Decisions about reproduction in face of potential genetic

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Explore the role of genetic counselors in guiding people with their decisions about reproduction in the face of potential genetic disorders in their children.

You will provide your knowledge, experience and perspectives in solving the following scenarios:

1. Cystic Fibrosis: Suppose a couple has come to see you to discuss the probability of their children having cystic fibrosis (CF). CF is known to be an autosomal recessive disease caused by a single gene mutation that has pleiotropic effects including thick mucus in the lungs and excessively salty sweat. After discussions with the couple, you learn that they both have a history of the disease in their families. Both the man and his wife are phenotypically normal, but both have one parent and one sibling with CF. The other parent in each case is phenotypically normal. Explain to the couple the probability of their children having CF or being carriers for the CF gene. Explain to them why their children can have the disease even though neither of them have the disease. Draw a Punnett square to help illustrate your points

2. Color Blindness with a Twist: As a genetic counselor, you may face some ethical dilemmas. Imagine that a couple came to your office to discuss potential color blindness in their children. The man is not color blind, but his wife is. They already have one daughter that is color blind and want to know the probability of future children having the disorder. First, you will need to explain to the couple the difference between sex chromosomes and autosomal chromosomes and that color blindness is caused by a recessive mutation in a gene found on the X chromosome. Once they understand this, you can then explain to them the probability of other offspring having the disorder. What is the dilemma in this case and why might you need to suggest to the couple that they see a marriage counselor?

Reference no: EM132934628

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