1. What precautions should be taken when caring for a woman of childbearing age who is
homozygous for the factor V Leiden allele?
2. Case Study: Edgar is 56 years old. His father died of a stroke at age 76. His mother had hypertension and died of a myocardial infarction at age 64. Edgar has three siblings; two have hypertension and are smokers.
One had a stroke at age 54. Edgars uncle Pete died of a stroke at age 64. Edgar does not smoke and has normal blood pressure. He wants to know what his genetic risk is for having a stroke because he has seen a TV special on genetics and is considering having genetic testing.
a. What could you tell Edgar about the genetics of stroke?
b. Would Edgar benefit from genetic counseling?
c. Should Edgars children (ages 36 and 30) have genetic testing?
3. Case Study: Karens brother (Charlie) has a genetic cardiac disorder that puts him at high risk for sudden cardiac death. He has had one episode and is now being treated with medications and an implanted cardioverter defibrillator. This disorder is transmitted in families in an autosomal dominant pattern, and genetic testing is available. Karen and Charlies dad died at age 39 of a single car crash. The family always assumed that it was suicide because he had been depressed, but the family doctor suggested that he may have had a cardiac arrest, just as Charlie did. Karen drives a school bus and has not talked to her brother in 10 years. The last time they saw each other was at their fathers funeral. Charlie is asked to inform his sister of her genetic risk, but he refuses.
a. What is Karens risk of being affected with this disorder?
b. What ethical principles are involved in this case?
c. What would you do if you were Charlies health-care provider?
4. One form of polycystic kidney disease (PKD) has an autosomal dominant transmission pattern. Explain why a 60-year-old man with the disease still has about 25% kidney function remaining but his monozygotic twin daughters had such severe disease that they each had to have a kidney transplant by age 18 (assuming that all three of them had very good care and were very adherent to their medical regimens).
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