• Description of Phenylketonuria • Explanation of what causes Phenylketonuria • Explanation of the relationship between mutations and genetic diseases in general.
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• Description of Phenylketonuria
• Explanation of what causes Phenylketonuria
• Explanation of the relationship between mutations and genetic
diseases in general.
(PLEASE ANSWER ALL 3 PLEASEEE)
Step by step
Solved in 2 steps
- The essay should focus on the following discussion points: The normal functions of the p53 gene. Known mutations of the gene. The impact of mutations on the structure of the protein encoded by the gene. The impact of mutations on the function of the protein. Current therapeutic interventions that aim to address the impact of mutations on gene functionExplain in depth the correlation between the defective gene and the abnormal protein that is produced. Be sure to mention the process involved in protein production, whether or not those process(s) have occurred, and their end products.What might be your professional recommendations for a person who is at risk due to genetics to prevent metabolic syndrome? What might be your professional recommendations for treatment of the syndrome after diagnosis?
- 1.) Chronic Myelogenous Leukemia (CML)-Briefly describe the disease and provide the most common symptoms/features of the disease.-Describe the cause/s of the disease.-Using a diagram, outline the processes of the best DNA technology tools/techniques involved in the diagnosis of the disease.-Present the best therapeutic DNA technology tool/technique for the disease by describing the tool and discussing the procedure.-Identify the challenges or issues that a scientist may face for using the DNA technology diagnostic and therapeutic tools and applications you have presented.• Explanation of what can be learned from a genetic test • Explanation of what can be learned from a genetic test about Phenylketonuria • Discussion of what prospective parents need to know about getting tested for Phenylketonuria mutations PLEASE PLEASEEEE ANSWER ALLLIdentify the type of mutation present in the CDS and discuss the implications on the protein.
- Discuss the advantages and disadvantages of gene therapy. A limitedamount of funding is available for gene therapy research. Makea priority list of the three top diseases for which you would fundresearch. Discuss your choices.The effects of protein on an entire organism is described ina) Phenotypic functionb) Cellular functionc) Molecular functiond) Structural genomicsDiscuss some potential issues regarding gene editing to correct genetic defects.
- Compare the severity of DNA mutations that produce the following changes in mRNA codons:(a) GCU to GCC (b) ACU to AUUJames sees an online ad for an at-home genetic test that promises to deliver personalized nutritional advice based on an individuals genetic profile. The company can test for genetic variations, the advertisement states, that predispose individuals to developing health conditions such as heart disease and bone loss or that affect how they metabolize certain foods. If such variations are detected, the company can provide specific nutritional advice that will help counteract their effects. Always keen to take any steps available to ensure the best possible health for their family, James and his wife (Sally) decide that they both should be tested, as should their 11-year-old daughter (Patty). They order three kits. Once the kits arrive, the family members use cotton swabs to take cell samples from their cheeks and place the swabs in individually labeled envelopes. They mail the envelopes back to the company, along with completed questionnaires regarding their diets. Four weeks later, they receive three individual reports detailing the test results and providing extensive guidelines about what foods they should eat. Among the results is the finding that James has a particular allele in a gene that may make him vulnerable to the presence of free radicals in his cells. The report suggests that he increase his intake of antioxidants, such as vitamins C and E, and highlights a number of foods that are rich in those vitamins. The tests also show that Sally has several genetic variations that indicate that she may be at risk for elevated bone loss. The report recommends that she try to minimize this possibility by increasing her intake of calcium and vitamin D and lists a number of foods she could emphasize in her diet. Finally, the report shows that Patty has a genetic variation that may mean that she has a lowered ability to metabolize saturated fats, putting her at risk for developing heart disease. The report points to ways in which she can lower her intake of saturated fats and lists various types of foods that would be beneficial for her. A number of companies now offer genetic-testing services, promising to deliver personalized nutritional or other advice based on peoples genetic profiles. Generally, these tests fall into two different categories, with individual companies offering unique combinations of the two. The first type of test detects alleles of known genes that encode proteins that play an established role in, for example, counteracting free radicals in cells or in building up bone. In such cases, it is easy to see why individuals carrying alleles that may encode proteins with lower levels of activity may be more vulnerable to free radicals or more susceptible to bone loss. A second type of test examines genetic variations that may have no clear biological significance (i.e., they may not occur within a gene or may not have a detectable effect on gene activity) but have been shown to have a statistically significant correlation with a disease or a particular physiological condition. For example, a variation may frequently be detected in individuals with heart disease even though the reason for the correlation between the variation and the disease may be entirely mysterious. Do James and Sally have any guarantees that the tests and recommendations are scientifically valid?James sees an online ad for an at-home genetic test that promises to deliver personalized nutritional advice based on an individuals genetic profile. The company can test for genetic variations, the advertisement states, that predispose individuals to developing health conditions such as heart disease and bone loss or that affect how they metabolize certain foods. If such variations are detected, the company can provide specific nutritional advice that will help counteract their effects. Always keen to take any steps available to ensure the best possible health for their family, James and his wife (Sally) decide that they both should be tested, as should their 11-year-old daughter (Patty). They order three kits. Once the kits arrive, the family members use cotton swabs to take cell samples from their cheeks and place the swabs in individually labeled envelopes. They mail the envelopes back to the company, along with completed questionnaires regarding their diets. Four weeks later, they receive three individual reports detailing the test results and providing extensive guidelines about what foods they should eat. Among the results is the finding that James has a particular allele in a gene that may make him vulnerable to the presence of free radicals in his cells. The report suggests that he increase his intake of antioxidants, such as vitamins C and E, and highlights a number of foods that are rich in those vitamins. The tests also show that Sally has several genetic variations that indicate that she may be at risk for elevated bone loss. The report recommends that she try to minimize this possibility by increasing her intake of calcium and vitamin D and lists a number of foods she could emphasize in her diet. Finally, the report shows that Patty has a genetic variation that may mean that she has a lowered ability to metabolize saturated fats, putting her at risk for developing heart disease. The report points to ways in which she can lower her intake of saturated fats and lists various types of foods that would be beneficial for her. A number of companies now offer genetic-testing services, promising to deliver personalized nutritional or other advice based on peoples genetic profiles. Generally, these tests fall into two different categories, with individual companies offering unique combinations of the two. The first type of test detects alleles of known genes that encode proteins that play an established role in, for example, counteracting free radicals in cells or in building up bone. In such cases, it is easy to see why individuals carrying alleles that may encode proteins with lower levels of activity may be more vulnerable to free radicals or more susceptible to bone loss. A second type of test examines genetic variations that may have no clear biological significance (i.e., they may not occur within a gene or may not have a detectable effect on gene activity) but have been shown to have a statistically significant correlation with a disease or a particular physiological condition. For example, a variation may frequently be detected in individuals with heart disease even though the reason for the correlation between the variation and the disease may be entirely mysterious. Do you think that companies should be allowed to market such tests directly to the public, or do you believe that only a physician should be able to order them?