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Genetic Diseases
L.O: To understand how some genetic
diseases can be inherited
Starter: list as many inherited diseases that you can think of
In groups of 4 then split into two pairs
Each pair need to create an information leaflet (1
A4 side only) cystic fibrosis and polydactyly. You
will also need to create a 5 question quiz.
In the leaflet include:
- How it is inherited, a genetic diagram e.g. punnet
square would be good (include alleles of parents)
- What the symptoms are and organs affected
- What the treatments are
- What embryo screening is
What is an inherited disease?
A change in a single gene can cause
problems:
A mutation in just one gene can
change a characteristic. Sometimes
this change has a harmful effect on
the body and can lead to disease.
This type of condition is called
an inherited disease.
Examples of inherited diseases
What is cystic fibrosis?
- An inherited disease that
affects many body organs,
(mainly lungs and digestive
system).
- In a person with cystic fibrosis the
mucus in air passages (which trap
and remove bacteria) is thicker than
normal.
The effects of cystic fibrosis
•breathing difficulties
•Risk of repeated chest
infections which can lead to
lung damage.
TREATMENT:
•Need daily physiotherapy
•Antibiotics help to treat and
control lung infections
Other treatment of cystic fibrosis?
•Special inhalants
•In severe cases, a lung transplant
•Most take enzyme pills when they
eat to supply missing enzymes and
allow digestion.
There is no cure but embryos can
be screened.
Living with cystic fibrosis
Over 7,500 people in the UK are
affected by cystic fibrosis.
The quality of life for people with
cystic fibrosis is much better than
in earlier times, due to improved
treatment and understanding of
this inherited disease.
Children born with cystic fibrosis
do not have a normal life
expectancy, although this is
improving all the time.
How is cystic fibrosis inherited?
Cystic fibrosis is caused by a recessive allele.
c =
C =
cystic fibrosis allele
normal allele
disease
allele
disease
allele
c c
A person with cystic fibrosis has the genotype cc.
They have inherited a cystic fibrosis gene from both parents.
C c
How is cystic fibrosis inherited?
A heterozygous person (Cc) is called a carrier. They do
not have the disease but they do carry the cystic fibrosis
allele which they might pass on to their children.
In the UK, 2.3 million people carry the cystic fibrosis gene.
If both parents are carriers of the faulty gene, what is the
chance that their children will have cystic fibrosis, the
chance of their children being carriers and the chance of
them having the disease? Use a genetic cross to work it
out.
Cystic fibrosis inheritance activity
Cystic fibrosis inheritance activity
Cystic Fibrosis
Cystic fibrosis is a RECESSIVE
genetic disease affecting the cell
membranes especially in the lungs
and pancreas
Sufferers have problems with creating
too much mucus in their lungs and
also with digestion
Treatments – enzyme tablets with
each meal and physiotherapy to
remove mucus
As the disease is recessive BOTH
parents must carry the gene for the
child
to be a sufferer
23/05/2017