PART ONE: GENETICS COUSELLOR

Dianne and Jack are exploring the possibilities the health of their child. The possibilities of their child to be
affected by Duchenne Muscular Dystrophy (DMD) is their main concern, based on the family members which
are known to be affected by the dystrophy. Considering the information about the health of previous family
members, pedigrees, possible genotypes for past and future members were able to be formed on both the
families of Jack and Dianne.
In a pedigree, males are represented as a square, the females being the circles. The diagonal lines show that
the person is deceased. The genotypes for the corresponding condition are placed beneath the legend.
PEDIGREE: DIANNE

(mM/Mm) (mm)

PEDIGREE: JACK

(mm)

It is more common in males as opposed to females. This is because females inherit two X chromosomes, so if
one parent passes the affected gene, the other X chromosome is able to take the role of the faulty one. A
female as such is known as a carrier which means she is unaffected by DMD. In some cases, a female with one
mutated chromosome can become a manifesting carrier, experiencing a mild level immobility often in the
shoulders and hips. However, DMD is more common in males as they have one of each chromosome, one X
and one Y. If the mother is a carrier, he has a 50% chance of inheriting the disease whereas, females have a
50% chance of being a carrier. This is because if the X chromosome of a male is affected, there is no substitute
for its insufficiency. If the male were to have a daughter with a non-carrier, she would be a carrier but if he had
a son he would be unaffected. Males either have DMD or they do not have any mutated genes at all, being
completely unaffected and unable to pass any DMD mutated genes to their offspring.
Using the information on how the dystrophy is inherited and the pedigrees, educated assumptions are able to
be made on the unknown history of some family members as well as future ones.
Diannes maternal grandmother would have been a carrier, which would have given her son a 50% chance of
inheriting DMD, in which he did. Due to the DMD of Diannes uncle, he would have passed on the affected X
chromosome as she became a carrier and later on passed it on to her son. Since Diannes maternal
grandmother was a carrier it seems that her mother also became so too. As she was a carrier, she passed this
gene on to Diannes brother who inherited DMD. It is then possible that Dianne and her sisters are carriers of
the gene also, they each have a 1 in 2 chance of becoming one. Deriving this information from this previous
pedigree, a new one is able to be made with more information and more possibilities.
POSSIBLE PEDIGREE: DIANNE

(mM/Mm)

(mm)

(mM/Mm)

However, Jacks history is much more complicated as a lot of the history of other family members are
unknown. This means that there are many possibilities and assumptions which can be made however, can
highly unlikely be entirely accurate. Since his father was adopted, there is nothing known about the health of
Jacks paternal grandparents however, his father was not affected by the dystrophy. Jacks maternal
grandfather along with his grandfathers siblings health was also unknown. Since his brother suffers from
DMD, there must have been a mutated gene carried along the generations through carriers. Therefore, it is
possible that his maternal grandmother was a carrier creating the possibility that his mother and aunty were
also, resulting in Jacks brother inheriting DMD. In saying this, it is then possible that his sister and cousin are
carriers also. However, Jack is definitely not affected, leaving him with a genotype of MM. The updated
pedigree shows this.

(mm)

(mM/Mm)

(mm)

If Jack and Dianne were to decide to have a child, then there would be three different possible genotypes.

Jack
XM

Dianne
XM

Xm

XM XM

XMY

XmXM

XmY

The punnett square shows that Jack has a dominant X chromosome, unaffected by DMD. Dianne has a
possibility of being a DMD carrier so has both a dominant and recessive chromosome. There is a 25% chance
that they would have a child completely unaffected, being a girl. This would be homozygous, as it has two of
the same alleles. There is a 25% chance that they would have a boy unaffected by DMD also, being
homozygous too. Therefore, there is a 50% chance that they would have a child completely unaffected by the

dystrophy. However, there is also a 25% chance that they would have a carrier child, with one mutated gene
and normal gene, being heterozygous. They could also have a 1 in 4 possibility for their child to inherit DMD,
being a boy.
Overall, with the consideration of the health of both Jack and Diannes family history, the chances for their
offspring to be completely healthy is significantly higher than a child inheriting DMD.