Genetics case study on DMD PDF

Running head: GENETICS CASE STUDY ON DMD 1
Genetics case study on DMD
Name of the Student
Name of the University
Author Note

GENETICS CASE STUDY ON DMD 2
Genetics case study on DMD
Answer for the activity 1:
Figure 1: Pedigree drawing of Nancy and Tom’s Family
In this pedigree drawing (Figure 1), going back two generation from proband is not
possible because of inadequate data as no further information was not provided by Nancy and
Tom.
Very little information is provided by Nancy and Tom for this pedigree chart. Little to no
information is provided about Nancy’s family side. No name, age or family complications
(related to disease) were mentioned to the doctor of nursing practice. Hence, above mentioned
information is needed to make this pedigree chart more informative.

GENETICS CASE STUDY ON DMD 3
Answer for the activity 2:
I will provide the following gene related information to the couple:
DMD is an X-linked inherited disease (McDonald et al., 2017).
It can be passed down from generation to generation without affecting anybody.
Being an X-linked inheriting disease there is a 50 per cent chance that their daughter is a
carrier (Nussbaum, McInnes & Willard, 2015).
Nancy is a carrier of DMD, so they should consider this information before consider to
have another baby (Nampoothiri et al., 2016).
Answer for the activity 3:
I would counsel them about genetic reason behind their child’s disease and the inheriting
nature of the disease. As a result, their daughter might be a carrier of DMD and consequently,
Nancy herself is a carrier. Subsequently, I would suggest them to be tested to confirm their
carrier status (Genetic Counselors, 2018). If they are carrier of DMD, there is a 50 per cent
probability that they will pass the gene to their offspring and if the child is a boy, then there is a
50 per cent probability that the boy will be affected by the DMD (Nussbaum, McInnes &
Willard, 2015).
Answer for the question number 1:
The incidence for Duchenne muscular dystrophy (DMD) in USA is about 1 out of 3500
male ("Duchenne Muscular Dystrophy - NORD", 2018).
DMD occurred due to the mutation in dystrophin gene and because of this DMD patients
lacks the dystrophin protein. Dystrophin plays a vital role in muscle structure. Dystrophin binds
to the dystrophin-associated protein complex (DAPC). This DAPC became destabilized in the