BIOL0601Provincial Biology: Module 3: Genetics BIOL0601 Module 3 Assignment 3 (M3A) Document1 2016-03-22 3:16:00 PM 1 / 24 BIOL0601Provincial Biology: Module 3: Genetics Introduction BIOL0601 Provincial Biology Assignment 3 Instructions: Print Students Answer questions in the spaces provided on the paper. If you need more space, append a sheet and make sure that you clearly identify the page with your name, the assignment title and the question number. Answers to the long answer questions are to be done on a separate paper. Make sure that you clearly identify this page with your name, the assignment title and the question number. Only submit your work to your tutor when all the work in the assignment (questions and labs) has been completed. If you are sending your file to your tutor electronically, ensure that it has a file name that includes the course name, assignment number and your name. e.g. BIOL0601_A1_Chiu.doc (with your name in place of “Chiu.”) Topic Marks Diagrams 10 Terms and Definitions 9 Matching Questions 9 Short Answer Questions 30 Long Answer Questions 12 Lab 3A 10 Lab 3B 10 Lab 3C 10 Total marks Document1 2016-03-22 3:16:00 PM /100 2 / 24 /100 BIOL0601Provincial Biology: Module 3: Genetics Diagrams 1. Each of the micrographs represents a stage of mitosis. Identify the stage, and state why you made this identification. (10 marks) The phases flow smoothly from one into the other, and sometimes it is difficult to distinguish at the boundary between two phases. Each phase however, does have specific features. Use these features to identify the individual slides, and note those features in the reasons column. micrograph stage of mitosis metaphase prophase (early prophase) anaphase Document1 2016-03-22 3:16:00 PM 3 / 24 reasons In metaphase (late metaphase) the chromosomes are lined up along the equator of the cell and the spindle fibres are well developed. The chromatids are about to begin to separate. This is early in the process. The chromatin has condensed and the chromosomes are visible. The centromeres have divided and are just beginning to move to the poles of the cell. The chromatids have separated and the new nuclei are forming. Cytokinesis is about to begin. BIOL0601Provincial Biology: Module 3: Genetics Prophase Document1 2016-03-22 3:16:00 PM 4 / 24 The chromosomes are visible and the nuclear membrane is gone. The centromeres are in position at the poles of the cell. The cell is organizing itself for the separation of the sister chromatids. BIOL0601Provincial Biology: Module 3: Genetics Terms 1. Place the letter of the definition that matches a term in the left hand column (*) of the chart. (4 marks) (*) term definition autosome A crossing over B cytokinesis C haploid D pedigree E meiosis F syndrome G trisomy H Exchange of segments between non-sister chromatids in the tetrad. A disorder which is indicated by a group of symptoms that appear together. A graphical representation of the appearance of a certain characteristic over several generations in a family. The process whereby the amount of DNA is halved during the formation of gametes. Chromosomes other than the sex chromosomes. Describes the situation in which there are three homologous chromosomes instead of two. Describes the chromosome number in a gamete. The process at the end of mitosis that produces two new cells. 2. Create a paragraph to show that you understand the relationship between the following terms: chromosome, gene, allele, dominant, recessive, haploid, diploid, genotype, phenotype, mutation (5 marks) Document1 2016-03-22 3:16:00 PM 5 / 24 BIOL0601Provincial Biology: Module 3: Genetics Matching 1. This is a family pedigree for the sex linked (X-linked) characteristic, hemophilia. Squares represent males. a) Match the description in the following table with the number of the individual or individuals in the pedigree. Numbers 3 and 22 have been done for you. All individuals in the chart should be matched when done. (6 marks) description homozygous normal female carrier female hemophiliac female normal male hemophiliac male unable to say genotype exactly number on chart 3 22 b) What conditions are necessary for a female to be a hemophiliac? (1 mark) c) Explain why a male can never be considered d) a “carrier”. (1 mark) e) Explain your choice for individual 11 (1 mark) Document1 2016-03-22 3:16:00 PM 6 / 24 BIOL0601Provincial Biology: Module 3: Genetics Short Answer Questions 1. Compare and contrast oogenesis and spermatogenesis. (4 marks) 2. Outline the stages of the cell cycle and the events that take place in each stage. (4 marks) 3. Two ways in which genetic variation is introduced are: 1. the way the homologous chromosomes pairs line up along the equatorial plate and then separate in anaphase 1 of meiosis 2. crossing over during metaphase 1 of meiosis How does each of these contribute to genetic variation? (4 marks) 4. Plants heterozygous for a characteristic which determines petal colour were crossed (AB x AB). The A allele represents a red phenotype and the B allele represents a white phenotype. Work out the genotypic and phenotypic numbers if: 1. This is an FI cross. The results will be 1 AA to 2 AB to 1 BB Document1 2016-03-22 3:16:00 PM 7 / 24 BIOL0601Provincial Biology: Module 3: Genetics 2. A and B are incompletely dominant. (2 marks) 3. A and B are co-dominant (2 marks) 5. In summer squash, white fruit color (W) is dominant over yellow fruit color (w) and disk-shaped fruit (D) is dominant over sphere-shaped fruit (d). If squash with white, disc shaped fruit are crossed, and both characteristics are heterozygous, what will the phenotypic ratios be? (set up a Punnet Square to solve this problem) (5 marks) Hint: The genotype of both parents is WwDd 6. Consider the following situations: Situation 1: Two genes, A and B are on one chromosome. Situation 2: Two genes, C and D are on two separate chromosomes. Both organisms are heterozygous for each gene (Aa, Bb, Cc and Dd). How does this gene distribution affect the way in which the alleles will be distributed between gametes and passed on to offspring? ( 3 marks) Document1 2016-03-22 3:16:00 PM 8 / 24 BIOL0601Provincial Biology: Module 3: Genetics 7. Name all the parental genotypic combinations required to produce an individual with blood type A and genotype IAi (2 marks) Document1 2016-03-22 3:16:00 PM 9 / 24 BIOL0601Provincial Biology: Module 3: Genetics Long Answer Questions Answer the following questions on a separate piece of paper. Each of your answers should be two to three paragraphs long. Use your own wording. 1. Figure 18.4 of your text shows 3 checkpoints in the cell cycle. At each of these checkpoints, apoptosis will occur if certain conditions exist. What is apoptosis? What is the significance of each of these checkpoints to the survival of the cell and the survival of the organism? How might these events relate to cancer? (8 marks) 2. Colour in a type of flower is controlled by 2 genes that together lead to 4 unique colours of petal. The “A” allele of gene 1 produces the dominant phenotype, blue flowers. The “B” allele of gene 2 produces the dominant phenotype, red flowers. When both alleles occur together (A_B_) the flowers are yellow. In the absence of either allele “A” or “B”, the flowers are mauve (aabb). You are given some seeds that were produced by a yellow-flowered plant, and plant them in your garden. Once the plants have grown and the flowers are blooming, you find every one of the four colours in your garden. When you count the plants, you find 22 yellow, 19 blue, 21 red and 23 mauve plants. What can you deduce about the genotypes of the parent plants? What colour (phenotype) was the other parent plant? Explain your answers completely. (6 marks) Document1 2016-03-22 3:16:00 PM 10 / 24 BIOL0601Provincial Biology: Module 3: Genetics Lab 3A: Mitosis (Microscope CD) Introduction Cells have finite life spans. Some cells live for hours (cells of hair, skin and intestine lining) and some last longer (red blood cells for 120 days and stem cells for a lifetime!) New cells are produced by a process called mitosis. In this process a cell produces two daughter cells, “identical” to each other and the original cell. The cells are identical because they each contain a copy of the DNA from the original cell. This can be pictured as making an exact copy of a 23 volume encyclopedia (with 2 copie3s of each volume), with each of the new 23 volume sets containing some of the original and some of the “new” material. Through a carefully orchestrated series of steps, a single cell makes a copy of its DNA, and then divides into two, placing one of the DNA copies into each daughter cell. This process of DAN replication occurs during the M stage of the cell cycle. Method The processes that we wish to observe are too small to be seen with the pocket microscope. Pictures have been taken of cells of the onion root tip and whitefish blastula. These pictures have been included in the Microscope CD. 1. Examine the video on mitosis on the Microscope CD. Notice that the process is a continuous, smooth event. 2. Section 18.3 of your text has descriptions and diagrams of each of the phases of mitosis. Examine the mitosis slides included on the Microscope CD. Find a cell in each of the stages indicated and draw a diagram of that cell in the space provided in the Results section. (The slides represent snapshots of a cell in mitosis. You may have to search to find the stages, but they are all included) Results prophase slide name: Key observations power - Document1 2016-03-22 3:16:00 PM 11 / 24 BIOL0601Provincial Biology: Module 3: Genetics early metaphase slide name: Key observations power late metaphase slide name: Key observations power - Document1 2016-03-22 3:16:00 PM 12 / 24 BIOL0601Provincial Biology: Module 3: Genetics anaphase slide name: Key observations power - telophase slide name: Key observations power - Document1 2016-03-22 3:16:00 PM 13 / 24 BIOL0601Provincial Biology: Module 3: Genetics cytokinesis slide name: Key observations power - Congratulations, you have now completed Lab 3A Document1 2016-03-22 3:16:00 PM 14 / 24 BIOL0601Provincial Biology: Module 3: Genetics Lab 3B: Monohybrid Crosses Please note that you do not need to submit your lab work to your tutor. You do need to submit the completed tables in the Results section and your answers to the questions in the Thinking About the Results section. Introduction We are all aware that the offspring of parents can display a combination of characteristics from almost completely maternal to almost completely paternal. Farmers took advantage of this by selectively breeding plants and animals to produce desired results (more milk from a cow or more fruit on a plant) In the early nineteenth century, an Austrian monk, Gregor Mendel, whose background was agriculture, began to approach the selective breeding problem with a view to understanding it and making it more efficient. He published his work in 1865, but its importance was not recognized until fifty years later. He was then called the “father of modern genetics”. We will use a model system to show how genetic characteristics are passed along to the next generation and how parental characteristics interact to produce the characteristics of the offspring. Enter the data as you do the lab. Materials 2 cups (like Styrofoam or paper coffee cups) 10 small objects of the same shape and size but of different colours (like 5 red and 5 green jelly beans – any two colours will do Method In order to study how characteristics were passed along, Mendel did two things: 1. He identified characteristics with two variations (smooth and wrinkled seeds, yellow and green seeds, tall and short plants) 2. He produced individuals that were pure breeding for each of the characteristics and their varieties. He then began to cross the pure breeding plants. The pure breeding plants are called the P1 generation (first parental generation) and the “offspring” were called the F1 generation (first filial generation). He found that in the F1 generation, one of the variations of the characteristic “disappeared”. In the cross between tall and short pure breeding plants, all the F1 plants were tall. He then did something which can be considered brilliant – he crossed F1 plants together. He found that the variety that had disappeared reappeared and that there was a specific mathematical relationship between the numbers of tall and the numbers of short plants. The characteristics are determined by the genes carried by the parents. The varieties of these genes (tall and short for example) are called alleles. The allele that shows up in the F1 generation is called the dominant phenotype, and the one that “disappears” is called the recessive phenotype. Mendel’s experiments could only be explained if each parent had two alleles for each characteristic, and that these alleles were passed on independently and randomly to the offspring. This was called Mendel’s Law of Segregation. The P1 generation 1. Label one of the cups HIS. Label the other cup HERS 2. In order to create the P1 generation, we need homozygous parents. A homozygous individual will have two identical alleles. Place two “jelly beans” of the same colour in the HIS cup. 3. The second homozygous parent in created by placing two jelly beans of a different colour in the HER cup. Document1 2016-03-22 3:16:00 PM 15 / 24 BIOL0601Provincial Biology: Module 3: Genetics 4. Decide on the dominant phenotype (one of the jelly bean colours). Record this in the Results section. The F1 generation 5. “Breeding” is accomplished by combining one allele from one parent with one allele from the other parent. Randomly select (close your eyes) one object from each cup. This is a new F1 individual. Record the “colour” of the two alleles. 6. Replace the objects in the same cup from which they were taken. Shake the cup and make another selection. Record the results in. Continue like this until 100 F1 offspring have been “produced”. Count the total number of each genotype and record it in Table 3.2.1 The F2 generation 7. The F2 generation is produced by crossing F1 individuals. In the F1 individual, there is one of each allele. Place 1 object of each colour in one cup. Do the same for the other cup. Repeat step 5. After 100 F2 individuals have been produced, record the number of each genotype in Chart 3.2.2 Results 1. Colour of dominant phenotype This is a student choice 2. Table 3.2.1 number of homozygous dominant F1 offspring none number of heterozygous F1 offspring all number of F1 offspring with 2 recessive alleles none 3. Table 3.2.2 The numbers for this table should approximate 1:2:1 number of homozygous dominant F2 offspring number of heterozygous F2 offspring number of homozygous recessive F2 offspring Thinking About the Results 1. colour (object) of dominant phenotype ____________________ colour (object) of recessive phenotype ____________________ These are student choices 2. Consider the F1 generation: a. what is the genotypic ratio? b. what is the phenotypic ratio? Document1 2016-03-22 3:16:00 PM 16 / 24 BIOL0601Provincial Biology: Module 3: Genetics 3. Consider the F2 generation: a. what is the genotypic ratio? b. what is the phenotypic ratio? 4. The Punnet square is a useful tool for analyzing crosses. This is an example Punnet square: X x X XX Xx x Xx xx The X represents the allele for the dominant phenotype and the x represents the allele for the recessive phenotype. (it is convention that the dominant phenotype is represented by a capital letter). The top shaded area represents one parent and the side shaded area represents the other parent. The possible offspring are represented by the central unshaded boxes with each parent donating one allele to give the genotype of the offspring. The phenotype of the offspring depends on the relationship between the two alleles. Use the following blank table to analyze your results for the F2 generation. Define the symbols that you will use for each allele and fill in the Punnet Square. (the shaded area will contain the alleles donated by each parent Define your symbols here: a) What is the genotypic ratio? b) What is the phenotypic ratio? Document1 2016-03-22 3:16:00 PM 17 / 24 BIOL0601Provincial Biology: Module 3: Genetics 5. How does your experimental phenotypic ratio (question 3) compare with the expected phenotypic ratio (question 4b)? How can you explain any differences? . 6. Assume that the dominant phenotype results in a tall pea plant, and the recessive phenotype results in a short pea plant. Homozygous dominant pea plants were crossed with homozygous recessive pea plants. a. What would the F1 generation plants look like? b. What would the F2 generation plants look like? c. If 300 F2 pea plants were produced, how many would expect to be: tall? short? (show your work in solving this problem) 7. In the fruit fly, “wild” eyes are the dominant phenotype. A pair of flies was crossed. This produced 41 offspring with “wild” eyes and 13 offspring with white eyes. a. What are the genotypes of the parent flies? Document1 2016-03-22 3:16:00 PM 18 / 24 BIOL0601Provincial Biology: Module 3: Genetics b. What are the phenotypes of the parent flies? Congratulations, you have now completed Lab 3B. Document1 2016-03-22 3:16:00 PM 19 / 24 BIOL0601Provincial Biology: Module 3: Genetics Lab 3C: Dihybrid Crosses Please note that you do not need to submit your lab work to your tutor. You do need to submit the completed tables in the Results section and your answers to the questions in the Thinking About the Results section. Introduction The monohybrid cross involved one characteristic with two alleles (variations). We will now consider the situation in which we have two characteristics each with two possible alleles. Mendel called this a dihybrid cross and from the results he developed his Law of Independent Assortment. The important idea behind the Law of Independent Assortment is that the two characteristics were passed on independently of each other. Also remember that Mendel only published his results after he had collected a massive amount of information on the order of thousands of individuals as statistics become more reliable as the number of data points increases. Because there are two characteristics and two variations of each characteristic, there are four possible combinations in which the alleles may be passed on by one of the parents. Genotype of F1 individual (heterozygous) in a dihybrid cross Characteristic 2 Characteristic 1 Allele A Allele a Allele B Allele b Possible Parental Gametes Each gamete (egg or sperm) produced by a parent will contain one allele for each characteristic. This gives rise to four possible combinations of alleles in each gamete. If we use letters rather than symbols, the result for all possible gamete combinations for one parent is: AB Ab aB ab aB ab Similarly we have four possible gametes for the other parent: AB Ab AB Ab aB ab At this point this table should look familiar; it is a Punnet square, only this time it is for a dihybrid cross. Since there are 4 possible gametes for each parent, there are 16 possible combinations of gametes, or sixteen possible offspring genotypes. The genotype of each offspring is shown in each of the interior boxes. Document1 2016-03-22 3:16:00 PM 20 / 24 BIOL0601Provincial Biology: Module 3: Genetics AB Ab aB ab AB AA BB AA Bb Aa BB AaBb Ab AA Bb AA bb Aa Bb Aa bb aB Aa BB Aa Bb aa BB aa Bb ab Aa Bb Aa bb aa Bb aa bb We can now create a chart of the genotypes possible filial genotypes AA BB Aa BB aa BB AA Bb Aa Bb aa Bb AA bb Aa bb aa bb genotypic count from chart 1 2 1 2 4 2 1 2 1 The next step is to look at the phenotypic count. Following the convention that the capital letter represents the dominant phenotype, we can see that there are 4 distinct phenotypes: both dominant phenotypes – AABB, AaBB, AABb, and AaBb one dominant and the other recessive – AAbb and Aabb one recessive and the other dominant – aaBB and aaBb both recessive phenotypes – aabb Now we can look at the phenotypic count. Remember that the dominant phenotype is capable of “hiding” the recessive phenotype in the heterozygous form. possible filial (F2) phenotypes AABB, AaBB, AABb, AaBb both dominant AAbb and Aabb one dominant – the other recessive aaBB and aaBb one recessive – the other dominant aabb both recessive phenotypic count 9 3 3 1 This is the typical F2 generation phenotypic ratio: 9:3:3:1 in a Mendelian dihybrid cross.. The F1 generation would be produced by parents (the P1 generation) with the following genotypes: AABB x aabb. As Mendel discovered, using homozygous parents for the P1 generation produced an F1 generation with heterozygous offspring (AaBb) all of the same phenotype. They all looked the same because the recessive phenotype was hidden for both characteristics. When the F1 offspring were crossed, the F2 generation produced 9/16 offspring showing both dominant phenotypes, 3/16 one dominant and the other recessive, 3/16 one recessive and the other dominant and 1/16 showed both recessive phenotypes. Given the earlier colour codes (red dominant to green and brown dominant to blue), what would the F2 offspring “look” like? possible F2 phenotypes AABB, AaBB, AABb, AaBb AAbb and Aabb aaBB and aaBb aabb phenotypic count 9 3 3 1 appearance of offspring red – brown red – blue green – brown green - blue In this experiment we are going to show how this actually happens. The important thing to see here is that it is pure random chance and the odds can be worked out for the possible occurrence of each of the phenotypic combinations. Document1 2016-03-22 3:16:00 PM 21 / 24 BIOL0601Provincial Biology: Module 3: Genetics Materials - 2 cups (like Styrofoam or paper coffee cups) 20 small objects of the same shape and size but of different colours (2 objects of 2 different colours and 2 other objects of different colours representing 2 characteristics with two alleles each) It is important that the last 2 objects be distinguishable from the first two by touch. For example, red and green jelly beans for the first 2 objects and brown and blue gummy bears for the second two objects. (or jelly beans and Smarties) Method The F1 generation 1. Select your objects so as to create an individual heterozygous for each of two characteristics. One characteristic is represented by 2 jelly beans (different colours) and the other by 2 gummy bears (each of different colours). Place these objects in a cup labelled HIS. 2. Label another cup HERS and place the objects in the cup to represent an individual heterozygous for the two characteristics. Notice that the genotypes of these two individuals are identical for these two characteristics, just as would be the F1 individuals in the above example. 3. Since the gamete would contain 1 allele for each characteristic, select 1 jelly bean and 1 gummy bear from one cup. 4. Do the same for the other cup. 5. These four objects represent one offspring. Record the results (use either colour or letter) When the result has been recorded, return the objects to their respective cups. 6. Repeat this until you have the results for 100 “offspring”. Count the genotypes and record the numbers of each genotype in Table 3.3.1 7. Clean up your lab space. If things have been relatively clean, feel free to eat your “experiment”. Results Table 3.3.1 genotype count Thinking About the Results 1. Write the genotypes of the P1 generation Document1 2016-03-22 3:16:00 PM 22 / 24 BIOL0601Provincial Biology: Module 3: Genetics 2. Colour (and letter) of dominant phenotype for each characteristic: characteristic 1 ______________ characteristic 2 ______________ 3. From your data, fill in the following chart: number of F2 individuals with 2 dominant phenotypes number of F2 individuals with 1 dominant and 1 recessive phenotype number of F2 individuals with 1 recessive and 1 dominant phenotype number of F2 individuals with 2 recessive phenotypes 4. The expected phenotypic ratio for the F2 generation is 9 : 3 : 3 : 1. How does yours compare to the expected ratio? How can you explain any differences? 5. In fruit flies normal wings (W) are dominant to stubby wings (w) and hairy abdomen (H) is dominant to hairless abdomen (h). Heterozygous flies (HhWw) were allowed to breed randomly and produce offspring. a. Each gamete produced by a parent would contain 2 alleles (one for each trait). Write the 4 possible combinations of alleles that can be produced. b. Fill in the Punnet Square representing this cross. c. Document1 What genotypes would be expected in the offspring and in what proportion? 2016-03-22 3:16:00 PM 23 / 24 BIOL0601Provincial Biology: Module 3: Genetics d. If 150 flies were produced, how many individuals of each of the phenotypes would we expect? (show your work) Congratulations, you have now completed Lab 3C. Document1 2016-03-22 3:16:00 PM 24 / 24