Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 8.4, Problem 2GR
Summary Introduction
To determine: The pros and cons of the outcome if genetic tests become lower in prices than existing genetic tests.
Introduction: Genetic tests are used to identify the change at chromosome, protein or gene level. The suspected genetic condition in an individual can be ruled out by the results of genetic tests. The chances of developing a genetic disorder can also be interpreted by the results of genetic tests. Newborn screening, carrier testing, prenatal testing, and pre implantation testing are the examples of available genetic tests.
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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
Which of the examples of genetic testing below are prognostic tests? Which are diagnostic? (a) Individual sequencing (personal genomics) identifies a mutation associated with Alzheimer’s disease. (b) ASO testing determines that an individual is a carrier for the mutant b@globin allele (bS) found in sickle-cell anemia. (c) DNA sequencing of a breast tumor reveals mutations in the BRCA1 gene. (d) Genetic testing in a healthy teenager identifies an SNP correlated with autism. (e) An adult diagnosed with Asperger syndrome (AS) has a genetic test that reveals a SNP in the GABRB3 gene that is significantly more common in people with AS than the general population.
Consider the microarray in Figure 20.12. If a sample from normal tissue is labeled with a green fluorescent dye and a sample from cancerous tissue is labeled red, what color spots would represent genes you would be interested in if you were studying cancer? Explain.
Chapter 8 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 8.4 - Two genes associated with breast cancer, BRCA1 and...Ch. 8.4 - Prob. 2GRCh. 8 - What are Bruces options at this point? Bruce and...Ch. 8 - Should he reconsider and try chemotherapy instead?...Ch. 8 - Should he go ahead and enroll on the chance that...Ch. 8 - Until 1944, which cellular component was thought...Ch. 8 - Why do you think nucleic acids were originally not...Ch. 8 - Prob. 3QPCh. 8 - In the experiments of Aery, MacLeod, and McCarty,...Ch. 8 - Read the following experiment and interpret the...
Ch. 8 - Recently, scientists discovered that a rare...Ch. 8 - List the pyrimidine bases, the purine bases, and...Ch. 8 - In analyzing the base composition of a DNA sample,...Ch. 8 - The basic building blocks of nucleic acids are: a....Ch. 8 - Adenine is a: a. nucleoside b. purine c....Ch. 8 - Polynucleotide chains have a 5 and a 3 end. Which...Ch. 8 - DNA contains many hydrogen bonds. Are hydrogen...Ch. 8 - Prob. 13QPCh. 8 - State the properties of the WatsonCrick model of...Ch. 8 - Using Figures 8.7 and 8.9 as a guide, draw a...Ch. 8 - A beginning genetics student is attempting to...Ch. 8 - Chemical analysis shows that a nucleic acid sample...Ch. 8 - Prob. 18QPCh. 8 - RNA is ribonucleic acid, and DNA is...Ch. 8 - What is the function of DNA polymerase? a. It...Ch. 8 - Which of the following statements is not true...Ch. 8 - Make the complementary strand for the following...Ch. 8 - How does DNA replication occur in a precise manner...Ch. 8 - Nucleosomes are complexes of: a. RNA and DNA b....Ch. 8 - Discuss the levels of chromosomal organization...
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- Two genes associated with breast cancer, BRCA1 and BRCA2, were discovered in 1994 and 1995, respectively, and shortly thereafter, were patented by Myriad Genetics, a company based in Utah. Under the patents, testing for mutations in these genes could only be performed by Myriad, at costs from 300 to 3,000. Myriad also patented the process of analyzing the results of such tests, preventing anyone who obtains the sequence of their BRCA genes by other means (which itself would probably be patent infringement) from interpreting the information. The idea that genes can be patented has been a contentious issue from the beginning. Patents are not granted for products of nature, meaning that genes inside the body are not patentable, but biotech companies successfully argued that by removing a gene from the human body, purifying it, and then obtaining its DNA sequence, they created something not found in nature, and which is therefore a patentable invention. The U.S. Patent Office found the argument persuasive, but opponents argue that genes are parts of our bodies and can be identified but not invented. Biotech companies argue that without the protection offered by patents, they would have no incentive for research and development of diagnostic tests. In Europe, patents for BRCA1 and BRCA2 were revoked in 2004 because they did not meet the standards for a patent. After more than a decade of legal disputes, the patents were partially restored in 2008 on a very restricted basis. In the United States, a lawsuit, focused on the patents for the BRCA genes, was filed in May 2009. The suit challenges the basic idea that genes are patentable. In November 2009, the judge ruled that the lawsuit can proceed, and the case is moving forward. In March 2010, a federal court invalidated Myriad Genetics patent on these genes. In August 2011, the U.S. Court of Appeals reversed the lower courts decision and ruled that gene sequences isolated from cells are not a product of nature and are therefore patentable. The case went to the U.S. Supreme Court, which ordered the appeals court to reconsider the case. The Federal Appeals Court did not change its decision, and the case once again, went to the U.S. Supreme Court. A unanimous decision in June 2013 invalidated Myriads patents on the basis that isolating a gene from nature does not make it patentable. This is a landmark decision on gene patenting with widespread ramifications for the biotechnoloogy industry. Will this decision reduce the incentives for companies to invest in new diagnostic tests that would be used by cancer victims or those with serious genetic disorders?arrow_forwardAlthough it is well known that X-rays cause mutations, they are routinely used to diagnose medical problems, including potential tumors, broken bones, and dental cavities. Why is this done? What precautions need to be taken?arrow_forwardWhile a stem cell transplant from an unaffected donor is currently the only cure for DBA, genome-editing technologies may one day enable the correction of a mutation in a patient’s own bone marrow stem cells. However, what specific information would be needed, beyond a symptom-based diagnosis of DBA, in order to accomplish this?arrow_forward
- Cystic fibrosis (CF) is a genetic disorder affecting a number of organs, including the lung airways, pancreas, and sweat glands. Mutations in both copies of the CFTR gene causes cystic fibrosis. Imagine that you have sweat gland samples from several Cystic Fibrosis patients (A-C) with unknown mutations in CFTR. You also have normal (+) sweat gland sample to use as a positive control. А В С А В С Choose which mutation would explain the RNA and protein results in A, B, & C: 1. Promoter/Regulatory mutation 2. Silent mutation 3. Missense mutation 4. Deletion mutation 5. Splice site mutation 6. Nonsense mutation RNA gel Protein gelarrow_forward(2) Design an experiment on how would molecular genetic tools, such as DNA microarrays, be used to study human diseases, such as skin tumor cell growth or migration? How could they be used to study melanin expression in nomal skin cells? Rubric for Class Portfolio #1: Student creates an experiment with experimental and negative control group on hoW DNA microarrays can used to address how it can be used to monitor skin tumor cell growth and/or migration, as well as melanin gene expression.arrow_forwardResearchers 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?arrow_forward
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- Suppose that you could undergo genetic testing at age 18 for susceptibility to a genetic disease that would not appear until middle age and has no available treatment. a. What would be some of the possible reasons for having such a genetic test and some of the possible reasons for not having the test? b. Would you personally want to be tested? Explain your reasoning.arrow_forwardAs shown , several medical agents are now commercially produced by genetically engineered microorganisms. Discuss the advantages and disadvantages of making these agents this way.arrow_forwardA graduate student who has not taken BIOL 519 thinks they have discovered a new oncogene that could cause breast cancer. The student transfects cells with this oncogene and finds that the cells proliferate uncontrollably. The student next designs a PCR assay that will detect the presence of the oncogene in cancerous breast tissue. The student sets up the assay and analyzes the presence of the oncogene in normal and tumor issue samples (See data below). The student is disappointed to see that the potential oncogene is present at similar levels in both the normal and tumor tissue. Therefore, the student concludes that this gene is not an oncogene. Do you agree with this conclusion? Justify your answer (5-6 senetences max).arrow_forward
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