Trichothiodystrophy

Numerous diseases are caused by problems in DNA replication or repair. For example, Bloom Syndrome is caused by a mutation in one of the helicase enzymes involved in DNA replication. Select one of the enzymes involved in DNA replication or repair and find a disease related to a mutation in this enzyme (a few of these diseases are mentioned in your textbook). Then, in at least 3 pages, address the following topics: What is the specific mutation? What are the symptoms of the disease? How was the relationship between the mutation and the disease discovered? How does this mutation impact DNA replication and repair and how is this different from normal DNA replication? How does this mutation impact transcription and translation and how is this different from normal transcription and translation? How does this problem in DNA replication lead to one symptom of the disease? Give two examples of how genetic engineering technology could be used to learn more about, detect earlier, or treat this disease? Be sure to include a description of what genetic engineering is. You should write this Assignment as an integrated paper that addresses all the questions. This Assignment should not be done in question and answer format. Be sure to use appropriate headings for each section of the paper. Basic Writing Expectations: Your report should be a minimum of 3 pages, not counting the title or reference pages. Include a title page, double space, font size 10 or 12 in APA format. Include a highly developed viewpoint/thesis, purpose, and exceptional content. Demonstrate superior organization: use logic. Make certain that your paper is free of grammar and spelling errors. Avoid plagiarism. Use APA style for all citations. Always include an introduction and conclusion.

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