Phenylketonuria-etiology and genetics


Phenylketonuria (PKU) is a disease found in the humans in which the influenced individual doesn’t have the enzyme phenylalanine hydroxylase. This enzyme is required to metabolize the amino acid phenylalanine to the tyrosine. Whenever left untreated the phenylalanine will be converted to phenylketone and accumulates in the body leading to the brain development disorders, mental retardation and seizures. Assume that two normal adults have one child who has the trait and a second child who is normal.

Q1. Is PKU inherited as the dominant or recessive trait?

Q2. Describe how you came to this conclusion.

Q3. Describe the genotypes of the each of the parents?

Q4. Describe the genotype of the child with the PKU?

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Biology: Phenylketonuria-etiology and genetics
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