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1 AP Biology Unit 5 Packet-Classical Genetics/Heredity Chapters 11-12 Topics: Textbook Correlations Law of Segregation & Law of Independent Assortment Laws of Probability govern Mendelian Inheritance Inheritance Patterns beyond Mendelian Genetics Pedigree and Disorders Sex-linked genes Linked genes Abnormalities 11.1 11.2 11.3 11.4 12.2 12.3 12.4 Key Terms a. b. c. d. e. f. g. h. i. j. k. l. m. Gregor Mendel Nondisjunction Deletion Inversion Duplication Translocation Locus Allele Dominant Recessive Homozygous Heterozygous Phenotype n. o. p. q. r. s. t. u. v. w. x. y. z. Genotype Law of dominance Law of segregation Law of independent assortment Incomplete dominance Codominance Epistasis Pleiotrophy Autosomes Hemophilia Color blindness Sex-linked traits Carrier Recommended work for Chapters 11-12: Concept Checks Self-Quizzes 2 AP Biology Unit 5 Packet-- Classical Genetics/Heredity Classical Genetics (Mendelian Genetics) Gregor Mendel: The Father of Genetics What is genetics? In its simplest form, genetics is the study of heredity. It explains how certain characteristics are passed on from parents to children. Much of what we know about genetics was discovered by the monk Gregor Mendel in the 19th century. Since then, the field of genetics has vastly expanded. As scientists study the mechanisms of genetics, they’ve developed new ways of manipulating genes. For example, scientists have isolated the gene that makes insulin, a human hormone, and now use bacteria to make large quantities of it. But before we get ahead of ourselves, let’s study the basic rules of genetics. Explain the chromosomal theory of inheritance. Differentiate between genes, alleles, genotype, and phenotype. Explain the difference between dominant and recessive inheritance. 3 AP Biology Unit 5 Packet- Classical Genetics/Heredity Explain Mendel’s Law of Segregation. Explain Mendel’s Law of Independent Assortment. Explain and give examples of the following genotypes: homozygous dominant; heterozygous; homozygous recessive. 4 AP Biology Unit 5 Packet-- Classical Genetics/Heredity Demonstrate two generations of a monohybrid cross using a Punnett square. Identify the P1 generation, F1 generation, and F2 generation. Demonstrate a dihybrid cross using a Punnett Square. What is the significance of the famous phenotypic ratio of 9:3:3:1? Explain what each number represents. 5 AP Biology Unit 5 Packet-- Classical Genetics/Heredity Explain a test cross and how it is used. Beyond Mendelian Genetics These are the basics of inheritance. However, genes do not operate in isolation from one another; this makes genetics more complex than Mendel’s experiments and the Punnett square might suggest. Many different factors can affect phenotype and genotype in offspring. Explain and give examples of the following topics: 1. Incomplete dominance 2. Codominance 6 AP Biology Unit 5 Packet-- Classical Genetics/Heredity 3. Epistasis 4. Polygenic inheritance 5. Multiple alleles 6. Linked genes 7 AP Biology Unit 5 Packet-- Classical Genetics/Heredity 7. Pleiotrophy 8. Genetic recombination Human Genetic Disorders Explain a single-gene defect. Describe the following single-gene defects. Autosomal recessive disorders (a) Sickle-cell anemia (b) Phenylketonuria (PKU) (c) Cystic fibrosis 8 AP Biology Unit 5 Packet-- Classical Genetics/Heredity (d) Tay-Sachs disease Autosomal dominant disorders (a) Achondroplastic dwarfism (b) Huntington’s disease (c) Osteogenesis imperfecta Explain sex-linked disorders (inheritance). What is the role of the mother and of the father in sex-linked inheritance? 9 AP Biology Unit 5 Packet-- Classical Genetics/Heredity Describe the following sex-linked disorders: (a) Hemophilia (b) Red-green color blindness (c) Duchenne’s muscular dystrophy Explain what Barr bodies are and how they are formed. What is a pedigree? 10 AP Biology Unit 5 Packet-- Classical Genetics/Heredity Draw out a pedigree to show the inheritance pattern of a sex-linked recessive disorder. Draw out a pedigree to show the inheritance pattern of an autosomal dominant disorder. Disorders Involving Whole Chromosomes Explain nondisjunction. 11 AP Biology Unit 5 Packet-- Classical Genetics/Heredity Describe the following nondisjunction disorders: (a) Trisomy-21 (Down Syndrome) (b) Turner’s syndrome (c) Klinefelter’s syndrome Detection of Abnormal Chromosomes By Amniocentesis and Karyotyping Describe the process of amniocentesis. What is a karyotype and how is it used? 12 AP Biology Unit 5 Packet-- Classical Genetics/Heredity Grid-In Questions 1. In pea plants T = Tall, t = dwarf, R = Round seeds, and r = wrinkled seeds. If a TtRr plant is crossed with a Ttrr plant, what fraction of the offspring will be tall and wrinkled? Answer__________ 2. In fruit flies gray body is dominant to black body and normal wings are dominant to vestigial wings. Flies heterozygous for both gray bodies and normal wings were crossed with flies that had black bodies and vestigial wings. The following results were obtained: Phenotype Number of Flies Gray body/normal wings 482 Gray body/vestigial wings 472 Black body/vestigial wings 103 Black body/normal wings 92 The results indicate that the genes for wings and body color are on the same chromosome. The recombinant offspring are a result of crossing over. How many map units (expressed as a percent) apart are the two genes? The formula for calculating frequency is: Recombination Frequency = number of recombinants/ total number of offspring X 100 13 AP Biology Unit 5 Packet-- Classical Genetics/Heredity Essay #1 Geneticists can determine which genes will be expressed in offspring by tracking inheritance patterns and using Punnett squares. (a) Explain the role of alleles in determining the genotype and phenotype of offspring. (b) Discuss the purpose of a “test cross.” Create a sample Punnett square for the test cross of the alleles Aa and AA, where A is the dominant allele. Explain the outcome of the cross. (c) Suppose the dominant allele H codes for Huntington’s disease. If one parent has the alleles HH and the other parent has the alleles Hh, will any of their children have Huntington’s disease? Explain why and how you came to your conclusion. 14 AP Biology Unit 6 Packet-- Classical Genetics/Heredity Essay #2 Discuss Mendel’s laws of segregation and independent assortment with respect to (a) genes that are not linked (b) genes that are linked (c) crossing over (d) sex-linkage (e) Down syndrome (f) Turner syndrome