29 Jul HOW CAN POSSESSING A MUTATION IN BOTH ALLELS OF THE CFTR GENE CAUSE DISEASE?
Both members of a couple come from families with a history of a severe disease (I.e. affected children do not live beyond a year or two after birth) caused by an autosomal recessive mutation. The disease appears in all people homozygous for the mutation and is present from birth on. People heterozygous for the mutation have, as they get older and to varying degrees, a higher risk for specific health problems that require medical care. The couple is deciding whether, before having children, they should be genetically tested for the mutation. List the pros and cons of their of their being genetically tested. Consider the question from all perspectives (ex: with respect to privacy, medical care, emotional effects and ethical implications.
How can possessing a mutation in both allels of the CFTR gene cause disease?
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