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iPad Application: Gene Screen Name_________________________________ Period _________ Genes and Inheritance 1. How many cells does the human body have approximately? 2. What is inside of every cell? 3. What type of cell is the exception to question #2? 4. What is inside of the nucleus of body cells? 5. What is each chromosome made of? 6. What are the four building blocks of DNA? 7. What is the double helix formed from? 8. What is a gene? 9. What does the genetic code determine? 10. What is a mutation? 11. What can a mutation cause? 12. Why do mutations occur in offspring? 13. How many chromosomes do sperm and egg cells contain? 14. What is a zygote? 15. What does each offspring inherit form their parents? 16. Inheriting one intact “dominant copy” usually results in what? 17. When does a recessive trait or disease occur? 18. What is gene “carrier”? 19. Does the “carrier” have the trait or disease? 20. How are intact genes and mutated genes represented in a Punnett square? 21. What does a Punnett square show? 22. In the Punnett square example, what is the percentage of offspring have the recessive condition? Population Genetics 23. 24. 25. 26. 27. 28. 29. 30. 31. In genetics, what is a population? Why did much of the genetic variation in historic times arise? What were the results of the mutations? What is the “founder effect”? What happens over generations? What happens in regions where people are born, reproduce and die within a small area? What people are examples of the founder effect? Where did these people come from and where did they settle? What two genetic traits and diseases was a result of inbreeding? 32. What other group has been found to have several genetic diseases based on multiple founder effects? 33. What has happened in recent generations in the Jewish population? Recessive Genetic Diseases 34. Select one of the recessive genetic diseases from the list and list the symptoms, prevalence, genetics diagnosis and treatment. Genetic Screening 35. What does genetic screening involve? 36. What does the screen determine? 37. How is a gene mutation able to skip a generation? 38. When is genetic screening recommended? 39. What is the purpose for the screening? 40. What screening programs are among Ashkenazi Jewish populations? 41. How much has the incidence been reduced of TSD? 42. What is another example of screening done in Cyprus, Greece, Spain and North America? Genetic Traits 43. What are the genetic trait possibilities for hairline for two Carrier parents? Genetic Diseases 44. Select a cross of your choosing and give the results of the genotype and phenotype probabilities? Mom/Dad/Offspring Blank Punnett Square 45. What is a Punnett square? 46. What are the genotypes for the following? Unaffected: Carrier: Affected: Jewish Genetic Diseases 47. Select a disease and indicated the prevalence in Jewish Communities verse the General Population. 48. Give an overview for the disease selected in question 47? 49. What is the genetic basis and prevalence for this chosen disease? 50. What are the diagnosis, screening and treatment options for this disease?