Which of the following has been directly associated with deficiencies in several genes, especially SNRNP? Leber's hereditary optic neuropathy Myotonic dystrophy Angelman syndrome Prader-Willi syndrome Fragile X syndrome
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Which of the following has been directly associated with deficiencies in several genes, especially SNRNP?
- Leber's hereditary optic neuropathy
- Myotonic dystrophy
- Angelman syndrome
- Prader-Willi syndrome
- Fragile X syndrome
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- What is the genetic basis and phenotype for each of the following disorders (use proper genetic notation)? a. Edwards syndrome b. Patau syndrome c. Klinefelter syndrome d. Down syndromeA region on chromosome 6 has been linked to schizophrenia, but researchers have not found a specific gene associated with this disease. What steps would be necessary to locate the gene?Hurler syndrome is due to a mutation in a gene that encodes aprotein called α-l-iduronidase. This protein functions withinlysosomes as an enzyme that breaks down mucopolysaccharides(a type of polysaccharide that has many acidic groups attached).When this enzyme is defective, excessive amounts of the mucopolysaccharides dermatan sulfate and heparin sulfate accumulatewithin the lysosomes, especially in liver cells and connectivetissue cells. This accumulation leads to symptoms such as anenlarged liver and spleen, bone abnormalities, corneal clouding,heart problems, and severe neurological problems. The pedigreebelow contains three members affected with Hurler syndrome,indicated with black symbols. Based on this pedigree, does thissyndrome appear to follow autosomal recessive, autosomaldominant, X-linked recessive, or X-linked dominant inheritance?Explain your reasoning.
- To further understand PSEN2 mutations the age of onset of Alzheimer's Disease and AB 42/40 ration is investigated for different mutations in PSEN2. Table 3 - Age at onset of FAD and measured Aß 42/40 ratios for each patient. PSEN2 Mutation Age at onset (Years) AB 42/40 ratio PSEN2 WT Select one: True False N/A 1 1229F M223L F237P M233V F237L N410Y 33 7.3+ 0.7 46 35 3.81 32 4.5 0.2 0.4 14.7 52 31 2.2 ± 1.2 1.8 20.76 + Question 18) Very early onset PSEN2 mutations have a more severe impact on the AB 42/40 ratios than mutations that cause onset at a later age?Angelica just learned that her paternal uncle, Aaron, passed away from hypertrophic cardiomyopathy (autosomal dominant). Angelica’s father was killed in a duty as a young man, and therefore, his status is unknown. Her two sisters, Eliza and Peggy, have been tested for the known causative mutation in the family and do not have it. What is the chance that Angelica has the familial mutation for HCM? Group of answer choices 1/33 1/10 1/21Glioblastoma multiforme (GBM) is the most commonand aggressive form of brain cancer in humans.Without any treatment, the mean survival rate is aboutthree months. Even with standard treatments such assurgical resection, radiation, and chemotherapy, themean survival rate is between seven and 14 months.GBM tumors differ in their spectrum of geneticchanges, and these changes may influence the effectof particular treatments. Answer the following questions about the relevance of particular mutations toparticular treatments and outcomes.a. Biopsies of about 20% of GBMs show the expression of a certain mutational variant of the EGFR(epidermal growth factor receptor) protein calledEGFRvIII. The same cancerous cells of theseGBMs also show the expression of normal, wildtype EGFR. Is the gene encoding EGFR a tumorsuppressor gene or a proto-oncogene?b. It is very difficult to induce cells expressingEGFRvIII to undergo apoptosis. If you werea radiologist treating a patient with a GBMthat expresses…
- Discuss at least three of the disorders of focusing. What is the complete epigenetic origin which should include the genetic/biological origin and the environment influence related to these disorders of focusing.Ultraviolet light causes thymine dimers to form in DNA. Some individuals are genetically incapable of repairing these dimers at "normal" rates. Such individuals are likely to suffer from Oxeroderma pigmentosum phenylketonuria muscular dystrophy Severe Combined Immunodeficiency (SCID) pancreatic cancerA couple has had a child born with neurofibromatosis. They come to your genetic counseling office for help. After taking an extensive family history, you determine that there is no history of this disease on either side of the family. The couple wants to have another child and wants to be advised about the risks of that child having neurofibromatosis. What advice do you give them?
- Why do you think it has been so difficult to identify genes underlying schizophrenia? Rachel asked to see a genetic counselor because she was concerned about developing schizophrenia. Her mother and maternal grandmother both had schizophrenia and were institutionalized for most of their adult lives. Rachels three maternal aunts are all in their 60s and have not shown any signs of this disease. Rachels father is alive and healthy, and his family history does not suggest any behavioral or genetic conditions. The genetic counselor discussed the multifactorial nature of schizophrenia and explained that many candidate genes have been identified that may be mutated in individuals with the condition. However, a genetic test is not available for presymptomatic testing. The counselor explained that based on Rachels family history and her relatedness to individuals who have schizophrenia, her risk of developing it is approximately 13%. If an altered gene is in the family and her mother carries the gene, Rachel has a 50% chance of inheriting it.Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?Jekyll-Hyde Afflicted Spider Curse Afflicted Jekyll-Hyde/Spider Curse I O Human 1 II 1 III 4. Jekyll-Hyde disease is characterized by transformation into an unfeeling, aggressive, alter ego at night. While the "Spider Curse" is a disease that causes affected individuals to grow extra arms and extra eyes during a full moon. The genes responsible for these diseases sort independently and both traits run in one family. Based on the above pedigree answer the following questions: What is the mode of inheritance for Jekyll-Hyde disease? (Hint: look at individuals III-1 & III-3) O a. Autosomal Dominant O b. Autosomal Recessive O c. X-Linked Dominant O d. X-linked Recessive What evidence supports your hypothesis? Give at least 2 pieces of information from the pedigree that support your answer to 3a. Answer: 2. 3. 2. 2.