GENETIC ENGINEERING  Although the final goal of genetic
engineering is usually the expression of a
 Genetic engineering, also known as
recombinant DNA technology, means
altering the genes in a living organism to
produce a Genetically Modified Organism
(GMO) with a new genotype.
Various kinds of genetic modification
are possible:
1. inserting a foreign gene from one species
into another
2. forming a transgenic organism
3. altering an existing gene so that its
product is changed.
4. changing gene expression so that it is
translated more often or not at all.
TECHNIQUES OF GENETIC
ENGINEERING
 Genetic engineering is a very young
discipline and is only possible due to the
development of techniques from the 1960s
onwards.
 These techniques have been made
possible from our greater understanding of
DNA and how it functions following the
discovery of its structure by Watson and
Crick in 1953.
gene in a host, in fact most of the
techniques and time in genetic engineering
are spent isolating a gene and then cloning
it.
RECOMBINATION DNA TECHNOLOGY
 Recombinant technology begins with the
isolation of a gene of interest. The gene is
then inserted into a vector and cloned.
 A vector is a piece of DNA that is capable
of independent growth; commonly used
vectors are bacterial plasmids and viral
phages.
 The gene of interest (foreign DNA) is
integrated into the plasmid or phage, and
this is referred to as recombinant DNA.
 Before introducing the vector containing the
foreign DNA into host cells to express the
protein, it must be cloned. Cloning is
necessary to produce numerous copies of
the DNA since the initial supply is
inadequate to insert into host cells.
 When the cells are grown in vast quantities,
the foreign or recombinant protein can be
isolated and purified in large amounts.
 Once the vector is isolated in large
quantities, it can be introduced into the
desired host cells such as mammalian,
yeast, or special bacterial cells.
 The host cells will then synthesize the
foreign protein from the recombinant DNA.
 Other uses for recombination DNA is known as human gene
therapy (HGT)
 Recombinant DNA technology is not only
an important tool in scientific research, but Agricultural Applications
it has also impacted the diagnosis and
treatment of diseases and genetic  It is now possible to produce plants that
disorders in many areas of medicine.  will survive freezing temperatures, take
 It has enabled many advances, including longer to ripen, convert atmospheric
the follicle-stimulating hormone, insulin, nitrogen to a form they can use,
growth hormone and other proteins are manufacture their own resistance to pests,
now available as recombinant products.   and so on. 
 People may be tested for the presence of  By 1988 scientists had tested more than
mutated proteins that may be associated two dozen kinds of plants engineered to
with breast cancer, retino-blastoma, and have special properties such as these. 
neurofibromatosis.    Domestic animals have been genetically
 Tests exist to determine if people are "engineered" in an inexact way through
carriers of the cystic fibrosis gene, the breeding programs to create more meaty
Huntington’s disease gene, the Tay-Sachs animals, etc., but with genetic engineering,
disease gene, or the Duchenne muscular these desirable traits could be guaranteed
dystrophy gene. for each new generation of animal.

Human Application
CONTROVERSIAL TOPICS
 MITOCHONDRIAL REPLACEMENT
THERAPY
 GENE EDITING
 EUGENICS
 EPIGENETICS
 MATERNAL SPINDLE TRANSFER

 Genetic engineering makes it possible

for scientists to provide individuals who
lack a certain gene with correct copies
of that gene.
 For instance, in 1990 a girl with a
disease caused by a defect in a single
gene was treated in the following
fashion. Some of her blood was taken,
and the missing gene was copied and
inserted into her own white blood cells,
then the blood was returned to her
body.
 If—and when—that correct gene
begins to function, the genetic disorder
may be cured. This type of procedure
 GENETICS AND HEREDITY
What is Genetics?
 Traits are characteristics inherited from the
parents.
o Hair color, eye color, or skin color
 Heredity is the study of the way traits are
passed on from parent to offspring.
 Genetics is the science of heredity.
The Gene-Chromosome Theory
This theory states that chromosomes
(found in the nucleus of
the cell) are made of
small units called genes.
 Genes carry hereditary information and are
found at specific locations along
chromosomes.
Alleles
 Alleles are pairs of genes that carry the
same traits and are found at the same
locations on pairs of chromosomes.
 Each chromosome may contain several
hundred genes.
Variation
 The traits an organism inherits is
determined during the process of
reproduction.
 More variation are found in sexual
reproduction than by asexual reproduction.
 In sexual reproduction, the offspring
resembles its parents but is also different
from them.
Gregor Mendel
 Today’s knowledge about genetics is a
result of genetic studies started by Gregor
Mendel in the middle 1800’s.
 Because of his work, he is called
the “father of genetics.”
 Mendel did not know about genes,
but thought that certain “factors”
were responsible for traits passed
from parents to offspring.
Mendel’s Experiments
 Gregor Mendel conducted heredity
experiments using common garden pea
plants.
 Mendel crossed (mated) large numbers of
plants.
 Mendel concluded that there were traits
that always appeared (were expressed)
when they were present in an organism.
 The purebred plants are
called the parent (P)
generation.
 The offspring of a cross
between two parent (P)
generation plants are called
the first filial (F1) generation.
 The trait that always appears
when it is present is called the dominant
trait.
 The trait that is hidden by the dominant
trait is called the recessive trait.

GENETIC TERMS
 Homozygous Trait - Both genes for that
trait are the same.
 A pea plant with two genes for
tallness.
 Heterozygous Trait - Both genes for that
trait are not the same.
 A pea plant with one gene for tallness and

one for shortness.

 Genotype - The genetic makeup of an
organism.  
 Phenotype - The external appearance of
an organism.
 For example, an organism that looks
tall can have a genotype that is pure
tall or hybrid tall.  This is because
Hypotheses (Mendel) whenever the dominant trait is
present, the organism expresses
1. The genes that governs genetic characters (shows) the dominant trait.
occur in pair in individuals.
2. If different alleles are present in an
individual’s pair of genes, one allele is
dominant over the other.
3. The two alleles of a gene segregate and
enter gametes singly.

THREE LAWS OF INHERITANCE

1. Law of Segregation
2. Law of Dominance
3. Law of Independent Assortment
  It is also called semi-dominance or partial
dominance.
A Dihybrid Cross
 In mice, black is dominant over tan and
short tails are dominant over long.
 Write the genotype for a heterozygous
black, short- tailed mouse.
 B =  black
 b =  tan  
 S =  short tails
CODOMINANCE
 s =  long tails
 Phenomenon in which two alleles are
expressed to an equal degree within an
Gene Linkage organism. As a result, traits associated with
 Today, we now know that traits are not all
each allele are displayed simultaneously.
inherited independently of each other.
 Scientists have found that traits that are
located on the same chromosome tend to
be inherited together.
 Traits located on the same chromosome
are said to show linkage.

Crossing-Over
 Although linked genes are generally
inherited together, they can become
separated by crossing-over, which may
occur during a stage of meiosis. MULTIPLE ALLELES

 During this stage, the four chromatids
sometimes twist around each other.
 As they separate, the chromatids may
break, exchange segments, and rejoin.
 Exist in a population when there are many
variations of a gene present.
 In organisms with two copies of every
gene, each organism can express two
alleles at the same time.
 They can be the same allele (homozygous
genotype) or different allele (heterozygous
genotype).

 
Incomplete Dominance
 Incomplete dominance is when a dominant
allele, or form of a gene, does not
completely mask the effects of a recessive
allele, and the organism’s resulting
physical appearance shows a blending of
both alleles.

EPISTASIS
 Interaction between genes that influences
a phenotype.
 Genes can either mask each other so that
one is considered “dominant,” or they can
combine to produce a new trait.
Pedigree Analysis
Basic patterns of inheritance
 Autosomal, recessive
 Autosomal, dominant
 X-linked, recessive
 X-linked, dominant (very rare)
Symbols creating pedigrees
1. Male (square) vs female (circle)
2. Affected (shaded) vs unaffected (unshaded)
individual.
3. Marriage/mating line (line connecting
mates) vs sibship line (line connecting
siblings)
4. Fraternal twins (one birth line branching out
into the individual twins vs identical twins
(same as fraternal twins but with a
horizontal bar connecting the branches)
5. Generation (roman numerals) vs individual
in the same generation, counting left to right
(designated by Hindu-Arabic numerals)
6. Proband (arrow)
Autosomal, Recessive
 Trait is rare in pedigree.
 Trait often skips generations (hidden in
heterozygous carriers)
 Trait affects males and females equally.
Autosomal recessive diseases in
humans
 Most common ones 
 Cystic fibrosis 
 Sickle cell anemia
 Phenylketonuria (PKU)
 Tay-Sachs disease
 For each of these, over dominance
(heterozygote superiority) has been
suggested as a factor in maintaining the
disease alleles at high frequency in some
populations.
Autosomal dominant
 Trait is common in the pedigree.
 Trait is found in every generation.
 Affected individuals transmit the trait to 1/2
of their children (regardless of sex)
 There are few autosomal dominant human
diseases, but some rare traits have this
inheritance pattern. 
 ex. achondroplasia (a skeletal disorder
causing dwarfism)
 X-linked recessive pedigrees
 Trait is rare in pedigree.
 Trait skips generations.
 Affected fathers DO NOT pass to their
sons,
 Males are more often affected than
females.
Pedigree Analysis in real life
Remember:  
 dominant traits may be rare in population.
 recessive traits may be common in
population.
 alleles may come into the pedigree from 2
sources.
 mutation happens.
 often traits are more complex.
o affected by environment & other
genes.

X-linked recessive traits

 Hemophilia in European royalty
 Glucose-6-Phosphate Dehydrogenase
deficiency
 Hemolytic disorder causes jaundice in
infants and (often fatal) sensitivity to fava
beans in adults.

X-linked dominant pedigrees

 Trait is common in pedigree.
 Affected fathers pass to ALL their
daughters.
 Males and females are equally likely to be
affected.

X-linked dominant diseases

 X-linked dominant diseases are extremely
unusual.
 Often, they are lethal (before birth) in
males and only seen in females
 ex. incontinentia pigmenti (skin lesions)
 ex. X-linked rickets (bone lesions)