Human Genetics: Concepts and Applications

Human Genetics: Concepts and Applications

Case Study

From your course textbook In the Family: A Case Workbook to Accompany Human Genetics: Concepts and Applications, read the assigned case study in the following chapter:

“Beyond Mendel’s Laws”

“Long QT Syndrome”

In a 3page Microsoft Word document, create a work sheet by answering the Questions for Research and Discussion provided for each case study.

Cite any sources in APA format. The case study questions are below

10.Discuss how incomplete penetrance, variable expressivity, pleiotropy, and genetic heterogeneity can affect the severity of a disease in a family.

11. A person can lower risk of preventable types of cardiovascular disease by exercising regularly and following a diet low in saturated fats and simple carbohydrates and high in fruits and vegetables. Why are these approaches ineffective against long QT syndrome?

12. Explain how the molecular bases of the various forms of long QT syndrome make genetic heterogeneity very likely

19. List the evidence that Peter’s synesthesia is not the result of his LSD use.

20. Discuss how genome-wide association studies and brain imaging have contributed to our understanding of synesthesia.

21. Suggest an experiment that can distinguish whether synesthesia is inherited or a learned behavior.

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Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.

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