Biology Human Genetics Paper

Biology Human Genetics

(Chapters 1-4) Chapter 1 1. Distinguish between genetics and heredity. 2. Do inherited traits only include physical traits that we can see? If not, what are some other types of inherited traits? 3. What is bioethics? 4. Explain how DNA carries and maintains information. 5. How do DNA, genes, chromosomes, and genomes relate to one another? 6. Explain how a gene can exist in more than one form. 7. Distinguish between Mendelian and multifactorial traits. 8. Explain how gene expression underlies formation of the human body. 9. Distinguish between genotype and phenotype. 10. Distinguish between dominant and recessive alleles. 11. How can comparing DNA sequences reveal evolutionary relationships? 12. What is DNA profiling? What are some uses of DNA profiling? 13. What types of information can be gained from precision medicine initiatives? 14. Distinguish genetic modification from traditional breeding. 15. Describe the role of exome sequencing in solving medical mysteries. 16. What is metagenomics? 17. Name some social issues that arise from technologies based on genetics

. Chapter 2 18. Why is it important to understand the functions of cell? 19. About how many different types of cells are found in the human body? 20. How do diploid cells differ from haploid cells? 21. Distinguish between a somatic cell and a germ cell. 22. Distinguish between prokaryote and eukaryote cells. 23. What are the major chemical constituents (macromolecules) found in cells? 24. What are organelles? Describe the function (role) of the following organelles: 25. In addition to serving as the outer covering of the cell, what are some other functions of the plasma membrane? 26. What is the cytoskeleton? What role does it play in the cell? 27. What are mitosis and apoptosis? Why must they be in balance? 28. Describe the phases of the cell cycle and of mitosis. 29. How is the cell cycle controlled? What happens when the cell cycle becomes uncontrolled? 30. Describe stem cells. How do stem cells differ from progenitor cells? 31. What happens during cell differentiation? 32. Distinguish among embryonic stem cells, induced pluripotent stem cells, and adult stem cells. 33. What are some applications of stem cells in health care? 34. What is the human microbiome? 35. Do all humans have the same microbiome? What factors affect the microbiome? 36. How does the microbiome affect our health? Chapter 3 37. Describe where sperm develop. 38. Describe where oocytes develop. 39. Distinguish between haploid and diploid.

40. Why is it important that meiosis produces haploid gametes instead of diploid gametes? 41. How are mitosis and meiosis similar? How are mitosis and meiosis different? 42. Siblings (except identical twins) are genetically different because they inherit different combinations of genes from their parents. How does meiosis contribute to this genetic diversity? 43. Describe the development of sperm. 44. Describe the development of eggs (ova). 45. Describe how the timetables of spermatogenesis and oogenesis differ. 46. Explain how paternal and maternal age effect conditions differ. 47. Describe the events of fertilization. 48. Distinguish among the zygote, morula, and blastocyst. 49. What happens to the inner cell mass? 50. Explain how some genes are silenced as development proceeds. 51. Name the three primary germ layers (tissues) of a gastrula and describe what they will ultimately become. 52. Describe the supportive structures that enable an embryo to develop. 53. What is the difference between monozygotic and dizygotic twins? Explain how these twin types arise. 54. Distinguish the embryo from the fetus. 55. Does the mother or father determine the sex of the offspring? What is the SRY gene? 56. Approximately what fraction of fertilized eggs survives to birth? What is one reason that the fraction is so low? 57. What is the critical period? 58. Explain why most birth defects that develop during the embryonic period are more severe than problems that arise during fetal development. 59. Define teratogen and give an example of one. 60. Explain how starvation before birth sets the stage for later disease. 61. How do recessive and dominant conditions differ in terms of the human life cycle? 62. The text mentions progeria syndromes that cause individuals to age much faster than normal. What is the most common cause for these types of aging syndromes? 63. Describe some genes that are known to influence aging. Chapter 4 64. List four ways that Mendelian (single-gene) diseases differ from other types of diseases. 65. Who was Gregor Mendel? 66. Why were peas ideal for studying genetics? 67. How did Mendel deduce that units of inheritance for height segregate, then combine at random with those from the opposite gamete at fertilization? 68. Distinguish between a homozygote and a heterozygote. 69. What are the genotypic and phenotypic ratios of a monohybrid cross? 70. What is the dominant seed color allele if a plant that is true-breeding for green seeds is crossed with a plant that is true-breeding for yellow seeds and all of the offspring have yellow seeds?

71. What is the law of segregation? If an individual has the genotype Ss, what are the possible genotypes of the gametes with respect to this gene? 72. What is a test cross? 73. State two factors that can influence single gene inheritance patterns. 74. Distinguish the inheritance patterns of autosomal dominant traits versus autosomal recessive traits. 75. What is consanguinity? Why is an autosomal recessive disorder more likely to result from consanguinity? 76. The presence of freckles (F) is dominant to the absence of freckles (f). Using Punnett squares, determine the phenotypic and genotypic ratios that you would expect from the following crosses: a. FF x ff b. Ff x ff c. ff x ff d. Ff x Ff 77. Having dimples is dominant to not having dimples. Mary has dimples but her father does not. Mary has a child with James, who does not have dimples. What is the probability that this child will have dimples? 78. With regards to dominant and recessively inherited disorders: Which usually involves a loss of function and which usually involves a gain in function? 79. Describe Mendel’s law of Independent assortment. 80. Explain how meiosis allows for independent assortment. 81. Explain how Mendel demonstrated that genes on different chromosomes independently assort. 82. Brown eyes (B) are dominant to blue eyes (b). The presence of freckles (F) is dominant to the absence of freckles (f). What is the probability that two people who are heterozygous for both traits will have a child that has blue eyes and no freckles? 83. What is a pedigree? How are pedigrees used? 84. Explain how the inheritance pattern of a dominant trait might differ from that of a recessive trait within a family. 85. Explain how exome and genome sequencing can be used in a “parents-child trio” to distinguish autosomal recessive inheritance from a new dominant mutation affecting the child?