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?
Ch. 3 - Cell Division and Chromosome Heredity
Chapter 3, Problem 1
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?

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Identify the genotype of the parents. Since both parents are heterozygous carriers, their genotype is Aa, where 'A' is the normal allele and 'a' is the mutant allele.
Set up a Punnett square to determine the possible genotypes of their offspring. Place one parent's alleles (A and a) on the top and the other parent's alleles (A and a) on the side.
Fill in the Punnett square by combining the alleles from each parent. This will result in four possible combinations: AA, Aa, Aa, and aa.
Determine the genotype of interest. In this case, we are interested in the homozygous recessive genotype, which is 'aa'.
Calculate the probability of the child being homozygous recessive by counting the number of 'aa' combinations in the Punnett square and dividing by the total number of combinations.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Autosomal Recessive Inheritance
Autosomal recessive inheritance occurs when a trait or condition is expressed only when an individual has two copies of a mutant allele, one inherited from each parent. In the case of conditions like Phenylketonuria (PKU), both parents must be carriers (heterozygous) for their child to potentially inherit the homozygous recessive genotype, which leads to the expression of the disorder.
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Autosomal Pedigrees
Punnett Square
A Punnett square is a diagram used to predict the genetic makeup of offspring from two parents. By arranging the alleles of each parent, it allows for the visualization of possible genotypes in their children. For two heterozygous parents (Aa x Aa), the Punnett square reveals the probabilities of offspring being homozygous dominant, heterozygous, or homozygous recessive.
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Chi Square Analysis
Genotype Probability
Genotype probability refers to the likelihood of an offspring inheriting a specific combination of alleles from its parents. In the case of two heterozygous parents, the probability of their child being homozygous recessive (aa) is 25%, as derived from the Punnett square analysis. Understanding these probabilities is crucial for predicting the inheritance of genetic conditions.
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Probability
Related Practice
Textbook Question
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Textbook Question
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?
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Textbook Question
Examine the following diagrams of cells from an organism with diploid number 2n=6, and identify what stage of M phase is represented.
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