involved in the synthesis of lipids, carbohydrates metabolism, and
detoxification of drugs and poisons.
- Metabolizes calcium.

Function;

 Metabolizes small proteins

 Contains cellular detoxification mechanisms
 Seems important in synthesizing and secreting steroid hormones, enzymes of
protein metabolism and enzymes of lipid synthesis.
 Functions in cholesterol synthesis and breakdown, fat metabolism and
detoxification of drugs.

7.) GOLGI COMPLEX

- Specialized portion of ER consists of 3-20 flattened, membranous sacs

called cisternae
- Modify, sort and package – proteins and lipids made by the ER for transport
to different destinations.
- Temporary storage depots for cellular secretions
- Site of synthesis of large CHO

8.) LYSOSOME
- Single membrane bound structure
 - Contains digestive (proteolytic) enzymes that break down cellular waste and
debris and nutrients for use by the cell
- For intracellular defense mechanism
- Autophagy and heterophagy
Lysosome Function

- are the site of cellular digestion.

- Contain up to 40 enzymes for digestion
- Acid Hydrolases (active at acid pH 5)

9.) PERIXOMES

- Spherical or oblong structures

- Smaller than lysosomes
- Production and degradation of H2O2
- Degradation of certain fatty acids and amino acids
- Detoxify several toxic substances
10.) MITOCHONDRION

- Ultrastructure
 Outer Layer
 Inner Layer
- Cristae – series of folds
- Matrix – the large central of fluid-filled cavity

- Site of cellular respiration

- More prevalent in physiologically active cells” muscles, livers and kidneys
- Self-replicate during times of increased cellular demand or before cell
division
- Known as the “powerhouse of the cell” that is the site of:
 TCA or Kreb’s Cycle
 Oxidation of pyruvic acid
 Oxidation of fatty acids, ketone body formation
 Oxidation of amino acids
 Synthesis of fatty acids
 Electron transport and oxidative phosphorylation.

Note: Mitochondrion is the only organelle that has DNA, that’s the reason
why it can undergo cell replication.

Cytoplasmic Inclusions
 a. Vacuoles – temporary dumping site for cellular wastes and storage of
glycogen or fats.
b. Inclusions
- Secretory Inclusion(enzymes, acids, proteins, mucosubstances)
- Nutritive Inclusions – (glycogen and lipids)
c. Pigments
- Pigment granules (melanin, lipofuscin, hemosiderin)
d. Fat Droplets
PH AND THE CHEMISTRY OF RESPIRATION

Definition of terms
- Acid is a potential proton donor and base is a potential proton acceptor.
(bronsted- lowry) Dos the weak acid HA is an acid because it can donate a
proton
- H ion concentration of solution is measured in terms of ph value. which is
the logarithm of the number of liters of a solution containing 1gram of H
Ions.
- All neutral solutions have the same ph value as water
- values above 7 ar alkaline, that is, OH Ions exceeds the h H Ion
- Values below 7r acid in reaction, the H ions exceed OH ions.
- that determination of H Ion concentration may be done either by
Electrometric method or by the use of standard buffers and indicators
(colometric)

Hydrogen and high hydroxyl

- Hydrogen (H) and Hydroxyl (OH) Determines the acidity or alkalinity of a

particular substance
- acids and bases which dissociate more readily are capable of librating
greater number of h or oh ions thus called strong acids or bases
- those which ionized only slightly liberate comparatively less h or oh ions
and our third weak acids or bases
- water is neutral since there is equal number of h and oh liberated
 - H2O → H+ + OH

Buffer substances
- are those which prevent the change of the reaction of a solution upon
addition of small amounts of acids or bases
- buffer solution consists of mixture of weak acids and their salts or weak
bases and their salts. when an alkali is added to a buffer solution the excess
OH ion combine with the h ions of the buffer solution to form water, Thus,

-NaOH + NaH2PO4 → Na2HPO4 + H2O

- upon the addition of a seed however the excess h ion come thus,

-HCl + NaHCO3 → NaCl = H2CO3 (weak acid)

Physical theory of respiration

- the exchange of gases between the outside air the blood and the
different tissues of the body is governed by the physical law of
diffusion
- gas will flow from a higher to a lower tension
- tension is the pressure exerted by gas in solution
- chemical control of respiration is exerted directly up on the
respiratory centers in the medulla and upon the chemical receptors
located at the bifurcation of the common carotid arteries and the arch
of the aorta.

1. Chemical control of respiration

- carbon dioxide is the main fact regulating the rate and depth of
respiration
- increasing the carbon dioxide content of the blood → increased rate
and depth of respiration → increased pulmonary ventilation\
 - Diminution of the pCO2 → slow and shallow respiration →
diminished respiration and decrease carbon dioxide elimination →
restoration of pCO2
2. oxygen transport

- the blood plasma when exposed to oxygen pressure present in the

alveoli air can take oxygen only to the amount of 0.2 to 0.3 volume
percent.
- Hemoglobin - protein made up of four subunits
- every subunit contains a heme moiety attached to a polypeptide
chain
- Hemoglobin molecules can transport up to four oxygen
- when for oxygen's are bound to hemoglobin it is 100% saturated with
fewer oxygen it is partially saturated
- hemoglobin affinity for oxygen increases as its saturation increases
- oxygen binding occurs in response to the high pO2 in the lungs.

Oxyhemoglobin formation
- oxygen molecule reversibly attaches to the heme portion of
hemoglobin
- Heme unit contains an which provides the attractive force
- O2 + Hb → hbO2

Maximum amount of oxygen that can combine with

hemoglobin of blood

- Normal hemoglobin negative 15 g per 100 ml of blood

- each gram of hemoglobin can bind 1.34 ml of oxygen
(Hufner Factor)
- the oxygen saturation of the rbc leaving the lungs is
around 96% while that of the venous hemoglobin is
 around 64%. this applies the 32% of the energy has been
delivered to the tissues.
- total oxygen bound with hemoglobin: 15 * 1.34 x 32 =
6.4 ml. oxygen is supplied to tissues per 100 ml of blood
passing through the capillary

factors affecting the dissociation Of Oxyhemoglobin

1. low oxygen pressure

- Whenever the pressure of oxygen is lower
the oxyhemoglobin rapidly dissociates into
hemoglobin and oxygen
2. high carbon dioxide pressure
- Increasing pCO2 (partial pressure of carbon
dioxide)
3. Low ph
- Acid other than carbonic and lactic acid
increases dissociation of oxyhemoglobin
4. rise of temperature
- increases dissociation
5. presence of electrolytes
- at low oxygen tension hemoglobin gives up
oxygen more readily in the presence of
electrolytes that it does include solution

3. Carbon dioxide transport

- carbon dioxide is carried by the blood both in the cells and in the plasma
- carbon dioxide is carried in the blood entry forms:
● in very small amount as dissolves H2CO3
- The amount is not large but is important because any change in
its concentration will cause markED alteration in the blood ph
● As carbamino bound CO2
- Foremed with proteins hemoglobin
 ● As bicarbonate combined with cations, Na and K
- At equilibrium, formation of carbonic acid is favored:
(FORMULA - CHECK THE PPT)
- At normal ph blood most of H2CO3 is present in the form of bicarbonate:
(FORMULA CHECK PPT)

Carbonic anhydrase is found in the muscles or right all cells of the

stomach participating in HCl production and in the kidney tubules
catalyzing hydrogen expression

Chemical theory of respiration

1. the wall of the rbc is a membrane permeable to water carbon dioxide
carbonic acid chlorine and hydrogen ions but not to hemoglobin and
plasma proteins and only is likely to Na and K Ions
2. most of the Na ions in the plasma while chose of potassium are in the
cells
3. most of the proteins in the rbc are combined with potassium the
amount varying in the different stages of the cycle
4. in the rbc not in the plasma there is an enzyme carbonic anhydrase
which has since the transformation of carbon dioxide and water into
carbonic acid and vice versa

acid base balance

● The acid-base balance depends upon the ratio of h2co3 TO

bhco3 (1:20)
● Normal metabolic activities of the body → production of
relatively large amounts of acids including carbonates sulfuric
phosphoric and organic acids like lactic acid and
hydroxybutyric acid.
 ● sulfur and phosphorus containing proteins → oxidized give
rise to h2so4 AND h3po4
● fruits and vegetables rich in positive radicals like Na, K, Ca
liberate potentially basic substances
● The maintenance of this normal ph is brought about by several
factors
- the buffer systems of the blood
- carbon dioxide elimination through the lungs
- renal excretion of acids and bases
under normal conditions urinary ph is about 6.0
under certain conditions the ph of the urine may vary
from 4.5 to 8.2
- renal formation of ammonia base conservation

Abnormalities of acid base balance

● Metabolic acidosis
- Produce Whenever available base is decreased although the
total base may remain unchanged
- takes place to during fasting and starvation where of for to
provide the necessary energy requirement → formation of
ketone bodies
- occurs and severe diarrhea where there is loss of large amount
of Na
● metabolic alkalosis
- occurs when the alkali reserve is increase although total base may
remain unchanged
- X’s vomiting and loss of large amount of chlorine → increase Na to
bind with HCO3
- X’s use of diuretics and administration of large doses of NaHCO3
● Respiratory acidosis or hypoventilation
- occurs in any condition in which there is interference with the
exchange of gases within the lungs of the carbon dioxide is not
adequately blown out
 - may happen in mark narcosis from drugs cns depression from any
cause emphysema and bronchiectasis
● Respiratory alkalosis or hyperventilation
- produce in any condition causing hyperventilation when this is not
the result of interference with the gaseous exchange in the lungs
- Occurs among nervous px Who are breathing rapidly due to some
frightening symptom or situation
- can be seen in high fevers cns lessons and anoxia of the cardiac type
or due to high altitudes
- the increased ventilation blows of large amount of carbon dioxide so
that the plasma carbonic acid concentration is decreased
NUCLEIC ACIDS AND HEREDITY

(Nucleic Acids is classified under biomolecules)

Nucleoproteins
Characteristics:
1. Proteins conjugated with nucleic acids (as DNA)
2. Principal constituent of the hereditary material in chromosomes (large part
of the nuclear material of the cell)
3. They are also found in the cytoplasm (ribosomes – are where protein
synthesis would take place.)
4. Present in all living cells.
Functions:
1. Duplication
2. Storage, expression and transmission of genetic information.
H3PO4 – Phosphoric Acid – it is very acidic and it is responsible of the
acidity for nucleic acids.

Note: Sugar that presents in nucleic acids are phentos sugars. (five carbon

containing sugars) Sugar presented in -- Deoxyribose for DNA and ribose

for RNA.

PRINCIPAL TYPES OF NUCLEIC ACIDS

 Note: Deoxyribose and ribose are both phento sugar

LOCATION
COLORS

Dna – Blue if positive.

Rna – Green if positive.

NUCLEIC ACID COMPOSITION

1. Sugar (Pentose)
2. Phosphate from Phosphoric Acid (is very acidic that’s the reason why it
gives nucleic acids their acidity)
3. Nitrogenous Base
 Purine and Pyrimide
Differentiation of Nucleotide and Nucleoside

PO4 - phosphate
Note; A monomer of nucleic acid is nucleotide.
If we talk with nitrogenous base that is classified as nucleotide.
Nucleotides:
Pyrimidine
- Thymidylic Acid

- Cytidylic Acid
- Uridylic Acid
Purine
- Guanylic Acid
- Adenylic Acid

NITROGENOUS BASE
Note: In nucleosides there is already an addition of sugars.
In nucleotides, addition of acid – not just about the nitrogenous base, sugar but it

also has the addition with phosphoric acids.

NUCLEOTIDES OF BIOLOGICAL IMPORTANCE

1. Adenine Derivatives
- Adenosine, monophosphate or muscle adenylic acid (AMP), adenosite
diphosphate (ADP) and adenosine triphosphate (ATP)
Note: These adenine derivatives are involved in energy production in living
cells by acting as carriers or transfer agents for the phosphate groups.

2. Uracil Derivatives
- Uridine diphosphate glucose (UDPG) and uridine diphosphate galactose
(UDPGal) are involved in glycogen formation
- Uridine Triphosphate (UTP) which is associated with energy transfer in the
conversion of glucose and galactose

3. Cytosine Derivatives
- Cytosine Triphosphate (CTP) its is important in the synthesis of
phospholipid particularly lecithin and cephalin in the body.
4. Coenzyme – vitamin substances – several vitamins in the B complex group,
found in the nucleotype lingues and they are function as conenzyme in
many biological reaction of licing cells.

DEOCYRIBONUCLEIC ACID (DNA)

- A giant molecule consists of repeating units of nucleotides

- Double Stranded: coiled together around a common axis

DNA: Structure

 Spiral Staircase: double helix

 The 2 strands are antiparallel because each as the polarity crew to the
other
 Sugar – PO4 (Phosphate) – side of ladder
 N bases connected by H bonds: Rungs/steps or comprise of nitrogenous
bases connected by the hydrogen bond.
BASE PAIRING

Each side are antiparallel

PHOSPHATE BACKBONE

Note:
It follows a pairing wear by
Adenine is paired with thymine (double bond present)
Cytosine is paired with guanine (triple bond present)
Bond made of Hydrogen Bond

DNA: MECHANICS OF FORMATION

 Complementary base Pairing: the 2 strands are held together by
complementary base pairing

A=T;G=C

 There are always the same number of A bases as T bases and G as C.

DNA: CHARGAFF’S RULE

 The base composition of the DNA of all organisms is CONSTANT
 The amount of purine bases is always EQUAL to the amount of
pyrimidine bases (1:1)
 A=T;G=C
DNA: FUNCTIONS
 Stores all the information about the proteins that make up the organism
(genetic material)

 Gene: DNA Segment that codes for the biosynthesis of specific protein
 Chromosome: densely packed DNA during mitosis (visible under a light
microscope)
 Chromatin: less densely packed DNA (accessible to the transcription
and replication of enzymes)
 Heterochromatin / nuclear chromatin: consists of densely packed
DNA; darkly stained areas of the nucleus (transcriptionally inactive)
 Euchromatin / Parachromatin – not tightly packed DNA; lightly or
poorly stained areas in the nucleus (transcriptionally active)
 RIBONUECLEIC ACID (RNA)
Structure:
 Single-stranded/ helix
 Ribose-PO4: backbone
 Bases are variable and stick out from the backbone; ration is NOT always
1:1
Note: DNA: Pyrimidine Base – Cytosine and Thymine
RNA: Cytosine and Uracil
 Can have a 2 degrees structure: hairpins, step-loops
 Can have a 4 degrees structure: pseudoknot, cloverlead
 RNA molecules are classified according to their structure and function

DNA is always bigger and larger than RNA

RNA: ROLES
 Serves as the carrier of genetic information to the site of protein synthesis
(mRNA) Note: DNA contains the genetic information while RNA carries
the genetic information.
 Essential component of the ribosomes
 Serves as the genetic material for some viruses
RNA: TYPES

Ribosomal RNA is the largest and highest in amount.

Functions:

mRNA:
 Carries the genetic code to cytoplasm for the formation of protein
tRNA:
 Transfers amino acid molecule to the ribosomes during protein syntheses
(smaller)
rRNA:
 Constitute 40% - 50% of the ribosomes (attached to the ER for protein
synthesis)
 Function is structural and many also be catalytic for some translation
reactions.
4 MAJOR DIFFERENCES BETWEEN RNA AND DNA
 Ribose is the sugar unit in RNA
 Thymine is replaced by uracil in RNA, Uracil pairs with adenine
 RNA is single stranded, thus it does not contain equal amounts of
specific bases
 The RNA is much smaller than the DNA (from 27 nucleotides to a few
thousand nucleotides)

PROTEIN SYNTHESIS
Three Stages: Transcription, Translation, Formation of Polypeptide Chain

THE CENTRAL DOGMA (BY FRANCIS CRICK IN 1957)

 Explains the flow of genetic information within a cell
 DNA  mRNA  Protein
 Also known as “one gene-one protein hypothesis”
- The genetic information contained in one gene of a DNA Molecule is used
to make one molecule of mRNA by a process known as transcription.
- The genetic information in that mRNA molecule is then used to make on
protein by a process known as translation

PROTEIN SYNTHEIS
1. Transcription
 The process by which a segment of the DNA is cut off or nicked from the
molecule by the enzyme RNA Polymerase
 The detached portion together with its accompanying nitrogenous base
will serves as a template for the formation of a complementary strand
finally resulting to the formation of a m RNA (occurs in the nucleus)
 To reconstruct the DNA molecule: OKAZAKI fragments are put togther
by LIGASE
 MRNA leaves the nucleus and goes to the ribosome, it carried with it the
codon.
TRANSCRIPTION PROCESS

2. Translation
 The process by which tRNA accepts the codon carried by the m RNA,
reacts, translates, and decodes the message
 Pertains to the production of the 20 amino acids. (combine together they
will formed polypeptide which is protein)
ELONGATION – translation

Three phases
1. Initiation gene recognition
 RNA polymerase enzymes and DNA form a stable complex at the
gene promoter
 Promoter specific DNA sequence that acts as a transcription start site
2. Elongation
3. Termination
Over view of gene
Genetic mutation
 A mutation is a change in the DNA base sequence that alters the structure
and the function of the protein in the cell
Kind of mutation
 Beneficial
 Harmful
  Lethal
 Silent
Types of mutation
1. Substitution- a mutation that replaces one base in a DNA with a different
base. The change in the codon may cause a different amino acid to be
inserted at that point in the polypeptide
2. Frame shift mutation- a mutation that insert or deletes a base in a DNA
sequence
Substances Normal sequence Frame shift Effect of the
mutation
A is added A is deleted
DNA -CCC-AGG- -CCC-AAG-GTT- -CCC-GGT-TT
TTTT- T
Shift in codoms
mRNA -GGG-UCC- -GGG-UUC- -GGG-CCA-AA
AAA- CAA-A
Incorrect order
Amino acid -Gly- Gly-Phe-Gln -Gly-Pro
sequence

Factors that cause mutation

 Viruses
 Chemical (industrial, pesticles, food, addetives, hair dyes, cosmetic)
 Ultra violet light (over exposure to sun)
 X-rays
Mutagen- the agent that causes mutation which include chemical agent or various
types of radiation
 Ames test- developed by Bruce Ames, is the standard test of mutagenicity
The following show the effect of mutation
Some genetic disease
 Down’s syndrome- is the leading cause of mental retardation, occurring in
about 1 of every 800 live births. Mental and physical problem including
heart and eye defects are the result of the formation of the three
chromosome, usually chromosome 21, instead of a pair
 Sickle-cell anemia- a defective hemoglobin from a mutation in a gene on
chromosome 11 decreases the oxygen carrying capacity of red blood cells
that take on a sickle-shape, causing anemia and plugged capillaries from red
blood cell aggregation
 Galactosemia- absence of the transferase enzyme required for the
metabolism of galactose-1phosphate, leading to cataracts and mental
retardation
 Cystic fibrosis- the most common inherited disease, thick mucus secretion
make breathing difficult and block pancreatic function
 Familial hypercholesterolenemia- a mutation of a gene on chromosome 19
characterized by high heart disease in 30-40 year-old persons
 Muscular dystrophy(duchenne)- one of 10 forms of MD caused by mutation
in the X chromosome occurring in about production of dystrophin by the X
gen, a muscle destroying disease beginning at about age 5 with death by age
20
 Hemophilia- one or more defective blood clotting factors leading to poor
coagulation, excessive bleeding and internal hemorrhages
 Tay-sach’s disease- a defective hexosaminidase A, causing an accumulation
of gangliosides resultion in a mental retardation, loss of motor control and
early death
 Huntingtom’disease- a genetic disease appearing in middle age affecting the
nervous system that leads to total physical impairment, result of a mutation
in a gene on chromosome 4, which can now be mapped to test people in
families with HD
4 means of manipulating gene
 Genetic engineering- uses the techniques of molecular cloning and
transformation to alter the structure and characteristic of gene directly
 1. Most of these experiment has been done with E. coli, which contain a
single chromosome and several small cyclic DNA particles called
plasmids
 Recombinant DNA technology
 Genetic manipulation (GM)
 Gene splicing
 Over the past 25 years, geneticist have been cutting, splicing, and rejoining
DNA from different genes to form a new synthetic DNA called recombinant
DNA
Some successful applications of genetic engineering
 Improving crop technology
 Manufacture of synthetic human insulin thru the use of modified
bacteria (E. coli plasmids)
 Manufacture of erythropoietin in hamster’s ovary cell
 Production of new types of experimental mice such as the oncomouse
(cancer mouse) for research
 Created the human growth hormone as a replacement for a drug that
was previously extracted from human cadavers
 In 1987, the FDA approved the first genetically engineered vaccine
for humans for hepatitis B
 The protein interferon, which helps fight viral infection and possibly
cancer, has been produced by recombinant DNA
 Creation of genetically modified organisms (GMO’s) such as food
and vegetable that resist pest and bacterial infection and have longer
freshness that otherwise
 Human genetic engineering can be used to treat genetic diseases
 Human genetic engineering is already being used on a small scale to
allow infertile women with genetic defects in their mitochondria to
have children, health human eggs from a second mother are used
 Genetic engineering has the potential to change human beings,
appearance, adaptability, intelligence, character and behavior