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?
Which of the following disorders in humans has an X-linked recessive inheritance pattern?
a.Hutchinson-Gilford progeria
b.Tay-Sachs disease
c.Marfan syndrome
d.Red-green color blindness
Which of the following is described as a structural rearrangement of a chromosome in which a broken piece has become reattached in the wrong location?
a.Duplication
b.Translocation
c.Inversion
d.Deletion
Which of the following disorders arises from translocation events?
a.Huntington’s disease
b.Infertility
c.Burkitt lymphoma
d.Duchenne muscular dystrophy
Anhidrotic ectodermal dysplasia is an X-linked recessive disorder in humans characterized by small teeth, no sweat glands, and sparse body hair. This trait is usually seen in men, but women who are heterozygous carriers of the trait often have irregular patches of skin with few or no sweat glands (see the illustration below). a. Explain why women who are heterozygous carriers of a recessive gene for anhidrotic ectodermal dysplasia have irregular patches of skin lacking sweat glands. b. Why does the distribution of the patches of skin lacking sweat glands differ among the females depicted in the illustration, even between the identical twins?
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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- 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_forwardTheodor Boveri predicted that malignancies would often be associated with chromosomal mutation. What lines of evidence substantiate this prediction?arrow_forwardWhich members of the pedigree could have been carriers, and which might have been the source of the mutation?arrow_forward
- What is the link between a phosphate functional group, the cellular respiration and the X-linked recessive traits?arrow_forwardTay Sachs is a rare autosomal recessive disorder that causes mental and physical disabilities leading to death in infants. Affected individuals are lacking the enzyme hexosaminidase, causing lipids to build up in the brain.The HEXA gene on chromosome 15 codes for hexosaminidase, and a four base pair insertion in the gene results in an altered reading frame and non-functional enzyme being produced. Individuals who are carriers (heterozygotes) of the Tay-Sachs allele are not affected by the disease but appear to have increased protection against tuberculosis.The incidence of Tay-Sachs disease is much higher among Ashkenazi Jews originating from Eastern Europe than the general population of the United States. About 1 in 3 500 babies of Ashkenazi Jewish heritage are born with Tay-Sachs disease and about 1 in 30 Ashkenazi Jews are carriers compared to about 1 in 320 000 babies born with the disease and about 1 in 300 carriers in the general United States population. Ashkenazi Jews living in…arrow_forwardHow does a positive ASO test for sickle-cell anemia determine that an individual is homozygous recessive for the mutation that causes sickle-cell anemia?arrow_forward
- . In humans, hemophilia is an X-linked recessive gene and will only be expressed in females if they are homozygous for this gene. However, in some rare cases, a heterozygote becomes hemophilic. Explain how this incident happens and why will there be skewed X-inactivation?arrow_forwardWhat genetic criteria distinguish a case of extranuclear inheritance from (a) a case of Mendelian autosomal inheritance; (b) a case of X-linked inheritance?arrow_forwardDNA sequencing of your own two β-globin genes (one from each of your two Chromosome 11s) reveals a mutation in one of the genes. given this information alone, should you worry about being a carrier of an inherited disease that could be passed on to your children? What other information would you like to have to assess your risk?arrow_forward
- A condition known as icthyosis hystrix gravior appeared in a boy in the early eighteenth century. His skin became very thick and formed loose spines that were sloughed off at intervals. When he grew up, this “porcupine man” married and had six sons, all of whom had this condition, and several daughters, all of whom were normal. For four generations, this condition was passed from father to son. From this evidence, what can you postulate about the location of the gene?arrow_forwardColorblindness and hemophilia are both X-linked traits in humans. Explain how a female who has a defective color vision gene on one X chromosome and a defective blood clotting gene causing hemophilia on the other X chromosome can be neither a hemophiliac nor colorblind? Please discuss the effect of Gene dosage compensation in your answer and in your answer describe the molecular process by which this occurs.arrow_forwardWhy are there so few Y-linked traits in humans?arrow_forward
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