Biology Genetics Principles of Inheritance Part 1: Outline An introduction to Heredity o Offspring acquire genes from parents by inheriting chromosomes. o Like begets like, more or less: a comparison of sexual and asexual reproduction. The Role of Meiosis in Sexual Life Cycles o Fertilization and meiosis alternate in sexual life cycles. o Meiosis reduces chromosome number from diploid to haploid. Origins of Genetic Variation o Sexual life cycles produce genetic variation among offspring. Objectives 1. Explain why organisms reproduce only their own kind and why offspring more closely resemble their parents than unrelated individuals of the same species. 2. Explain what makes heredity possible. 3. Diagram the human life cycle and indicate where in the human body that mitosis and meiosis occur; which cells are the result of meiosis and mitosis; and which cells are haploid. 4. List the phases of meiosis I and Meiosis II and describe the events characteristic of each phase. Recognize the phases of meiosis from diagrams or micrographs. 5. Describe the process of synapsis during prophase I and explain how genetic recombination occurs. 6. Describe the key differences between mitosis and meiosis. Explain how the end result of meiosis differs from that of mitosis. 7. Explain how independent assortment, crossing over, and random fertilization contribute to genetic variation in sexually reproducing organisms. Key Terms Heredity Variation Karyotype Gene Asexual reproduction Locus Clone Sexual reproduction Life cycle Sex chromosomes Autosome Gamete Haploid cell Fertilization Syngamy Zygote Diploid cell Homologous chromosome 1 Gametophyte Meiosis I Meiosis II Synapsis Tetrad Chiasmata Crossing over Recombinant chromosome Somatic cell Biology Genetics Part 2: Outline Gregor Mendel’s Discoveries o Mendel brought an experimental and quantitative approach to genetics. o By the law of segregation, the two alleles for a character are packaged into separate gametes. o By the law of independent assortment, each pair of alleles segregates into gametes independently. o Mendelian inheritance reflects rules of probability. o Mendel discovered the particulate behavior of genes. Extending Mendelian Genetics o The relationship between genotype and phenotype is rarely simple. Mendelian Inheritance in Humans o Pedigree analysis reveals Mendelian patterns of inheritance. o Many human disorders follow Mendelian patterns of inheritance. o Technology is providing new tools for genetic testing and counseling. Objectives 1. Describe the favored model of heredity in the 19th century prior to Mendel. 2. Explain how observations by Mendel and others and Mendel’s hypothesis of inheritance differed from the blending theory of inheritance. 3. Define true breeding, hybridization, monohybrid cross, P generation, F 1 generation, and F2 generation. 4. Use a Punnett square to predict the results of a monohybrid cross and state the phenotypic and genotypic ratios of F1 and F2 generations. 5. Distinguish between the following pairs of terms: dominant and recessive; heterozygous and homozygous; genotype and phenotype. 6. Explain how a testcross can be used to determine if a dominant phenotype is homozygous or heterozygous. 7. Use a Punnett square to predict the results of a dihybrid cross and state the phenotypic and genotypic ratios of the F1 and F2 generations. 8. Define Mendel’s law of independent assortment. 9. Given an example of incomplete dominance and explain why it is not evidence for the blending theory of inheritance. 10. Explain how the phenotypic expression of the heterozygote is affected by complete dominance, incomplete dominance, and co-dominance. 11. Describe the inheritance of the ABO blood system and explain why the I A and IB alleles are said to be co-dominant. 12. Define and give examples of pleiotropy and epistasis. 13. Describe a simple model for polygenic inheritance and explain why most polygenic characters are described in quantitative terms. 14. Given a simple family pedigree, deduce the genotypes for some of the family members. 15. Explain how a lethal recessive gene can be maintained in a population. 2 Biology Genetics 16. Describe the inheritance and expression of cystic fibrosis, Tay-Sachs disease, and sickle-cell anemia. 17. Explain why consanguinity increases the probability of homozygosity in offspring. 18. Explain why lethal dominant genes are much rarer than lethal recessive genes. 19. Explain how carrier recognition, fetal testing, and newborn screening can be used in genetic screening and counseling. Key Terms Character Trait True-breeding Hybridization P generation F1 generation F2 generation Alleles Dominance Recessive Law of segretation Homozygous Heterozygous Phenotype Genotype Testcross Monohybrid Dihybrid Law of independent assortment Incomplete dominance Complete dominance Punnett Square Epistasis 3 Quantitative characters Polygenic inheritance Norm of reaction Multifactorial Pedigree Carrier Amniocentesis Chorionic villus sampling (CVS) Codominance Pleiotropy Biology Genetics Part 3: Outline Relating Mendelism to Chromosomes o Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles. o Morgan traced a gene to a specific chromosome. o Linked genes tend to be inherited together because they are located on the same chromosome. o Independent assortment of chromosomes and crossing over produce genetic recombinants. o Geneticists can use recombination data to map a chromosome’s genetic loci. Sex Chromosomes o The chromosomal basis of sex varies with the organism. o Sex-linked genes have unique patterns of inheritance. Objectives 1. Describe the contribution of Thomas Hunt Morgan to current understanding of chromosomal inheritance. 2. Define and compare linked genes and sex-linked genes. Explain why the inheritance of linked genes is different from independent assortment. 3. Explain how Sturtevant created linkage maps. 4. Explain how genetic maps are constructed for genes located far apart on a chromosome. 5. Explain how sex is genetically determined in humans. 6. Explain why sex-linked genes are more common in human males. 7. Describe the inheritance patterns and symptoms of color blindness, Duchenne muscular dystrophy, and hemophilia. 8. Distinguish among nondisjunction, aneuploidy, trisomy, triploidy, and polyploidy. 9. Distinguish among deletions, duplications, inversions, and translocations. Key Terms Wild type Sex-linked gene Inversion Nondisjunction Trisomic Polyploidy Duplication Genetic recombination Aneuploidy Monosomic 4 Deletion Linked gene Translocation Genetic map Linkage map