Inherited disorders Tuesday, November 7, 2023

Connect the learning

1. Differentiate between a gene and an allele

2. State the rules of drawing a Punnet square

3. Use a punnet square to determine the

percentage chance of having a baby with
blue eyes if the mother has the alleles
homozygous recessive gene for eye colour
and the father has the alleles has
heterozygous gene for eye colour
 Use a Punnett Square to show
Describe the difference between
what happens during a genetic
dominant and recessive alleles.
cross.
Identify expression or
suppression of a character
based upon genotype

Genetic disorders: Cystic fibrosis (CF)

Genetic disorders are often caused by a mutation in a
gene.
As a result, the mutated gene codes for proteins that
either function differently or do not function at all.

Cystic fibrosis is a genetic disorder of cell membranes.

That is the cell membrane in people with CF does not
function properly.
CF is caused by a recessive allele.
What are the implications of CF being caused by a
recessive allele as a opposed to a dominant allele?

Because cystic fibrosis is caused by

a recessive allele, this means:
• People who are heterozygous (Ff) for CF won’t be
affected by the disorder but are carriers of the
disease. the Punnet squares above to show the possible gene combination of the offspring.
Complete
People
• For eachmust
Punnetbesquare,
homozygous recessive
state the (ff) as
probability in a percentage, ratio, fraction and decimal
order
for to have the
the offspring disorder.
having CF.
 Use a Punnett Square to show
Describe the difference between
what happens during a genetic
dominant and recessive alleles.
cross.
Identify expression or
suppression of a character
based upon genotype

Apply learning

You are a doctor.

Two patients have come

into your clinic with chest
problems.

Your job is to diagnose

their illnesses and give
them the correct
diagnosis.

Describe the difference between
dominant and recessive alleles.
Instructions for diagnosis
1. Read the information pages about fibrosis is a strong salty taste to the
cystic fibrosis and bacterial lung skin. Parents of children with cystic
disease. Pay attention to the
symptoms so that you can cross
check these against your
patients. You may want to
highlight important information.
2. Read the patient information
documents. Add notes to the
table regarding temperature,
respiration rate etc.
3. Complete a Punnett square to
determine the chance of the
patient having CF from the
information given.
4. Make your diagnosis.
Use a Punnett Square to show
what happens during aofgenetic
Clinical presentation
cystic fibrosis (CF)
cross. Cystic Fibrosis
One of the first signs of cystic
fibrosis have mentioned tasting this
saltiness when kissing their children.
They may have a persistent cough with
a sticky mucus accompanied by
wheezing or breathlessness. There may
be repeated lung infections.
The patient may have a stuffy
nose/stuffy sinuses.
The patient may have foul-smelling,
greasy stools or may have an intestinal
blockage, particularly in newborns
(meconium ileus), or severe
constipation.
Identify expression or
suppression
of ainfection
and bacterial lung character
based upon genotype
Bacterial Lung Infection
The patient may have a sudden onset
of chills severe enough to make them
shake. There may be a cough with thick
yellow, green, or blood-tinged mucus
and this may be accompanied by chest
pains.
Fever of 102-105°F or above (fever
lower than 102°F in older persons), the
patient may be sweating.
The patient may have rapid breathing
and/or breathlessness along with
moist, pale skin.
The patient may feel tired and have a
loss of appetite.
 Use a Punnett Square to show Identify expression or
Describe the difference between
what happens during a genetic suppression of a character
dominant and recessive alleles.
cross. based upon genotype

Apply learning
Check Normal Patient’s Dr’s notes
Range/value Presentation
Temperature 36-38oC 36.9
Breathing Rate 30 – 60 breaths 48 bpm
per minute
Sweat Salt ≤29mmol/L 62mmol/L
concentration
Weight 3.4 – 5.7 kg 3.4 kg
Patient Case Study
Age – 3 weeks old
Gender – Male
Symptoms – Patient has displayed a severe cough since birth and is producing a sticky mucus. There is wheezing
and crackling when breathing which is audible.
The parents have stated that there is no decrease in appetite.
The father and mother are both carriers for the CF gene.
 Use a Punnett Square to show
Describe the difference between
what happens during a genetic
dominant and recessive alleles.
cross.
Identify expression or
suppression of a character
based upon genotype

Apply learning
Check Normal Patient’s Dr’s notes
Range/value Presentation
Temperature 36 – 38 oC 38.9
Breathing Rate 20-30 breaths 40 bpm
per minute
Sweat Salt ≤40mmol/L 25mmol/L
concentration
Weight 145-157lbs 186lbs

Age 36
Clinical symptoms
Patient has had a cough for a week and has been producing a thick, sticky, green mucus. Upon coughing, there has
been a sharp stabbing chest pain. Fever is present and patient is complaining of a severe headache.
Parent genetic information. Mother is homozygous dominant and does not carry the CF gene. The father is
heterozygous and is a carrier of the CF gene.
 Use a Punnett Square to show
Describe the difference between
what happens during a genetic
dominant and recessive alleles.
cross.
Identify expression or
suppression of a character
based upon genotype

Apply learning

Write a letter to give

information to your
patients that are
suffering from cystic
fibrosis.

Use the success criteria

and the text books
(Activate 3 – pages 6 & 7)
to help you compose
you letter.
 Use a Punnett Square to show Identify expression or
Describe the difference between
what happens during a genetic suppression of a character
dominant and recessive alleles.

Have you met the LI?

cross. based upon genotype

Describe the difference between dominant

and recessive alleles.
If you didn’t meet (or you
are not confident) about
your learning outcomes
Use a Punnett Square to show what happens what are your next steps?
during a genetic cross. How will you secure your
learning.

Make a learning promise.

Identify expression or suppression of a

character based upon genotype