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Ch. 9 - The Molecular Biology of Translation
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 9, Problem B.1c

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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1
Identify the genotype of the parents: Since both parents are heterozygous carriers of a recessive mutant allele, their genotypes can be represented as Aa, where A is the normal allele and a is the recessive mutant allele.
Determine the possible genotypes of their children using a Punnett square: Cross Aa (mother) with Aa (father) to find the genotypic ratio of offspring. The possible genotypes are AA, Aa, and aa.
Calculate the probability of the second child being homozygous recessive (aa): From the Punnett square, the chance of aa is 1 out of 4, or 25%. This probability is independent of the first child's genotype because each child's genotype is an independent event.
Calculate the probability of the second child being a heterozygous carrier (Aa): From the Punnett square, the chance of Aa is 2 out of 4, or 50%.
Summarize the results: The chance the second child is homozygous recessive is 25%, and the chance the second child is a heterozygous carrier is 50%, regardless of the first child's genotype.

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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 is expressed only if an individual inherits two copies of a mutant allele, one from each parent. Carriers have one normal and one mutant allele but typically do not show symptoms. For two heterozygous carriers, each child has a 25% chance of being affected, 50% chance of being a carrier, and 25% chance of being unaffected.
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Independent Assortment and Probability in Genetics

Each child’s genotype is determined independently according to Mendelian genetics, meaning the outcome for one child does not affect the probabilities for the next. Thus, even if the first child is homozygous recessive, the chance for the second child to inherit the same genotype remains the same as the initial probability.
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Gamete Genetics and Independent Assortment

Genotype Probabilities for Offspring of Carrier Parents

When both parents are heterozygous carriers, the possible genotypes for each child are: 25% homozygous recessive (affected), 50% heterozygous carrier (unaffected but carrier), and 25% homozygous dominant (unaffected, non-carrier). These probabilities apply independently to each child regardless of previous offspring’s genotype.
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Related Practice
Textbook Question

Describe the gene and protein defects in phenylketonuria (PKU). How are these defects connected to disease symptoms?

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Textbook Question

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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Textbook Question

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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Textbook Question

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?

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Textbook Question

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.

The low-methionine diet must be maintained throughout life to manage homocystinuria. Why do you think this is the case?

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Textbook Question

A couple and some of their relatives are screened for Gaucher disease in a community-based screening program. The woman is homozygous for the dominant allele, represented by G. The woman's father, sister, and paternal grandmother are heterozygous carriers of the mutant allele, represented by g. Her paternal grandfather, her mother, and both of her mother's parents are homozygous for the dominant allele. The man is heterozygous and he has a brother with Gaucher disease. The man's parents and grandparents have not been tested, but it is known that none of them has Gaucher disease.

Draw a pedigree of this family, including the woman, the man, their siblings, parents, and grandparents.

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