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BSC 1010 Exam 3 Study Guide ! This study guide is intended to provide you with a basic outline of exam content, help you organize the material, and direct you to the most important concepts. Take time to fill out this guide referring to your textbook, handouts, classmates and myself as necessary. You will do very well on the exam if you successfully complete this study guide and understand the concepts it outlines. Best of luck! Chapter 12: Patterns of Inheritance 1. Early ideas of heredity • Mendelʼs Experiments disproved the theory of blending 2. Monohybrid cross: • a cross to study only 2 variations of a single trait 3. Dihybrid cross • a cross to study 2 variations of two traits 3. Define/ Describe: a. Genotype: b. Phenotype: c. Dominant trait: d. Recessive trait: e. Gene: f. Allele: g. Homozygous: h. Heterozygous: i. Carrier: • Genotype of a carrier: • Phenotype of a carrier: 1 BSC 1010 Exam 3 Study Guide 4. Principle of segregation: • what does it state? • how does it account for genetic variation? 5. Principle of independant assortment: • what does it state? • how does it account for genetic variation? 6. Test Cross • why is a test cross performed? • be prepared to use a test cross to determine if parent organism is homozygous dominant or heterozygous: 7. Extensions to Mendel: Other Types of Inheritance: • Define/ Describe: a. Polygenic Inheritance: • show continuous variation referred to as quantitative traits: b. Pleiotropy: c. Incomplete dominance: d. Codominance: • Human blood typing • genotypes and phenotypes for blood types • be prepared to determine blood type using Punnett square e. Environmental influences can affect gene expression (Epigenetics) f. Epistasis: • Be prepared to determine genotypic and phenotypic ratios using Punnett squares, see practice template attached. 2 BSC 1010 Exam 3 Study Guide Chapter 13: Chromosomes, Mapping, and the Meiosis-Inheritance Connection 1. Chromosomal Theory of Inheritance: • proposed that genes are present on chromosomes • based on observations that homologous chromosomes pair with each other during meiosis and that particular traits could be associated with X chromosome of fruit flies. 2. Sex Chromosomes • Sex chromosomes vs. autosomes • Sex determination in humans: • Male chromosomes: • Female chromosomes: • Define/ Describe: a. Sex-linked trait: b. Autosome: • How do the patterns of expression of sex-linked traits differ from those of genes on autosomes: • X-linked traits seen more commonly in which gender, why? • Dosage Compensation: • ensures equal expression of genes on sex chromosomes in both sexes • Barr body: • Genetic mosaic: • phenotype depends on which X chromosome inactivated 3 BSC 1010 Exam 3 Study Guide 3. Chromosome Theory Exceptions • Mitochondria and Chloroplasts have their own genomes • traits controlled by these genes do not follow the chromosomal theory of inheritance • Maternal inheritance: 4. Genetic Mapping • The science of determining the location of a gene on a chromosome • Based on the recombination frequency of genes 5. Human Genetic Disorders • Faulty genes code for faulty primary structure of proteins • Sickle cell anemia: • protein affected? • how is the protein changed by the mutation? • how does this affect protein structure and function to cause disease? • Nondisjunction: • define/ describe: • how/ when does it occur? • monosomy: • trisomy: • provide an example of a trisomy genetic disorder: 6. Genetic Imprinting • occurs when the phenotype exhibited by a particular allele depends on which parent contributed the allele to the offspring 4 BSC 1010 Exam 3 Study Guide Chapter 15: Genes 1. The Nature of Genes • Genes code for proteins • What does it mean to ʻexpressʼ a gene? • Connection was made by linking a disease as result of a nonfunctioning enzyme to an altered gene • One Gene - One Protein Hypothesis: • The Central Dogma of Molecular Biology: Describes the flow in information from genes to protein • Replication: • DNA to DNA • Where in cell: • When during cell cycle: • How (what enzymes, structures are involved): • DNA polymerases • Mutations: • Briefly describe each step: 1. Initiation: 2. Elongation: 3. Termination: 5 BSC 1010 Exam 3 Study Guide • Transcription: • DNA to RNA • type of RNA produced: • Where in cell: • When during cell cycle: • How (what enzymes, structures are involved): • DNA coding strand vs. template strand • RNA polymerases • Transcriptional Unit (on the DNA) 1. Promoter 2. Coding region 3. Terminator sequence • Post-Transcriptional modifications of mRNA transcript • introns vs. exons • Briefly describe each step: • Initiation: • Elongation: • Termination: 6 BSC 1010 Exam 3 Study Guide • Translation: • RNA to Protein • Where in cell: • When during cell cycle: • How (what enzymes, structures are involved): • Ribosome • mRNA • codon • tRNA • anticodon • Wobble pairing • Briefly describe each step: 1. Initiation: 2. Elongation: 3. Termination: • The Genetic Code • The code is degenerate: • there are 64 codes for 22 amino acids • how is this protective against mutations? • The code is universal: • There are start codons: • Why do many proteins begin with the amino acid methionine? • There are stop codons: 7 BSC 1010 Exam 3 Study Guide • Mutations 4. Point Mutations: • Base-Substitutions: a. Missense mutations: b. Nonsense mutations: c. Frameshift mutations: • insertions or deletions d. Silent mutations: • Which of the point mutations will most likely have the most deleterious effects on the cell and why? 5. Triplet Repeat Expansion Mutations: 6. Chromosomal Mutations: • Change the structure of the chromosome and affect multiple genes a. Deletions: b. Duplications: c. Inversions: d. Translocations: • How do chromosomal mutations differ from point mutations? • How do chromosomal mutations differ from chromosomal aberrations like those observed with Down Syndrome and Turner Syndrome? 8