Part One:

1. What this diagram shows, are the organs in our

bodies that would be the most affected by cystic
fibrosis.

Cystic fibrosis causes the production of mucus that

can build up in these organs, which results in cough,
and shortness of breath.
 2. Cystic fibrosis (CF) is a genetic disorder caused by mutations in a gene called cystic fibrosis
transmembrane conductance regulator, or CFTR for short. Exactly what CFTR is, is a protein that
regulates the movement of salt and water in and out of our cells in the various organs, including
the lungs, pancreas, and digestive system. At the level of a single cell, CFTR is located on the cell
membrane, where it acts as a channel to transport chloride out of the cell. Chloride ions are
important for maintaining the balance of salt and water in and around the cell. In individuals with
CF, mutations in the CFTR gene result in the production of a CFTR protein that doesn’t do its
job. This protein may be unable to reach the cell membrane, be produced in insufficient amounts,
or just not function properly. When CFTR can’t do its job and transport those chloride ions out of
the cell, there is a buildup of chloride ions inside the cell, which in turn leads to an imbalance of
salt and water. In the lungs, this can result in the production of mucus that is difficult to clear,
which can lead to being more susceptible to infections, and inflammation, and can cause damage
to lung tissue.
In the pancreas, the buildup of mucus can block the ducts that transport digestive enzymes, -leading to
malabsorption and malnutrition. At the cellular level, the dysfunction of CFTR in CF can also lead to
changes in other ion channels and transporters in the cell, as the cell tries to compensate for the chloride
imbalance. These changes can further disrupt the
balance of salt and water and contribute to the
symptoms of CF.

3.
 We have four different situations here, one that you are The limitations to these pedigrees, are that we are
unsure whether you, Sarah, or, Micheal are carriers of the recessive CF gene, or if you are unaffected.
Therefore we can’t be certain yet if you will even pass this gene down to your children. What we need to
find out first, is if you have the recessive gene.

We have four different situations here, one being that you are both unaffected by CF, so,
therefore, have neither of the recessive genes. One that you are both carriers of the recessive gene, and
one that only Sarah is a carrier and vice-versa. The limitations to these pedigrees, are that we are unsure
whether you, Sarah, or, Micheal are carriers of the recessive CF gene, or if you are unaffected. Therefore
we can’t be certain yet if you will even pass this gene down to your children. What we need to find out
first, is if you have the recessive gene.

4.
Inheritance outcomes of cystic fibrosis are determined by the inheritance pattern of the gene
mutations that cause the disease, and they are not affected by the gender of the affected individuals.
Cystic fibrosis is an autosomal recessive disorder, autosomal meaning that the mutation of the gene takes
place on our non-sex chromosomes and recessive means that an individual needs to inherit two copies of
the mutated gene, one from each parent, to develop the disease.
 Therefore, if Sarah and Michael switched families, the inheritance outcomes for cystic fibrosis
would depend on the carrier status of their biological parents. If Sarah and Michael's biological parents
were carriers of the CF gene mutation, the younger sibling in either family would have a 25% chance of
inheriting two copies of the mutated gene and therefore developing cystic fibrosis, regardless of their
gender. Biological gender does not influence the inheritance pattern of cystic fibrosis or any other
autosomal recessive disorder. However, some genetic conditions can be influenced by sex chromosomes.
These conditions are called sex-linked. For example, X-linked recessive disorders are caused by
mutations on the X chromosome and are more common in males because they only inherit one X
chromosome from their mother. Females have two X chromosomes, so they have a higher chance of
inheriting one healthy X chromosome to compensate for a mutated one. The type of inheritance pattern
seen in cystic fibrosis and other autosomal recessive disorders is called autosomal recessive inheritance.
In this inheritance pattern, both copies of the gene must be mutated to cause the disease, and carriers of
one copy of the gene do not develop the disease but can pass the mutation on to their offspring.

Part Two:

5. Here is a Punnett square, which is a really helpful tool that we use in genetics to determine the possible
outcomes of inheritance, based on the parent’s genes. To help you understand how this works, let's go
over how they are made together:

To create a Punnett square for cystic fibrosis, you would first identify the possible genotypes of each
parent. Let's use the letters “C" and "c" to represent the two alleles (versions of the gene) for cystic
fibrosis. Since the disease is autosomal recessive, a person must have two copies of the mutated allele
("cc") to have cystic fibrosis. Someone with one mutated allele and one normal allele ("Cc") is a carrier of
the disease but does not have symptoms. Let's say one parent is a carrier (Cc) and the other parent has
cystic fibrosis (cc). To create the Punnett square, you would write the possible gametes (sperm or egg
cells) for each parent along the top and side of the square:

Like this:
|C |c
--|-----|----
C|
--|-----|----
c|

Then, you would fill in the boxes in the square with the possible combinations of alleles (mutations) from
each parent's genes:

Like this

|C |c
--|-----|----
C | CC | Cc
--|-----|----
c | Cc | cc

Each box represents a possible offspring genotype.

.
6.
Here is a Punnett square that portrays the possible genotypes if Sarah is a carrier of the recessive gene.

To determine the probability of each genotype, you would count the number of boxes with each genotype
and divide by the total number of boxes (which is always 4). In this example, there is one possible
genotype (Cc) which is a carrier. The Punnett square in this example we are discussing shows that there is
a 50% chance that the offspring will be a carrier (Cc), a 25% chance that the offspring will have cystic
fibrosis (cc) and a 25% chance that the offspring will be unaffected (CC).

7.
In Part 1 of this scenario, we used a pedigree to analyze the inheritance of a genetic condition in your
family Sarah, and Michael's family. In that context, we saw that the pattern of inheritance was consistent
with an autosomal recessive trait, which means that an affected individual inherits two copies of the
mutated gene (one from each parent). Now, let's consider the Punnett square for the same genetic
condition, but with the medical situation switched between Sarah and Michael. Specifically, Sarah is now
in Michael's position with the affected younger brother and family, and Michael is in Sarah's position
with the affected younger sister and family. To do this, we need to revise the Punnett square to reflect the
new parents' genotypes. Assuming that Sarah and Michael are carriers of the recessive allele (Cc), the
Punnett square for the new scenario would look like this:

In this case, we can see that the possible genotypes are the same as in the previous Punnett square. If
Sarah is a carrier of the recessive allele (Cc), then she has a 50% chance of passing either the C or c allele
to her offspring. If her husband is also a carrier (Cc), then their child has a 25% chance of inheriting two
copies of the recessive allele (cc) and being affected by the condition. Similarly, if Michael is a carrier of
the recessive allele (Cc), then he also has a 50% chance of passing either the C or c allele to his offspring.
If his wife is also a carrier (Cc), then their child has a 25% chance of inheriting two copies of the
recessive allele (cc) and being affected by the condition. Therefore, the Punnett square outcomes would
be the same regardless of which parent is in Sarah or Michael's position, as long as both of you are
carriers of the recessive allele. The likelihood of each genotype is determined by the probability of the
different genes produced by each parent and is not at all affected by the gender or position of the parents.
As explained earlier, CF is an autosomal condition (meaning not sex-linked) which means that it is
inherited through alleles on our non-sex chromosomes, therefore gender makes no difference to
inheritance.