At the end of this lesson, the learner should be

able to:

• define what a gene is;

• differentiate gene therapy from stem cell LEARNING
therapy;
• explain the importance of gene therapy in
the future;
OUTCOMES
• demonstrate processes of gene therapy;
and
• show in life 'situations genes' importance in
education.
 INTRODUCTION
Genetic risks to health come from variety of
sources and predicting those risks can be much
more complicated than simply assessing
disease inheritance patterns. The majority of
health conditions are not related to a single
genetic cause but result from a combination of
inherited and environmental influences.
Understanding
Gene Therapy
The expression of genetic conditions is not always as a
simple as the amount of DNA (deoxyribonucleic acid)
present, or the inheritance patterns of a single gene
disorder. There are many factors that determine how
one's genotype (genetic makeup) correlates to one's
phenotype (physical manifestations). Among these are
penetrance, expressivity, mosaicism, and X-
inactivation.
Penetrance
Penetrance is a measure of how often a
disease genotype correlates to the disease
phenotype. For example, in a completely
penetrant disease, every individual who is
genetically positive for the disease would
have clinical manifestations of said disease.
In contrast, for diseases with incomplete penetrance,
some individuals who are genetically positive for that
disease may be entirely asymptomatic.

Organisms inherit genetic information in a variety of

ways that result in continuity of structure and function
between parents and offspring. Suppose you as a child
have a genetic disease-one that could be cured by diet
or a similarly straightforward therapy.
Cases of prenatal or perinatal diagnos of a birth defect or an
enzyme deficiency is one situation where DNA diagnosis could
be immediate beneficial use.

A person's DNA sequence to my mind should be protected by

law from distribution to other parties without the individual's
specific permission. This goes the same with physicians who
have obtained such information, who should also treat it as they
do any privileged material.
The introduction of foreign genes into organisms
doesn't seem to be dangerous. The resulting
organisms don't appear to be better able to
reproduce than any others. Attempts to remedy
human disease by somatic gene therapy also
don't appear to pose ethical dilemmas.
But the introduction of genes into the human germ line
does. The diagnostic procedures that genetic
engineering allows are very powerful. Before anything
else, it will be relatively easy to correlate the presence
of various DNA polymorphisms with disease and other
hereditary characteristics.
Genetic Engineering
Gene therapy involves altering the genes inside your
body's cells in an effort to treat or stop the disease.

It involves the removal of a desirable gene from cell,

adding it to the gene structure of a bacterial cell and
replacing the recombinant DNA into the bacterial cell.
The bacteria then have the capability to produce the
protein but the original animal or plant cell.
Knowledge of genetic is making possible new fields of health
care. An example is the finding of genes that may have
mutations that can cause disease will aid in the development of
preventive measures to fight disease.

Substances such as hormones and enzymes, from genetically

engineered organisms may reduce the cost and the side effects
of replacing missing body chemicals.
The gene therapy has become a common used
term in biomedical research. This process
involves the splicing of functional genes into cells
that contain defective, nonfunctional genes for a
particular trait. The clinical techniques used to
accomplish gene therapy are still being worked
out.
Diseased People Cured by
Fixing Their Genes
There are two quite different procedures that are being debated
under this heading, and they need to be discussed separately.
The first procedure is to insert foreign genetic material into the
germ line-into sperm or eggs-where they could be passed on to
succeeding generations. The second procedure is to use
genetic engineering to insert foreign genes into somatic cells-
into any cell except sperm or eggs and their progenitors-in an
effort to correct some genetic defect.
Treating human genetic disease by purposely changing the
genes that are passed on to succeeding generations seems
potentially dangerous and ethically unsound. It is dangerous
precisely because of the problems brought up at the very
beginning. There is a great possibility of some great interaction
between the introduced gene and the remainder of the genome.
The consequences of this ignorance fall into succeeding
generations-on innocent children or fetuses.
The Role of
Genes in
Heredity
The heredity information is contained or within the genes,
located in the chromosomes of each cell. An inherited trait can
be determined by one or many genes and a single gene can
influence more than one trait. A human cell contains many
thousands of different genes in the nucleus.
Heredity factors known as genes are thought to exist as
discrete portions (known as loci) of chromosomes. The term
"discrete" refers to the concept that genes are always located
at the same time point or (locus) on a chromosome.
It is believed that pairs of homologous chromosomes
contain linear, matching arrangements of genes
exerting parallel control ever the same traits. Pairs of
genes that exercise such parallel control ever the same
traits are known as alleles, which are of tow kinds:
dominant and recessive.
Genetic characteristics can be extremely complex and may
require the actions of several separate genes to be expressed
in the adult organism. An example of traits that require more
than a single pair of genes to be expressed are human height
and human color. Other traits may be controlled by a single pair
of genes. Some of these traits may have extreme phenotypes,
such as albinism (lack of skin pigment) in humans.
 •down syndrome
•sickle cell disease
Common
Genetic
Disorder
•phenyl ketoneeria (PKU)
•hemophilia
 Effects of
Genes in Our Environment
Genetic traits are determined largely through the
precise information found in the cell's gene
structure. A variety of factors in the environment
can actually alter the effects of a particular gene.
Some examples of this effect are as follows:
1. Effect of light or chlorophyll production- Although
most plants have the generic ability to produce
chlorophyll, they will do this only in the presence of
light. Without light, these plants produce only a light-
yellow pigment and therefore appear pale and sickly
until they are exposed to sunlight. After a few days of
exposure to sunlight, the chlorophyll production
mechanism is enabled and green color returns.
2. Effect of temperature on hair color in the Himalayan hare- in
their native arctic environment, Himalayan hares have white
body hair with black hair on their extremities. However, when
raised in warm climates they are entirely white. On further study
scientists shaved off some hair from then hare's back (normally
white) and strapped an ice pack unto the bare skin. These
experimental condition showed the hare's hair grew back black,
including the role of environmental temperature on the
production of hair color in this species.
Gene Mutations
 Gene mutations may be defined as being any
changes in the nitrogenous base sequence of a
molecule DNA. When the base sequence of DNA
is altered, the amino acid sequence of the
polypeptide for which it codes will likewise be
altered.
 The majority of gene mutations are harmful
because they result in the cell being impaired
from performing some specific task. In rare
cases, a mutation may result in a lethal gene that
kills the cell either by producing a substance toxic
to the cell or by failing to produce a protein of
vital importance to the cell.
• DNA is a polymer made up of a repeating chemical unit
known as the NUCLEOTIDE. Thousands of the units are
known to comprise a single-DNA molecule, making it one of
the largest of all organic compounds.

• DNA exists in hundreds of thousands, if not million , of

different forms, depending ont he precise arrangementnof
nucleotides in the molecule. Its variability is the key to
genetic variation in living things.
DNA nucleotides themselves are quite complex,
being composed of three separate subunits:

• Phosphate group- a chemical group made up

of phosphorus and oxygen
• Deoxyribose- a five-carbon sugar made up of
carbon, oxygen, and hydrogen

• Nitrogenous base- a chemical unit composed

of carbon, oxygen, hydrogen, and nitrogen.
Bases found olin DNA are adenine (A),
thymine (T), cytosine (C), and guanine (G).
DNA CODE
• The chemical and industrial properties of
DNA are the bases for how the genetic
information that underlies heredity is both
encoded in genes (as a string of molecular
bases) and replicated by means of
template.
• A DNA strand provides a template (pattern) for the
information of messenger RNA (mRNA). THE DNA
code is transcribe (read) by mRNA as the latter is
synthesized in a pattern complementary to the DBA
strand. The process but which the DNA code is
transferred to mRNA code is known as transcription. I
EAN molecules, urscil (U) nucleotides are substituted
for DNA's thymine (T).
• Each group of the three nitrogenous bases, known
as a triplet codon, provides the information
necessary to code for the insertion of a single,
specific amino acid into building protein molecule.
The particular sequence of triplet codons on DNA
(and transcribed to mRNS) enables amino acids to
be linked together in a specific sequence during
protein synthesis.
• In conclusion DNA is not merely a
molecule with a pattern, it is a CODE,
a language, and an information
STORAGE.
The Genetic Code
• Heredity is the passage of these instructions from
one generation to another. Discoveries in genetic
science, desxyribonuecleic acid (DNA) was revealed
to be the chemically active agent of the gene. DNA
replicates itself when chromosomes replicate int he
early stages of cell division.
• DNA is passed from generation to generation during
reproduction and acts as genetic factors.

• DNA interacts with the cell's chemical factory and produces

the observable effects of the phenotype when genes are
inherited by a cell or an organism.

• DNA regulates the production of enzymes in the cell and

thereby enables the cell to perform the complex cellular
chemical reactions necessary to sustain life.
• Stem-cell therapy focuses on the use of stem cells to
treat or prevent a disease or condition. Stem cells
are a special read of cells that are capable of
differentiating into more than one kind of tissue. Stem
cells are used for curing various diseases such as
diabetes, arthritis, few cancers, bone marrow failure.
THANK YOU

SO MUCH !