ND STONY BROOK UNIVERSITY LOOSELEAF GENETICS: FROM GENES TO GENOMES
6th Edition
ISBN: 9781260406092
Author: HARTWELL, Leland, HOOD, Leroy, Goldberg, Michael
Publisher: Mcgraw-hill Education/stony Brook University
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Chapter 15, Problem 25P
Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external opthalmoplegia (PEO) are rare diseases in which up to 7.6 kb of the mitochondrial genome is deleted. KSS affects the central nervous system, skeletal muscle, and heart; patients often die in young adulthood. Pearson syndrome is characterized by severe anemia and pancreatic dysfunction. The condition is usually fatal during infancy, but the few survivors often develop the symptoms of KSS. PEO patients have ptosis (drooping eyelids) and weakness in the limbs, but they have normal life spans.
| a. | How can you explain the variation in tissues affected and severity of symptoms in patients with these three conditions, given that they all bear large deletions of mtDNA? (Assume that the size of the deletion does not contribute to |
| b. | Assuming that mtDNA begins its replication from a single origin, what can you conclude from these diseases about the location of this replication origin? |
| c. | Although these syndromes are due to mtDNA deletions, they are not usually maternally inherited but instead arise as a new mutation in an individual. For example, mothers with PEO usually do not transmit this trait to their offspring. Propose an explanation for this surprising finding. |
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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?
a.
The couple should be advised that all of their children are likely to display symptoms of LHON.
b.
There is not enough information to advise this couple.
c.
The couple should be advised that none of their children will be affected.
d.
The couple should be advised that all their male children will display symptoms of LHON, but female children will be unaffected.
e.
The couple should 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 15 Solutions
ND STONY BROOK UNIVERSITY LOOSELEAF GENETICS: FROM GENES TO GENOMES
Ch. 15 - Match each numbered item with the most closely...Ch. 15 - Assuming human cells have on average 1000...Ch. 15 - Reverse translation is a term given to the process...Ch. 15 - The human nuclear genome encodes tRNAs with 32...Ch. 15 - The human mitochondrial genome includes no genes...Ch. 15 - How do you know if the halibut you purchased at...Ch. 15 - Is each of these statements true of chloroplast or...Ch. 15 - Suppose you are characterizing the DNA of a...Ch. 15 - An example of a gene-targeting DNA plasmid vector...Ch. 15 - Which of the following characteristics of...
Ch. 15 - The Saccharomyces cerevisiae nuclear gene ARG8...Ch. 15 - The so-called hypervariable regions HV1 and HV2 of...Ch. 15 - Suppose a new mutation arises in a mitochondrial...Ch. 15 - Describe at least two ways in which the...Ch. 15 - Why are severe mitochondrial or chloroplast gene...Ch. 15 - Suppose you are examining a newly found plant...Ch. 15 - A form of male sterility in corn is inherited...Ch. 15 - Plant breeders have long appreciated the...Ch. 15 - A mutant haploid strain of Saccharomyces...Ch. 15 - Prob. 20PCh. 15 - What characteristics in a human pedigree suggest a...Ch. 15 - The first person in the family represented by the...Ch. 15 - In 1988, neurologists in Australia reported the...Ch. 15 - If you were a genetic counselor and had a patient...Ch. 15 - Kearns-Sayre syndrome KSS, Pearson syndrome, and...Ch. 15 - Many clinically relevant mitochondrial diseases...Ch. 15 - Leigh syndrome is characterized by psychomotor...Ch. 15 - All mutations in mitochondrial genes ultimately...Ch. 15 - How could researchers have determined that the...
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