Genetics Worksheet

ANAMHALDA 202: Altered Physiology
Genetics worksheet:
1. Describe DNA including its structure and component parts (2 marks)

Two strands in a double-helix formation. Each strand contains nucleotide components. There are 4 bases;
Adenosine, Cytosine, Guanine, Thymine (ACGT). The two strands of the double helix connect by the
pairing of the blocks – A-T and C-G
2. What does DNA do? (5 marks)
DNA contains instructions for the production of essential proteins that are fundamental to the correct
functioning, development and reproduction of life. DNA sequences direct specific amino acids that are
required to convert into the protein required for the task.
DNA strands form chromosomes, 23 from each parent during foetal development.
3. Explain the terms dominant and recessive gene (4 marks)
A recessive gene is one that can be masked by a dominant gene, and neither parent could have the
genetic trait (skipped generations e.g.) A dominant gene is one that is visibly expressed within a person,
even if only one parent carries the gene.
4. Describe the three ways in which an individual may have a genetic mutation and link each one
with a relevant disease or condition caused by this type of mutation (6 marks)
1. Inherited – sickle cell anaemia.
2. Defected DNA replication – cancer.
3. Induced – environmental factors – Thalidomide (phocomelia as example)
5. What does a pedigree chart do? (3 marks)

Tracks and predicts familial disorders to establish the probability of a person inheriting the condition or
disorder.
6. Chose one of the following ethical considerations associated with genetic testing and discuss the
relevant issues as well as consider how we as nurses could support the patient/family to make
the right decision for them: (10 marks)
a. The risk of false positives –

Various concerns surround the risks of a false positive in terms of genetic testing, and
the resulting action taken from that positive result. For example, if a mucosal swab is
taken for DNA testing, eating, drinking or smoking before the swab could interfere with
the reporting. Human error is also a potential risk factor when considering genetic
testing. If a person was to receive a positive result for BRCA 1 or 2 gene, they could
feasibly go on to have a double mastectomy as well as a bilateral oopherectomy to
reduce their probability of developing breast cancer or ovarian cancer before they’re
aged 70. If this was done on a false positive result, the patient would have undergone 2
major surgeries, exposing themselves to the known complications and risks of any
surgical procedure. Psychological implications are also relevant; bilateral or unilateral
mastectomies can have massive impacts on a person psychologically.
In terms of supporting the patient, the nurse could have open conversations with the
patient and their family to discuss their options, to ensure it is an informed decision. By
explaining the intending benefits along with the potential risks of every option, the
nurse can help the patient feel empowered in their decision and gain an element of
control to their current situation.
7. What does the term pharmacogenomics mean? (include an example in your answer) (3 marks)
The study of genetic influences on drug responses. A person with grade 4 Breast Cancer may be given
Capecitabine oral chemotherapy drugs, but genetic influences of that person requires the dose to be
titrated down to manage the side effect profile of the SACT.
8. Chose one of the following genetic conditions and describe the mutation, the initial presentation
of the disease, its signs and symptoms, treatment options and their side effects and the
prognosis of a patient diagnosed with that condition (20 marks)
a. Huntington’s disease
A neurodegenerative disease, Huntington’s disease usually manifests in mid life although it can develop
earlier than this. It is a rare, inherited disease that causes the progressive destruction of nerve cells within
the brain. It is understood that a faulty HTT gene is responsible for causing this disease.
Symptoms of Huntington’s disease can include:
 Memory lapses
 Depression
 Involuntary jerking / fidgety movements of the limbs and or body
 Dysphagia
 Dysphasia
 Breathing difficulties
There is no cure currently for Huntington’s and death occurs from around 10 years up to 20 years from
diagnosis. The first symptom of Huntington’s is thought to be difficulty concentrating, depression and
memory lapses. There are various treatments that can be implemented which can include medications
for depression and involuntary movements. Occupational therapy can also be provided to assist the
person with activities of daily living. The person could also have a speech and language therapy
assessment to assist with the dysphagia and dysphasia.

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ANAMHALDA 202: Altered Physiology

1. Describe DNA including its structure and component parts (2 marks)

5. What does a pedigree chart do? (3 marks)

a. The risk of false positives –

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