a) Describe how genotype data for an array of SNPs can be used in a GWAS. b) How is artificial selection of dogs responsible for the array of different dog phenotypes that we see today? Refer to the pre-lab article called: “Variants in Three Genes Account for Most Dog Coat Differences.”
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a) Describe how genotype data for an array of SNPs can be used in a GWAS.
b) How is artificial selection of dogs responsible for the array of different dog
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- The gene controlling ABO blood type and the gene underlying nail-patella syndrome are said to show linkage. What does that mean in terms of their relative locations in the genome? What does it mean in terms of how the two traits are inherited with respect to each other?The 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?Which members of the pedigree could have been carriers, and which might have been the source of the mutation?
- Pedigree Analysis Is a Basic Method in Human Genetics Using the pedigree provided, answer the following questions. a. Is the proband male or female? b. Is the grandfather of the proband affected? c. How many siblings does the proband have, and where is he or she in the birth order?You learned in the chapter that an STR locus is a locus where alleles differ in the number of copies of a short, tandemly repeated DNA sequence. PCR is used to determine the number of alleles present, as shown by the size of the DNA fragment amplified. In the Figure below are the results of PCR analysis for STR alleles at a locus where the repeat unit length is 9 bp, and alleles are known that have 5 to 11 copies of the repeat. Given the STR alleles present in the adults, state whether each of the four juveniles could or could not be an off-spring of those two adults. Explain your answers.Why is it more efficient to perform a test cross with a homozygous recessive donor than a homozygous dominant donor? How could the same information still he found with a homozygous dominant donor?
- 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?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?The results of a paternity test are shown in the table below. Numbers indicate the number of short tandem repeats for loci tested. Whos the daddy? How sure are you?
