Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Textbook Question
Chapter 10, Problem 4QP
Questions 4 through 6 refer to the following hypothetical pathway in which substance A is converted to substance C by enzymes 1 and 2. Substance B is the intermediate produced in this pathway:
a. If an individual is homozygous for a null mutation in the gene that codes for enzyme 1, what will the result be?
b. If an individual is homozygous for a null mutation in enzyme 2, what will the result be?
c. What if an individual is heterozygous for a dominant mutation in which enzyme 1 is overactive?
d. What if an individual is heterozygous for a mutation that abolishes the activity of enzyme 2 (a null mutation)?
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You generate mutants in the metabolic pathway for starlase. You conduct some complementation
tests (after testing for dominance of course) and come up with the following results:
1
2
4
6
1
+
+
+
2
+
3
+
4
+
5
6
a. How many complementation groups are there? [Select]
b. You conduct some additional experiments to elucidate the starlase metabolic pathway. Your
results are shown below. Use this information alongside information from the complementation
table above to place the intermediates in the correct order on the pathway. (HINT: use the
complementation groups from the table above to help you consolidate information on the tables
below. Reference practice question 3 from today's lecture for help).
Addition to minimal medium
Mutant
None
starlase
P
1
+
+
2
+
+
4
+
+
5
+
6
Precursor -->
[ Select ]
[ Select ]
[ Select ]
--> starlase
c. Mutant 4 has a loss-of-function mutation for which enzyme in the starlase synthesis pathway?
[ Select ]
E1
E2
ЕЗ
Е4
Precursor > Intermediate 1→ Intermediate…
Leber's Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells in the retina and results in loss of central vision. The disease is caused by mutations in any one of three genes in the mitochondrial genome that encode proteins involved in oxidative
phosphorylation. In a genetic counseling clinic, a woman and her husband seek advice on the potential that any of their children would be afflicted with LHON. The husband's mother and father, both exhibit symptoms of the disease, but the woman does not. What is a reasonable advising
statement to make?
There is not enough information to advise this couple.
a.
The couple should be advised that all of their children are likely to display symptoms of LHON.
b.
The couple should be advised that all their female children will display symptoms of LHON, but male children will be unaffected.
C.
The couple should be advised that all their male children will display symptoms of LHON, but female children will be…
Leber’s Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells in the retina and results in loss of central vision. The disease is caused by mutations in any one of three genes in the mitochondrial genome that encode proteins involved in oxidative phosphorylation. In a genetic counseling clinic, a woman and her husband seek advice on the potential that any of their children would be afflicted with LHON. The husband's mother and father, both exhibit symptoms of the disease, but the woman does not. What is a reasonable advising statement to make?
Chapter 10 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 10.4 - Prob. 1GRCh. 10.4 - Prob. 2GRCh. 10.7 - Prob. 1EGCh. 10.7 - Prob. 2EGCh. 10 - A couple was referred for genetic counseling...Ch. 10 - A couple was referred for genetic counseling...Ch. 10 - A couple was referred for genetic counseling...Ch. 10 - Many individuals with metabolic diseases are...Ch. 10 - Prob. 2QPCh. 10 - Enzymes have all the following characteristics...
Ch. 10 - Questions 4 through 6 refer to the following...Ch. 10 - Questions 4 through 6 refer to the following...Ch. 10 - Prob. 6QPCh. 10 - Prob. 7QPCh. 10 - Prob. 8QPCh. 10 - a. Compounds A, B, C, and D are known to be...Ch. 10 - b. Compounds A, B, C, and D are known to be...Ch. 10 - a. If an individual who is homozygous for the...Ch. 10 - Prob. 12QPCh. 10 - Suppose that in the formation of phenylalanine...Ch. 10 - If phenylalanine was not an essential amino acid,...Ch. 10 - Phenylketonuria and alkaptonuria are both...Ch. 10 - The normal enzyme required for converting sugars...Ch. 10 - Knowing that individuals who are homozygous for...Ch. 10 - Prob. 18QPCh. 10 - A person was found to have very low levels of...Ch. 10 - If an extra nucleotide is inserted in the first...Ch. 10 - Transcriptional regulators are proteins that bind...Ch. 10 - Prob. 22QPCh. 10 - Prob. 23QP
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- a) The table above shows the predicted results. A plus means when the strain with a mutation in the enzyme on the left is given radiolabeled A then radiolabel can be detected in the intermediate at the top. Are all the predicted results correct? yes no b) If you answered yes for part a, explain the results for row 3 (3 sentences MAX); if you answered no, state which boxes are wrong. c) Under what cellular conditions would you expect this pathway to be fully inhibited? (1 sentence Max) d) The upper branch (leading to F) is a pathway that is breaking down a metabolite to make ATP and the middle pathway uses ATP to synthesize I. How would you expect the following enzymes to be regulated by energy charge? Enzyme 1: Enzyme 4: Enzyme 6:arrow_forwardSee the hypothetical pathway answer the following questions. A) If an individual is homozygous for a null mutation in the gene that codes for Enz1, what would the result be? B) What would happen if an individual is heterozygous for a mutation that abolishes the activity of Enz2? C) What could happen to the offspring of the individuals described above (in a and b)? Assume that they only have the mutations described.arrow_forwardA genetic disease called glucose-6-phosphate dehydrogenase deficiency is inherited in a manner similar to that of sickle-cell anemia except that it occurs most frequently in males. The defective enzyme cannot keep erythrocytes supplied with sufficient amounts of the antioxidant molecule NADPH NADPH protects cell membranes and other cellular structures from oxidation. Describe in general terms the inheritance pattern of this molecular disease. Why do you think that the antimalarial drug primaquine, which stimulates peroxide formation, results in devastating cases of hemolytic anemia in carriers of the defective gene? Does it surprise you that this genetic anomaly is commonly found in African and Mediterranean populations?arrow_forward
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