Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 15, Problem 12QP
One unexpected result of the sequencing of the human genome was the finding that mutations in a single gene can be responsible for multiple distinct disorders. For example, mutations in the RET gene can cause two different types of multiple endocrine neoplasias, familial medullary thyroid carcinoma, and Hirschsprung disease. How do you think mutations in a single gene can have such diverse effects?
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Gene mutations can be classified in two major ways:(1) hereditary or germline mutations that are inherited from a parent and are present throughout a person’s life in virtually every cell in the body.(2) acquired or somatic mutations that occur at some time during a person’s life and are present only in certain cells, not in every cell in the body.If there is no family history of a particular disease but a child has the disease then it may have arisen due to a(n) ________ mutation early during development.
A) acquired
B) inherited
C) silent
D) transition
Huntington disease (HD) is an inherited neurodegenerative disorder characterized by gradual, irreversible impairment of psychological, motor, and cognitive functions. Symptoms typically appear in middle age, but onset can occur at almost any age, and the course of the disease can range from 15 to 20 years. The molecular basis of HD is becoming better understood, and the genetic mutation has been traced to a gene that encodes a large protein of unknown function. In individuals who will not develop HD, a region of the gene that encodes the N-terminus of this protein has a sequence of CAG codons (for glutamine) repeated 6 to 39 times in succession.
In individuals with adult-onset HD, this codon (3 nucleotides) is typically repeated 40 to 55 times
In those with childhood-onset HD, it is repeated more than 70 times.
*codon: refers to the 3 nucleotides that code for amino acid.
A small portion of the coding sequence of the HD gene is given below. The nucleotide sequence of the DNA is…
Researchers have identified a gene in humans that (when mutated) causes tremors and unstable walking due to neurological problems. This disorder is inherited in an autosomal recessive manner, and the mutant allele isknown to result from a loss-of-function mutation. The same gene hasbeen found in mice, although a mutant mouse version has not beendiscovered. To develop an effective drug therapy to treat this disorderin humans, it would be experimentally useful to have a mouse model.In other words, it would be desirable to develop a strain of mice thatcarry the mutant allele in the homozygous condition. How would youdevelop such a strain?
Chapter 15 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 15.1 - Who Owns Your Genome? John Moore, an engineer...Ch. 15.1 - Who Owns Your Genome? John Moore, an engineer...Ch. 15 - James sees an online ad for an at-home genetic...Ch. 15 - James sees an online ad for an at-home genetic...Ch. 15 - James sees an online ad for an at-home genetic...Ch. 15 - James sees an online ad for an at-home genetic...Ch. 15 - The gene controlling ABO blood type and the gene...Ch. 15 - Hemophilia and color blindness are both recessive...Ch. 15 - Prob. 3QPCh. 15 - Prob. 4QP
Ch. 15 - How many nucleotides does the human genome...Ch. 15 - Which of the following best describes the process...Ch. 15 - Which of the following is NOT an activity carried...Ch. 15 - Prob. 8QPCh. 15 - Prob. 9QPCh. 15 - What percentage of the DNA in the genome actually...Ch. 15 - When the human genome sequence was finally...Ch. 15 - One unexpected result of the sequencing of the...Ch. 15 - Prob. 13QPCh. 15 - Prob. 14QPCh. 15 - Prob. 15QPCh. 15 - Prob. 16QPCh. 15 - Prob. 17QP
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- Cancer-causing mutations in genes can have different effects on the protein products expressed. a) What type of mutation would be dominant in the development of cancer? Why? b) What type of mutation would be expressed as a recessive trait in the development of cancer? Why? c) Based upon your answers to parts (a) and (b), how would you treat these situations using a gene therapy approach?arrow_forwardMutations within the genes for ARSs, are known to be cause certain human maladies, such as the neurodegenerative disorder Charcot-Marie-Tooth (CMT) disease along with other central nervous system dysfunctions, and cancer. Interestingly, not all those who possess mutations within specific ARS genes do not display the disease phenotype. Provide at least one reason why a person might survive. Remember, do not just name a concept. Describe the concept and then explain WHY (on a molecular level) this explanation holds true.arrow_forwardDiamond–Blackfan anemia (DBA) is a rare, dominant genetic disorder characterized by bone marrow malfunction, birth defects, and a predisposition to certain cancers. Infants with DBA usually develop anemia in the first year of life, have lower than normal production of red blood cells in their bone marrow, and have a high risk of developing leukemia and bone cancer. At the molecular level, DBA is caused by mutations in any one of 10 genes that encode ribosomal proteins. The first-line therapy for DBA is steroid treatment, but more than half of affected children develop resistance to the drugs and in these cases, treatment is halted. DBA can be treated successfully with bone marrow or stem cell transplants from donors with closely matching immune system markers. Trans- plants from unrelated donors have significant levels of complications and mortality. QUESTIONS: 1. Given that a faulty ribosomal protein is the culprit and causes DBA, discuss the possible role of normal ribosomal…arrow_forward
- Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene. Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1). The actual DMD mRNA is about 16,000 base-pairs!------Consider single nucleotide polymorphism (SNP) #1 (Figure 1). Is this mutation likely to cause Duchenne muscular…arrow_forwardDiamond–Blackfan anemia (DBA) is a rare, dominant genetic disorder characterized by bone marrow malfunction, birth defects, and a predisposition to certain cancers. Infants with DBA usually develop anemia in the first year of life, have lower than normal production of red blood cells in their bone marrow, and have a high risk of developing leukemia and bone cancer. At the molecular level, DBA is caused by mutations in any one of 10 genes that encode ribosomal proteins. The first-line therapy for DBA is steroid treatment, but more than half of affected children develop resistance to the drugs and in these cases, treatment is halted. DBA can be treated successfully with bone marrow or stem cell transplants from donors with closely matching immune system markers. Trans- plants from unrelated donors have significant levels of complications and mortality. 1. Given that a faulty ribosomal protein is the culprit and causes DBA, discuss the possible role of normal ribosomal proteins. Why might…arrow_forwardOur understanding of maternal effect genes has been greatly aided by their identification in experimental organisms such as Drosophila melanogaster and Caenorhabditis elegans. In experimental organisms with a short generation time, geneticists have successfully searched for mutant alleles that prevent the normal process of embryonic development. In many cases, the offspring die at early embryonic or larval stages. These are called maternal effect lethal alleles. How would a researcher identify a mutation that produced a recessive maternal effect lethal allele?arrow_forward
- One unexpected result of the sequencing of the human genome was the finding that mutations in a single gene can be responsible for multiple distinct disorders. How do you think mutations in a single gene can have such diverse effects?arrow_forwardDuchenne Muscular Dystrophy (DMD) is a disease that manifests in muscle weakness. It exhibits X-linked recessive inheritance pattern. The dystrophin gene is large and can have many different mutations along the DNA. From the following mutations between the gene sequence (DNA template strand) of a healthy male and an affected brother determine if they would affect the production of mRNA or the sequence of the protein. Base your analysis on the position of the mutation in the transcription unit, and the impact of the change on the codons. Mutation 1: Position -6 Healthy individual A Affected brother C Group of answer choices A. Normal mRNA, normal protein B. No mRNA produced (promoter affected) C. Abnormal mRNA, affected protein D. Normal mRNA, affected protein Base your analysis on the position of the mutation in the transcription unit, and the impact of the change on the codons.arrow_forwardLeber congenital amaurosis (LCA) is a form of congenital blindness in humans and is known to be caused by homozygosity for recessive mutations in the RPE65 gene. Recently, a rare dominant mutation in RPE65 has been implicated as one cause of an eye disease called retinitis pigmentosa, which is characterized by retinal degeneration that can progress to blindness. The dominant RPE65 mutation is a missense mutation causing amino acid 447 in the polypeptide to change from Asp to Glu. Little is known about the nature of the mutant protein. a. Do you think that the dominant allele is more likely a loss-of-function or a gain-of-function mutation? Explain. b. Recently a group of clinicians and scientists reported that gene therapy (gene replacement therapy) for LCA has been at least partially successful. Do you think that the same kind of gene therapy can be used for patients with retinitis pigmentosa caused by the dominant mutant allele of RPE65? Explain.arrow_forward
- The table below shows different types of mutations in different positions in four genes. Choose the letter (A to E), from the drop-down menu, that represents the most likely type of protein that will be produced from each of these mutated genes. A: completely normal protein B: functional protein with ONE amino acid different from normal C: non-functional protein with ONE amino acid different from normal D: non-functional protein with MANY amino acids different from normal E: no protein at all Answer Type of mutation Position of mutation in gene (A, B, C, D, or E) before the part of the gene that specifies the active site of the enzyme 2 base pair insertion Inonsense immediately before the stop codon in the part of the gene that specifies the active site of the enzyme silent 1 base pair insertion in an intronarrow_forwardSarah has always lived what many consider an active and healthy lifestyle. She makes a conscious effort to eat well and exercise daily, never smoked, and drinks moderately. Many of Sarah's female relatives (including her mother and grandmother) have had breast cancer. Sarah has decided to have her genome sequenced. She is specifically interested in whether she shows mutations in BRCA1 and BRCA2 that are linked to breast cancer. What information can be drawn from the sequence data Sarah will receive? Justify your answer. • Sarah will know if she will develop breast cancer. • Sarah will know if and when she will develop breast cancer. • Sarah will know the severity of her breast cancer based on the number of mutations; that is, the more mutations in those genes, the greater the severity of the disease. • Sarah will know whether she is predisposed to breast cancer. • Sarah will know that she will not develop breast cancer if there are no mutations in those genes.arrow_forward(a) How does the duplication of individual genes occur? (b) individual that inherit a genetic condition known as xeroderma pigmentosum exhibit an extreme sensitivity to sunlight exposure and often develop skin cancer by the age of 10. What repair pathway is most likely disrupted as a result of such mutation? Explain why?arrow_forward
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