Genetics: Analysis and Principles
6th Edition
ISBN: 9781259616020
Author: Robert J. Brooker Professor Dr.
Publisher: McGraw-Hill Education
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Chapter 25, Problem 10CONQ
Hurler syndrome is due to a mutation in a gene that encodes a protein called α-l-iduronidase. This protein functions within lysosomes as an enzyme that breaks down mucopolysaccharides (a type of polysaccharide that has many acidic groups attached). When this enzyme is defective, excessive amounts of the mucopolysaccharides dermatan sulfate and heparin sulfate accumulate within the lysosomes, especially in liver cells and connective tissue cells. This accumulation leads to symptoms such as an enlarged liver and spleen, bone abnormalities, corneal clouding, heart problems, and severe neurological problems. The pedigree below contains three members affected with Hurler syndrome, indicated with black symbols. Based on this pedigree, does this syndrome appear to follow autosomal recessive, autosomal dominant, X-linked recessive, or X-linked dominant inheritance? Explain your reasoning.
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Pompe disease is due to a deficiency in lysosomal α-1,4-glucosidase, also called acid maltase. Lysosomes function as recycling centers in the cell and normally degrade excess muscle glycogen into glucose for the energy-converting reactions of the glycolytic pathway. Pompe disease was described in 1932 by Dutch pathologist Johann Pompe, who recognized that lysosomes in the affected patient's accumulated large amounts of glycogen. However, Henri Hers—the same Belgian pathologist who described the symptoms of liver glycogen phosphorylase deficiency (Hers disease)—discovered in 1965 that Pompe disease was due to a lysosomal α-1,4-glucosidase deficiency.
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Lysosomal α-1,4- glucosidase
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Answer these questions: What protein/enzyme does the mutation effects? Symptoms and, if you can, how are the symptoms…
You are investigating a lysosomal storage disease and you discover that newly synthesized lysosome hydrolases (proteins that should be sent to the lysosome) are secreted from the cells rather than being delivered to the lysosomes (where they should normally be located). What is the most likely explanation for this finding?
(Hint: what might be different about the proteins that would cause them to not end up in the correct location?)
One form of anemia results when individuals have a deficiency in the enzyme phosphatidylinositol glycan A (PIGA). This enzyme is required for the membrane attachment of proteins anchored by glycolipids to the plasma membrane, using what is called a ‘GPI-linkage.’ Included in the group of GPI-linked cell surface proteins is DAF/CD55. These individuals become anemic because:
DAF/CD55 prevents the lysis of red blood cells by infecting pathogens.
DAF/CD55 normally prevents the spleen from clearing healthy red blood cells from the circulation.
In the absence of PIGA, the red blood cell membrane is bare of proteins allowing increased access of complement activating proteins to attach to the cell membrane.
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Chapter 25 Solutions
Genetics: Analysis and Principles
Ch. 25.1 - Which of the following wouldnotbe consistent with...Ch. 25.1 - 2. Assuming complete penetrance, which type of...Ch. 25.1 - 3. Which of the following is not a common...Ch. 25.1 - Prob. 4COMQCh. 25.2 - Prob. 1COMQCh. 25.2 - Haplotype association studies are aimed at the...Ch. 25.3 - 1. Which of the following is not a method used in...Ch. 25.3 - 2. Which of the following prenatal genetic testing...Ch. 25.4 - Prob. 1COMQCh. 25.5 - 1. An oncogene is produced from a ________that has...
Ch. 25.5 - Which of the following is a type of genetic change...Ch. 25.5 - 3. Tumor-suppressor genes promote cancer...Ch. 25.5 - 4. Normal (nonmutant) tumor-suppressor genes often...Ch. 25.5 - Prob. 5COMQCh. 25.6 - Prob. 1COMQCh. 25 - 1. With regard to pedigree analysis, make a list...Ch. 25 - 2. Explain, at the molecular level, why human...Ch. 25 - 3. Many genetic disorders exhibit locus...Ch. 25 - Prob. 4CONQCh. 25 - Prob. 5CONQCh. 25 - Figure 25.1 illustrates albinism in two different...Ch. 25 - Prob. 7CONQCh. 25 - Prob. 8CONQCh. 25 - Ehler-Danlos syndrome is a rare disorder caused by...Ch. 25 - 10. Hurler syndrome is due to a mutation in a gene...Ch. 25 - Like Hurler syndrome, Fabry disease involves an...Ch. 25 - Achondroplasia is a rare form of dwarfism caused...Ch. 25 - Prob. 13CONQCh. 25 - 14. Marfan syndrome is due to a mutation in a...Ch. 25 - 15. Sandhoff disease is due to a mutation in a...Ch. 25 - Describe the two assumptions that underlie the...Ch. 25 - Prob. 17CONQCh. 25 - What is a prion? Explain how a prion relies on...Ch. 25 - 19. Some people have a genetic predisposition for...Ch. 25 - What is the difference between an oncogene and a...Ch. 25 - Prob. 21CONQCh. 25 - Prob. 22CONQCh. 25 - Prob. 23CONQCh. 25 - Prob. 24CONQCh. 25 - Prob. 25CONQCh. 25 - Prob. 26CONQCh. 25 - Prob. 27CONQCh. 25 - With regard to cancer cells, which of the...Ch. 25 - Prob. 29CONQCh. 25 - 1. Which of the following experimental...Ch. 25 - Prob. 2EQCh. 25 - 3. What is meant by the term genetic testing? How...Ch. 25 - Prob. 4EQCh. 25 - 5. Chapter 21 describes a method known as Western...Ch. 25 - 6. An experimental assay for the blood-clotting...Ch. 25 - 7. Discuss ways to distinguish whether a...Ch. 25 - 8. The codon change (Gly-12 to Val-12) in...Ch. 25 - Explain how DNA microarrays are used in molecular...Ch. 25 - Make a list of the benefits that may arise from...Ch. 25 - 2. Our government has finite funds to devote to...Ch. 25 - Prob. 3QSDC
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