Briefly answer the question: Exome sequencing to identify a mutation that could cause a particular set of symptoms in a patient can reveal another genetic condition that has not yet been detected. Under what circumstances, if any, do you think patients should receive such "secondary findings"?
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Briefly answer the question:
Exome sequencing to identify a mutation that could cause a particular set of symptoms in a patient can reveal another genetic condition that has not yet been detected. Under what circumstances, if any, do you think patients should receive such "secondary findings"?
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- Describe the main technique for amplifying a segment of DNA (like the one you suspect is involved in Lee’s cancer) from a complex mixture of genomic DNA. Remember that the entire human genome sequence is known. (Hint: This is a technique that is commonly used by laboratories that do genetic testing and various other applications of molecular biology.)It has been suggested that it would make the study of human diseases easier if cloned transgenic animals were produced that carried faulty versions of human genes (e.g., the gene that causes cystic fibrosis). a. Why would such animals be useful in medical research? : b. What ethical questions are raised by the creation of such transgenic animals?The accompanying photo shows a sequencing gel from the original study that first sequenced the cystic fibrosis gene (J. R. Riordan et al. 1989. Science 245:1066–1073). From the photo, determine the sequence of the normal copy of the gene and the sequence of the mutated copy of the gene. Identify the location of the mutation that causes cystic fibrosis. (Hint: The CF mutation is a 3-bp deletion.)
- Give a schematic diagram of how we can Treatment Down's syndrome by using gene therapy? Please answer at your own words,please..Although 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?In a clinical context, doctors are evaluating a therapy for a new patient (say patient B) that they have reasons to believe might develop a cancer similar to another patient they treated successfully (patient A). They know that the severity of the cancer is mainly associated with mutations in a specific gene (BRCAI). Suggest a technique that can be used to rapidly assess the similarity between the genetic panerns of patients A and B, without the need to sequence the entire gene, and briefly describe it. A team of scientists are interested in the amplification of a specific DNA fragment in a large plasmid of about 10000 bps. (0) (11) The sequence the scientists are interested in is 5'-CATTGATTATTG[...JATCAATTACGGG-3" 3-GTAACTAATAAG[...]TAGTTAATGCCC-5* Where [...] indicates a longer 100bps sequence. Provide two possible primers that the scientists should use to address their need, if they want to be sure they specifically address this region in the entire plasmid. Briefly explain the…
- If human genetics is leading toward preventive medicine, give the most significant expectations regarding gene therapy (please explain in detail).Within genomics, genetic engineering and gene therapy are topics that are comparable. What do they have in common and what sets them apart?Describe the mechanistic steps through which gene therapy might be used to cure a disease that is caused by mutations in "Gene D". A potential patient is reluctant to undergo this treatment, because they remember hearing about adverse incidents from gene therapy studies conducted decades ago. What relevant details might you tell them, in order to inform them on this topic?.
- DNA hypermethylation (an excess of methylation) is associated with many neurological disorders, including a potential role in Alzheimer's disease. a. When comparing individuals with and without Alzheimer's, which of the following 'omics techniques (exome sequencing, whole genome sequencing, transcriptomics, or proteomics) would you expect to be the most informative if your goal is to locate potentially causative methylation differences? Briefly justify your answer. b. The pdCas9-Tet1-CD enzyme (Xu et al Cell Discov. 2016) fuses an enzyme that can carry out cytosine demethylation to a mutant version of the CRISPR/Cas9 enzyme that localizes to DNA using a guide RNA in exactly the same manner as we discussed in class for standard Cas9, except that this version does not cut the genome. This demethylase enzyme can then act to remove DNA methylation proximal to where it is stably bound. Imagine that you have identified a gene that is hypermethylated specifically in patients with Alzheimer's…Describe the outcome of a chain-terminator sequencing procedure in which (a) too few primers are present or (b) an excess of primers is present.A couple with a child affected with DBA undergoes in vitro fertilization (IVF) and genetic testing of the resulting embryos to ensure that the embryos will not have DBA. However, they also want the embryos screened to ensure that the one implanted can serve as a suitable donor for their existing child. Their plan is to have stem cells from the umbilical cord of the new baby transplanted to their existing child with DBA, thereby curing the condition. What are the ethical pros and cons of this situation?