Answer the following questions for autosomal conditions such as PKU.
If both parents are heterozygous carriers of a mutant allele, what is the chance that their first child will be homozygous recessive for the mutation?
Answer the following questions for autosomal conditions such as PKU.
Parents who are each heterozygous carriers for a recessive mutant allele have a child who does not have the condition. What is the chance this child is a heterozygous carrier of the condition?


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Key Concepts
Autosomal Recessive Inheritance
Punnett Square
Carrier Probability
Answer the following questions for autosomal conditions such as PKU.
If the first child of parents who are both heterozygous carriers of a recessive mutant allele is homozygous recessive, what is the chance the second child of the couple will be homozygous recessive? What is the chance the second child will be a heterozygous carrier of the recessive mutation?
Examine the following diagrams of cells from an organism with diploid number 2n=6, and identify what stage of M phase is represented.
Homocystinuria is a rare autosomal recessive condition on the RUSP list of conditions screened by newborn genetic testing. The condition results from a mutation that blocks the degradation of the amino acid methionine. The absence of a critical enzyme causes the buildup of the compound homocysteine, which is one of the intermediate compounds in the methionine breakdown pathway. Homocystinuria causes mental impairment, heart problems, seizures, eye abnormalities, and a number of other symptoms that shorten life if not treated. The condition is treated by a specialized diet that is low in methionine and by the ingestion of several supplements.
Why do you think eating a low-methionine diet is critical to controlling homocystinuria?