CHAPTER 12: PATTERNS OF INHERITANCE WHERE DOES IT ALL FIT IN? Chapter 12 applies the information on meiosis covered in Chapter 11 to the principles of classical inheritance. Students are likely to have many misconceptions about inheritance patterns and they usually do not connect meiosis to inheritance. It is important to reinforce to students the goals and outcomes of meiosis before starting this chapter. Chapter 12 will serve as an important reference for Chapter 13. SYNOPSIS Early geneticists believed that genetic material from each parent blended in the offspring and that variability was not introduced from outside the species. Blending and lack of variability, though, should result in individuals that greatly resemble rather than differ from one another. This paradox was partly solved by early plant breeders who found that hybrids differed greatly from their parents and often from one another. They reported that certain physical traits disappeared for a generation and reappeared in the next. Gregor Mendel cross-bred seven well-documented varieties of a pea. Most importantly, he quantified his experiments, meticulously counted seeds of hundreds of crosses and grouped them by apparent physical traits. Mendelian genetics is derived from the mathematical ratios that describe the segregation and assortment of hereditary material. Mendel’s model states that each parent transmits a set of information about its traits in its gametes. Therefore, each individual possesses two factors (genes) for each trait. Each factor exhibits many possible forms (alleles) that do not influence one another; each remains discrete within the cell. An individual may be homozygous and possess two identical alleles, or heterozygous and have two different alleles. The presence of a factor does not ensure its expression; dominant traits are expressed while recessive traits are generally not expressed. The existence of the recessive allele in a heterozygote causes that factor to be masked for a generation. Additionally, there is a difference between an individual’s phenotype, or overall appearance, and its genotype, its precise genetic blueprint. Mendel’s First Law of Heredity explains how alleles randomly segregate in the gametes, each gamete has an equal chance of receiving either allele. His second law explains that different alleles assort into gametes independently of one another, the presence of an allele of one trait does not preclude the presence or absence of any other allele of any other trait. LEARNING OUTCOMES Understand the historical background for Mendel’s pea experiments. Know the key details in Mendel’s experiments that enabled him to postulate his laws of inheritance where others had failed. State Mendel’s model of heredity and Sutton’s theory of chromosomal inheritance. Understand how gene segregation and independent assortment are different but yet related. 98 Calculate expected phenotypic and genotypic ratios from various crosses using the Punnett square method. Explain the experimental rationale behind the classical testcross. Explain how Mendelian inheritance changes with respect to continuous variation, pleiotropic genes, lack of complete dominance, environmental modifications of genes, and epistasis COMMON STUDENT MISCONCEPTIONS There is ample evidence in the educational literature that student misconceptions of information will inhibit the learning of concepts related to the misinformation. The following concepts covered in Chapter 12 are commonly the subject of student misconceptions. This information on “bioliteracy” was collected from faculty and the science education literature. Students believe that sexual reproduction is merely for increasing populations Students have trouble connecting the events of meiosis with germ cell formation Students have trouble connecting the events of meiosis with patterns of inheritance Students think that traits skip generations Students do understand that a Punnett square represents offspring probabilities Students believe that gender in all organisms is determined by X and Y chromosomes Students confuse the roles of autosomes and sex chromosomes Students do not associate gene expression with inherited characteristics Students believe sexual reproduction always involves mating Students do not understand other mechanisms of sexual reproduction besides mammalian reproduction Students do not fully understand the role of genetics and environment on determining observable variation in organisms Students believe acquired characteristics can be inherited Students think that all genetic disorders are homozygous recessive Students believe that inbreeding causes genetic defects Students do not take into account the role of crossing over in classical inheritance variation Students believe that chromosomes are segregated into gametes that contain either a pure maternal or pure paternal homologous sets INSTRUCTIONAL STRATEGY PRESENTATION ASSISTANCE Mendelian genetics is one of the classic discussions in introductory biology. Most students are introduced to this in high school, but few really understand what is meant by segregation and independent assortment. Segregation of alleles is hard to visualize without a good understanding of meiosis. One can truly respect Mendel’s scientific ability when realizing that neither chromosomes nor meiosis had been discovered yet. The most frequent mistake a beginner makes in calculating a dihybrid cross is putting the two alleles for the same trait in a single gamete. Make them separate (segregate) those letters! A 99 normal gamete can have only one of each allele. There is a lot of new terminology associated with genetics. Homozygous and heterozygous are frequently confused as are phenotype and genotype and, for some strange reason, allele and locus. Again, understanding the meanings of prefixes, suffixes, and root words helps enormously. A background in a romance language has enormous benefits. Many of your students are medical-school bound and relate to the topic of this chapter because they see its direct application to their futures. Examining one’s own genetic background is to some extent health-oriented fortune telling. By studying the ailments of one’s parents, grandparents, and other relatives, a picture of one’s own future begins to develop. Most serious diseases are not under strict genetic control, but research indicates a strong genetic component in many, including cancer and heart disease. HIGHER LEVEL ASSESSMENT Higher level assessment measures a student’s ability to use terms and concepts learned from the lecture and the textbook. A complete understanding of biology content provides students with the tools to synthesize new hypotheses and knowledge using the facts they have learned. The following table provides examples of assessing a student’s ability to apply, analyze, synthesize, and evaluate information from Chapter 11. Application Analysis Synthesis Have students predict a monohybrid cross Punnett square for a simple trait in their family. Have students explain why a family who had four females children in a role sit have an equal change of having a boy or a girl as the next child. Ask students explain the relationship between meiosis and the assignment of alleles in a Punnett square. Ask students to hypothesize why inbreeding populations are likely to have an abundance or a lack of genetic disorders. Ask students explain the effects of a 4N complement of DNA on the expression of traits. Ask students to explain why certain characteristics appear very rarely in a population of organisms. Ask students to come up with a reason why gender in alligators does not follow the predicted Mendelian pattern of inheritance. Have students explain why a certain dominant characteristic only appears in male offspring of an organism and does not show up in females. 100 Evaluation Ask students to explain how child of a father with type AB blood and mother with type O blood was born with type O blood. Ask students evaluate the benefits of drugs claiming to slow down the genetic progression of aging. Ask students to discuss the pros and cons of inbreeding crops and agricultural animals. Ask students to evaluate the impact of crossing over during meiosis on polygenic traits. VISUAL RESOURCES Many different kinds of apparatus are available to illustrate Mendelian genetics, including modeling clay and pop-it beads. Several very sophisticated bead kits are sold through biological supply houses; unfortunately, most are too small to be useful in a class larger than twenty-five students. Much of the visual material is better handled in the lab, after initial exposure to the basics in the lecture. Try to keep the genetics-oriented lab instructors from showing too many of their own short-cuts. Have them stick to the old Punnett square. Students that derive short cuts on their own may gain a better understanding of the material. IN-CLASS CONCEPTUAL DEMONSTRATIONS A. Animated Karyotype Introduction This fun and fast demonstration engages students in developing a human karyotype. The click and drag animation allows the instructor to interact with students while selecting chromosomes to build a karyotype diagram. Materials Computer with live access to Internet LCD projector attached to computer Web browser with bookmark to Karyotype Animation at: http://www.gla.ac.uk/medicalgenetics/nhs/karyotypemovie.htm Procedure & Inquiry 101 1. 2. 3. 4. 5. 6. Introduce the concept of karyotyping Pull up the Karyotype Animation website Touch the cursor to a chromosome and watch where it ends up on the karyotype diagram See if the students can match it with the homologous chromosome Repeat several times until the diagram is complete Ask the students to describe the features used to match up the pairs of homologous chromosomes B. Virtual Punnett Practice Introduction This demonstration uses an on-line animated Punnett square to review the calculation of offspring probabilities. It immediately draws the Punnett squares for monohybrid and dihybrid crosses. In addition, it gives the offspring probability ratios. The animation is useful for in-class formative evaluation of Mendelian inheritance. Materials Computer with live access to Internet LCD projector attached to computer Web browser with bookmark to Punnett Square Calculator at: http://www.changbioscience.com/genetics/punnett.html Sheets of writing paper for students Procedure & Inquiry 1. 2. 3. 4. 5. 6. Introduce the topic of meiosis and how it related to Punnett squares. Pull up the Punnett Square Calculator Pick a simple monohybrid cross from the drop-down windows Ask the students to write the Punnett square for cross Then show the cross Repeat this with several crosses while questioning and surveying students about their ansswers USEFUL INTERNET RESOURCES 1. Breast cancer is an excellent teaching model for evaluating the Mendelian inheritance of genetic disorders. It also evaluates other factors that contribute to the expression of genes. The Program on Breast Cancer and Environmental Risk Factors at Cornell University has an informative website looking a breast cancer risk factors. This website can be found at http://envirocancer.cornell.edu/. 2. Cold Spring Harbor Laboratory provides a valuable website for teaching the basic genetics needed to understand classical patterns of inheritance. It provides many animated discussions and videostreams of Mendelian genetics. The website can be found 102 at http://www.dnaftb.org/dnaftb/. 3. Animations are a pedagogical tool known to reinforce the teaching of complex concepts such as meiosis. This website hosted by PBS provides a useful narrated movie of animated meiosis. This website is available at: http://www.pbs.org/wgbh/nova/baby/divi_flash.html. 4. Case studies are a wonderful way to reinforce complex concepts related to classical genetics. A case study provided by the University of Buffalo uses skin color as a model for understanding the outcomes of polygenetic traits. The website can be found at http://www.sciencecases.org/skin_color/skin_color_notes.pdf. LABORATORY IDEAS The mathematical calculation of Mendelian offspring probabilities is best reinforced when students are able to see the outcomes of genetic crossing. This activity uses genetic corn as a model for investigating the probabilities of various dihybrid crossing. a. Provide a group of students with the following materials without tell them anything about the genetic nature of the corn ears: a. Ear of pure smooth yellow corn b. Ear of pure yellow wrinkly corn c. Ear of heterozygous X heterozygous corn cross - purple/yellow: smooth/wrinkled d. 4 X 4 Punnett square diagram as shown below: 103 e. b. First ask the students to explain the differences between the three ears of corn. c. Have students discuss which corn is typical of edible corn and whether that is the natural characteristics that would be found in a large population of corn left to grow in the wild. d. Instruct the students to use the Punnett square to calculate the offspring probabilities of breeding two corn parents heterozygous for kernel color and shape. Provide students with the following information: a. Purple - P (dominant) b. Yellow - p (recessive) c. Smooth - S (dominant) d. Wrinkly - s (recessive) They should calculate a 9:3:3:1 ratio e. Now tell the students if they believe the purple/yellow corn has a 9:3:3:1. f. Ask them how they would determine this using the corn given to them. g. Direct the students to count the different types of kernels on the purple/yellow corn. They should be questioned to see if they recognize the four different types of kernels h. Have the students determine how close they came to a 9:3:3:1 ratio from counting kernels on the purple/yellow ear of corn. They should record their information on a table such as provided below: Phenotype: _______ ______ _______ _______ Number: _______ _______ _______ _______ Ratio: ______ : ______ : ______ : ______ i. Have the students hypothesize the genotypes of the yellow smooth and yellow wrinkly corn. Ask them which corn will always produce pure lineages of offspring that resemble the parents. Also ask the students how the corn sold in groceries stores is bred to have its characteristics. 104 LEARNING THROUGH SERVICE Service learning is a strategy of teaching, learning and reflective assessment that merges the academic curriculum with meaningful community service. As a teaching methodology, it falls under the category of experiential education. It is a way students can carry out volunteer projects in the community for public agencies, nonprofit agencies, civic groups, charitable organizations, and governmental organizations. It encourages critical thinking and reinforces many of the concepts learned in a course. 1. Have students present a forum on the benefits and risks of monoculture to a civic group. 2. Have students design an educational animated PowerPoint presentation about Mendelian genetics for middle school teachers. 3. Have students tutor middle school or high school biology students studying classical genetics. 4. Have students present a talk to elementary students about the inheritance of genetic disorders. This project is funded by a grant awarded under the President’s Community Based Job Training Grant as implemented by the U.S. Department of Labor’s Employment and Training Administration (CB-15-162-06-60). NCC is an equal opportunity employer and does not discriminate on the following basis: against any individual in the United States, on the basis of race, color, religion, sex, national origin, age disability, political affiliation or belief; and against any beneficiary of programs financially assisted under Title I of the Workforce Investment Act of 1998 (WIA), on the basis of the beneficiary’s citizenship/status as a lawfully admitted immigrant authorized to work in the United States, or his or her participation in any WIA Title I-financially assisted program or activity. This workforce solution was funded by a grant awarded under the President’s CommunityBased Job Training Grants as implemented by the U.S. Department of Labor’s Employment and Training Administration. The solution was created by the grantee and does not necessarily reflect the official position of the U.S. Department of Labor. 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