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Study Guide — Unit 2 Chapter 5 DRAFT Unit 2 Genetic Processes Chapter 4 Heredity and Reproduction BIG IDEAS • Genetic and genomic research can have social and environmental implications. • Variability and diversity of organisms result from the distribution of genetic materials during the process of meiosis. Genetic information is passed from one generation to the next in the process of reproduction. This genetic information is stored in DNA molecules which are organized into genes on chromosomes. There are two types of reproduction. Asexual reproduction involves one parent; it produces offspring that are genetically identical to the parent. Sexual reproduction involves two parents; it produces genetically variable offspring. Each of these processes has biological advantages and disadvantages. Information about sexual and asexual reproduction, and how genetic information is transmitted during these processes, has applications related to human health, to agriculture, and to the environment. Chapter 5 Mendelian Genetics—Patterns of Inheritance Our understanding of how traits are transmitted during reproduction is due largely to the work of Gregor Mendel, the “Father of Genetics.” He used the results of many experiments to develop laws describing the inheritance of traits. There are many patterns of inheritance beyond those studied by Mendel. Patterns of inheritance include complete dominance, incomplete dominance, and codominance. Some traits, such as human skin colour, are controlled by multiple pairs of alleles, resulting in a great amount of variation. Genetic factors play a role in many disorders, such as cystic fibrosis. Genetic screening and carrier testing can help determine the risk of expressing or passing on a genetic disorder. There are social and ethical implications associated with genetic screening and carrier testing. Chapter 6 Genetics Beyond Mendel Genetic information is stored in DNA molecules. DNA is a double helix consisting of pentose sugars, phosphate groups, and nitrogenous bases. Mutations, which are changes in the sequence of nitrogenous bases in DNA, can occur due to environmental factors or errors in replication. Genomes of different organisms contain different numbers of genes. The human genome, which consists of about 20 000 genes, has been sequenced, and this information can be used in medical and forensic applications. Genetic engineering uses a variety of techniques to manipulate genetic information. Gene therapy applies genetic engineering to overcome the effects of defective genes. Genetic engineering and gene therapy have social and environmental considerations. Manipulation of the genome has environmental and social consequences. Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Overview 1 5.1 Textbook pp. 184–193 LEARNING TIP Characteristic or Trait Do not confuse the terms “characteristic” and “trait.” Traits represent the variation within a characteristic. For example, height is a characteristic, while short and tall are traits; sight is a characteristic, while normal vision, nearsightedness, and far-sightedness are traits. Mendelian Inheritance Vocabulary trait true-breeding organism hybrid cross P generation F1 generation monohybrid monohybrid cross F2 generation law of segregation allele homozygous heterozygous genotype phenotype dominant allele recessive allele Punnett square probability test cross Main idea: Gregor Mendel was the first person to record and quantify the inheritance of traits in an organism over many generations. He did this through the selective cross-breeding of common pea plants (Pisum sativum). His experiments laid the groundwork for modern day genetics. 1. Why did Mendel select the pea plant for his experiments? Give three characteristics of the pea plant that make it ideal for crosses. 2. Explain the significance of Mendel’s use of true-breeding plants in his experiments. 3. Explain how the characteristics that Mendel chose to study aided his study on the inheritance of traits. 4. Define “monohybrid cross” and explain its significance in experiments that study the inheritance of traits. Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 1 Main idea: Mendel’s data revealed patterns of inheritance. Table 1 Mendel’s Data Characteristics seed shape P round × wrinkled F1 all round seed color yellow × green all yellow pod shape all inflated pod colour inflated × constricted green × yellow flower colour purple × white all purple flower position axial × terminal all axial stem length tall × dwarf all tall 5. all green F2 5474 round 1850 wrinkled 6022 yellow 2001 green 882 inflated 299 constricted 428 green 152 yellow 705 purple 224 white 651 axial 207 terminal 787 tall 277 dwarf Ratio 2.96 : 1 3.01 : 1 2.95 : 1 2.82 : 1 3.15 : 1 3.14 : 1 2.84 : 1 (a) Write a sentence that summarizes the mathematical pattern in Mendel’s data for the F1 generation (Table 1). (b) Write a sentence that summarizes the mathematical pattern in Mendel’s data for the F2 generation (Table 1). [T/I] [C] 6. (a) What were Mendel’s two main conclusions about how traits are passed from one generation to the next? (b) What is the formal name used to describe Mendel’s two conclusions? [K/U] ______________________________ Main idea: Genes have alternate forms called alleles. LEARNING TIP Dominance In genetics, dominance refers only to which gene is expressed in an organism. It does not mean that the allele is stronger, better, or more common than the recessive allele. 7. A(n) ___________ is any of the alternate forms of a gene that may occur at a specific locus. 8. Cells have two alleles for each gene, one from each parent. If the two alleles for a particular gene are the same, the individual is ___________ for that allele. If the two alleles for a particular gene are different, the individual is __________ for that allele. [K/U] Main idea: Genes influence traits. 9. The set of alleles an individual has, or its genetic makeup, is known as its _____________. [K/U] 10. An individual’s outward appearance with respect to a specific characteristic is its ____________. [K/U] 11. Some alleles are dominant, while others are recessive. __________ alleles are always expressed in the phenotype, whereas __________ alleles do not show up unless they are the only allele present the genotype. [K/U] Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 2 Use Figure 1 to answer questions 12 and 13. Figure 1 12. Based on the information in Figure 1, which allele for plant height is dominant? [T/I] _________ 13. Circle any plant or plants shown in Figure 1 that are homozygous. Cross out any plant or plants that are heterozygous. [K/U] 14. Explain how two different genotypes may result in the same phenotype. [K/U] Main idea: A Punnett square is a diagram used to predict the proportions of genotypes in the offspring resulting from a cross between two individuals. 15. (a) What does the information on each axis of a Punnett square represent? (b) What does the information inside a Punnett square represent? [K/U] STUDY TIP 16. In pea plants, the trait of axial flowers, A, is dominant, and the trait of terminal flowers, a, is recessive. Draw a Punnett square in the space below that shows a cross between two pea plants heterozygous for the trait of flower position. The genotype of each parent plant is Aa. [T/I][C] A Punnett square can be used to predict the inheritance of alleles. Use a Punnett square when you are asked to find the possible genotypes of offspring that result from a cross. 17. Explain how a test cross can be used to determine the genotype of an unknown parent. [K/U] Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 3 5.2 Variations in Heredity Vocabulary Textbook pp. 194–196 complete dominance incomplete dominance codominance Main idea: Alleles that determine the phenotype regardless of the presence of other alleles follow a pattern of inheritance called complete dominance. 1. Mendel’s experiments involved crossing homozygous dominant plants with homozygous recessive plants. In these crosses, only one allele is expressed in the phenotype despite the presence of the other allele. This pattern of inheritance called __________ __________. [K/U] 2. Use your knowledge of complete dominance to explain why individuals who are heterozygous and those that are homozygous for the dominant allele can have different genotypes but the same phenotype. [T/I][A] LEARNING TIP Notation of Alleles Notation of alleles for a specific gene can be represented using superscripts. For example, consider the alleles for colour in snapdragons. The gene is C for colour. The alleles are red (R) and white (W). When you combine the notations for genes and alleles, the result is CR for the red allele and CW for the white allele. LEARNING TIP Notation of Alleles in Incomplete Dominance In incomplete dominance, alleles are neither dominant nor recessive. In this situation, uppercase letters with superscripts are used to represent different alleles. Main idea: Not all traits are inherited in simple patterns such as complete dominance. Variations in the patterns of heredity exist, and dominance is not always complete. 3. ____________ ____________ occurs when neither allele dominates the other and both exercise an influence on the phenotype, resulting in partial expression of both traits. [K/U] 4. The snapdragon is an organism that displays incomplete dominance for flower colour. Complete Table 1 by recording the flower colour, or phenotype, associated with each genotype. [K/U] Table 1 Snapdragon Genotypes and Phenotypes Genotype Phenotype CRCR CRCW CWCW 5. (a) Draw a Punnett square to show a cross between two pink-flowered snapdragons. (b) What percentage of the offspring will have pink flowers? _______[T/I] Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 4 6. (a) Draw a Punnett square to show a cross between a red snapdragon and a white snapdragon. (b)What percentage of the offspring will have pink flowers? _______ [T/I] Main idea: Codominance occurs when both alleles are fully expressed, producing offspring with a third genotype. 7. Type AB blood is an example of codominance. Draw a Punnett square to show a cross between an individual with type A blood (genotype IAi) and an individual with type B blood (genotype IBi). Circle any offspring that will have type AB blood. [T/I][A] Main idea: Blood type is an example of a gene with multiple alleles. The three blood types alleles are IA, IB, and i. Different combinations of the three alleles produce type A, type B, type AB, and type O blood. 8. STUDY TIP Charts and Tables Charts and tables are an effective way to organize information. Create a graphic organizer to differentiate between complete dominance, incomplete dominance, and codominance. (a) Fill in the missing information in the Table 2 below to reinforce what you know about human blood types. [T/I] Table 2 Human Blood Types Genotype Blood Type IAIA A A Ii Able to receive blood from Able to donate blood to A, AB A IBIB IBi IAIB B AB ii (b) Which blood type is known as the universal donor? Why? (c) Which blood type is known as the universal recipient? Why? [K/U][T/I] Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 5 5.3 Pedigrees−Tracking Inheritance Vocabulary pedigree autosomal inheritance Textbook pp. 197–201 sex-linked X-linked Y-linked Main idea: A pedigree chart traces the inheritance of a trait among members of a family. It shows the connections between parents and offspring, the sex of individuals in each generation, and the presence or absence of a trait. 1. STUDY TIP Pedigree Chart Symbols You can use a pedigree chart to track the inheritance of traits through generations of a family. With a partner, use flashcards to review the symbols used on pedigree charts. Use the terms in the box below to label the pedigree symbols below. [K/U] affected female affected male fraternal twins identical twins normal female normal male mating siblings (a) ________ (c) ________ (e) ________ (g) _______ (b) ________ (d) ________ (f) ________ (h) ________ 2. Draw a pedigree chart for the following: A man and a woman are both heterozygous for a recessive genetic disorder. They have three children: an unaffected female, an unaffected male, and an affected female. The affected female and a man who is heterozygous for the disorder have male fraternal twins who are both affected. [T/I] [A] 3. Describe how phenotypes can be used to predict genotypes in a pedigree. Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 6 Main idea: The expression of genes on the sex chromosomes differs from the expression of autosomal genes. 4. If an allele is located on an autosome, or a non-sex chromosome, it is transmitted through __________ inheritance. [K/U] 5. In autosomal inheritance, males and females are affected at _______ rates. [K/U] 6. Identify the two human chromosomes on which an autosomal allele could not be located. [K/U] 7. Sex-linked inheritance occurs when a ________ allele on the X or Y chromosome of the parent is passed on to the offspring. [K/U] 8. Red-green colour blindness is an example of X-linked inheritance. A woman who is an unaffected carrier of red-green colour blindness and a man who has normal vision are expecting a child. Draw a Punnett square to show the possible genotypes of their offspring. Use XR to represent the normal allele and Xr to represent the allele for red-green colour blindness. [T/I] 9. Use the information in the completed Punnett square from question 8 to answer the following questions. [T/I] [A] (a) What percentage of the male offspring would you expect to have red-green colour blindness? _______ (b) What percentage of female offspring would you expect to be unaffected carriers of red-green colour blindness? ________ (c) How does the expression of the red-green colour blindness trait differ between male offspring and female offspring? 10. Can a male be an unaffected carrier of a recessive X-linked trait? Explain. [T/I] [A] Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 7 5.4 Textbook pp. 202–203 Biology Journal: The Gene Hunters Main idea: The gene for Huntington’s disease has been located through extensive research. Research continues as scientists seek a way to prevent or cure this disease. 1. Use the mind map below to take notes about Huntington’s disease and the search for the Huntington’s disease gene. [K/U][C] Symptoms: Tools and Techniques Used in Research: Huntington’s disease STUDY TIP Mind Maps You can use a mind map to organize information found in a reading passage.. In this case, the mind map helps collect and organize the main ideas found throughout the reading selection. Mode of Inheritance: Location of Marker: 2. People from all walks of life can make contributions to science. Explain why the hunt for the gene that causes Huntington’s disease is an example of this fact. [T/I] [A] 3. Scientific inquiry involves questioning, researching, identifying and controlling variables, hypothesizing, predicting, planning, performing and recording, observing, analyzing, evaluating, and communicating. How did Dr. Nancy Wexler’s work fit this pattern? Use examples to justify your answer. [T/I][A] Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 8 5.5 Textbook pp. 204–207 Genetic Disorders Vocabulary mutation carrier testing genetic screening phenylketonuria (PKU) Main idea: Many human disorders have a genetic component. 1. A change in the genetic code of an allele is called a ___________. 2. Which of the following disorders is not caused by a gene mutation? (a) Huntington’s disease (b) Phenylketonuria (c) asthma (d) hemophilia 3. Indicate whether the following statement is true or false. If you think the statement is false, rewrite it to make it true: Cystic fibrosis is the passed on through a dominant mutated gene. 4. Complete the Punnett square below to show the possible offspring of an unaffected male carrier of cystic fibrosis and a female with two normal alleles. Use F for the normal allele and f for the cystic fibrosis allele. [T/I] [A] STUDY TIP Punnett Squares You can use a Punnett square to predict the proportions of genotypes in the offspring resulting from a cross between two individuals. Practise using a Punnett square for various crosses, including the one shown in question 4. (a) What percentage of the possible offspring does not carry an allele for cystic fibrosis? _______ (b) What percentage of the possible offspring are unaffected carriers of a cystic fibrosis allele? _______ (c) What percentage of the possible offspring will have cystic fibrosis? _______ 5. Copyright 2011 by Nelson Education Ltd. Would your answers to question 4 differ if it was the female was a healthy carrier of the cystic fibrosis allele and the male had two normal alleles? Explain your response. [T/I] [A] DRAFT Unit 2 Ch 5 9 Main idea: Genetic screening is used to detect mutated genes that cause genetic disorders. 6. Genetic screening is used to identify the presence of a defective allele that leads to a genetic disorder. Explain how a genetic counsellor might use a pedigree chart in addition to DNA testing in order to diagnose a genetic disorder. [T/I] 7. Explain how genetic screening can be used to predict the severity of cystic fibrosis symptoms an affected individual will have. [T/I] 8. Explain how a mutation in BRCA1 or BRCA2 can lead to the development of cancer. [T/I] [A] Main idea: Newborn genetic screening is now used to identify the presence or absence of defective genes in many countries, including in Canada. 10. List three specific disorders that are part of Ontario’s newborn screening program. [K/U] Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 10 5.6 Textbook pp.208–209 Explore an Issue in Genetic Screening Main idea: Genetic testing has many benefits, but the use and ownership of the results has raised many ethical and legal issues. 1. Legal access to and ownership of genetic information are topics that will become increasingly important as the ability to test for specific genes and disorders increases. In the chart below, add facts and opinions related to each of the listed questions. When you have completed the chart, you can review the information you have recorded to help you form guidelines about these important issues. [C] [A] Question STUDY TIP Organizing Facts and Opinions for Discussion Charts can be used to organize information related to complex issues. In this chart, you should record your thoughts and opinions about each of the questions listed. Then, you can use this information in group discussions. Facts and Opinions Who makes decisions about access to genetic information? LEARNING TIP Making Decisions as a Group Before you come to a decision as a group, make a list on chart paper of pros and cons for the question at hand. Place the chart paper where all group members can see and have access to it. This can be helpful in forming new thoughts and ideas about the discussion at hand. During a brainstorming session like this one, take an accepting attitude of all the ideas presented to the group. Wait until the page is full to critique the ideas. Who should have access to an individual’s genetic information? Should an individual ever be required by law to share genetic information? Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 11 5.7 Textbook pp. 210–214 Multi-trait Inheritance Vocabulary dihybrid cross law of independent assortment product law discontinuous variation continuous variation additive allele Main idea: A dihybrid cross involves two traits. 1. A dihybrid cross involves a cross between two individuals who differ in two pairs of __________. 2. Mendel performed dihybrid crosses in plants that were true-breeding for two traits. For example, a plant that had yellow seed colour and round seed shape was crossed with a plant that had green seed colour and wrinkled pod shape. In this cross, the traits for yellow seed colour (YY) and round pod shape (RR) are dominant. Green seed colour (yy) and wrinkled pod shape (rr) are recessive. [T/I] [C] (a) Draw a Punnett square to show the genotypes of the resulting offspring. LEARNING TIP Gene Order When completing the Punnett square for a dihybrid cross, keep the genes in alphabetical order and write the dominant alleles (capital letters) first, for example, TtPp. (b) If the F1 generation was then crossed, what would be the resulting genotype ratio of the F2 generation? 3. Copyright 2011 by Nelson Education Ltd. Mendel crossed numerous heterozygous F1 generation plants. What did his experiments reveal to him about the inheritance of traits? Explain your reasoning. [T/I] DRAFT Unit 2 Ch 5 12 Main idea: Mendel’s law of independent assortment states that alleles of different genes separate into gametes independently of one another. 4. In pea plants, the allele for the trait of tall plants (T) is dominant; the allele for dwarf plants is recessive (t). The allele for purple flowers (P) is dominant; the allele for white flowers (p) is recessive. Complete the Punnett square below (Figure 1) to show the dihybrid cross between two pea plants, both of which are heterozygous for these traits. [T/I] TP STUDY TIP TP Developing Explanations Diagrams can be used to visualize concepts and ideas. In this case, a Punnett square is used to show how alleles assort independently. Using your completed diagram, explain this concept to a friend. Tp Tp tP tp tP tp Figure 1 5. LEARNING TIP Fill in Table 1 below to show the ratio of the phenotypes of the offspring in the dihybrid cross in question 4. [A] Table 1 Phenotypic Ratios Sample Size Note that Mendel observed these ratios only because of his large sample size. He crossed hundreds of plants, producing thousands of offspring. As sample size increases, the closer the experimental (actual probability gets to theoretical probability. Number of offspring (a) Phenotype 9 (b) tall plants, white flowers (c) 3 (d) 6. An individual is heterozygous for two traits. His genotype for those traits is BbGg. In Figure 2 below, show the four possible gametes this individual can produce. [T/I] [A] BbGg _____ _____ _____ _____ Figure 2 Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 13 Main idea: Genetic ratios are probabilities. 7. The probability of two independent events both occurring may be calculated using the _________ __________. 8. To calculate the probability of two independent events both occurring, multiply their individual _______________. 9. In a dihybrid cross, either a Punnett square or the probability law can be used to determine the likelihood of a particular outcome. Compare the predicted probabilities using each of these methods compare. [T/I] Main idea: Variation in the expression of genes can be described as either continuous or discontinuous. 10. ______________ variation occurs when a trait is either expressed or is not (i.e. there is no in-between trait). _____________ variation occurs in nature when the expression of a characteristic is a sum of the expression of all alleles involved. [K/U] 11. Classify the pea plant traits studied by Mendel as continuous or discontinuous. Write a sentence to justify your classification. [T/I] 12. Identify a human trait that exhibits continuous variation. [K/U] 13. Define the term “additive allele.” [K/U] Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 14 Chapter 5 Summary Mendelian Genetics—Patterns of Inheritance Gregor Mendel is known as the “Father of Genetics” because of his study of the inheritance of certain traits in pea plants. Mendel showed that the inheritance of these traits follows particular laws. law of segregation law of independent assortment based on the conclusions that which states for each characteristic, an organism carries two genes: one from each parent. if genes are located on separate chromosomes, they will be inherited independently of one another. parent organisms donate only one copy of each gene in their gametes. During meiosis, the two copies of each gene separate, or segregate. Patterns of inheritance can be tracked and predicted using tools such as Punnett squares include pedigree charts complete dominance which occurs when one allele determines the phenotype, regardless of the presence of another allele incomplete dominance which occurs when neither allele dominates the other; both exercise an influence on the individual, resulting in partial expression of both traits Copyright 2011 by Nelson Education Ltd. DRAFT codominance which occurs when both alleles are expressed fully, resulting in offspring with a third phenotype Unit 2 Ch 5 15 Chapter 5 Questions K/U T/I C A Knowledge/Understanding Thinking/Investigation Communication Application For each question, select the best answer from the four alternatives. 1. Which of the following statements is one of the conclusions that forms the law of segregation? (5.1) [K/U] U (a) Each parent passes on only one of its two alleles for each gene. (b) Dominant alleles, if present, are always passed on. (c) The frequency of genotypes among offspring is random and cannot be predicted. (d) Individuals have a single, segregated allele for each gene. 2. An individual with the genotype IAi has type A blood. What do this particular genotype and phenotype demonstrate? (5.2) [K/U] (a) compatible dominance (b) codominance (c) complete dominance (d) incomplete dominance Indicate whether each of the statements is true or false. If you think the statement is false, rewrite it to make it true. 3. A diagram used to show the inheritance of a trait through generations of a family is called a Punnett square. (5.3) [K/U] 4. Nancy Wexler is a scientist who investigated the cause of phenylketonuria. (5.4) [K/U] Respond to each statement or answer each question below. 5. An individual with type AB blood marries an individual with type O blood. Is it possible for their offspring to have the same blood type as either parent? Explain your response. (5.2) [T/I] [A] 6. Describe the symptoms of cystic fibrosis. Then, classify the allele that causes the disorder as dominant or recessive and state whether it is autosomal or X-linked. (5.5) [K/U][T/I] 7. Identify one ethical issue related to genetic screening. Then, write a sentence that summarizes your opinion on this issue. (5.6) [T/I] [A] Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 16 8. Compare and contrast discontinuous and continuous variation. Identify one way they are similar and one way they are different. (5.7) [T/I] 9. In humans, the allele M codes for melanin, the allele m does not. Individuals with the genotype mm have albinism. Draw a Punnett square to show a cross between two individuals who are heterozygous for this trait and circle any possible offspring who will have albinism. (5.1) [T/I] [C] 10. Fill in Table 1 below to compare codominance, complete dominance, and incomplete dominance. (5.2) [T/I] C] Table 1 Codominance Complete dominance Incomplete dominance Number of alleles present Number of alleles that affect phenotype Phenotype of heterozygote 11. Draw a pedigree chart to show the following: A man with an autosomal recessive disorder and a woman who does not carry the allele for this disorder have three children: a son, a daughter, and another son. None of the children have the disorder. The youngest son and a woman who is an unaffected carrier of this disorder have two daughters. Both of their daughters have the disorder. (5.3) [T/I] [C] [A] Copyright 2011 by Nelson Education Ltd. DRAFT Unit 2 Ch 5 17