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Ch. 2 - Transmission Genetics
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 2, Problem 40e

Alkaptonuria is an infrequent autosomal recessive condition. It is first noticed in newborns when the urine in their diapers turns black upon exposure to air. The condition is caused by the defective transport of the amino acid phenylalanine through the intestinal walls during digestion. About 4 people per 1000 are carriers of alkaptonuria.
Sara and James had never heard of alkaptonuria and were shocked to discover that their first child had the condition. Sara's sister Mary and her husband, Frank, are planning to have a family and are concerned about the possibility of alkaptonuria in one of their children.
The four adults (Sara, James, Mary, and Frank) seek information from a neighbor who is a retired physician. After discussing their family histories, the neighbor says, 'I never took genetics, but I know from my many years in practice that Sara and James are both carriers of this recessive condition. Since their first child had the condition, there is a very low chance that the next child will also have it, because the odds of having two children with a recessive condition are very low. Mary and Frank have no chance of having a child with alkaptonuria because Frank has no family history of the condition.' The two couples each have babies and both babies have alkaptonuria.


The couples are worried that one of their grandchildren will inherit alkaptonuria. How would you assess the risk that one of the offspring of a child with alkaptonuria will inherit the condition?

Verified step by step guidance
1
Step 1: Understand the inheritance pattern of alkaptonuria. It is an autosomal recessive condition, meaning that an individual must inherit two copies of the defective allele (one from each parent) to express the condition. Carriers have one defective allele and one normal allele, and they do not exhibit symptoms.
Step 2: Analyze the genetic makeup of individuals with alkaptonuria. Since the condition is autosomal recessive, individuals with alkaptonuria must have two defective alleles (homozygous recessive: a2). Their offspring will inherit one defective allele from them.
Step 3: Consider the genetic makeup of the other parent. If the other parent is a carrier (heterozygous: Aa), there is a 50% chance the offspring will inherit the defective allele from the carrier parent and a 100% chance of inheriting the defective allele from the affected parent. This results in a 50% chance of the offspring being affected and a 50% chance of being a carrier.
Step 4: If the other parent is not a carrier (homozygous dominant: A2), the offspring will inherit one defective allele from the affected parent and one normal allele from the non-carrier parent. In this case, all offspring will be carriers but none will be affected.
Step 5: Assess the risk for grandchildren. If the offspring of the affected individual is a carrier, their children will inherit one allele from the carrier parent and one allele from the other parent. The risk of alkaptonuria in grandchildren depends on whether the other parent is a carrier or not. Use a Punnett square to calculate probabilities for specific scenarios.

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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 the recessive allele, one inherited from each parent. In the case of alkaptonuria, both parents must be carriers of the defective gene for their child to express the condition. This means that even if a child inherits one normal allele, they will not show symptoms unless they inherit the recessive allele from both parents.
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Carrier Status

A carrier is an individual who possesses one copy of a recessive allele for a genetic condition but does not exhibit symptoms of the condition themselves. In the context of alkaptonuria, both Sara and James are carriers, which means they can pass the recessive allele to their children. Understanding carrier status is crucial for assessing the risk of passing on genetic conditions, especially in families with a history of such disorders.
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Punnett Square

A Punnett square is a graphical tool used to predict the genotypes of offspring from a genetic cross. It helps visualize the probability of inheriting specific alleles from the parents. For alkaptonuria, a Punnett square can be used to determine the likelihood of their children inheriting the condition based on the parents' carrier status, providing a clear understanding of the genetic risks involved.
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Textbook Question

Alkaptonuria is an infrequent autosomal recessive condition. It is first noticed in newborns when the urine in their diapers turns black upon exposure to air. The condition is caused by the defective transport of the amino acid phenylalanine through the intestinal walls during digestion. About 4 people per 1000 are carriers of alkaptonuria.

Sara and James had never heard of alkaptonuria and were shocked to discover that their first child had the condition. Sara's sister Mary and her husband, Frank, are planning to have a family and are concerned about the possibility of alkaptonuria in one of their children.

The four adults (Sara, James, Mary, and Frank) seek information from a neighbor who is a retired physician. After discussing their family histories, the neighbor says, 'I never took genetics, but I know from my many years in practice that Sara and James are both carriers of this recessive condition. Since their first child had the condition, there is a very low chance that the next child will also have it, because the odds of having two children with a recessive condition are very low. Mary and Frank have no chance of having a child with alkaptonuria because Frank has no family history of the condition.' The two couples each have babies and both babies have alkaptonuria.


What was incorrect about the information given to Sara and James? What is incorrect about the information given to Mary and Frank?

541
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Textbook Question

Alkaptonuria is an infrequent autosomal recessive condition. It is first noticed in newborns when the urine in their diapers turns black upon exposure to air. The condition is caused by the defective transport of the amino acid phenylalanine through the intestinal walls during digestion. About 4 people per 1000 are carriers of alkaptonuria.

Sara and James had never heard of alkaptonuria and were shocked to discover that their first child had the condition. Sara's sister Mary and her husband, Frank, are planning to have a family and are concerned about the possibility of alkaptonuria in one of their children.

The four adults (Sara, James, Mary, and Frank) seek information from a neighbor who is a retired physician. After discussing their family histories, the neighbor says, 'I never took genetics, but I know from my many years in practice that Sara and James are both carriers of this recessive condition. Since their first child had the condition, there is a very low chance that the next child will also have it, because the odds of having two children with a recessive condition are very low. Mary and Frank have no chance of having a child with alkaptonuria because Frank has no family history of the condition.' The two couples each have babies and both babies have alkaptonuria.


What is the probability that the second child of Mary and Frank will have alkaptonuria?

425
views
Textbook Question

Alkaptonuria is an infrequent autosomal recessive condition. It is first noticed in newborns when the urine in their diapers turns black upon exposure to air. The condition is caused by the defective transport of the amino acid phenylalanine through the intestinal walls during digestion. About 4 people per 1000 are carriers of alkaptonuria.

Sara and James had never heard of alkaptonuria and were shocked to discover that their first child had the condition. Sara's sister Mary and her husband, Frank, are planning to have a family and are concerned about the possibility of alkaptonuria in one of their children.

The four adults (Sara, James, Mary, and Frank) seek information from a neighbor who is a retired physician. After discussing their family histories, the neighbor says, 'I never took genetics, but I know from my many years in practice that Sara and James are both carriers of this recessive condition. Since their first child had the condition, there is a very low chance that the next child will also have it, because the odds of having two children with a recessive condition are very low. Mary and Frank have no chance of having a child with alkaptonuria because Frank has no family history of the condition.' The two couples each have babies and both babies have alkaptonuria.


What is the chance that the third child of Sara and James will be free of the condition?

559
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Textbook Question

Humans vary in many ways from one another. Among many minor phenotypic differences are the following five independently assorting traits that (sort of) have a dominant and a recessive phenotype: (1) forearm hair (alleles F and f )—the presence of hair on the forearm is dominant to the absence of hair on the forearm; (2) earlobe form (alleles E and e)—unattached earlobes are dominant to attached earlobes; (3) widow's peak (alleles W and w)—a distinct 'V' shape to the hairline at the top of the forehead is dominant to a straight hairline; (4) hitchhiker's thumb (alleles H and h)—the ability to bend the thumb back beyond vertical is dominant and the inability to do so is recessive; and (5) freckling (alleles D and d)—the appearance of freckles is dominant to the absence of freckles. In reality, the genetics of these traits are more complicated than single gene variation, but assume for the purposes of this problem that the patterns in families match those of other single-gene variants.

If a couple with the genotypes Ff Ee Ww Hh Dd and Ff Ee Ww Hh Dd have children, what is the chance the children will inherit the following characteristics?


the same phenotype as the parents

406
views
Textbook Question

Humans vary in many ways from one another. Among many minor phenotypic differences are the following five independently assorting traits that (sort of) have a dominant and a recessive phenotype: (1) forearm hair (alleles F and f )—the presence of hair on the forearm is dominant to the absence of hair on the forearm; (2) earlobe form (alleles E and e)—unattached earlobes are dominant to attached earlobes; (3) widow's peak (alleles W and w)—a distinct 'V' shape to the hairline at the top of the forehead is dominant to a straight hairline; (4) hitchhiker's thumb (alleles H and h)—the ability to bend the thumb back beyond vertical is dominant and the inability to do so is recessive; and (5) freckling (alleles D and d)—the appearance of freckles is dominant to the absence of freckles. In reality, the genetics of these traits are more complicated than single gene variation, but assume for the purposes of this problem that the patterns in families match those of other single-gene variants.

If a couple with the genotypes Ff Ee Ww Hh Dd and Ff Ee Ww Hh Dd have children, what is the chance the children will inherit the following characteristics?


four dominant traits and one recessive trait

410
views
Textbook Question

Humans vary in many ways from one another. Among many minor phenotypic differences are the following five independently assorting traits that (sort of) have a dominant and a recessive phenotype: (1) forearm hair (alleles F and f )—the presence of hair on the forearm is dominant to the absence of hair on the forearm; (2) earlobe form (alleles E and e)—unattached earlobes are dominant to attached earlobes; (3) widow's peak (alleles W and w)—a distinct 'V' shape to the hairline at the top of the forehead is dominant to a straight hairline; (4) hitchhiker's thumb (alleles H and h)—the ability to bend the thumb back beyond vertical is dominant and the inability to do so is recessive; and (5) freckling (alleles D and d)—the appearance of freckles is dominant to the absence of freckles. In reality, the genetics of these traits are more complicated than single gene variation, but assume for the purposes of this problem that the patterns in families match those of other single-gene variants.

If a couple with the genotypes Ff Ee Ww Hh Dd and Ff Ee Ww Hh Dd have children, what is the chance the children will inherit the following characteristics?


all recessive traits

504
views