“Eventually, all species become extinct. So, it does not really matter that the world’s remaining tiger species or a tropical forest plant are endangered mostly because of human activities.” Do you agree in genetic therapy? Why or why not
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Give your response to the following statement: “Eventually, all species become extinct. So, it does not really matter that the world’s remaining tiger species or a tropical forest plant are endangered mostly because of human activities.” Do you agree in genetic therapy? Why or why not?
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- We each carry 20,000 genes in our genome. Genes can be patented, and over 6,000 human genes have been patented. Do you think that companies or individuals should be able to patent human genes? Why or why not?Mary and Marcie. identical twins, go to the same internist who is also a faculty member at a major medical center. At their last visit, they each received a brochure describing a genetics research program recently launched by the hospital and its affiliated university. Researchers were asking for volunteers to fill out a questionnaire and a consent form, donate a blood sample, and have their medical records encoded and transferred to a database. The goal was to enroll 100,000 participants, and the brochure noted that over 10,000 people had already agreed to participate. The blood sample would be used to extract DNA. which would be encoded with the same number as the medical records. This DNA would be used to search for genes associated with conditions such as arthritis, diabetes, and Alzheimer disease. The idea is that researchers interested in studying arthritis would use the medical records to identify which participants have the condition and then use DNA from those individuals to find genetic similarities that are not present in participants who do not have arthritis. The genetic similarities help identify regions of the genome that contain genes associated with arthritis. These regions can then be studied in detail to identify and isolate genes that may be associated with arthritis and other inflammatory disorders. In exchange for enrolling, participants would be informed about any genetic conditions or predispositions to genetic disease they carry and would receive free access to testing. After discussing the brochure. Mary decided to enroll, but Marcie decided she did not want to do so. She said she did not want to know what diseases she may develop or which disease genes she may carry. At their next annual visit. Marys internist told her that because her questionnaire indicated that some relatives had Alzheimer disease, her DNA was used in a study to identify risk genes. He said she had been identified as a carrier of a gene that greatly increased the likelihood that she would develop Alzheimer disease. The physician told her that age was the greatest risk factor, and while it was not 100% certain she would become a victim of Alzheimer disease, the gene she carries is a factor in 2025% of all cases. Mary asked if there was anything she could do about these findings. The internist told her that exercise, controlling blood pressure and cholesterol levels, as well as participating in mentally challenging activities such as reading or playing a musical instrument may all help reduce her chances of developing this disease. Mary then asked if Marcie was going to be told about Marys genetic risk, and the internist said that he would not tell her. For the next few days. Mary was conflicted about the situation. Marcie was an Identical twin, and If Mary carried a gene predisposing her to Alzheimer disease. Marcie must carry the same gene. Marcie did not exercise with Mary, had high blood pressure, and little interest in reading or social activities. Mary did not know whether she should tell Marcie. If you were advising Mary, what would you say? Should she tell Marcie about the risk? Should she not tell her, but instead try to get Marcie to exercise and be more social? Should Mary ask their internist to talk with Marcie about this?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?
- SCIENCE, TECHNOLOGY, AND SOCIETY Imagine that you are a genetic counselor. What advice or suggestions might you give in the following situations? (a) A couple has come for advice because the woman had a sister who died of Tay-Sachs disease. (b) A young man and woman who are not related are engaged to be married. However, they have learned that the mans parents are first cousins, and they are worried about the possibility of increased risk of genetic defects in their own children. (c) A young womans paternal uncle (her fathers brother) has hemophilia A. Her father is free of the disease, and there has never been a case of hemophilia A in her mothers family. Should she be concerned about the possibility of hemophilia A in her own children? (d) A 20-year-old man is seeking counseling because his father was recently diagnosed with Huntingtons disease. (e) A 45-year-old woman has just been diagnosed with Huntingtons disease. She says she will not tell her college-age sons because of the burden it will place on them. Given that the woman, not her sons, is your client, do you have a duty to inform the sons? Explain your reasoning.Pedigree Analysis Is a Basic Method in Human Genetics Pedigree analysis permits all of the following except: a. an orderly presentation of family information b. the determination of whether a trait is genetic c. the determination of whether a trait is dominant or recessive d. an understanding of which gene is involved in a heritable disorder e. the determination of whether a trait is sex-linked or autosomalThe Joneses were referred to a clinical geneticist because their 6-month-old daughter was failing to grow adequately and was having recurrent infections. The geneticist took a detailed family history (which was uninformative) and a medical history of their daughter. He discovered that their daughter had a history of a constant cough and wheeze that was becoming progressively worse, had difficulty gaining weight (failure to thrive), and had an extensive history of yeast infection (thrush) in her mouth. The geneticist did a simple blood test to check their daughters white blood count and determined that she had severe combined immunodeficiency (SCID). The geneticist explained that SCID is an immune deficiency that causes a marked susceptibility to infections. The defining characteristic is usually a severe defect in both the T- and B-lymphocyte systems. This results in one or more infections within the first few months of life that are serious and may even be life-threatening. Based on the family history, it was possible that their daughter had inherited a mutant allele from each of them and therefore was homozygous for a gene that causes SCID. If so, each time the Joneses had a child, there would be a 25% chance that the child would have SCID. Prenatal testing is available to determine whether the developing fetus has SCID. If the Joneses want to be certain that their next child will not have SCID, what types of reproductive options do you think they have?
- What Are Clones? Cloning is a general term used for whole organisms and DNA sequences. Define what we mean when we say we have a clone.Is gene transfer a form of eugenics? Is it advantageous to use gene transfer to eliminate some genetic disorders? Can this and other technology be used to influence the evolution of our species? Should there be guidelines for the use of genetic technology to control its application to human evolution? Who should create and enforce these guidelines?Improving the nutritional value of food has long been one of the goals in agricultural genetics. Crossing different strains of plants and animals followed by generations of artificial selection have yielded some successes, including the development of high-protein maize. The use of gene transfer biotechnology has led to other advances, including the creation of nutritionally enhanced rice to combat vitamin A deficiency and blindness. Researchers are now turning their attention to the nutritional enhancement of animals that are used as food. Scientists are now turning their attention to using gene transfer technology to nutritionally enhance animal foods. Recently, biotechnology was used to produce a sheep with increased amounts of an omega-3 essential fatty acid that plays an important role in the development of the nervous system and, in adults, reduces the risk of coronary artery disease. Once a small number of transgenic animals have been produced, they can be bred by conventional methods to establish a source of nutritionally enhanced meat and milk. The use of biotechnology is presenting consumers with many new choices, which will become more common in the future. Increasingly, we will all have to educate ourselves about the pros and cons of such decisions. How would you explain your decision to eat nutritionally enhanced meat from animals modified by biotechnology?
- Improving the nutritional value of food has long been one of the goals in agricultural genetics. Crossing different strains of plants and animals followed by generations of artificial selection have yielded some successes, including the development of high-protein maize. The use of gene transfer biotechnology has led to other advances, including the creation of nutritionally enhanced rice to combat vitamin A deficiency and blindness. Researchers are now turning their attention to the nutritional enhancement of animals that are used as food. Scientists are now turning their attention to using gene transfer technology to nutritionally enhance animal foods. Recently, biotechnology was used to produce a sheep with increased amounts of an omega-3 essential fatty acid that plays an important role in the development of the nervous system and, in adults, reduces the risk of coronary artery disease. Once a small number of transgenic animals have been produced, they can be bred by conventional methods to establish a source of nutritionally enhanced meat and milk. The use of biotechnology is presenting consumers with many new choices, which will become more common in the future. Increasingly, we will all have to educate ourselves about the pros and cons of such decisions. On the other hand, how would you explain your preference for meat from animals without higher levels of beneficial fatty acids?When the human genome sequence was finally completed, scientists were surprised to discover that the genome contains far fewer genes than expected. How many genes are present in the human genome? Scientists have also found that there are many more different kinds of proteins in human cells than there are different genes in the genome. How can this be explained?Pedigree analysis is a fundamental tool for investigating whether or not a trait is following a Mendelian pattern of inheritance. It can also be used to help identify individuals within a family who may be at risk for the trait. Adam and Sarah, a young couple of Eastern European Jewish ancestry, went to a genetic counselor because they were planning a family and wanted to know what their chances were for having a child with a genetic condition. The genetic counselor took a detailed family history from both of them and discovered several traits in their respective families. Sarahs maternal family history is suggestive of an autosomal dominant pattern of cancer predisposition to breast and ovarian cancer because of the young ages at which her mother and grandmother were diagnosed with their cancers. If a mutant allele that predisposed to breast and ovarian cancer was inherited in Sarahs family, she, her sister, and any of her own future children could be at risk for inheriting this mutation. The counselor told her that genetic testing is available that may help determine if this mutant allele is present in her family members. Adams paternal family history has a very strong pattern of early onset heart disease. An autosomal dominant condition known as familial hypercholesterolemia may be responsible for the large number of deaths from heart disease. As with hereditary breast and ovarian cancer, genetic testing is available to see if Adam carries the mutant allele. Testing will give the couple more information about the chances that their children could inherit this mutation. Adam had a first cousin who died from Tay-Sachs disease (TSD), a fatal autosomal recessive condition most commonly found in people of Eastern European Jewish descent. Because TSD is a recessively inherited disorder, both of his cousins parents must have been heterozygous carriers of the mutant allele. If that is the case, Adams father could be a carrier as well. If Adams father carries the mutant TSD allele, it is possible that Adam inherited this mutation. Because Sarah is also of Eastern European Jewish ancestry, she could also be a carrier of the gene, even though no one in her family has been affected with TSD. If Adam and Sarah are both carriers, each of their children would have a 25% chance of being afflicted with TSD. A simple blood test performed on both Sarah and Adam could determine whether they are carriers of this mutation. If Sarah carries the mutant cancer allele and Adam carries the mutant heart disease allele, what is the chance that they would have a child who is free of both diseases? Are these good odds?
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