Genetic mutations can provide insights into the mechanisms of complex cellular or developmental processes. How might your analysis of a genetic mutation be different depending on whether a particular mutation is recessive or dominant?
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Genetic mutations can provide insights into the mechanisms of complex cellular or developmental processes. How might your analysis of a genetic mutation be different depending on whether a particular mutation is recessive or dominant?
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- 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) transitionMutations in DNA may or may not result in a change in the phenotype of an organism. In which of the following situations will a mutation appear in the phenotype of an individual? The mutation occurs in an organism which is past reproductive age The genetic code for protein synthesis has not been altered in a gamete producing cell The mutation occurs in a body cell of the organism, resulting in cancer O The mutation results in a change in the amino acid sequence of the protein in a gamete producing cellHuntington disease (HD) is an inherited neurodegenerative disorder characterized by gradual, irreversible impairment of psychological, motor, and cognitive functions. Symptoms typically appear in middle age, but onset can occur at almost any age, and the course of the disease can range from 15 to 20 years. The molecular basis of HD is becoming better understood, and the genetic mutation has been traced to a gene that encodes a large protein of unknown function. In individuals who will not develop HD, a region of the gene that encodes the N-terminus of this protein has a sequence of CAG codons (for glutamine) repeated 6 to 39 times in succession. In individuals with adult-onset HD, this codon (3 nucleotides) is typically repeated 40 to 55 times In those with childhood-onset HD, it is repeated more than 70 times. *codon: refers to the 3 nucleotides that code for amino acid. A small portion of the coding sequence of the HD gene is given below. The nucleotide sequence of the DNA is…
- examine the process of gene expression. Include the following: Explain the regulation of gene expression in eukaryotic cells. Discuss mechanisms by which gene expression may be altered. How do these alterations induce cancer-causing mutations in cell DNA? Explain how cancer is formed. Describe genetic changes found in cancer cells and how these changes lead to alterations in cell behavior. Determine whether proteome data can be utilized in genetic disorder diagnosis. Relate the Human Genome Project data to the analysis of cancer genes. Relates the Human Genome Project's utility in pharmacogenomics and personalized medicine to diagnose and treat cancerCancer-causing mutations in genes can have different effects on the protein products expressed. a) What type of mutation would be dominant in the development of cancer? Why? b) What type of mutation would be expressed as a recessive trait in the development of cancer? Why? c) Based upon your answers to parts (a) and (b), how would you treat these situations using a gene therapy approach?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?
- One unexpected result of the sequencing of the human genome was the finding that mutations in a single gene can be responsible for multiple distinct disorders. For example, mutations in the RET gene can cause two different types of multiple endocrine neoplasias, familial medullary thyroid carcinoma, and Hirschsprung disease. How do you think mutations in a single gene can have such diverse effects?What are mutations and what causes them? Are mutations helpful, harmful, or both? ExplainOne unexpected result of the sequencing of the human genome was the finding that mutations in a single gene can be responsible for multiple distinct disorders. How do you think mutations in a single gene can have such diverse effects?
- Researchers have identified a gene in humans that (when mutated) causes tremors and unstable walking due to neurological problems. This disorder is inherited in an autosomal recessive manner, and the mutant allele isknown to result from a loss-of-function mutation. The same gene hasbeen found in mice, although a mutant mouse version has not beendiscovered. To develop an effective drug therapy to treat this disorderin humans, it would be experimentally useful to have a mouse model.In other words, it would be desirable to develop a strain of mice thatcarry the mutant allele in the homozygous condition. How would youdevelop such a strain?Many aspects of gene function can be nicely explained with the one-gene-one-enzyme hypothesis, which states that a gene controls the production of an enzyme. Which of the following findings about gene expression, though, requires an expansion of this simple concept? Choose an answer below: Non-enzyme proteins are made from genes too. Some genes code for RNA molecules only. Enzymes composed of different polypeptides are coded for by more than one gene. a and c, but not b a, b, and cA controversial issue, closely related to cloning, that has caused a lot of debate is the use of embryonic stem cells. One possible application of these cells is that they may be able to supply replacement tissues to treat diseases such as Parkinson's disease, diabetes, paralysis due to spinal cord injuries, and other degenerative diseases. The word "embryonic", has caused fierce opposition to this type of research because embryos are destroyed when the stem cells are removed. Questions that have surfaced in this debate include: When a cell nucleus is transferred to another cell, have we created life? Does a stem cell have the same status as a human? What should be done with the embryos that are leftover at in vitro fertilization (IVF), clinics? Advocates argue that the medical benefits of stem cell research would be enormous. Opponents argue that life begins at conception and thus this type of research is abortion. Based on what you have read, explain why you are for or against stem…