Supervised by/

Prof.Dr.sohier wehida
Prepared by /
Hanady Abd Elkader
OUTLINES
• Historical Definition of a Gene
• Gene
• Genome
• Genetics
• Genetic transmission
• Genetics code
• Genetic mutation
• Gene therapy
• Gene therapy mechanisms
Historical Definition of a Gene

Gene the observable characteristics of an organism are referred

to collectively as its phenotype. Humans have known for
thousands of years that organisms within species – cattle, grain
crops, dogs, date palms, horses and, of course, humans – di ffer
from one another phenotypically and that phenotypic variations
are, to a large extent, heritable. Long before the mechanisms of
heredity were understood in any depth, humans were selectively
breeding plants and domestic animals to enhance desirable
qualities and to eliminate undesirable ones.
Early theories of heredity proposed that offspring were a
concoction of fluids derived from one or both parents and
that inherited characteristics were somehow determined by
the properties of these fluids. Biologists up to the time of
Charles Darwin, including Darwin himself, believed that
inherited characteristics were literally dissolved like sugar
in water.
This notion led to a difficult problem: Characteristics
conveyed from one generation to the next in the formof
liquids would become more and more dilute with the
passage of time. How could natural selection produce
evolutionary change if favourable variations in
phenotype were as evanescent as a drop of juice
Genesas‘particles

Modern genetics began with the realization that

the gene is not a fluid, but a ‘particle’, which can
maintain its integrity over many generations.
Thus, favourable variants of a given gene can
become more numerous in a population as the
forces of natural selection work over time
A gene is a fundamental physical and functional
unit of heredity and control hereditary disorders
and all physical traits such as hair, skin, and eye
color.
Genomics is the study of the structure and
function of the genome, including the interaction
between genes and between genes and the
environment.
• Genetics is the study of how genes are transferred
from parents to their children and the role of genes
in health and disease.
Genetic transmission

Each newly formed individual receives two genes of

each genetic trait: one from the father and one from
the mother.
When a dominant gene is inherited from either parent,
the offspring will inherit that genetic condition or
characteristic. For example, freckles are a physical trait
that is transmitted by a dominant gene. So, too, is the
hereditary disorder Huntington’s disease.
When the same recessive gene is inherited from
both parents, the offspring will have that
condition.
For example, sickle cell anemia is a group of
inherited red blood cell disorders that are
transmitted by a recessive gene. When this gene
is transmitted by both parents, the child will have
sickle cell anemia.
When a recessive gene is inherited from only one
parent, and a normal gene is inherited from the
other
parent, the offspring will not have the condition.
Although this child will not develop sickle cell
anemia, he or she will have the sickle cell anemia
trait. People with this trait can transmit the sickle cell
gene to their offspring.
The Genetic Code

Genes are composed of DNA (or, in the case of

some viruses, RNA). DNA is a polymeric
molecule made up of small subunits – monomers
– strung together to make very long linear chains
genetic mutations
A genetic mutation is a change in a sequence of
DNA.
DNA sequence gives cells the information they
need to perform their functions. If part of DNA
sequence is in the wrong place, isn’t complete or
is damaged.
 Causes a Gene Mutation

A gene can mutate because of:

• a change in one or more nucleotides of DNA
• a change in many genes
• loss of one or more genes
• rearrangement of genes or whole chromosomes
Do Parents Pass Gene Mutations to
Children?

• If a parent carries a gene mutation in their egg or sperm, it can pass

to their child. These hereditary (or inherited) mutations are in almost
every cell of the person's body throughout their life. Hereditary
mutations include cystic fibrosis, hemophilia, and sickle cell disease.
• Other mutations can happen on their own during a person's life.
These are called sporadic, spontaneous, or new mutations. They
affect only some cells. Damage from the sun's ultraviolet radiation or
exposure to some types of chemicals can lead to new mutations.
These mutations are not passed from parents to their children.
 Gene therapy
a medical approach that treats or prevents disease by correcting the
underlying genetic problem. Gene therapy techniques allow doctors to
treat a disorder by altering a person’s genetic makeup instead of using
drugs or surgery.
The earliest method of gene therapy, often called gene transfer or gene
addition, was developed to:
Introduce a new gene into cells to help fight a disease.
Introduce a non-faulty copy of a gene to stand in for the altered copy
causing disease.
Gene therapies mechanisms
It can work by several mechanisms:
• Replacing a disease-causing gene with a healthy copy of the
gene
• Inactivating a disease-causing gene that is not functioning
properly
• Introducing a new or modified gene into the body to help treat a
disease