Unit 8 Objectives: Genetics By the end of this unit, you should be able to 1. Discuss Mendel’s work. 2. Distinguish between genotype and phenotype, heterozygous and homozygous, dominant and recessive traits. 3. Use a Punnett square to predict the results of monohybrid and/or dihybrid crosses and state the phenotypic and genotypic ratios of each. 4. Use the laws of probability to calculate the chances of an individual having a specific genotype or phenotype. 5. Define and give an example of pleiotropy, epistasis, polygenic inheritance, co-dominance and incomplete dominance. 6. Describe the inheritance and expression of sickle cell anemia, Tay-Sachs, and Huntington’s. 7. Given a simple family pedigree, deduce the genotypes for the family members. 8. Describe what the term multifactorial means and give two examples. 9. List and describe two tests that can be completed to screen for genetic disorders. What ethical and social issues are associated with this? 10. State Mendel’s Laws. 11. Describe the inheritance and expression of Down’s and Klinefelter’s Syndrome. 12. Explain how linked and sex-linked genes are inherited. 13. Explain situations where the genome has evolved to respond to the environment. 14. Understand the use of the Chi Square test in studying data from genetic crosses. 15. Understand how restriction enzymes and gel electrophoresis are used to isolate DNA fragments. 16. Describe DNA cloning and how it can be used to induce bacteria to produce eukaryotic gene products. 17. Know the practical uses of Southern Blotting and PCR. Free Response 1. State the conclusions reached by Mendel in his work on the inheritance of characteristics. Explain how each of the following deviates from these conclusions: a. Autosomal linkage b. Sex-linked (X-linked) inheritance c. Polygenic (multiple-gene) inheritance 2. Discuss Mendel's laws of segregation and independent assortment. Explain how the events of meiosis I account for the observations that led Mendel to formulate these laws. 3.A.3. The chromosomal basis of inheritance provides an understanding of the pattern of passage (transmission) of genes from parent to offspring. a. Rules of probability can be applied to analyze passage of single gene traits from parent to offspring. b. Segregation and independent assortment of chromosomes result in genetic variation. 1. Segregation and independent assortment can be applied to genes that are on different chromosomes. 2. Genes that are adjacent and close to each other on the same chromosome tend to move as a unit; the probability that they will segregate as a unit is a function of the distance between them. 3. The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/ phenotype and/or the offspring phenotypes/genotypes. c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. To foster student understanding of this concept, instructors can choose an illustrative example such as: •Sickle cell anemia •Tay-Sachs disease •Huntington’s disease •X-linked color blindness •Trisomy 21/Down syndrome •Klinefelter’s syndrome d. Many ethical, social and medical issues surround human genetic disorders. To foster student understanding of this concept, instructors can choose an illustrative example such as: •Reproduction issues •Civic issues such as ownership of genetic information, privacy, historical contexts 3.A.4. The inheritance pattern of many traits cannot be explained by simple Mendelian genetics. a. Many traits are the product of multiple genes and/or physiological processes. 1. Patterns of inheritance of many traits do not follow ratios predicted by Mendel’s laws and can be identified by quantitative analysis, where observed phenotypic ratios statistically differ from the predicted ratios. b. Some traits are determined by genes on sex chromosomes. To foster student understanding of this concept, instructors can choose an illustrative example such as: •In mammals and flies, females are XX and males are XY; as such, X-linked recessive traits are always expressed in males. 3.C.1. Changes in genotype can result in changes in phenotype. c. Errors in mitosis or meiosis can result in changes in phenotype. 1. Changes in chromosome number often result in new phenotypes, including sterility caused by triploidy and increased vigor of other polyploids. [See also 3.A.2] 2. Changes in chromosome number often result in human disorders with developmental limitations, including Trisomy 21 (Down syndrome) and XO (Turner syndrome). 4.C.2. Environmental factors influence the expression of the genotype in an organism. a. Environmental factors influence many traits both directly and indirectly. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Height and weight in humans b. An organism’s adaptation to the local environment reflects a flexible response of its genome. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Alterations in timing of flowering due to climate changes