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 11CONQ
Like Hurler syndrome, Fabry disease involves an abnormal accumulation of substances within lysosomes. However, the lysosomes of individuals with Fabry disease show an abnormal accumulation of lipids. The defective enzyme is α-galactosidase A, which is a lysosomal enzyme that functions in lipid
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Like Hurler syndrome, Fabry disease involves an abnormal accumulationof substances within lysosomes. However, the lysosomesof individuals with Fabry disease show an abnormal accumulationof lipids. The defective enzyme is α-galactosidase A, which is alysosomal enzyme that functions in lipid metabolism. The enzymaticdefect causes cell damage, especially to the kidneys, heart,and eyes. The gene that encodes α-galactosidase A is found on theX chromosome. Let’s suppose a phenotypically unaffected coupleproduces two sons with Fabry disease and one phenotypicallyunaffected daughter. What is the probability that the daughter willhave an affected son?
Hurler syndrome is due to a mutation in a gene that encodes aprotein called α-l-iduronidase. This protein functions withinlysosomes 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 accumulatewithin the lysosomes, especially in liver cells and connectivetissue cells. This accumulation leads to symptoms such as anenlarged liver and spleen, bone abnormalities, corneal clouding,heart problems, and severe neurological problems. The pedigreebelow contains three members affected with Hurler syndrome,indicated with black symbols. Based on this pedigree, does thissyndrome appear to follow autosomal recessive, autosomaldominant, X-linked recessive, or X-linked dominant inheritance?Explain your reasoning.
In many genetic disorders, a lysosomal enzyme required to degrade a specific molecule is missing or defective. One example of these maladies, often referred to as lysosomal storage diseases, is Tay-Sachs disease. Afflicted individuals inherit a defective gene from each parent that codes for an enzyme that degrades a complex lipid molecule. Symptoms include severe mental retardation and death before the age of 5 years. What is the nature of the process that is destroying the patient's cells? (Hint: Synthesis of the lipid molecule continues at a normal rate.)
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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- 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?)arrow_forwardWhen an injury occurs to the skin, the epithelial cells near the wound are signaled to react (by proliferating, migrating, and/or differentiating) to restore the skin in the wound. To investigate the healing process, researchers removed a small area of epithelial cells from the skin of mice, causing a wound. The researchers monitored the acetylation status of histone H4 at lysines K5, K8, and K16 on days 1, 4 and 9 after the wound was made. Cells in three regions were studied (see Figure A below): Normal epithelial cells not directly near the wound Epithelial cells adjacent to the wound The cells repopulating/repairing the wound (referred to as an “epithelial tongue” early in the process and “closed wound” later in the process) The percent of cells that were positive for H4 acetylation was recorded. The bar graph in Figure B below shows data for Days 4 and 9 for cells examined in the wound. While this experiment focused on mice, we may be able to apply the results to…arrow_forwardCystic fibrosis is genetic disease caused by mutations in the CFTR gene. The consequence of this is production of an abnormal transmembrane protein that is responsible for producing sweat, mucus, and digestive fluids. Explain in depth the correlation between the defective gene and the abnormal protein that is produced. Be sure to mention the process involved in protein production, whether or not those process(s) have occurred, and their end products. Thank youarrow_forward
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