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To determine: The type of mutation which causes Huntington disease.
Introduction: Accumulation of misfolded proteins in the brain can lead to brain cell death and can cause several neurodegenerative disorders. Huntington disease (HD) is a neurodegenerative disorder which is inherited as an autosomal dominant trait. Cognition inability, emotional problems, and uncontrolled movements are the symptoms of HD.
To determine: The result of this mutation that results in neurodegeneration.
Introduction: Accumulation of misfolded proteins in the brain can lead to brain cell death and can cause several neurodegenerative disorders. Huntington disease (HD) is a neurodegenerative disorder which is inherited as an autosomal dominant trait. Cognition inability, emotional problems, and uncontrolled movements are the symptoms of HD.
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Chapter 18 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
- what would be the likely effect of a mutation that prevented the formation of memory cells?arrow_forwardNeurofibromatosis type 1 (NF1) is an inherited is an inheritent dominant disorder. The phenotype usually involves the production of many skin neurofibromas. Answer the following questions about the disorder: a) Are the NF1 neurofibromatosis-causing mutations that are inherited by affected children from affected parents likely to be loss-of-function or gain-of-function mutations? b) Neurofibromin, the protein product of NF1, is associated with the Ras protein. Ras is involved in the transduction of extracellular signals from growth factors. The active form of Ras is complexed with GTP; the inactive form is complexed with GDP. Would the wild-type neurofibromin protein favor the formation of Ras-GTP or Ras-GDP? c) Which of the following events in a normal cell from an individual inheriting a neurofibromatosis-causing allele could cause the descendents of that cell to turn into a neurofibroma? i. A second point mutation in…arrow_forwardA 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?arrow_forward
Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning