You are on page 1of 4


2201 Genetics: Study Guide for Final Exam

Spring 2012

This guide is not guaranteed to be all-inclusive. You are responsible for all material covered in lecture. However, I have tried to identify the areas I have considered to be most important here. Chapter 2: Chromosomes and Cellular Reproduction What is the purpose of mitosis? What happens to the chromosomes during each stage of mitosis? What happens to chromosome numbers, chromatid numbers, etc. during each stage of mitosis? Explain why meiosis is important Apply the concept of chromosome sets (ploidy) to cell division problems o How many chromosomes/chromatids be present in cells of different chromosome numbers and/or different ploidy levels? Draw the chromosomes in cells with different ploidy levels o Show correct alignment/placement of chromosomes o Distinguish between sister chromatids, homologous vs. non-homologous chromosomes, etc. Explain the process of meiosis, indicating when major events occur Compare and contrast mitosis and meiosis Chapter 3: Basic Principles of Heredity Describe how the results of monohybrid crosses correspond to the Principle of Segregation. Explain the relationship between the Principle of Segregation and meiosis. Explain the relationship between the Principle of Independent assortment and meiosis. Calculate phenotype and genotype outcomes from monohybrid and dihybrid crosses. Use testcrosses to determine the genotype of an unknown phenotype. Know how/when to use multiplication (and) and addition (or) rules to calculate the probabilities of outcomes in multigene crosses. Use a Chi-square test to determine whether the difference between predicted and observed values is (statistically) due to chance. Chapter 4: Sex-Determination & Sex-Linkage Describe the process of sex determination in humans (chromosomes and SRY). Solve problems involving sex-linked inheritance (X- and Y-linked inheritance). Explain why X-inactivation is important, and describe its phenotypic outcome. Chapter 5: Extensions & Modifications of Basic Principles Solve problems involving different types of dominance and multiple alleles. o Complete vs. incomplete vs co-dominance o More than 2 alleles at a locus Identify and differentiate between variable penetrance and expressivity. Calculate (and recognize) skewed offspring ratios resulting from lethal alleles. Determine the ordered dominance relationships of allelic series using cross results. o Ordered dominance o Complementation tests Apply your knowledge of the dihybrid model to identify genotypes. Propose explanations consistent with results of crosses involving gene-gene interactions. o Novel phenotypes o Epistasis (recessive, dominant, and duplicate recessive) o Be able to identify these given data from a dihybrid cross (how do they deviate from the standard 9:3:3:1 ratio, and what does this tell you?) Predict outcomes of crosses for sex-influenced vs. sex-limited traits Understand the role of environment in determining phenotype (important to keep in mind when thinking about our new material!)

Chapter 6: Pedigrees and Genetic Testing Be able to read and interpret a pedigree. Determine the most likely mode of inheritance from a pedigree. o Autosomal dominant, autosomal recessive, X-linked, Y-linked Interpret genetic test results from RFLP analysis (link migration patterns from gel electrophoresis with phenotypic data from pedigrees to determine genotypes of individuals). Chapter 7: Linkage, Recombination, and Mapping Explain how linkage relates to independent assortment. Identify which gametes will be produced from a cross involving completely linked vs unlinked genes. Detect allelic configuration based upon cross results. Determine whether alleles are in coupling or repulsion. Identify parental (non-crossover) vs recombinant (crossover) gametes. Calculate the outcomes of crosses involving linked genes. Given a recombination frequency, calculate the probability of a given genotype and/or phenotype. Be able to map genes onto chromosomes using cross results. Explain what genetic map distance represents. Calculate map distances from recombination frequencies (and vice versa). Conduct and interpret the results of a 3-point cross. Place genes in proper (relative) order. Calculate genetic distances between the loci. Explain why linkage maps do not correspond to physical chromosomal distance. Describe some "modern" mapping techniques for determining genetic and physical distances. Chapter 9: Chromosome Variation Explain the causes/consequences of: deletions, insertions, inversions, and translocations. Draw/identify the formations of aberrant chromosomes in synapsis. Deletions/insertions vs insertions Translocations Relate structural abberations with evolutionary opportunities. Example: duplications of homeobox genes Predict gametes (viable and nonviable) resulting aberrations. Translocations Paracentric vs. pericentric inversions Explain why interspecies hybrids are often sterile. Explain/diagram how nondisjunction in meiosis and mitosis can lead to aneuploidy and polyploidy. Predict whether nondisjunction would most likely occur during mitosis, meiosis I, or meiosis II. Compare/contrast creation and effects of autopolyploids vs allopolyploids. Calculate chromosome numbers for instances of aneuploidy and polyploidy. Monosomy vs Trisomy vs Nullisomy Chapter 10: DNA Explain the different tasks of the "information molecule". Describe/draw a double-stranded DNA molecule, and explain how this structure allows it to fulfill the tasks of the "information molecule". Describe the different bonds integral to the basic structure of DNA. Compare and contrast DNA vs RNA. Construct an RNA sequence that would form a hairpin structure.

Chapter 11: Chromosome Structure Describe the process and advantages of supercoiling/packing. Compare and contrast DNA packing in prokaryotes vs eukaryotes. Indicate how the level (tightness) of DNA packing relates to gene expression. What evidence associates "puffs" on polytene chromosomes with gene expression? Chapter 12: Replication Explain the chemistry behind why DNA can only replicate 5 to 3. Explain how we know that DNA synthesis is semi-conservative interpretation of 14N vs. 15N incorporation experiments Describe how prokaryotic replication differs from eukaryotic (compare/contrast) Chapter 13: Transcription Transcribe an RNA molecule from a DNA template. Proper base-pairings and directionality What would be effects of mutations on different components of the transcription machinery? List ways that eukaryotic transcription differs from prokaryotic (compare/contrast) Chapter 14: RNA Processing Compare the structure of a pre-mRNA transcript to a mature mRNA transcript. Which regions are added? Which are removed? Draw and explain how different mRNAs can come from the same pre-mRNA sequence (alternative processing). Compare/contrast processing in prokaryotes vs. eukaryotes. What accounts for these differences? Chapter 15: Translation Describe important features of the genetic code. Codons/anticodons Degeneracy/wobble Start/stop codons Translate DNA into protein, accounting for directionality. Be able to read a codon table (will be provided) Chapter 16+17: Control of Gene Expression Identify the regulatory opportunities during gene expression. Describe the lac operon, and be able to apply these concepts to other operons: Negative vs. positive; inducible vs. repressible Lac operon Know functions and interrelation of lacI, lacP, lacO, lacZ, and lacY What are functions of each in absence or presence of lactose? What are phenotypic consequences of mutations in each? Apply your knowledge of the structure and function of operons to partial diploid problems. Compare/contrast prokaryotic vs. eukaryotic regulation

Chapter 18: Gene Mutation Identify different types of mutations at the molecular level. Substitutions, insertions, and deletions Describe the different phenotypic effects of mutations, and be able to identify them from changes in DNA sequences. Loss of function vs. gain of function Silent, neutral, frameshift, missense, nonsense Explain how spontaneous and induced mutations occur, and describe their effects. You do not need to memorize the specific actions of the different mutagenic chemicals, but should understand how they create mutations and be able to apply these effects to the types of mutations created. Explain some ways in which DNA mutations are repaired + phenotypic consequences of mutations in these repair systems. Chapter 19: Genetic Engineering Describe how the sequence of DNA is experimentally determined using ddNTPs Describe how DNA can be replicated in a test tube using PCR Describe the steps needed to create rDNA and transgenic organisms How/why are restriction enzymes used? Describe a strategy for distinguishing bacteria containing rDNA from those that do not. What are cloning vectors? How are they used? What is cDNA? Why is it used? How is it made? Describe 2 ways to introduce transgenes into eukaryotes List some applications of rDNA technology Explain how gene therapy is being used as a means of treating human diseases Describe some potential effects of GMOs on human health and on the environment Chapter 24: Quantitative Genetics Differentiate between qualitative and quantitative traits. Explain why many traits are quantitative. Calculate outcomes of crosses based on additive polygenic effects. Estimate the number of genes involved based upon cross outcomes. Given P, F1, and F2 data, estimate the number of genes involved. Describe some issues (limitations, cautions, etc.) in interpreting heritability. Chapter 25: Population Genetics Calculate genotypic and allelic frequencies in a Mendelian population. Use the Hardy-Weinberg Law to determine allelic frequencies. Describe how departures from Hardy-Weinberg conditions can lead to change in a populations gene pool. Genetic drift- causes and effects of bottleneck and founder Migration- effects on the genetic variability of populations Mutation- why is the magnitude of this effect often small? Nonrandom mating Assortive mating Inbreeding- given inbreeding coefficient, calculate/interpret effects on allelic freq. Natural selection Explain the advantage of diploidy and heterozygosity in a gene pool.