Alkaptonuria is a rare metabolic disorder caused by an autosomal recessive allel

Question

Alkaptonuria is a rare metabolic disorder caused by an autosomal recessive allele, a. A woman whose brother is affected with this disorder marries a man whose maternal grandmother (deceased) also had alkaptonuria. What is the probability that this couple will have a child affected with alkaptonuria? Alkaptonuria is a rare metabolic disorder caused by an autosomal recessive allele, a. A woman whose brother is affected with this disorder marries a man whose maternal grandmother (deceased) also had alkaptonuria. What is the probability that this couple will have a child affected with alkaptonuria?

Explanation / Answer

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25 percent with each pregnancy. The risk to have a child who is a carrier like the parents is 50 percent with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25 percent. The risk is the same for males and females.

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