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True or false?
The most common form of Down's Syndrome results from a spontaneous, somatic, gene mutation.
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- Most genetic mutations are deleterious, producing negative effects. True or false?Gene mutations can be classified in two major ways:(1) hereditary or germline mutations that are inherited from a parent and are present throughout a person’s life in virtually every cell in the body.(2) acquired or somatic mutations that occur at some time during a person’s life and are present only in certain cells, not in every cell in the body.If there is no family history of a particular disease but a child has the disease then it may have arisen due to a(n) ________ mutation early during development. A) acquired B) inherited C) silent D) transitionsuggest reasons for why DNA mutations are not all phenotypic.
- This is a blank question. Thank you in advance, Bloom Syndrome Bloom syndrome is a rare genetic disorder. It is characterized by short stature and a long narrow face with prominent nose and ears. There is also increased sensitivity to light. People who have the disorder often develop rashes on their face, forearms, and hands when they have been exposed to the sun. In addition, these people often suffer from chronic obstructive pulmonary disorder (COPD) and have a higher chance of developing cancer. The cause of this genetic disorder is a mutation in the BLM gene located on chromosome 15. The immediate effect of this mutation is that there is a defect in the functioning of the DNA helicase enzyme. What would be the effect of this mutation on DNA replication? What stage of the cell cycle would be most affected?Define a Point mutation and give an example. What is sickle cell anemia and what causes it. What is nondisjunction? How does nondisjunction cause disorders? NUMER YOUR ANSWERSAn individual carries a disease-causing point mutation. Briefly describe four methods that can be used to identify this mutation.
- define the term name as Missense mutationsIn some inherited cases, the normal prion protein can convert spontaneously to the abnormal form, but at a slow rate. True or FalseAngelica 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 1/21
- Which of these describes the symptoms of the disease(s) caused by mutations in KMT2D ? Select all that apply. Papules Joint hypermobility Sleep disturbance Progeria Dental abnormalities ScoliosisSome people have a genetic predisposition for developing priondiseases. Examples are described in Table 25.6. In the case ofGerstmann-Straüssler-Scheinker disease, the age of onset istypically 30–50 years, and the duration of the disease (whichleads to death) is about 5 years. Suggest a possible explanationwhy someone can live for a relatively long time withoutsymptoms and then succumb to the disease in a relativelyshort time.True or false Oncogenes are gene that are normally not found in a cell and must be introduced into the DNA by some mechanism, such as a viral infection.