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Name _________________________________________ Chapter 13 Study Guide Patterns of Inheritance Objectives: 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. 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. Understand the importance of crossing over in terms of gene assortment and construction of genetic maps. Describe the many genetic disorders discussed in the text, their symptoms, relative frequency in specialized populations, and their genetic basis. Understand the consequences of nondisjunction at various stages of gametogenesis and its affect on the sex chromosomes. Understand the value and purpose of genetic counseling and describe two techniques of prenatal genetic screening. Key Terms (Understand meanings in context, and give examples if applicable codominant hybridizations ABO blood groups character Rh blood group segregating pedigree self-fertilization hemophilia cross-fertilization sickle cell anemia pure-breeding gene transfer therapy first filial generation chromosomal theory of inheritance dominant mutant recessive X chromosome second filial generation (F2) Y chromosome Mendelian ratio sex-linked alleles crossing over homozygous genetic recombination heterozygous genetic map genes centimorgan locus three-point cross genotype wild type phenotype autosomes Punnett square sex chromosomes Law of Segregation Barr body testcross gene conversion dihybrids monosomics Law of Independent Assortment trisomics continuous variation Down syndrome pleiotropic amniocentesis epistasis chorionic villi sampling 13.1 Patterns of Inheritance Did you know that diarrhea is hereditary? It runs in the ‘genes’! A. Name 5 Dominant and 5 Recessive Traits B. Which 7 traits did Mendel study in pea plants? C. When Mendel crossed pure breeding purple flowering plants with pure breeding white flowering plants, what were the results in the F1 generation? In the F2 generation? D. What is the difference between the law of Segregation and the law of Independent Assortment? E. In a dihybrid cross, how many parent genotypes are possible in the gametes? How many phenotypes are possible in the offspring? F. What does a 9:3:3:1 ratio mean? G. In reality, not all genes act as clearly as the 7 traits in Mendel’s studies. Explain what is meant by each term below: Continuous Variation, Epistasis, Pleiotropic Effects, Incomplete Dominance, Environmental Effects * There will be many opportunities in class to solve problems using your understanding of genetics. 13.2 Human Genetics follows Mendelian principles. H. Give an example of a disease caused by a dominant allele. How does this disease remain in the population? I. Describe Tay-Sach’s Disease. J. Complete a Punnett Square for a man with type AB blood and a woman with type O blood. Notice that the symbols are written differently, because there are 3 different alleles. K. Why is hemophilia more prevalent in men than in women? (Related history: Do you know what became of Czar Nicolas and his family?) How would you show 2 parents and three children (2 boys and a girl) on a Pedigree? L. Thoroughly describe sickle-cell anemia. What causes it, what are the physical traits, the symptoms, and the benefit of having one copy of the gene? M. Explain what is meant by a vector. How were vectors expected to cure cystic fibrosis? What problems occurred, and what is the current outlook in using gene therapy? 13.3 Genes On Chromosomes N. The chromosomal theory of inheritance states that it is on chromosomes that Mendel’s “factors” reside. However, there are more characters that assort independently than the number of chromosomes. Explain what this means and how it was resolved. (Include the terms “crossing over” and “genetic recombination”. O. Explain, in one or two sentences, why none of the female drosophila in Morgan’s F2 generation had white eyes. Could the next generation include females with white eyes? P. You made a genetic map in your meiosis lab. The units are now known as centimorgans. What does a genetic map tell you? How is it made? Q. An inactive X chromosome is called a Barr body. In a female, are all the Barr bodies the same in all cells? R. Read the section on “Why are X and Y Chromosomes so Different?” Describe how editing works on the 22 autosomes and the X chromosome, and compare with editing on the Y chromosome. S. Which types of trisomics can survive? Name a defect caused by a trisomy. T. Copy the Punnett square shown in Figure 13.37. Additionally, name the syndrome caused by nondisjunction of the Y chromosome. U. Practice Problem: In tomato plants, red tomato color (R) is dominant to yellow (r). How can a farmer be sure that the seeds from his red tomato plants will breed true red, and not yellow?