Concepts of Genetics (12th Edition)
12th Edition
ISBN: 9780134604718
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino, Darrell Killian
Publisher: PEARSON
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Chapter 15, Problem 2NST
One of the most famous cases of an X-linked recessive mutation in humans is that of hemophilia found in the descendants of Britain’s Queen Victoria. The pedigree of the royal family indicates that Victoria was heterozygous for the trait; however, her father was not affected, and no other member of her maternal line appeared to carry the mutation. What are some possible explanations of how the mutation arose? What types of mutations could lead to the disease?
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One of the most famous cases of an X-linked recessive mutation in humans is that of hemophilia found in the descendants of Britain’s Queen Victoria. The pedigree of the royal family indicates that Victoria was heterozygous for the trait; however, her father was not affected, and no other member of her maternal line appeared to carry the mutation. What are some possible explanations of how the mutation arose? What types of mutations could lead to the disease?
Each of the four types of structural chromosomal mutations is illustrated below. Label each picture with the type of chromosomal mutation that has occurred.
Two related forms of muscular dystrophy—Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)—are both recessive, X-linked, single-gene conditions caused by point mutations, deletions, and insertion in the dystrophin gene. Each mutated form of dystrophin is one allele. Of the two diseases, DMD is much more severe. Given your knowledge of mutations, the genetic code, and translation, propose an explanation for why the two disorders differ greatly in severity.
Chapter 15 Solutions
Concepts of Genetics (12th Edition)
Ch. 15 - If a point mutation occurs within a human egg cell...Ch. 15 - One of the most famous cases of an X-linked...Ch. 15 - The cancer drug melphalan is an alkylating agent...Ch. 15 - Geneticists often use the alkylating agent...Ch. 15 - Six months pregnant, an expectant mother had a...Ch. 15 - Six months pregnant, an expectant mother had a...Ch. 15 - HOW DO WE KNOW? In this chapter, we focused on how...Ch. 15 - CONCEPT QUESTION Review the Chapter Concepts list...Ch. 15 - What is a spontaneous mutation, and why are...Ch. 15 - Prob. 4PDQ
Ch. 15 - Prob. 5PDQCh. 15 - Why is a random mutation more likely to be...Ch. 15 - Most mutations in a diploid organism are...Ch. 15 - What is the difference between a silent mutation...Ch. 15 - Describe a tautomeric shift and how it may lead to...Ch. 15 - Contrast and compare the mutagenic effects of...Ch. 15 - Why are frameshift mutations likely to be more...Ch. 15 - Why are X rays more potent mutagens than UV...Ch. 15 - DNA damage brought on by a variety of natural and...Ch. 15 - Contrast the various types of DNA repair...Ch. 15 - Mammography is an accurate screening technique for...Ch. 15 - A significant number of mutations in the HBB gene...Ch. 15 - Describe how the Ames test screens for potential...Ch. 15 - Prob. 18PDQCh. 15 - Compare DNA transposons and retrotransposons. What...Ch. 15 - Prob. 20PDQCh. 15 - In maize, a Ds or Ac transposon can alter the...Ch. 15 - Prob. 22PDQCh. 15 - In a bacterial culture in which all cells are...Ch. 15 - Presented here are hypothetical findings from...Ch. 15 - Prob. 25ESPCh. 15 - Prob. 26ESPCh. 15 - What evidence indicates that mutations in human...Ch. 15 - Among Betazoids in the world of Star Trek, the...Ch. 15 - Skin cancer carries a lifetime risk nearly equal...Ch. 15 - It has been noted that most transposons in humans...Ch. 15 - Mutations in the IL2RG gene cause approximately 30...
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- Six months pregnant, an expectant mother had a routine ultrasound that showed that the limbs of the fetus were unusually short. Her physician suspected that the baby might have a genetic form of dwarfism called achondroplasia, an autosomal dominant trait occurring with a frequency of about 1 in 27,000 births. The parents were directed to a genetic counselor to discuss this diagnosis. In the conference, they learned that achondroplasia is caused by a mutant allele. Sometimes it is passed from one generation to another, but in 80 percent of all cases it is the result of a spontaneous mutation that arises in a gamete of one of the parents. They also learned that most children with achondroplasia have normal intelligence and a normal life span. 1. What information would be most relevant to concluding which of the two mutation origins, inherited or new, most likely pertains in this case? How does this conclusion impact on this couple’s decision to have more children? 2. It has been…arrow_forwardA pedigree lists a father as the proband for a genetic disorder that he inherited from his mother. Out of his 3 children, his son inherits the condition but his two daughters do not. What can you hypothesize about this disorder? a) It is an X-linked recessive disorder. b) His wife is also a carrier of an affected X-chromosome, too. c) His son had to inherit a defective X allele from his mother since he obviously received a Y from Dad. d) Although his daughters inherited the father's mutant X allele, a wt X allele from their mother prevented them from inheriting the disorder. e) All the answers could be correct.arrow_forwardParents who both have "sickle-cell trait", i.e, are heterozygous for HbS have a child who is tested at birth, and is found to be homozygous for HbS (both alleles affected). What is the molecular reason why the child presents with no symptoms until 6 months of age? a.) the mutation affects the beta chain, which is not dominant at birth b.) the mutation affects the alpha chain, which is not dominant at birth c.) babies cannot be exposed to low oxygen that triggers symptoms d.) babies cannot be exposed to high oxygen that triggers symptomsarrow_forward
- Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?arrow_forwardWhich members of the pedigree could have been carriers, and which might have been the source of the mutation?arrow_forwardThe gene causing Coffin-Lowry syndrome (OMIM 303600) was recently identified and mapped on the human X chromosome. Coffin-Lowry syndrome is a rare disorder affecting brain morphology and development. It also produces skeletal and growth abnormalities, as well as abnormalities of motor control. Coffin-Lowry syndrome affects males who inherit a mutation of the X-linked gene. Most carrier females show no symptoms of the disease but a few carriers do. These carrier females are always less severely affected than males. Offer an explanation for this finding.arrow_forward
- Now assume that the pedigree shown in question 1 shows the inheritance of a rare genetic disease. a) The disease is most likely autosomal dominant b) The disease is most likely autosomal recessive c) The disease is equally likely to be either autosomal dominant or autosomal recessive, but cannot be x-linked d) Cannot be determined from the information givenarrow_forwardWhen a female melanotic fly is crossed with a normal male, the progeny are produced: 123 normal females, 125 melanotic females, and 124 normal males. In subsequent crosses between melanotic females and normal males, melanotic females are frequently obtained, but never any melanotic males. Provide a possible explanation for the inhertiacne of the melanotic mutation (Hint: The cross produces twice as many female progeny as male progeny)arrow_forwardIn a woman who is a carrier of a mutant OTC deficiency allele, her sons who receive the mutant allele will be affected and her daughters will be carriers who may or may not be symptomatic, depending on random X inactivation in the liver. 1) Is this a single gene inheritance or multifactorial disease? 2) Is there a strong genetic or environmental cause to the development of this disease? If both genetic and environmental causes are implicated, you have to indicate each of them separately.arrow_forward
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