The Nature of Heredity and

Asexual Reproduction
Cell division and reproduction are
fundamental to life: growth, repair and
reproduction
Genetic Material
Some key definitions:

1. Genetics: study of heredity and variation

1. Deoxyribonucleic acid (DNA): molecule that carries

genetic information

1. Gene: segment of DNA that codes for a particular trait

1. Locus: where a gene is found on a chromosome

Chromosomes
● Found in the nucleus of all cells
● Vary widely between organisms in number,
shape and size.

In most multicellular organisms, chromosomes

occur in sets.
➔ Diploid = 2 sets of chromosomes
➔ Haploid = half the number of chromosomes
➔ Polyploid = 3 or more sets of chromosomes
Asexual Reproduction
...Creating a clone of oneself by:
1.Binary fission eg. Bacteria
2.Budding eg. Hydra
3.Fragmentation eg. Sea Stars Binary Fission

Fragmentation
Budding
http://www.youtube.com/watch?v=f7cXeWxxfD4
Asexual Reproduction

Advantages Disadvantages

● No need to find a mate ● Offspring are genetically

identical
● No energy to court a mate
● If environment changes
● Rapid increase in
the entire population
population (annelids can
could die
clone 8,000 – 17,000
individuals in 5
generations)
Cloning
● Process of forming identical offspring from a
single cell or tissues can be:
○ natural like from mitosis, grafting
○ created by humans (biotechnology)
Plant cloning

● First was a carrot plant in 1958 and used

specialized cells and plant hormones

● Today this is used to produce new strains of

plants with identical characteristics and is
widely used commercially (orchids, bananas,
grapes) http://vimeo.com/23908437
Animal cloning

● In 1996, Dolly the sheep was born… after 277 tries!!

(Since then, goats, cows, mice, pigs, dogs, cats, rabbits,
horses and camels have all been cloned)

● She was made from two cells and three sheep!

■ A body cell from an adult sheep was fused using

electric shock with an unfertilized egg lacking a
nucleus from a second donor. The resulting
embryo was implanted into a third sheep for
incubation!
Clone problems
● Do not live as long as normal organisms
● Suffer from a variety of health conditions (Dolly died prematurely of lung
disease)
● Have signs of premature aging like arthritis
Applications and Implications of Cloning
● Preservation of prize animals and plants with
valuable traits (ex: top-producing dairy
cattle)

● ...however, the cost is high and some

consumers will likely avoid purchasing
products from cloned organisms
Genetically Modified Organisms
● Cloning is used to move genes from one
species into another

● Ex: Human insulin has recently been put into a

safflower plant… the entire world’s supply of
insulin could be produced on 65 square
kilometres of farmland!

● Also: spider goats, vaccine bananas, healthy

bacon, potatoes to make more plastic!
http://www.youtube.com/watch?v=ktgACq4zcAU
Cloning Endangered Species
● 86 species of plants and animals in Ontario
alone are endangered (2011)

● Captive breeding programs are starting to make

use of cloning

● In 2009 the extinct spanish ibex (a wild goat)

was cloned… however, it died of lung defects

● Lack of genetic diversity is a problem

http://www.youtube.com/watch?v=mA9yjKk7xXk
 MEIOSIS
The formation of Sex
Cells!

1
 FIRST, SOME TERMINOLOGY
⦿ Gamete: A sex cell with half the # of chromosomes
as a somatic cell.
⦿ Sex Chromosomes: In humans, the 23rd pair of
chromosomes. This determines the biological
gender of the individual.
◼ Biological females have two “X” chromosomes: XX
◼ Biological males have one “X” and one “Y”: XY
⦿ Autosomes: All other chromosomes.
⦿ Haploid (n): A cell with ONE set of chromosomes.
◼ For humans, the haploid number is n = 23.
⦿ Diploid (2n): Having TWO sets of chromosomes.
◼ For humans, the diploid number is n = 46.

Gametes are Haploids.

Somatic cells are Diploids.
2
LABEL THE IMAGES WITH THE
FOLLOWING TERMS:
Gametes Somatic Cell Sex Chromosomes
Autosomes Haploid Diploid

3
A FEW MORE TERMS…
⦿ Fertilization: the fusion of male and female
gametes (n + n = 2n)
⦿ Zygote: the 2n cell resulting from fertilization.
⦿ Homologous Chromosomes: A pair of
chromosomes that share similar
characteristics.
◼ For instance, Chromosome 1
from the female and
Chromosome 1 from the male
create a pair of homologous
chromosomes.
◼ Both will code for the same
set of characteristics
(Eg. Eye colour), but each
may have different versions
of the characteristic
(Eg. Brown vs. Blue).
4
 WHAT IS MEIOSIS?!
⦿ The special form of cell division that
produces GAMETES
⦿ Remember these have HALF the
number of CHROMOSOMES as somatic
cells.

MEIOSIS:
DIPLOID (2n) →HAPLOID (n)
FERTILIZATION:
HAPLOID (n) → DIPLOID (2n)

5
MEIOSIS AND SEXUAL REPRODUCTION
 IN HUMANS, MEIOSIS
OCCURS IN THE GONADS
Ovary

Testicle

The formation of gametes:

⦿ Male: “SPERMATOGENESIS” - sperm
⦿ Female: OOGENESIS - egg or ova

Whether in a male or female, the process of

MEIOSIS is the same.
7
 OVERVIEW OF MEIOSIS

⦿ Starts with a “Germ Cell:” A

diploid(2n) cell that will
become a sex cell (n).

Involves TWO cell divisions:

Meiosis I
Meiosis II

⦿ Results in the production of

four haploid daughter cells

8
INTERPHASE
⦿ The germ cell starts off as a diploid,
2n.
⦿ Each CHROMOSOME replicates,
resulting in 4n.

2n 4n

9
 MEIOSIS I
PROPHASE I
⦿ The chromosomes
condense.
⦿ Sister chromatids are held
together by a centromere.
⦿ CROSSING OVER:
Segments of chromosomes
are exchanged between a
pair of homologous
chromosomes.
⦿ Tetrad: the entity made
when homologous
- Nuclear membrane
chromosomes cross. begins breaking down
- Centrioles start forming spindle fibres.
 MEIOSIS I

METAPHASE I
⦿ Homologous
chromosomes line
up in pairs in the
middle of the cell.

⦿ Spindle fibers attach to

centromeres.
 MEIOSIS I

ANAPHASE I
⦿ Homologous
chromosomes are
pulled to opposite
sides of the cell.
 MEIOSIS I
TELOPHASE I
⦿ Spindle fibres break down
⦿ New nuclear membranes
form.
⦿ If in a human, each nuclei
has 23 chromosomes – same
as parental cell.
⦿ Cytokinesis occurs, but the
2 daughter cells remain
adjacent to each other.
In Plant Cells:
In Animal Cells: A Cell Plate
Cell membrane forms between
is pinched. the cells.
 MEIOSIS II

PROPHASE II
⦿ Spindle fibers
attach to
chromosomes.
 MEIOSIS II

METAPHASE II
⦿ Chromosomes line
up randomly in the
middle of the cell
 MEIOSIS II

ANAPHASE II
⦿ Centromeres
split
⦿ Sister
chromatids
separate and
move to opposite
sides of each cell.
 MEIOSIS II

TELOPHASE II
⦿ Four nuclei form
around the
chromosomes.
⦿ Spindle fibres break
down.
⦿ Cytokinesis occurs.
 MEIOSIS & GENETIC VARIATION
⦿ Mitosis
◼ Asexual reproduction
◼ Daughter cells are genetically identical
⦿ Meiosis
◼ Sexual reproduction
◼ Gametes are genetically different – contributes to
diversity
How does meiosis achieve this?
1. Crossing Over in Prophase I: causes different
combinations of genes on chromosomes.
2. Random Order in Metaphase I: chromosomes line up
randomly, so it’s random which daughter cell each
chromosome ends up in.
 MITOSIS VS. MEIOSIS
• Both are involved in cell division
• DNA is copied before both mitosis and meiosis
MITOSIS MEOISIS
# Divisions 1 2
Pairing of Pairing of homologous Pairing of homologous
Chromosomes chromosomes does not chromosomes occurs during
occur. Prophase I.
Does it create
haploid of Diploid Haploid
diploid cells?
# Daughter 2 4
cells/parent
Genetic Daughter cells are Daughter cells are not genetically
Variation genetically identical identical.
Parental Cell / Somatic Cells in the Body Germ Cells in the Gonads
Location
Function in Growth & Repair Sexual Reproduction – providing
Plants & genetic variation
Animals
MITOSIS VS. MEIOSIS
Meiosis Summary Diagrams
SPERMATOGENESIS AND OOGENESIS
 SPERMATOGENESIS
• Production of sperm

• Occurs in the testes

• Seminiferous tubules
 WHAT HAPPENS IS …
• Spermatogonia (stem cells) are located in the
seminiferous tubules
• Spermatogonia are diploid
• Developing sperm undergo meiosis and differentiation
• 4 cells result Loading…
• Develop into mature sperm
• Haploid
Loading…
THE STRUCTURE OF SPERM

Campbell
 OOGENESIS
• The development of ova
• Mature, unfertilized eggs cells
• Happens in the ovary
• Oogonia (stem cell)
• Multiply and begin meiosis STOPS at prophase 1
• At this phase, the cells are called primary oocytes
• Remain in this phase until the onset of puberty, when
they are activated by hormones
 MAJOR DIFFERENCE
• 1. unevenness in the mitotic division/cytokinesis of
oogenesis
• Almost all the cytoplasm 1 daughter cell
(secondary oocyte)
• 3 polar bodies which degenerate

• Spermatogenesis = four mature sperm

MAJOR DIFFERENCE
The cells that produce sperm continue to divide
by mitosis throughout life (males)

Not the case forLoading…

women
*born with all the primary oocytes
 MAJOR DIFFERENCE
• Oogenesis has long resting periods
• Sperm is produced in an uninterrupted
sequence
Sex determination and
karyotypes
 Karyotypes
● During cell division (mitosis) chromosomes
can be stained, viewed and photographed
under a microscope.

● Scientists can then count and arrange

chromosomes according to size

● This helps them view abnormalities

Loading…
 Gametogenesis
Sperm = spermatogenesis
Eggs = Oogenesis

● Both produce 4 haploid cells

● However, with oogenesis, only one of the

four cells receives enough cytoplasm, the
other 3 are called polar bodies and die.
 Sex chromosomes and sex
determination
● Most species have at least one pair of
chromosomes that differs between males
and females

●
Loading…
These are called sex chromosomes. (Non
sex chromosomes are called autosomes)

● In human males one chromosome is much

smaller than the other (see image above)
 X and Y chromosomes
● large chromosome is called X
● Smaller is called Y

They are a homologous pair and undergo

synapsis (only the female)

XX = Female XY = Male
Diagram of sex determination:
DNA: Deoxyribose Nucleic
Acid
4.2 Structure
 • Deoxyribose nucleic acid:
DNA • Deoxyribose sugar
• Phosphate group
• Nitrogenous base
• Base = purine or pyrimidine
• Purines = adenine, guanine
• Pyrimidines = thymine, cytosine,
uracil
• Base is attached to 1’ Carbon of
sugar by a glycosyl bond. Phospahe
group is attached to the 5’Carbon
by ester bond
• (page 214)
Loading…
Loading…
 DNA is a Double Helix
• Sugar and
phosphate form the
backbone
• Bases lie between
the backbone
• Held together by
H-bonds between
the bases
• A-T – 2 H bonds
• G-C – 3 H bonds
Hydrogen bonds
• Base-pairing rules
• AT only GC only
• DNA strands are
anti-parallel, run in
opposite directions
 Erwin Chargaff
• A=T
• C=G
 Rosalind Franklin (1953)
• A purified substance
can be made to form
crystals; the pattern
Loading…
of diffraction of X
rays passed through
the crystallized
substance shows
position of atoms
• Told the structure
was helical
 James Watson and Francis
• Nucleotide bases Crick
are inside with a
sugar-phosphate
backbone on the
outside.
• These base pairs (A-
T and G-C) have the
same width down
the helix.
 DNA Structure
•It is a double-
stranded helix of
uniform diameter.
•It is right-handed.
•It is antiparallel.
•Outer edges of
nitrogenous bases are
exposed in the major
and minor grooves
 Searching for Genetic Material
• Freidrich Miescher(1869)
Page 206

– discovered DNA using

pus cells
– Isolated something new
from the nuclei that did
not act like protein.
– Called it nuclein
– Renamed
deoxyribonucleic acid
once composition was
determined.
 Searching for Genetic Material

• Joachim Hammerling (1930)

Fig. 6.1. Hammerling's experiment in Acetabularia showing

relative roles of nucleus and cytoplasm (redrawn from
Swanson : The Cell
 J. Hammerling
• the nucleus
determines the
characters of the
cell
• He two species of
a green alga,
Acetabularia. The
two species
 J. Hammerling
• species,namel y A. crenulata and A.
mediterranea
• While in A. crenulata the cap has loose
rays, in A. mediterranea an umbrella-
like cap is found.
• The nucleus in both the species is
situated in rhizoid at the bottom of stalk.
If cap is cut off, it will develop again and
its shape will be that of the original type.
 J. Hammerling
• shape of cap will be determined by
nucleus and not by stalk (pg207) . If the
nucleus belongs to A. crenulata, shape of
cap will be of the crenulata type and if
the nucleus comes from A, mediterranea,
cap will be of mediterranea type. When
both nuclei are present, shape of cap will
be intermediate.
Non-virulent vs.
Virulent
Bacteria

ROUGH: SMOOTH:
harmless kill
NOT HARMFUL
BAD/HARMFUL
 Griffith's Transformation Experiment
Used the Pneumococcus bacteria
– Include2 types:
a virulent S strain with a Smooth coat
– kills mice
a non-virulent R Rough strain
– does not kill mice.
Heat destroys (kills) living cells!!!
When heated Smooth (harmful) cells (DEAD) are
mixed with living Rough (benign) cells and injected
into mice, the mouse dies.
– WHY?
http://www.quia.com/files/quia/users/hlrbiology/Animations/08_DNA_and_Proteins/Griffith_Mouse_Experiment.swf
 Searching for Genetic Material

http://brookings.k12.sd.us/biology/ch12DNARNA/Chapter%2012A.mpg
 Searching for Genetic Material
Oswald Avery, Colin MacLeod, & Maclyn
McCarty (1944):
• Reported that “transforming agent” in
Griffith's experiment was DNA.
• Also used the Pneumococcus bacteria and
test tubes (NOT mice)
 The Avery, et al. Experiment
• Used S (harmful) strain http://wps.aw.com/bc_russell_ig
– Opened up the cells en_me_1/
– Isolated
• DNA, proteins and other materials SEPERATELY
– Mixed R bacteria with these different materials
– Only those mixed with DNA were transformed
into S bacteria.
OTHER S CELL
S DNA S PROTEINS + PARTS
+ R Bacteria (sugar/RNA)
R Bacteria +
TEST R Bacteria
TUBES
 The Avery, et al. Experiment
• Used S (harmful) strain http://wps.aw.com/bc_russell_ig
– Opened up the cells en_me_1/
– Isolated
• DNA, proteins and other materials SEPERATELY
– Mixed R bacteria with these different materials
– Only those mixed with DNA were transformed
into S bacteria.
OTHER S CELL
S DNA S PROTEINS + PARTS
+ R Bacteria (sugar/RNA)
R Bacteria +
TEST R Bacteria
TUBES
6.2 Mutations
SBI3U
Mutation: a change in the genetic code
● Can have a positive, neutral or negative effect on phenotype
Some mutations result in cell death and do not get replicated while others do not result
in death and are replicated as cells divide.

Caused by :
o Environmental agents (radiation, chemicals)
o Errors during cell division

Types of mutations
o Point mutations
o Chromosome mutations
1. Point mutations
Point mutation: a small-scale change in the nitrogenous base sequence of DNA

Base-pair substitution - nucleotide

is replaced by a different
nucleotide

Insertion - nucleotide is added

Deletion - nucleotide is eliminated

Altered DNA Protein

sequences are read by

ribosomes and result in
DNA

the production of Ribosome

altered proteins.
2. Chromosome Mutations

Chromosome mutation: an error that involves an entire

chromosome or a large part of a chromosome.
● Having too few or too many chromosomes due to improper
separation of chromosomes or sister chromatids
■ E.g. Down syndrome, Edwards syndrome, etc.

● Large scale deletions, insertions or inversions of portions of

chromosomes
Compared to a point mutation, chromosome
mutations affect a larger portion of the
chromosome or chromosome number.
 ● Mutations that occur in the
somatic cells are not passed
Inheriting down to offspring

Mutations ● Mutations that occur in the sex

cells (gametes) are passed
down. Offspring will have the
mutation in every cell of its
body
○ Offspring will be able to pass it
down to next generation
Mutations that Occur in Gametes

If the mutation is autosomal

dominant, it could be expressed
in the first generation and every
generation after that.

If the mutation is recessive, it

may not be expressed for many
generations and reappear later
on.
 ● Harmful and beneficial

Sickle Cell ● Disadvantage:

o affects function of

Anemia (SCA) haemoglobin; rbc

changes shape (C-shape)
when exposed to low
oxygen levels
● Advantages
o Protects against malaria
Sickle Cell Anemia - Substitution Point Mutation

● Adenine nucleotide substituted for a thymine nucleotide

● Results in the production of altered protein (altered function)
 ● People who are lactose intolerant
do not produce enzymes (lactase)
Lactose to break down lactose

Intolerance &
Tolerance
● Most people (75%) are
lactose intolerant
worldwide
● Lactose tolerant people
have a mutation in
chromosome 2!
● Genetic tests can help you
determine if you are
lactose intolerant
Mutations - spontaneous or induced?

Spontaneous Mutation Induced Mutation

● A mutation that occurs in nature or by ● A mutation that occurs because of
accident (randomly) exposure to an outside factor/
mutagen
● A result of a copy error in replication ● Examples:
for mitosis or meiosis ○ Radiation
○ Cigarette smoke
Antibiotic Resistance
Antibiotic resistance:
● describes strains of bacteria (superbugs) that are no longer susceptible to
the effects of antibiotics

Normal mechanism of antibiotics: attach to

specific bacterial cell wall causing bacterium’s
contents to burst out - bacteria dies.

● Problem: a mutation occurs in the bacterial DNA that helps prevent

destruction of cell wall. Resistant genes may be passed down.
Jumping Genes
● Barbara McClintock discovered that
an organism's genome is not static.

● Transposon: a specific segment of

DNA that can move along or
between chromosomes.

● Transposition: the process of

moving a gene sequence from one
part of the chromosome to another.
Hemophilia
● Previously learned: hemophilia
Jumping Genes is an X-linked genetic disorder
● In rare cases, it can also be
caused by a transposon if it
inserts itself into a normal blood
factor VIII gene
○ Males: one X chromosome has to
be affected
○ Females: two X chromosomes
have to be affected
 ● Microarray: a small membrane
or glass slide that has been
Microarray coated in a predictable and
organized manner with a
Genetic Testing
genomic sequence

● Can test hundreds or thousands

of DNA fragments and
determine if an individual has a
specific genetic disorder.
Principle:
complementary
sequences will bind to
each other indicating
presence of disease
6.2 Summary
Homework

❏ Page 239 #2-5

6.3 Genomes
SBI3U
The Human Genome Project

● There are 20,000 to 25,000 genes in the human genome

● Human DNA base sequences (order of A, C, T, G) have been analyzed
○ 3 billion base pairs in our DNA
● The order of the bases offers lots of information
● Scientists hope to use this information to cure diseases
Human Genome
Human Genome: the sequence of DNA nitrogenous bases found on the 23 sets of
chromosomes in humans

The human genome is composed of both coding and non-coding DNA

Coding DNA (2% of human genome)

● Regions of the DNA that code for genes and proteins

Non-coding DNA (98% of human genome)

● Regions that do not code for proteins
○ The majority is considered junk DNA
○ Mutations here are not a concern
Other Genomes
Comparison of numbers of genes

The water amoeboid has the largest

genome followed by the newt
(salamander).
● This does not necessarily
correspond to number of
coding genes.
 ● After determining the sequence

Functional of the genome, scientists

wanted to learn about the

Genomics relationship between genes

and their function.

● Information can be used to

screen for diseases and to help
make medical decisions
Functional genomics is used to determine the function or roles of genes
in an organism.
Functional Genomics - Model Organism
● Model organism:
an organism that can be used to study
biological functions of another organism
due to genetic similarity.

● Mice are model organisms for humans

○ Similarities between numbers and types of
genes
■ E.g. both have gene that codes for
hemoglobin (some phenotypic
differences)
 By mutating specific genes (in knockout mice), scientists can, prevent the formation of
normal proteins, and observe how the loss of the gene affects the mice. This can in
turn give scientists information on the normal function of the gene.

Knockout mice
 ● DNA information is considered
DNA Banks personal (unless under
investigation)
● A DNA bank is a database of
DNA sequences (stored
samples of DNA); the
sequences can be from plants,
animals or humans
● Can be used for screening and
genetic testing
● Can be used to store DNA of
endangered species
 ● a technique that creates an
DNA image/pattern of bands of DNA
on a gel that is unique to each
Fingerprinting individual
Which suspect matches the DNA fingerprint
sample?
Note: forensic detectives perform many tests and compare many bands from each sample
before determining likelihood of a match
Who is the offender?
DNA Fingerprinting - Uses

● To prove guilt or innocence

● Paternity tests
● Determining ancestry
● Identifying individuals in
unmarked graves
● To prosecute hunters or fishers
who hunt or fish certain animals
out of season
● To determine true source of animal
meat
6.3 Summary
Homework
❏ Page 244 #1-6 & 8
The Human Genome
Facts
• The Human Genome Project was a global scientific effort whose goal was to
generate the first sequence of the human genome. (3 billion base pairs)

• In 2003, a genome sequence that accounted for over 90% of the human genome
was generated. It was as close to complete as the technologies for sequencing DNA
allowed at the time.

• Only 2% was coding DNA and 98% noncoding

• Concerns and questions about sequencing the human genome helped to usher in a
greater emphasis on ethics in biomedical research.
Other genomes
• Largest genome sequence was of an ameba with 670 billion base
pairs
• Does not mean a greater number of genes
• May be noncoding
• Humans have- approximately 20000 genes
• See table 1 page 241.
Functional Genomics
• Functional genomics attempts to describe gene functions and
interactions.
• The relationship between gene and their functions
• Functional genomics make use of the data generated by genomic
projects
• Makes use of model organisms that may be used to study if simila to
another organism.
DNA Identification
• The National DNA Data Bank (NDDB) maintains a collection of more then half a million
DNA profiles.
• The main goal is to help support criminal and humanitarian investigations by:

• linking crimes together where there are no suspects

• helping identify suspects
• eliminating suspects where there is no match between a crime scene DNA profile and a
convicted offender's DNA profile
• determining if a serial offender is involved
• identifying a victim of a crime
• identifying human remains and assisting investigators, coroners and medical examiners to
find missing persons
• eliminating a voluntary donor from the focus of an investigation
DNA Fingerprinting
• Method of isolating and identifying variable elements within the
base-pair sequence of DNA (deoxyribonucleic acid).
• The technique was developed in 1984 by Alec Jeffreys
• Certain sequences of highly variable DNA (known
as minisatellites), which do not contribute to the functions
of genes, are repeated within genes.
• Each individual has a unique pattern of minisatellites.
• PCR amplifies the desired fragment of DNA many times over,
creating thousands of copies of the fragment.
• Once an adequate amount of DNA has been produced with PCR,
the exact sequence of nucleotide pairs in a segment of DNA can
be determined by using one of several biomolecular sequencing
methods.
 NAME: ____________________________
BABY BLOOD TYPE ACTIVITY
Mom is going to have a baby but there is some concern that the baby might have a genetic defect and
3 men claim to be the father. Your job is to determine if the baby will be healthy and figure out who
the father is. Use your knowledge of karyotypes, DNA fingerprints and blood type genetics.

CELLS FROM BABY, MOM BABY KARYOTYPE 11 What sex will the baby be?
AND MEN 1

Describe what is wrong

with the baby’s karyotype.

X
DNA FINGERPRINTS
21
1 Who is the father according to the DNA fingerprints?

How do you know?

List 3 cell types that could be used to obtain mom’s DNA.

31
Perform a cross between mom and the real father according to the 1
DNA fingerprints to show that they can produce the baby. Circle the
baby in the Punnett square.
BABY MOM BOB JOE SAM

Blood Blood Blood

Blood Blood Type O Type A Type B
Type A Type AB
41 If DNA fingerprints were not available and SAM claimed to be the
In case the baby needs a blood 1 father, use a cross and Punnett square to determine if he could possibly
transfusion, who could donate
be the father.
blood without causing medical
complications?
Genetic Engineering
 The Tools of Genetic Engineering

• Plasmid- small circular pieces of DNA that can enter and leave
bacterial cells

• Restriction enzymes- chemical scissors that can cut DNA at specific

sites. Results in either “sticky ends” or “blunt ends”
 The Steps of Genetic Engineering
Page 246
1. Identify section of DNA that contains desired gene from source
chromosome. (ex resistance to cold)
2. Chromosome with the gene is removed from the organism and
then the required gene is extracted using restriction enzymes.
3. Cut plasmid with the same restriction enzyme.
4. Insert required gene into vector(bacterial plasmid) and join with
another enzyme (Ligase).
5. Insert plasmid into host bacterial cell.
6. Place transformed bacterial cell into petri dish with recipient cells
and grow transformed cells to produce a GM organism.
Gene Therapy
What is it?
• The proses by which defective genes in a genome are corrected with
a normal copy of the gene.

• Target cell – the cell containing the defective gene to be replaced.

• Vector – plasmin or virus capable of inserting a piece of foreign DNA

into a cell
The Process
1. Remove any harmful genetic information in the viral vector.

2. Copies of the functional DNA gene are placed within the viral DNA.

3. Use large number of transformed viruses to infect a target cell.

Limitations
• No way to control location new gene is inserted into target cell.
• Might insert into noncoding section.
• Might disrupt a different functional gene.
• Immune system might defend against the transformed vector.
• Vector might revert back to being infectious agent.
Successes
1. Inherited blindness – photoreceptors in dogs, childhood blindness
in children (Leber’s congenital amaurosis LCA).

2. Duchenne Muscular Dystrophy – in mice

3. Deafness- guinea pigs

 Name:_______________________________________________ Date:___________

1. What part of the body is affected by epidermolysis bullosa?

Gene Therapy for “Butterfly Children”
Videos of the “butterfly children” are difficult to watch. The name comes from the
delicate skin of people who have epidermolysis bullosa, which is reminiscent of the
fragility of a butterfly’s wings. The slightest touch causes painful blisters and peeling
skin. Parents can be carriers of Recessive dystrophic epidermolysis bullosa 2. How is the disease currently treated?
(RDEB) without having any of the effects. RDEB affects about 1 in every 20,000 births
in the United States.

Parents of RDEB children provide intensive care for their children, which includes daily 3. What is a “contracture?”
full body bandage changes and use of antibiotics and antiseptics. These bandages
are made of special polymers that have low adhesion so they don’t tear the skin if a
parent pulls a bandage off.

The daily bandage changes, pricking of blisters, and removing flaky skin aren’t all the 4. Describe the role of Type VII collagen in skin?
requirements. Bathing can take hours. Complications include anemia, malnutrition from
mouth and esophagus sores that make eating nearly impossible, and skin cancer.
Scarring of skin can cause the fingers and toes to fuse together creating “mitten”
deformities. Patients may need surgical procedures to cut fingers free. Over time
rigid joints and deformities emerge as the damaged skin shrinks and tightens muscles 5. Use the graphic on the next page for a more detailed examination of how the
and tendons, causing contractures, which further reduces mobility. process works. What is the source of the modified fibroblasts?

In healthy skin, anchoring fibrils made mostly of Type VII collagen protein knit the thin
epidermis to the dermis below. In RDEB, any of 200 mutations prevent the formation of
the fibrils. Gene therapy may offer hope for repairing these mutations. How is the correct gene added to the cells?

Gene therapy uses viruses to deliver functional COL7A1 genes, which encode the
collagen, into cells taken from patients and growing outside the body (“ex vivo”), and
then injects the doctored self-cells into selected areas of skin. How are the fibroblasts modified?

RDEB gene therapy is localized, and would coincide with patients’ routine
hospitalizations, treating one skin area at a time. In younger children with RDEB,
wounds start emerging on the body before they become immobile with contractures by How are the modified cells then used to treat EB?
their early teens. One of the clinical strategies is to treat earlier and prevent these
small areas from becoming larger areas. Focusing on certain areas, like the
fingers,may better improve quality of life.
6. Consider the underlined sentence in the second to last paragraph. What does this
Fibrocell, a cell and gene therapy company, is targeting fibroblasts, and described mean for the success of the treatment?
the effect of their product on five wounds treated in three adults. At the 12-week mark
four of the wounds were greater than or equal to 70% healed and type VII collagen
produced, although anchoring fibrils were not yet observed.
 Name:_______________________________________________ Date:___________

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