QUESTION 8:  Overview of Genetics

QUESTION 8:  Overview of Genetics

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QUESTION 8:  Overview of Genetics and Genomics in Nursing

Mr. Wayne is a 38-year-old man with a significant family history of elevated cholesterol levels. His father died at age 42 from a massive heart attack secondary to elevated cholesterol and triglycerides, and two of his older siblings are currently taking medications to lower their cholesterol levels. Mr. Wayne makes an appointment to discuss his risk for hypercholesterolemia. The nurse recognizes that Mr. Wayne is at risk for familial hypercholesterolemia because this is an autosomal dominant inherited condition. (Learning Objective 2)

a. Describe the pattern of autosomal dominant inheritance.

b. Mr. Wayne asks what chance his children have of developing familial hypercholesterolemia. How should the nurse respond?

c. Explain the phenomenon of penetrance observed in autosomal dominant inheritance.

QUESTION 9: Chapter 9, Chronic Illness and Disability

Mr. Edwards is 20-year-old male patient who is admitted for treatment of recurring pyelonephritis (kidney infection) and surgical treatment of a urinary stricture, which has decreased the urinary stream. Mr. Edwards has paraplegia; he is paralyzed from the waist down secondary to an automobile accident when he was 16. He came by ambulance to the hospital, leaving his wheelchair and wheelchair pressure-relieving cushion at home. According to the nursing history, the patient is a nonsmoker and he does not drink alcohol or take any illegal drugs. (Learning Objective 5)

a. What nursing considerations should be made for Mr. Edwards related to his disability?

b. What health promotion and prevention education does Mr. Edwards need?

Most genes come in pairs and are made of strands of genetic material called deoxyribonucleic acid, or DNA. Genetic disorders are caused by one or more changes, or mutations, in the instruction code of a particular gene(s), preventing the gene(s) from functioning properly.

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