Study Guide and Solutions Manual for Essentials of Genetics
9th Edition
ISBN: 9780134189987
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino, Harry Nickla
Publisher: PEARSON
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Chapter 14, Problem 4CS
CASE STUDY | Genetic dwarfism
Seven months pregnant, an expectant mother was undergoing a routine ultrasound. While prior tests had been normal, this one showed that the limbs of the fetus were unusually short. The doctor suspected that the baby might have a genetic form of dwarfism called achondroplasia. He told her that the disorder was due to an autosomal dominant mutation and occurred with a frequency of about 1 in 25,000 births. The expectant mother had studied genetics in college and immediately raised several questions. How would you answer them?
Could this disorder have been caused by X rays or ultrasounds she had earlier in pregnancy?
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1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH).
a) Hypothetically, what specific type of VECTOR will you use to perform your gene therapy? Please select from the following list of potential vectors: disabled retrovirus, adenovirus, adeno-associated virus (AAV), or herpes simplex virus (HSV), then give two reasons why this specific vector is the most appropriate for your gene therapy. Please explain why you were able to rule out the other potential…
Chapter 14 Solutions
Study Guide and Solutions Manual for Essentials of Genetics
Ch. 14 - CASE STUDY| Genetic dwarfism Seven months...Ch. 14 -
CASE STUDY | Genetic dwarfism
Seven months...Ch. 14 -
CASE STUDY| Genetic dwarfism
Seven months...Ch. 14 - CASE STUDY | Genetic dwarfism Seven months...Ch. 14 -
HOW DO WE KNOW?
1. In this chapter, we focused on...Ch. 14 - Review the Chapter Concepts list on page 257....Ch. 14 - What is a spontaneous mutation, and why are...Ch. 14 -
4. Why would a mutation in a somatic cell of a...Ch. 14 - Why is a random mutation more likely to be...Ch. 14 - Most mutations in a diploid organism are...
Ch. 14 - What is meant by a conditional mutation?Ch. 14 -
8. Describe a tautomeric shift and how it may...Ch. 14 - Contrast and compare the mutagenic effects of...Ch. 14 - Why are frameshift mutations likely to be more...Ch. 14 - Why are X rays more potent mutagens than UV...Ch. 14 -
12. DNA damage brought on by a variety of natural...Ch. 14 - Contrast the various types of DNA repair...Ch. 14 -
14. Mammography is an accurate screening...Ch. 14 - Describe how the Ames test screens for potential...Ch. 14 - What genetic defects result in the disorder...Ch. 14 - In a bacterial culture in which all cells are...Ch. 14 - Human equivalents of bacterial DNA mismatch repair...Ch. 14 - A number of different types of mutations in the...Ch. 14 -
20. Some mutations that lead to diseases such as...Ch. 14 - In maize, a Ds or Ac transposon can cause...Ch. 14 -
22. Presented here are hypothetical findings from...Ch. 14 -
23. Cystic fibrosis (CF) is a severe autosomal...Ch. 14 -
24. Electrophilic oxidants are known to create...Ch. 14 - Skin cancer carries a lifetime risk nearly equal...Ch. 14 -
26. The initial discovery of IS elements in...Ch. 14 -
27. It is estimated that about 0.2 percent of...Ch. 14 -
28. It has been noted that most transposons in...Ch. 14 - Two related forms of muscular dystrophy–Duchenne...
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- 1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). Other scientists have suggested that it might be possible to use CRISPR to treat this genetic disorder in affected individuals. (i) First, what is CRISPR? (BRIEFLY describe what it is and how it works). (ii) Briefly describe how CRISPR could be utilized in treating genetic conditions such as Batten disease.arrow_forward1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). Please EXCLUDE the use of CRISPR from consideration. A. Will you use germline or somatic cell gene therapy? Please NAME and DEFINE the form of gene therapy selected, then explain WHY this is the most appropriate choice.arrow_forwardFriedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease that causes a lack of voluntary coordination of muscle movements. Affected individuals are homozygous for an unusually large number (expansion) of repeats of a trinucleotide sequence (GAA) in the first intron of the X25 gene. Unaffected individuals typically have between 7 and 38 repeats of the trinucleotide (GAAGAAGAAGAA…). FRDA patients have anywhere from 66 to over 1,700 repeats. To understand how the GAA trinucleotide expansion leads to FRDA, researchers looked at X25 gene expression by extracting RNA from affected and unaffected patients and doing a northern blot analysis (see the figure below): In panel “a,” the researchers used a probe to detect X25 mRNA. In panel “b,” the researchers used a probe on a duplicate of the original blot to detect human GAPDH mRNA (GAPDH is an enzyme involved in glycolysis). The sample labeled “YR” is mRNA from yeast cells that was used as a control. Explain…arrow_forward
- Multiple Choice 1. For double-stranded DNA, which nucleotide base pairing ratio will result to 1? A. C/T B. (A+T)/(G+C) C. A/G D. (A+C)/(G+T) 2. Why are genetic disorders such as hemophilia and Duchenne muscular dystrophy more prevalent in males than females? A. Because they can only be passed on from father to son B. Because they are recessive disorders C. Because they are dominant genetic disorders D. Because they are X-linked recessive disordersarrow_forwardGive typed full explanation Ataxia telangiectasia is a neurodegenerative autosomal recessive disease that results in severe disability. It is caused by mutations in the ATM gene. The ATM protein has been shown to play a role in both NHEJ and homologous recombination. What types of DNA lesions do you expect to be present in patients with ataxia telangiectasia? Oxidative damage Thymine dimers Abnormal nucleotides Double-stranded breaksarrow_forward6a. Given the following mutated sequence (with respect to the normal sequence), what TYPE of mutation occurred: AAGCTTACarrow_forward
- 2. Null mutations are valuable genetic resources becausethey allow a researcher to determine what happens to anorganism in the complete absence of a particular protein. However, it is often not a trivial matter to determinewhether a mutation represents the null state of the gene.a. Geneticists sometimes use the following test forthe nullness of an allele in a diploid organism: If theabnormal phenotype seen in a homozygote for theallele is identical to that seen in a heterozygote(where one chromosome carries the allele in question and the homologous chromosome is known tobe completely deleted for the gene) then the alleleis null. What is the underlying rationale for thistest? What limitations might there be in interpreting such a result?arrow_forwardGenetics in Practice case studies are critical-thinking exercises that allow you to apply your new knowledge of human genetics to real-life problems. Case study Michelle was a 42-year-old woman who had declined counselling and amniocentesis at 16 weeks of pregnancy but was referred for genetic counseling after an abnormal ultrasound at 20 weeks of gestation. After the ultrasound, a number of findings suggested a possible chromosome abnormality in the fetus. The ultrasound showed swelling under the skin at the back of the fetuss neck; shortness of the femur, humerus, and ear length; and underdevelopment of the middle section of the fifth finger. Michelles physician performed an amniocentesis and referred her to the genetics program. Michelle and her husband did not want genetic counseling before receiving the results of the cytogenetic analysis. This was Michelles third pregnancy; she and her husband, Mike, had a 6-year-old daughter and a 3-year-old son. At their next session, the counselor informed the couple that the results revealed trisomy 21, explored their understanding of Down syndrome, and elicited their experiences with people with disabilities. She also reviewed the clinical concerns revealed by the ultrasound and associated anomalies (mild to severe intellectual disability, cardiac defects, and kidney problems). The options available to the couple were outlined. They were provided with a booklet written for parents making choices after the prenatal diagnosis of Down syndrome. After a week of careful deliberation with their family, friends, and clergy, they elected to terminate the pregnancy. Should physicians discourage a 42-year-old woman from having children because of an increased chance of a chromosomal abnormality?arrow_forwardWhich of the following terms means many genes? polymorphism polygeny polypeptide multiple allelesarrow_forward
- A mutation on an autosome causes a particular protein to be overproduced, and the excess protein accumulates in the liver and damages it. Would the resulting disorder most likely be inherited in an autosomal dominant or recessive pattern?arrow_forwardQuestion:- Often a given mutation or variant will have slightly different phenotypes in different groups of patients. “Genetic Background” is frequently used to explain how the same exact mutation could exhibit different phenotypes in different populations. Please explain.arrow_forwardCh. 14-6 A mutation on an autosome causes a particular protein to be overproduced, and the excess protein accumulates in the liver and damages it. Would the resulting disorder most likely be inherited in an autosomal dominant or recessive pattern?arrow_forward
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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY