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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.2a

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?

Verified step by step guidance
1
Understand that homocystinuria is caused by a mutation leading to the absence of a critical enzyme needed to break down methionine, an essential amino acid.
Recognize that because the enzyme is missing or nonfunctional, methionine cannot be properly degraded, causing a buildup of homocysteine, a toxic intermediate compound.
Realize that a high level of homocysteine in the body leads to the symptoms associated with homocystinuria, such as mental impairment and heart problems.
Conclude that by eating a low-methionine diet, the intake of methionine is reduced, which in turn decreases the amount of homocysteine produced and accumulated.
Therefore, controlling methionine intake through diet is critical to managing the symptoms and preventing the harmful effects of homocystinuria.

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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 means a person must inherit two copies of a mutated gene, one from each parent, to express the disorder. Carriers with only one mutated gene typically do not show symptoms. Understanding this helps explain why homocystinuria appears in newborn screening and the genetic risk for families.
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Autosomal Pedigrees

Methionine Metabolism and Enzyme Deficiency

Methionine is an essential amino acid broken down through a metabolic pathway involving several enzymes. In homocystinuria, a mutation causes deficiency of a key enzyme, leading to accumulation of homocysteine, a toxic intermediate. This disruption explains the biochemical basis of the disease and its symptoms.
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Translation initiation

Dietary Management in Metabolic Disorders

Dietary control, such as a low-methionine diet, reduces substrate availability for the defective metabolic pathway, preventing toxic buildup. In homocystinuria, limiting methionine intake helps lower homocysteine levels, reducing symptoms and improving outcomes. This principle is common in treating inherited metabolic disorders.
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Pedigree Symbols
Related Practice
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?

426
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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

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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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.

On the pedigree, write the genotypes (GG, Gg, or gg) for each person who has been tested or for whom you can deduce a genotype. If a genotype cannot be determined completely, list the alleles you know or deduce must be present.

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