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 8CONQ
Summary Introduction
To review:
The proabbilty values in case of Gaucher diseae for the following mentioned cases:
A. The probability of the offspring produced will have the disease.
B. The probability that the offspring carries two normal copies of this gene.
C. The probability that only one child out of 5 children will be affected, and the other 4 are phenotypically normal.
Introduction:
The medical condition, wherein the accumulation of a particular sphingolipid, namely, glucocerbroside occurs is referred to as Gaucher disease. The major charactertistics of the disase includes bodty fatigue, decreased count of the blood platelets, bruising, and spleen and liver enlargement.
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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.
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?
Like Hurler syndrome, Fabry disease involves an abnormal accumulationof 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 metabolism. The defect causes cell damage, especially to the kidneys, heart, and eyes. The gene that encodes α-galactosidase A is found on the X chromosome. Let’s suppose a phenotypically unaffected couple producestwo sons with Fabry disease and one phenotypically unaffecteddaughter. What is the probability that the daughter will have anaffected son?
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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