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Biology Unit 4 –Meiosis & Mendelian Genetics Topics Chromosomes Meiosis & Gametogenesis Genetic Variation Inheritance patterns Sex-linked Inheritance Linked Genes Mutations Key Terms a) b) c) d) e) f) g) h) i) j) k) l) m) n) o) p) q) r) s) t) u) v) w) x) y) z) Chromosome Chromatid Sex chromosomes Autosomes Binary fission Mitosis Interphase Centromere Prophase Metaphase Anaphase Telophase Cytokinesis Diploid cell Haploid cell Homologous chromosomes Gametes Meiosis Germ line Crossing over Sister chromatids Alleles Gametogenesis Nondisjunction Deletion Inversion Textbook Correlation Concepts 10-2 Concepts 10-3 Concepts 10-4 Concepts 11.1-11.4 Concept 12.2 Concept 12.3 Concepts 12.4 Duplication Translocation Locus Allele Dominant Recessive Homozygous Heterozygous Phenotype Genotype Law of dominance Law of segregation Law of independent assortment Incomplete dominance Codominance Epistasis Pleiotrophy Autosomes Hemophilia Color blindness Sex-linked traits Carrier Suggested work: Concept Checks Test Your Understanding 1 Biology Unit 4 –Meiosis & Mendelian Genetics Offspring acquire genes from parents by inheriting chromosomes. Define genes:____________________________________________________________ In animals and plants, reproductive cells that transmit genes from one generation to the next are called _________________________. There are two types of reproduction, asexual and sexual. Describe each one. Asexual reproduction Sexual reproduction Human chromosomes come in pairs called homologues. So while there are 46 of them altogether, there are actually only 23 distinct chromosomes. The homologous chromosomes which make up each pair are similar in size and shape and express similar traits. This is the case in all sexually reproducing organisms. In fact, this is the essence of sexual reproduction: Each parent donates half its chromosomes to its offspring. Gamates What are gametes and where do they come from? Are gametes haploid or diploid? (Circle one) Meiosis Meiosis is very similar to mitosis. The major distinction is that meiosis consists of two groups of divisions, meiosis I and meiosis II. Summarize the phases of meiosis I: 1. Prophase I, include synapsis, tetrad, chiasmata, and crossing over. **Understanding prophase I is critical to understanding meiosis. Study the unique events of prophase I carefully** 2 Biology Unit 4 –Meiosis & Mendelian Genetics 2. Metaphase I 3. Anaphase I 4. Telophase I Summarize meiosis II: 1. Prophase II: 2. Metaphase II: 3. Anaphase II: 4. Telophase II: Meiosis and fertilization are the key events in sexually reproducing life cycles. The human life cycle in figure 10.5 is typical of a sexually reproducing animal. Reproduce figure 10.5. 3 Biology Unit 4 –Meiosis & Mendelian Genetics Organize Your Thoughts In Prophase I: 1. Synapsis occurs, forming___________________. 2. ______________ __________ occurs between ________________ ________________ in the tetrads. 3. Crossing over increases __________________ _________________. 4. Areas of crossing over form __________________________. Genetic Variation In mitosis, every daughter cell is exactly like the parent cell. Meiosis and sexual reproduction, however, result in a reassortment of the genetic material. This reassortment, called genetic recombination, originates from three events during the reproductive cycle: Describe the following three sources of variation. 1. Crossing over: 2. Independent assortment of homologues: 3. Random joining of gametes: 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. 4 Biology Unit 4 –Meiosis & Mendelian Genetics Explain the chromosomal theory of inheritance. Differentiate between genes, alleles, genotype, and phenotype. Explain the difference between dominant and recessive inheritance. 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. 5 Biology Unit 4 –Meiosis & Mendelian Genetics 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. 6 Biology Unit 4 –Meiosis & Mendelian Genetics 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 3. Epistasis 7 Biology Unit 4 –Meiosis & Mendelian Genetics 4. Polygenic inheritance 5. Multiple alleles 6. Linked genes 7. Pleiotrophy 8. Genetic recombination 8 Biology Unit 4 –Meiosis & Mendelian Genetics 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 (d) Tay-Sachs disease Autosomal dominant disorders (a) Achondroplastic dwarfism 9 Biology Unit 4 –Meiosis & Mendelian Genetics (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? Describe the following sex-linked disorders: (a) Hemophilia (b) Red-green color blindness 10 Biology Unit 4 –Meiosis & Mendelian Genetics (c) Duchenne’s muscular dystrophy Explain what Barr bodies are and how they are formed. What is a pedigree? Draw out a pedigree to show the inheritance pattern of a sex-linked recessive disorder. 11 Biology Unit 4 –Meiosis & Mendelian Genetics Draw out a pedigree to show the inheritance pattern of an autosomal dominant disorder. Disorders Involving Whole Chromosomes Explain nondisjunction. Describe the following nondisjunction disorders: (a) Trisomy-21 (Down Syndrome) (b) Turner’s syndrome 12 Biology Unit 4 –Meiosis & Mendelian Genetics (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? Some Inheritance Patterns are Exceptions to Standard Mendelian Inheritance In mammals, geneticists have identified traits that differ, depending on which parent passed along the allele for those traits. This phenomenon is called genomic imprinting. Explain genomic imprinting. 13 Biology Unit 4 –Meiosis & Mendelian Genetics Grid-In Questions (numerical responses) 1. A yeast cell in the early portion of interphase of meiotic cell division has 24 fg of DNA (fg = 1 x 10-15 grams). If the yeast cell completes meiotic division to form four haploid cells, how many fg of DNA would be expected in each haploid cell? Answer:___________ 2. 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:___________ 3. 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 Gray body/normal wings Gray body/vestigial wings Black body/vestigial wings Black body/normal wings Number of flies 482 472 103 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 recombination frequency is: Recombination Frequency = number of recombinants / total number of offspring x 100 14 Biology Unit 4 –Meiosis & Mendelian Genetics 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. 15 Biology Unit 4 –Meiosis & Mendelian Genetics 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 16 17 Biology Unit 5 --Cell Reproduction--Mitosis & Meiosis Essay #3 Describe the process of cell division in plants and animals giving specific attention to the following: a. The stages of mitosis, cytokinesis, and other phases of the cell cycle. Biology Unit 5 --Cell Reproduction--Mitosis & Meiosis 18 Essay #2 Describe meiosis in animal cells giving special attention to the following: a. The stages of meiosis. b. The function of meiotic daughter cells and the organs where meiosis takes place. c. Contribution to genetic variation. 19