Human Heredity Principles And Issues 11th Edition by Michael Cummings – Test Bank

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Human Heredity Principles And Issues 11th Edition by Michael Cummings – Test Bank

Chapter_02_Cells_and_Cell_Division

 

True / False

 

1. ​Mitotic divisions reduce the number of chromosomes found in daughter cells.

  a. True
  b. False

 

ANSWER:   False
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-1 – Summarize the three phases of the cell cycle: interphase, mitosis, and cytokinesis.

 

2. ​Cytokinesis usually occurs just prior to mitosis.

  a. True
  b. False

 

ANSWER:   False
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-1 – Summarize the three phases of the cell cycle: interphase, mitosis, and cytokinesis.

 

3. Autosomal chromosome pairs are identical, whereas the sex chromosome pair in males is not.​

  a. True
  b. False

 

ANSWER:   True
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-3 Cell Structure Reflects Function
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-3-3 – Differentiate between the major cellular organelles and state their functions.

 

4. Crossing over is partially responsible for our genetic diversity.​

  a. True
  b. False

 

ANSWER:   True
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-6-3 – Explain the two processes of meiosis that create new combinations of genes.

 

5. ​Random assortment occurs between chromatids of homologous chromosome pairs.

  a. True
  b. False

 

ANSWER:   False
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-6-3 – Explain the two processes of meiosis that create new combinations of genes.

 

6. A polar body, once formed, has no further function and dies.​

  a. True
  b. False

 

ANSWER:   True
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-7 Formation of Gametes
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-7-1 – Define the term gamete and outline the sequence of events leading to the formation of both male and female gametes.

 

7. One treatment for Gaucher disease is enzyme replacement therapy.

  a. True
  b. False

 

ANSWER:   True
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-1 Cellular Links to Genetic Disease
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-1-1 – Describe an example of how cell structure and function are influenced by genetic information.

 

8. Primary oocytes and spermatogonia are both haploid cells.​

  a. True
  b. False

 

ANSWER:   False
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-7 Formation of Gametes
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-7-1 – Define the term gamete and outline the sequence of events leading to the formation of both male and female gametes.

 

9. The four macromolecules making up our cells allow for the same structure and function across all cells in the body.​

  a. True
  b. False

 

ANSWER:   False
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-2 The Chemistry of Cells
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.

 

10. Mitosis is a process that is unique to humans.​

  a. True
  b. False

 

ANSWER:   False
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-5 Mitosis Is Essential for Growth and Cell Replacement
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-5-1 – Discuss the importance of mitosis for growth and cell replacement and identify possible consequences when cell cycle regulation is interrupted.

 

Multiple Choice

 

11. The process of meiosis results in ____.​

  a. ​the production of four identical cells
  b. ​no change in the chromosome number from parental cells
  c. ​a doubling of the chromosome number
  d. ​a reduction in the chromosome number
  e. ​two diploid cells

 

ANSWER:   d
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-6-2 – Illustrate the stages of meiosis I and meiosis II and describe what occurs at each stage.

 

12. In the cell cycle, the G1 phase represents ____.​

  a. ​the stage of DNA synthesis
  b. ​splitting of the chromosomes into chromatids
  c. ​a period of growth
  d. ​the stage of actual cell division
  e. ​the stage just prior to meiosis

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-2 – List the three stages of interphase and explain what occurs at each stage.

 

13. Ribosomes are organelles that are involved in ____.​

  a. ​plasma membrane selectivity
  b. cellular energy production​
  c. ​protein synthesis
  d. ​transport of materials
  e. ​DNA replication

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-3 Cell Structure Reflects Function
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-3-3 – Differentiate between the major cellular organelles and state their functions.

 

14. Which genetic diseases involve defects in DNA repair that affect cell division?​

  a. ​Gaucher disease and Werner syndrome
  b. ​Kearns-Sayre syndrome and progeria
  c. ​progeria and Gaucher disease
  d. ​Gaucher disease and cystic fibrosis
  e. ​progeria and Werner syndrome

 

ANSWER:   e
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-5 Mitosis Is Essential for Growth and Cell Replacement
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-5-1 – Discuss the importance of mitosis for growth and cell replacement and identify possible consequences when cell cycle regulation is interrupted.

 

15. Autosomes represent ____.​

  a. ​all chromosomes including the sex chromosomes
  b. ​the half of the chromosomes inherited from one parent
  c. ​all chromosomes other than the sex chromosomes
  d. ​chromosome pairs with unlike members
  e. ​those chromosomes found only in gametes

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-3 Cell Structure Reflects Function
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-3-3 – Differentiate between the major cellular organelles and state their functions.

 

16. During meiosis in an organism where 2n = 8, how many chromatids will be present in a cell at the beginning of meiosis II?​

  a. ​2
  b. ​4
  c. ​6
  d. ​8
  e. ​12

 

ANSWER:   d
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-6-2 – Illustrate the stages of meiosis I and meiosis II and describe what occurs at each stage.

 

17. The Hayflick limit describes ____.​

  a. ​the size limit to which a cell can grow
  b. ​the number of divisions a cultured cell can undergo
  c. ​the largest number of chromosomes an organism can possess
  d. ​the most cells an organism can have
  e. ​how rapidly DNA replication can occur

 

ANSWER:   b
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-5 Mitosis Is Essential for Growth and Cell Replacement
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-5-1 – Discuss the importance of mitosis for growth and cell replacement and identify possible consequences when cell cycle regulation is interrupted.

 

18. In meiosis, homologous chromosomes separate in ____.​

  a. ​metaphase I
  b. ​anaphase I
  c. ​metaphase II
  d. ​anaphase II
  e. ​telophase

 

ANSWER:   b
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-3 – Outline the four stages of mitosis and describe the characteristics of each stage.

 

19. A cell that cannot form spindle fibers cannot ____.​

  a. ​engage in energy production
  b. ​exchange gases across the plasma membrane
  c. ​perform mitosis nor meiosis
  d. ​perform DNA replication
  e. ​engage in protein synthesis

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell | 2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-3 – Outline the four stages of mitosis and describe the characteristics of each stage.

 

20. A cell in G0 state ____.​

  a. ​is actively growing before cell division begins
  b. ​has a cleavage furrow and the cytoplasm is beginning to divide
  c. ​is actively replicating chromosomes
  d. ​is in cytokinesis
  e. ​has entered a resting stage and is not actively dividing

 

ANSWER:   e
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-1 – Summarize the three phases of the cell cycle: interphase, mitosis, and cytokinesis.

 

21. A centromere is least likely to ____.​

  a. ​divide in anaphase of mitosis
  b. ​connect sister chromatids
  c. ​attach chromosomes to spindle fibers
  d. ​cross over during prophase I of meiosis
  e. ​be a component of DNA

 

ANSWER:   d
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell | 2-6 Cell Division by Meiosis; The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-3 – Outline the four stages of mitosis and describe the characteristics of each stage.

 

22. The underlying problem in Gaucher disease is ____.​

  a. ​the spontaneous breakdown of red blood cells
  b. ​the accumulation of fat in white blood cells
  c. ​the breakdown of the myelin sheath around nerves
  d. ​a hypertrophied spleen
  e. ​the lack of critical liver enzymes

 

ANSWER:   b
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-1 Cellular Links to Genetic Disease
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.

 

23. ​Which biomolecule is most associated with the structure and function of cell membranes?

  a. ​Polysaccharides
  b. ​steroids
  c. ​DNA
  d. ​phospholipids
  e. ​ATP

 

ANSWER:   d
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-2 The Chemistry of Cells
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.

 

24. Proteins function ____.​

  a. ​as energy carriers
  b. ​as the ‘backbone’ of the DNA molecule
  c. ​as component parts of enzymes
  d. ​in energy storage within the cell nucleus
  e. ​in transmission of genetic information

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-2 The Chemistry of Cells
2-3 Cell Structure Reflects Function
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.
HUHE.CUMM.16.2-3-3 – Differentiate between the major cellular organelles and state their functions.

 

25. Ribosomes are most closely associated with ____.​

  a. ​the Golgi complex
  b. ​lysosomes
  c. ​mitochondria
  d. ​smooth endoplasmic reticulum
  e. ​the cytoplasm and rough endoplasmic reticulum

 

ANSWER:   e
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-3 Cell Structure Reflects Function
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-3-3 – Differentiate between the major cellular organelles and state their functions.

 

26. In meiosis, cells become haploid ____.​

  a. ​at the end of telophase I
  b. ​during metaphase I
  c. ​during anaphase I
  d. ​at the beginning of metaphase II
  e. ​at the end of prophase II

 

ANSWER:   a
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-6-2 – Illustrate the stages of meiosis I and meiosis II and describe what occurs at each stage.

 

27. In meiosis of oogenesis, how many mature eggs result?​

  a. ​one
  b. two​
  c. ​three
  d. ​four
  e. ​five

 

ANSWER:   a
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-7 Formation of Gametes
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-7-1 – Define the term gamete and outline the sequence of events leading to the formation of both male and female gametes.

 

28. During spermatogenesis in meiosis II, ____ form(s).​

  a. ​primary spermatocytes
  b. ​secondary spermatocytes
  c. ​spermatids
  d. ​mature sperm
  e. ​a zygote

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-7 Formation of Gametes
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-7-1 – Define the term gamete and outline the sequence of events leading to the formation of both male and female gametes.

 

29. A rare genetic disorder called Gaucher disease may strike as many as one in 450 people of ____ descent.​

  a. ​Middle Eastern
  b. Western European ​
  c. African American
  d. ​British
  e. ​Eastern European

 

ANSWER:   e
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-1 Cellular Links to Genetic Disease
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-1-1 – Describe an example of how cell structure and function are influenced by genetic information.

 

30. Macromolecules including sugars, glycogen, and starches composed of sugar monomers linked and cross-linked together are known as ____.​

  a. carbohydrates​
  b. ​lipids
  c. ​proteins
  d. ​fatty acids
  e. ​nucleic acids

 

ANSWER:   a
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-2 The Chemistry of Cells
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.

 

31. Carbohydrates ____.​

  a. ​act as energy sources for cells
  b. ​include fats and oils
  c. ​are made of nucleic acids
  d. ​act as protein builders
  e. ​are also called steroids

 

ANSWER:   a
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-2 The Chemistry of Cells
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.

 

32. Large cellular polymers assembled by chemically linking monomers together are called ____.​

  a. ​carbohydrates
  b. ​lipids
  c. ​proteins
  d. ​nucleic acids
  e. ​macromolecules

 

ANSWER:   e
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-2 The Chemistry of Cells
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.

 

Completion

 

33. There are ____________________ autosomes present in a human sperm cell.​

ANSWER:   22

twenty-two

twenty two​

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-7 Formation of Gametes
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-7-1 – Define the term gamete and outline the sequence of events leading to the formation of both male and female gametes.
HUHE.CUMM.16.2-7-2 – Establish the significance of meiosis in the formation of gametes.

 

34. The chromosomal structure that anchors the spindle fiber to the chromosome is known as the ____________________. ​

ANSWER:   centromere​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-3 – Outline the four stages of mitosis and describe the characteristics of each stage.

 

35. In mitosis, chromatids separate and move to the center of the cell during ____________________.​

ANSWER:   metaphase​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-3 – Outline the four stages of mitosis and describe the characteristics of each stage.

 

36. In meiosis, sister chromatids separate and move to opposite poles of the spindle during ____________________.​

ANSWER:   anaphase II​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-6-2 – Illustrate the stages of meiosis I and meiosis II and describe what occurs at each stage.

 

37. In cell division, toward the end of nuclear division, the cytoplasm divides by a process called ____________________ to produce two identical cells.​

ANSWER:   cytokinesis​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-1 – Summarize the three phases of the cell cycle: interphase, mitosis, and cytokinesis.

 

38. The only cytoplasmic organelles in animal cells aside from nuclei that contain DNA are ____________________.

ANSWER:   mitochondria​
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-3 Cell Structure Reflects Function
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-3-3 – Differentiate between the major cellular organelles and state their functions.

 

39. The series of flattened sacs and associated vesicles in the cytoplasm of a cell is the ____________________.​

ANSWER:   Golgi complex​
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-3 Cell Structure Reflects Function
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-3-3 – Differentiate between the major cellular organelles and state their functions.

 

40. Cells are largely constructed from four classes of large molecules called ____________________.​

ANSWER:   macromolecules​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-2 The Chemistry of Cells
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.

 

41. The condition in which each chromosome is represented twice as a member of a homologous pair is called ____________________.​

ANSWER:   diploid

2n

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-6-2 – Illustrate the stages of meiosis I and meiosis II and describe what occurs at each stage.

 

42. ____________________ is a symptom of Gaucher disease (indicate any one).​

ANSWER:   Brittle bones

Fatigue

Painful abdomen

Tender abdomen

Enlarged spleen

Enlarged liver

DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-1 Cellular Links to Genetic Disease
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-1-1 – Describe an example of how cell structure and function are influenced by genetic information.

 

43. ____________________ is used to diagnose and treat genetic disorders.​

ANSWER:   Genetic testing

Genetic counseling

DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-1 Cellular Links to Genetic Disease
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-1-1 – Describe an example of how cell structure and function are influenced by genetic information.

 

44. Lipids are a class of cellular macromolecules that are ____________________ in water.​

ANSWER:   insoluble​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-2 The Chemistry of Cells
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.

 

45. In both progeria and Werner syndrome, cells are switched from a growth to a maintenance mode, halting ____________________.​

ANSWER:   divisions

cell divisions

DIFFICULTY:   Bloom’s: Remember
REFERENCES:   2-5 Mitosis Is Essential for Growth and Cell Replacement
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-5-1 – Discuss the importance of mitosis for growth and cell replacement and identify possible consequences when cell cycle regulation is interrupted.

 

46. Identical gene loci are located on ____________________.​

ANSWER:   homologous chromosomes

homologues

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-6-2 – Illustrate the stages of meiosis I and meiosis II and describe what occurs at each stage.

 

47. The two types of nucleic acids are ____________________ and ____________________.​

ANSWER:   DNA; RNA

RNA; DNA

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-2 The Chemistry of Cells
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.

 

48. There are two cellular domains: the ____________________ and the ____________________.​

ANSWER:   plasma membrane; cytoplasm

cytoplasm; plasma membrane

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-3 Cell Structure Reflects Function
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-3-2 – List the two cellular domains and give the major characteristics of each.

 

49. The three parts of interphase, in order, are ____________________, ____________________, and ____________________.​

ANSWER:   G1; S; G2​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16. 2-4-2: – List the three stages of interphase and explain what occurs at each stage.

 

50. Sister chromatids are joined by a common centromere and each carries identical ____________________.​

ANSWER:   genetic information

genes

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-3 – Outline the four stages of mitosis and describe the characteristics of each stage.

 

Essay

 

51. Describe the two ways in which meiosis produces new combinations of genes.​

ANSWER:   Random assortment of maternal and paternal chromosomes during cell division is the first way that meiosis produces new combinations of genes. In each pair of chromosomes, one copy was inherited from each parent. Random combinations of parental chromosomes arise in metaphase I when the maternal and paternal members of each pair line up at random with respect to all the other pairs. In other words, the arrangement of any chromosomal pair can be maternal:paternal or paternal:maternal. As a result, cells produced in meiosis I are much more likely to receive a combination of maternal and paternal chromosomes than they are to receive a complete set of maternal chromosomes or a complete set of paternal chromosomes.

Crossing over is the second way meiosis generates new combinations of genes. This process involves the physical exchange of parts between non-sister chromatids. Members of a chromosome pair carry identical genes but may carry different versions of those genes (alleles). For example, a chromosome may carry a gene for eye color. One copy of the chromosome may carry an allele for blue eyes, while the other carries an allele for brown eyes. The exchange of chromosome parts during crossing over creates new combinations of alleles inherited from each parent.​

DIFFICULTY:   Bloom’s: Analyze
REFERENCES:   2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-6-3 – Explain the two processes of meiosis that create new combinations of genes.

 

52. Compare and contrast the events and results of oogenesis and spermatogenesis.​

ANSWER:   In males, the production of sperm, known as spermatogenesis, occurs in the testes. Cells called spermatogonia line the tubules of the testes and divide by mitosis from puberty until death, producing daughter cells called spermatocytes. Spermatocytes undergo meiosis, and the four haploid cells that result are called spermatids. Each spermatid develops into a mature sperm. The tubules within the testes contain many spermatocytes, and large numbers of sperm are always in production.

In females, the production of gametes is called oogenesis and takes place in the ovaries.

Cells in the ovary known as oogonia begin mitosis early in embryonic development and finish a few weeks later. During meiosis I, one cell, destined to become the female gamete, receives about 95% of the cytoplasm and is called a secondary oocyte. The larger cell becomes the functional gamete (the ovum) and the nonfunctional, smaller cells are known as a polar bodies. If the secondary oocyte is fertilized, meiosis II is completed quickly and the haploid nuclei of the ovum and sperm fuse to produce a diploid zygote.​

DIFFICULTY:   Bloom’s: Analyze
REFERENCES:   2-7 Formation of Gametes
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-7-1 – Define the term gamete and outline the sequence of events leading to the formation of both male and female gametes.

 

53. Should the cost of treatment for a genetic disorder be an important consideration for insurance companies when deciding whether or not to cover the treatment? Justify your reasoning.​

ANSWER:   Answers will vary. One argument may be that insurance companies have to make decisions based on the best use of their available resources and that it would not be ethical, for example, to spend $1,000,000 a year for any one patient’s treatment when it might be possible to help hundreds or thousands of people with that same money.

Alternatively, one could argue that a dollar value cannot be placed on life. The cost of treatment for a person should not, in any way, come down to money. The purpose of medical insurance is to take care of people, no matter what the cost. By accepting premium payments from their clients, insurance companies are agreeing to cover the patient and that it should not matter how much that treatment costs.

DIFFICULTY:   Bloom’s: Evaluate
REFERENCES:   2-1 Cellular Links to Genetic Disease
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-1-1 – Describe an example of how cell structure and function are influenced by genetic information.

 

54. List the four macromolecules that make up cells and give a brief description of the structure and function of each.​

ANSWER:   Carbohydrates include small, water-soluble sugars and large polymers made of sugars. In the cell, carbohydrates have three important functions: They are structural components of cells; they act as energy sources for the cell; and, in combination with proteins on the surface, they give cells a molecular identity.

Lipids are a structurally and functionally diverse class of biological molecules partially defined by their insolubility in water. Lipids have many functions: They are structural components of membranes, some serve as energy reserves, while others act as hormones and vitamins. Lipids are classified into three major groups: fats and oils, phospholipids, and steroids. The phospholipids play important roles in the structure and function of the cell membrane.

 

Proteins are the most functionally diverse class of macromolecules. Proteins are polymers, made up of one or more chains of subunits, called amino acids. The varied structures of proteins are reflected in their diversity of functions.

Nucleic acids are polymers made from nucleotide subunits. Nucleotides themselves have important functions in energy transfer, but nucleic acids are the storehouses of genetic information in the cell. The information is encoded in the nucleotide sequence.

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-2 The Chemistry of Cells
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-2-1 – List the four classes of macromolecules that make up cells and explain how structure and function are interrelated in each.

 

55. Explain the structure and function of the cell nucleus. Include the terms nuclear envelope, nucleoli, chromatin, chromosomes, autosomes, and sex chromosomes.​

ANSWER:   The largest organelle is the nucleus. It is enclosed by a double membrane called the nuclear envelope. Within the nucleus, dense regions known as nucleoli synthesize ribosomes. Dark strands of chromatin are seen throughout the nucleus. As a cell prepares to divide, the chromatin condenses to form the chromosomes. In humans, there are 23 pairs of chromosomes (46 chromosomes) in most cells  Certain cells, such as sperm and eggs, carry only one copy of each chromosome and have 23 unpaired chromosomes. Human males have one pair of chromosomes that are not completely matched. Members of this pair are known as sex chromosomes. There are two types of human sex chromosomes: X and Y. Males carry an X chromosome and a Y chromosome, and females carry two X chromosomes. All other chromosomes are known as autosomes.​
DIFFICULTY:   Bloom’s: Evaluate
REFERENCES:   2-3 Cell Structure Reflects Function
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-3-3 – Differentiate between the major cellular organelles and state their functions.

 

56. Briefly summarize the four phases of mitosis and cytokinesis.​

ANSWER:   Prophase: Chromosomes become visible as threadlike structures. As they continue to condense, they are seen as double structures, with sister chromatids joined at a single centromere.

Metaphase: Chromosomes become aligned at equator of cell.

Anaphase: Centromeres divide, and chromosomes move toward opposite poles.

Telophase: Chromosomes decondense; nuclear membrane forms.

Cytokinesis–Cleavage furrow gradually tightens and the cell eventually divides in two, distributing organelles to the daughter cells.

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-3 – Outline the four stages of mitosis and describe the characteristics of each stage.

 

57. Define interphase and describe its three stages.​

ANSWER:   Before cells can divide, they must grow to the size of the parental cell. Growth takes place during the first stage of interphase, the G1 stage. G1 begins immediately after division; during this stage, many cytoplasmic components, including organelles, membranes, and ribosomes, are made. G1 is followed by the S (synthesis) phase, during which a copy of each chromosome is made. A period known as G2 takes place before the cell is ready to begin a new round of division.​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
LEARNING OBJECTIVES:   HUHE.CUMM.16. 2-4-2 – List the three stages of interphase and explain what occurs at each stage.

 

58. Some cells retain the capacity to divide throughout their life cycle, whereas others do not divide in adulthood. Give one example of each type.​

ANSWER:   Cells in bone marrow continually move through the cell cycle, producing about 2 million red blood cells each second.

Skin cells constantly divide to replace dead cells that are sloughed off the surface of the body.

Many cells in the nervous system leave the cell cycle, enter G0, and do not divide in adulthood.​

DIFFICULTY:   Bloom’s: Apply
REFERENCES:   2-5 Mitosis Is Essential for Growth and Cell Replacement
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-5-1 – Discuss the importance of mitosis for growth and cell replacement and identify possible consequences when cell cycle regulation is interrupted.

 

59. Explain the major difference between daughter cells formed by mitosis and those formed by meiosis. What occurs when two daughter cells formed during meiosis fuse?​

ANSWER:   In mitosis, each daughter cell receives two copies of each chromosome. Cells with two copies of each chromosome are diploid (2n) and have 46 chromosomes. In meiosis, members of a chromosome pair separate from each other, and each daughter cell receives a haploid (n) set of 23 chromosomes. These haploid cells form gametes (sperm and egg). Fusion of two haploid gametes in fertilization restores the chromosome number to the diploid number of 46, providing a full set of genetic information to the fertilized egg.​
DIFFICULTY:   Bloom’s: Analyze
REFERENCES:   2-4 The Cell Cycle Describes the Life History of a Cell
2-6 Cell Division by Meiosis: The Basis of Sex
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-4-3 – Outline the four stages of mitosis and describe the characteristics of each stage.
HUHE.CUMM.16.2-6-1 – Compare and contrast mitosis and meiosis.

 

Figure 2-1​

 

60. All cells are fundamentally similar at a structural level. Using the accompanying diagram of a generalized human cell, name as many of the numbered labels as you can to illustrate this idea.

ANSWER:   ​All cells have a plasma membrane, cytoplasm, membranous organelles, and a membrane-bound nucleus (see labeling below). All cells’ shapes, internal organizations, and functions are under genetic control.
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   2-3 Cell Structure Reflects Function
PREFACE NAME:   Figure 2-1
LEARNING OBJECTIVES:   HUHE.CUMM.16.2-3-1 – Label a generalized human cell.

 

Chapter_04_Pedigree_Analysis_in_Human_Genetics

 

True / False

 

1. ​Human traits are controlled only by the genetic material found in the 46 chromosomes.

  a. True
  b. False

 

ANSWER:   False
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-7 Non-Mendelian Inheritance: Maternal Mitochondrial Genes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-7-2 – Explain the unique pattern of inheritance for mitochondrial DNA genes.

 

2. ​Phenotypic variation can occur in traits controlled by the same allele.

  a. True
  b. False

 

ANSWER:   True
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-9 Many Factors Can Affect the Outcome of Pedigree Analysis
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-9-1 – Recognize the factors that can skew the outcome of pedigree analysis.

 

3. ​A pedigree is always able to provide enough information to rule out all but one possible pattern of inheritance.

  a. True
  b. False

 

ANSWER:   False
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-2 Pedigree Analysis Is a Basic Method in Human Genetics
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-2-2 – Apply the general steps in pedigree construction and identify the objectives and limitations of pedigree analysis.

 

4. ​The frequency of heterozygotes for cystic fibrosis shows ethnic variations.

  a. True
  b. False

 

ANSWER:   True
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-3 Autosomal Recessive Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-3-2 – Identify a major autosomal recessive genetic disorder and list its symptoms.

 

5. ​Duchenne muscular dystrophy and Becker’s muscular dystrophy are caused by different mutations in the same X-linked gene.

  a. True
  b. False

 

ANSWER:   True
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-3 – Identify X-linked recessive genetic disorders and list the major symptoms of each.

 

6. ​Abraham Lincoln’s son, Robert, showed no signs of Marfan syndrome.

  a. True
  b. False

 

ANSWER:   True
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-1 Pedigrees and Dead Presidents
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-1-1 – Describe the symptoms of Marfan syndrome and debate the circumstances under which genetic testing should be performed to uncover information about similar conditions.

 

7. ​Most of those affected with an autosomal dominant genetic disorder are homozygous for that trait.

  a. True
  b. False

 

ANSWER:   False
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-4 Autosomal Dominant Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-4-1 – Describe the symptoms of Marfan syndrome and debate the circumstances under which genetic testing should be performed to uncover information about similar conditions.

 

8. ​A blood test cannot determine if a person is a carrier of Tay-Sachs disease because the mutant allele is undetectable.

  a. True
  b. False

 

ANSWER:   False
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-9 Many Factors Can Affect the Outcome of Pedigree Analysis
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-9-1 – Recognize the factors that can skew the outcome of pedigree analysis.

 

9. ​Males never give an X chromosome to any of their sons.

  a. True
  b. False

 

ANSWER:   True
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-2 – Describe the distinguishing characteristics of both X-linked dominant and X-linked recessive inheritance.

 

10. ​If a pedigree analysis suggests that an autosomal or X-linked inheritance pattern is equally likely, then additional genetic testing is needed to identify the pattern of inheritance.

  a. True
  b. False

 

ANSWER:   True
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-2 Pedigree Analysis Is a Basic Method in Human Genetics
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-2-2 – Apply the general steps in pedigree construction and identify the objectives and limitations of pedigree analysis.

 

Multiple Choice

 

11. ​The chance of a child having albinism when both of his parents are heterozygous for the disorder is ____ percent.

  a. ​0
  b. ​25
  c. ​33
  d. ​50
  e. ​75

 

ANSWER:   b
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-3 Autosomal Recessive Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-3-1 – Describe the distinguishing characteristics of autosomal recessive inheritance.

 

12. ​Almost all cases of cystic fibrosis, a(n) ____ genetic disorder, are the result of mating between two unaffected parents.

  a. ​mitochondrial
  b. ​autosomal dominant
  c. ​autosomal recessive
  d. ​X-linked dominant
  e. ​X-linked recessive

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-3 Autosomal Recessive Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-3-2 – Identify a major autosomal recessive genetic disorder and list its symptoms.

 

13. ​In autosomal dominant inheritance, ____.

  a. ​the trait often skips generations
  b. ​about one-fourth of the progeny in a pedigree will show the trait
  c. ​two affected individuals may have unaffected children
  d. ​males are more affected than females
  e. ​the aa phenotype will be affected

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-4 Autosomal Dominant Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-4-1 – Describe the symptoms of Marfan syndrome and debate the circumstances under which genetic testing should be performed to uncover information about similar conditions.

 

14. If a man expresses an X-linked recessive trait, ____.​

  a. ​all of his brothers will also express it
  b. ​his father transmitted the trait to him
  c. ​his father carried the trait
  d. ​all of his sisters will also express it
  e. ​his mother was heterozygous or homozygous for the trait

 

ANSWER:   e
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-2 – Describe the distinguishing characteristics of both X-linked dominant and X-linked recessive inheritance.

 

15. ​Y-linked traits are ____.

  a. ​known as homozygous traits
  b. ​known to skip generations in males
  c. ​carried only by males and transmitted only to males
  d. ​carried only by females, but are never expressed
  e. ​passed on to only 50% of female progeny

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-6 Paternal Inheritance: Genes on the Y Chromosome
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-6-1 – Explain the unique pattern of inheritance for genes on the Y chromosome.

 

16. ​If two phenotypically normal parents have six children, and two daughters and two sons have the same genetic disorder, that disorder is most likely to be ____.

  a. ​hemophilia
  b. ​cystic fibrosis
  c. ​Marfan syndrome
  d. ​muscular dystrophy
  e. ​color blindness

 

ANSWER:   b
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-3 Autosomal Recessive Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-3-2 – Identify a major autosomal recessive genetic disorder and list its symptoms.

 

17. Camptodactyly causes ____.

  a. ​bent, immobile little fingers
  b. ​breathing difficulties
  c. ​loose joints
  d. ​muscle deterioration
  e. ​near-sightedness

 

ANSWER:   a
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-9 Many Factors Can Affect the Outcome of Pedigree Analysis
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-9-2 – Apply the concepts of penetrance and expressivity to the pedigree analyses of inheritance patterns in autosomal dominant traits.

 

18. ​Approximately ____ Y-linked genes have been discovered.

  a. ​10
  b. ​20
  c. ​60
  d. ​80
  e. ​120

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-6 Paternal Inheritance: Genes on the Y Chromosome
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-6-1 – Explain the unique pattern of inheritance for genes on the Y chromosome.

 

19. ​The gene responsible for Marfan syndrome encodes a protein associated with ____.

  a. ​heart muscle
  b. ​connective tissue
  c. fat tissue​
  d. ​red blood cells
  e. ​nervous tissue

 

ANSWER:   b
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-4 Autosomal Dominant Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-4-2 – Identify a major autosomal dominant genetic disorder and list its symptoms.

 

20. ​One goal of pedigree analysis is to determine ____.

  a. ​what diseases a family will display
  b. ​if two people are related
  c. ​gene loci
  d. ​whether a gene has a dominant or recessive pattern of inheritance
  e. ​what treatment a person should undergo

 

ANSWER:   d
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-2 Pedigree Analysis Is a Basic Method in Human Genetics
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-2-2 – Apply the general steps in pedigree construction and identify the objectives and limitations of pedigree analysis.

 

21. ​If a pedigree of several generations shows only females affected by a particular trait, it cannot be a(n) ____ trait.

  a. ​autosomal recessive
  b. ​autosomal dominant
  c. ​Y-linked
  d. ​X-linked recessive
  e. ​X-linked dominant

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-6 Paternal Inheritance: Genes on the Y Chromosome
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-6-1 – Explain the unique pattern of inheritance for genes on the Y chromosome.

 

22. ​One characteristic of an autosomal dominant trait is that ____.

  a. ​50% of individuals with two affected parents will be affected
  b. ​if two affected individuals are homozygous, the risk of having an affected child is 1:4
  c. ​heterozygous fathers will always have affected daughters
  d. ​every affected individual has at least one affected parent
  e. ​mothers always pass the trait on to their sons

 

ANSWER:   d
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-4 Autosomal Dominant Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-4-1 – Describe the symptoms of Marfan syndrome and debate the circumstances under which genetic testing should be performed to uncover information about similar conditions.

 

23. ​The X and Y chromosomes ____.

  a. ​are responsible for autosomal recessive inheritance
  b. ​will lead to color-blindness in all carriers
  c. ​are found paired with all 22 autosomal chromosomes
  d. ​are responsible for albinism
  e. ​play major roles in determining the sex of an individual

 

ANSWER:   e
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-1 – Compare and contrast sex-linked and autosomal inheritance.

 

24. ​Common recessive alleles present in a family can result in a pedigree that looks like ____ inheritance.

  a. ​X-linked recessive
  b. ​X-linked dominant
  c. ​autosomal dominant
  d. ​autosomal recessive
  e. ​Y-linked

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-9 Many Factors Can Affect the Outcome of Pedigree Analysis
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-9-3 – Explain how a common recessive allele in a population can sometimes yield a pedigree that appears to indicate autosomal dominant inheritance for that trait.

 

25. ​The phenotype of ____ does not develop until adulthood.

  a. ​muscular dystrophy
  b. ​Marfan syndrome
  c. ​cystic fibrosis
  d. ​hemophilia
  e. ​Huntington’s disease

 

ANSWER:   e
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-9 Many Factors Can Affect the Outcome of Pedigree Analysis
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-9-1 – Recognize the factors that can skew the outcome of pedigree analysis.

 

26. ​Mitochondria are transmitted from mothers to ____.

  a. ​all of their daughters through the cytoplasm of the egg
  b. ​all of their sons through the cytoplasm of the egg
  c. ​all of their children through the cytoplasm of the egg
  d. ​50% of their children through the X chromosome
  e. ​50% of daughters through the X chromosome

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-7 Non-Mendelian Inheritance: Maternal Mitochondrial Genes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-7-1 – Describe the evolution and cellular functions of mitochondria.

 

27. ​The initial circumstance that led some to believe that Abraham Lincoln had Marfan syndrome was that ____ had the disease.

  a. ​one of Lincoln’s descendants
  b. ​Lincoln’s sister
  c. ​a descendent of Lincoln’s great-great-grandfather
  d. ​DNA analysis on Lincoln’s skull determined that he
  e. ​Photographs of Lincoln provided physical evidence that he

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-1 Pedigrees and Dead Presidents
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-1-1 – Describe the symptoms of Marfan syndrome and debate the circumstances under which genetic testing should be performed to uncover information about similar conditions.

 

28. ​There are ____ basic patterns of Mendelian inheritance.

  a. ​three
  b. ​four
  c. ​five
  d. ​six
  e. ​seven

 

ANSWER:   c
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-2 Pedigree Analysis Is a Basic Method in Human Genetics
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-2-1 – Recognize the five basic patterns of Mendelian inheritance.

 

29. ​Hemophilia is characterized by ____.

  a. ​defects in the mechanism of blood clotting
  b. ​an extremely low blood iron level
  c. ​jaundice of the eyes and skin
  d. ​muscular weakness and atrophy
  e. ​breathing difficulties

 

ANSWER:   a
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-3 – Identify X-linked recessive genetic disorders and list the major symptoms of each.

 

30. ​A trait shows ____ if the phenotype of that trait is present in less than 100% of those with the related genotype.

  a. ​autosomal recessive inheritance
  b. ​autosomal dominant inheritance
  c. ​incomplete dominance
  d. ​incomplete penetrance
  e. ​incomplete expressivity

 

ANSWER:   d
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-9 Many Factors Can Affect the Outcome of Pedigree Analysis
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-9-2 – Apply the concepts of penetrance and expressivity to the pedigree analyses of inheritance patterns in autosomal dominant traits.

 

Completion

 

31. ​The basic method of genetic analysis in humans requires a(n) ____________________ of several generations.

ANSWER:   family history

pedigree​

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-2 Pedigree Analysis Is a Basic Method in Human Genetics
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-2-2 – Apply the general steps in pedigree construction and identify the objectives and limitations of pedigree analysis.

 

32. ​Color blindness is an inherited disorder passed from ____________________ to child.

ANSWER:   ​mother
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-3 – Identify X-linked recessive genetic disorders and list the major symptoms of each.

 

33. ​If both parents are homozygous for a disease-causing recessive gene, ____________________ of their children will be affected.

ANSWER:   all

100%​

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-3 Autosomal Recessive Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-3-1 – Describe the distinguishing characteristics of autosomal recessive inheritance.

 

34. ​The probability that a disease phenotype will appear when a disease-related genotype is present is called ____________________.

ANSWER:   penetrance​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-9 Many Factors Can Affect the Outcome of Pedigree Analysis
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-9-1 – Recognize the factors that can skew the outcome of pedigree analysis.

 

35. ​Mucus production that blocks ducts of certain glands and lung passages is a symptom of ____________________.

ANSWER:   ​cystic fibrosis
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-3 Autosomal Recessive Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-3-2 – Identify a major autosomal recessive genetic disorder and list its symptoms.

 

36. ​A mutation in the gene that codes for a connective tissue protein called fibrillin causes ____________________.

ANSWER:   ​Marfan syndrome
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-4 Autosomal Dominant Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-4-2 – Identify a major autosomal dominant genetic disorder and list its symptoms.

 

37. ​Genetic diseases transmitted only by a mother to both sons and daughters result from ____________________ genes.

ANSWER:   mitochondrial
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-7 Non-Mendelian Inheritance: Maternal Mitochondrial Genes
LEARNING OBJECTIVES:   HUHE.CUMM.16. 4-7-2 – Explain the unique pattern of inheritance for mitochondrial DNA genes.

 

38. ​When affected males produce all affected daughters and no affected sons, the pattern of inheritance is likely to be ____________________.

ANSWER:   ​X-linked dominant
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-2 – Describe the distinguishing characteristics of both X-linked dominant and X-linked recessive inheritance.

 

39. ​The most common forms of color blindness result in the inability to properly perceive the colors ____________________ and ____________________.

ANSWER:   red; green

green; red​

DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-3 – Identify X-linked recessive genetic disorders and list the major symptoms of each.

 

40. ​Mitochondrial gene defects most often affect the ____________________ and the ____________________.

ANSWER:   muscles; nervous system

nervous system; muscles​

DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-7 Non-Mendelian Inheritance: Maternal Mitochondrial Genes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-7-1 – Describe the evolution and cellular functions of mitochondria.

 

41. ​Individuals with Marfan syndrome experience an eyesight problem called ____________________.

ANSWER:   nearsightedness​
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-1 Pedigrees and Dead Presidents
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-1-1 – Describe the symptoms of Marfan syndrome and debate the circumstances under which genetic testing should be performed to uncover information about similar conditions.

 

42. OMIM is an acronym that stands for ____________.

ANSWER:   Online Mendelian Inheritance in Man
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-8 An Online Catalog of Human Genetic Traits Is Available
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-8-1 – Discuss the purpose of OMIM, the Internet site developed and maintained by Johns Hopkins University.

 

43. ​The variable phenotypic expression shown in camptodactyly results from the interaction of ____________________ and ________________factors.

ANSWER:   genetic; nongenetic

nongenetic; genetic

genetic; environmental

environmental; genetic

DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-9 Many Factors Can Affect the Outcome of Pedigree Analysis
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-9-2 – Apply the concepts of penetrance and expressivity to the pedigree analyses of inheritance patterns in autosomal dominant traits.

 

44. ​If an autosomal ____________________ allele is very common in a population, there is a chance that it will enter the pedigree from outside the family.

ANSWER:   recessive​
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-9 Many Factors Can Affect the Outcome of Pedigree Analysis
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-9-3 – Explain how a common recessive allele in a population can sometimes yield a pedigree that appears to indicate autosomal dominant inheritance for that trait.

 

45. ​If a man expresses an X-linked recessive trait, his ____________________ was either homozygous or heterozygous for the trait.

ANSWER:   mother​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes.
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-2 – Describe the distinguishing characteristics of both X-linked dominant and X-linked recessive inheritance.

 

46. ​A marriage between two related individuals, such as first cousins, is called ____________________.

ANSWER:   ​consanguinity
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-3 Autosomal Recessive Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-3-1 – Describe the distinguishing characteristics of autosomal recessive inheritance.

 

47. ​Czar Nicholas II of Russia and Queen Victoria’s granddaughter, Alix, were the parents of a son with the genetic disorder affecting the mechanism of blood clotting called ____________________.

ANSWER:   hemophilia​
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-3 – Identify X-linked recessive genetic disorders and list the major symptoms of each.

 

48. ​One goal of pedigree analysis is to discover whether the gene in question is located on an X or a Y chromosome or on a(n) ____________________.

ANSWER:   autosome​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-2 Pedigree Analysis Is a Basic Method in Human Genetics
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-2-2 – Apply the general steps in pedigree construction and identify the objectives and limitations of pedigree analysis.

 

49. ​The phenotype in homozygous dominant individuals affected with an autosomal genetic disorder is often more severe than the ____________________ phenotype.

ANSWER:   ​heterozygous
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-4 Autosomal Dominant Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-4-1 – Describe the symptoms of Marfan syndrome and debate the circumstances under which genetic testing should be performed to uncover information about similar conditions.

 

50. ​Cytoplasmic organelles that convert energy from food molecules in ATP and are transmitted from mothers to all their children through the cytoplasm of the egg are called ____________________.

ANSWER:   mitochondria​
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-7 Non-Mendelian Inheritance: Maternal Mitochondrial Genes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-7-1 – Describe the evolution and cellular functions of mitochondria.

 

Essay

 

51. ​Define the terms penetrance and expressivity and explain how they affect the expression of single gene traits.

ANSWER:   The terms penetrance and expressivity define two different aspects of phenotypic variation. Penetrance is the probability that a disease phenotype will be present when the disease genotype is present. For example, if all individuals carrying the allele for a dominant disorder have the mutant phenotype, the gene has 100% penetrance. If only 25% of those who carry the mutant allele show the mutant phenotype, penetrance is 25%. If the phenotype of a trait is present in less than 100% of those with the related genotype, the trait is said to show incomplete penetrance. Expressivity refers to the range of phenotypes resulting from a given genotype. For example, a genetic disorder called camptodactyly causes an unmovable, bent little finger. All dominant allele homozygotes should have a bent little finger on both hands. However, some of those affected have only one bent finger or normal fingers on both hands, but must carry the mutant allele because it can be passed on to children, each of whom may have some level of expression.​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-9 Many Factors Can Affect the Outcome of Pedigree Analysis
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-9-1 – Recognize the factors that can skew the outcome of pedigree analysis.
HUHE.CUMM.16.4-9-2 – Apply the concepts of penetrance and expressivity to the pedigree analyses of inheritance patterns in autosomal dominant traits.

 

52. ​Lisa has a rare genetic defect that causes acute sun-sensitivity. Her mother has the defect, but her father does not. All of Lisa’s siblings, two brothers and a sister, are also affected. All four siblings are married, but none of their spouses has the mutant gene. Draw a pedigree for this family. Identify and explain the most likely mode of transmission for this disorder.

ANSWER:  

The most likely mode of transmission for this disorder is via maternal mitochondria. Mitochondria carry DNA molecules that encode information for 37 mitochondrial genes. Mitochondria are transmitted from mothers to all their children through the cytoplasm of the egg (sperm do not contribute cytoplasm or mitochondria at fertilization). As a result, genetic disorders caused by mutations in mitochondria are maternally inherited and produce a distinctive pattern of inheritance. All the children of affected females are affected. Affected females will transmit the disorder to all their offspring, but affected males cannot transmit the mutations to any of their children.

DIFFICULTY:   Bloom’s: Analyze
REFERENCES:   4-7 Non-Mendelian Inheritance: Maternal Mitochondrial Genes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-7-2 – Explain the unique pattern of inheritance for mitochondrial DNA genes.

 

53. ​List and explain at least three patterns of inheritance of an autosomal dominant trait.

ANSWER:   In disorders with an autosomal dominant pattern of inheritance, anyone who carries one copy of the allele has the disorder. Unless a new mutation is involved, every affected individual has at least one affected parent. Because most affected individuals are heterozygotes (Aa) with a homozygous recessive (unaffected) spouse (aa), each child has a 50% chance of being affected. Because the trait is autosomal, the numbers of affected males and females are roughly equal. Because most affected individuals are heterozygotes, two affected individuals may have unaffected children. The phenotype in homozygous dominant individuals is often more severe than the heterozygous phenotype.​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-4 Autosomal Dominant Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-4-1 – Describe the symptoms of Marfan syndrome and debate the circumstances under which genetic testing should be performed to uncover information about similar conditions.

 

54. ​Summarize the arguments, both for and against, for the hypothesis that Abraham Lincoln had Marfan syndrome.

ANSWER:   A pedigree published in the 1960s showed that a child diagnosed with Marfan syndrome had an ancestor in common with Abraham Lincoln (the common ancestor was Lincoln’s great-great-grandfather). Marfan syndrome affects the body’s connective tissue and causes visual problems, blood vessel defects, and loose joints. Photographs, written descriptions, and medical reports verify that Lincoln had long arms and legs, was loose-jointed, and wore glasses to correct a visual problem. The combination of common ancestry and Lincoln’s appearance led to speculation that Lincoln had Marfan syndrome. Other experts disagree with that idea, arguing that Lincoln’s long arms and legs and body proportions were well within the normal limits for tall, thin individuals. In addition, although Lincoln wore eyeglasses, he was farsighted, whereas those with the usual form of Marfan syndrome are nearsighted. Lastly, Lincoln showed no outward signs of problems with major blood vessels such as the aorta. Lincoln had only one son, Robert, who lived to adulthood and who showed no signs of Marfan syndrome.​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-1 Pedigrees and Dead Presidents
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-1-1 – Describe the symptoms of Marfan syndrome and debate the circumstances under which genetic testing should be performed to uncover information about similar conditions.

 

55. ​Choose one of the basic patterns of Mendelian inheritance and draw and explain a three-generation family pedigree illustrating that pattern.

ANSWER:   Answers will vary. Here is one example:

This is a pedigree for a rare autosomal recessive trait. In this pedigree, most affected individuals have normal parents, and there is a 75% chance that a child will be unaffected and a 25% chance that a child of heterozygotes will be affected. Sexes are affected in roughly equal numbers.

DIFFICULTY:   Bloom’s: Analyze
REFERENCES:   4-2 Pedigree Analysis Is a Basic Method in Human Genetics
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-2-1 – Recognize the five basic patterns of Mendelian inheritance.
HUHE.CUMM.16.4-2-2 – Apply the general steps in pedigree construction and identify the objectives and limitations of pedigree analysis.

 

56. ​Summarize the usefulness of the online catalog of human genetic traits developed and maintained by researchers at Johns Hopkins University.

ANSWER:   The online catalog makes available information about any of more than 10,000 inherited traits. Each trait can be accessed by using its unique number. Additional links can access information about genes, chromosome locations, DNA sequences, and protein sequences.​
DIFFICULTY:   Bloom’s: Remember
REFERENCES:   4-8 An Online Catalog of Human Genetic Traits Is Available
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-8-1 – Discuss the purpose of OMIM, the Internet site developed and maintained by Johns Hopkins University.

 

57. ​Draw and label a pedigree of Noah and his parents based on the theory that he was affected with an autosomal recessive genetic disorder. Explain your drawing and briefly describe the disorder that Noah might have had.

ANSWER:   Students should (at minimum) draw and label Noah’s parents as an unshaded square and an unshaded circle (indicating that they were both unaffected) connected with two horizontal lines (indicating that they were related). They should then draw Noah with a shaded square and a vertical line connecting him to his parents, indicating him as their offspring.

Albinism is an autosomal recessive genetic disorder characterized by the lack of pigment in the skin, eyes, and hair. This disorder results in very pale skin, pink eye color, and white hair.​

DIFFICULTY:   Bloom’s: Analyze
REFERENCES:   4-2 Pedigree Analysis Is a Basic Method in Human Genetics
4-3 Autosomal Recessive Traits
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-2-2 – Apply the general steps in pedigree construction and identify the objectives and limitations of pedigree analysis.
HUHE.CUMM.16.4-3-1 – Describe the distinguishing characteristics of autosomal recessive inheritance.

 

58. ​Define the term hemizygous and explain how the hemizygous condition relates to sex-linked inheritance.

ANSWER:   ​Because males cannot be homozygous or heterozygous for genes on the X chromosome, males are said to be hemizygous for all genes on the X chromosome. Traits controlled by genes on the X chromosome are defined as dominant or recessive by their phenotype in females. Males give an X chromosome to all daughters and a Y chromosome to all sons. They never give an X chromosome to any of their sons.
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-2 – Describe the distinguishing characteristics of both X-linked dominant and X-linked recessive inheritance.

 

59. ​Explain why color-blindness is much more common in males than in females.

ANSWER:   Color blindness is an X-linked recessive trait. Because males are hemizygous for all genes on the X chromosome, they express all recessive allele phenotypes for genes on this chromosome. Therefore, hemizygous males are affected, but only homozygous females are affected. Stated another way, affected males who receive the mutant allele from their mothers transmit it to all their daughters but not to any of their sons. However, daughters of affected males are typically heterozygous and therefore unaffected, but sons of heterozygous females each have a 50% chance of receiving the recessive gene and being affected. In order for females to be affected, they must inherit the recessive allele from both parents, while males only need to inherit the allele from their mother.​
DIFFICULTY:   Bloom’s: Understand
REFERENCES:   4-5 Sex-Linked Inheritance Involves Genes on the X and Y Chromosomes
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-5-1 – Compare and contrast sex-linked and autosomal inheritance.
HUHE.CUMM.16.4-5-2 – Describe the distinguishing characteristics of both X-linked dominant and X-linked recessive inheritance.

 

 

60. ​Identify the pattern of Mendelian inheritance represented in the pedigree above and explain how you made this determination.

ANSWER:   This pedigree represents a pattern of Y-linked inheritance. Only males have Y chromosomes, so traits encoded by genes on the Y are passed directly from father to son. All Y-linked traits are expressed in males because males are hemizygous for all genes on the Y chromosome.​
DIFFICULTY:   Bloom’s: Analyze
REFERENCES:   4-6 Paternal Inheritance: Genes on the Y Chromosome
PREFACE NAME:   essay
LEARNING OBJECTIVES:   HUHE.CUMM.16.4-6-1 – Explain the unique pattern of inheritance for genes on the Y chromosome.

 

 

 

 

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