Happy Holidays!
Final Exam Review Sheet 2007
Exam date Wednesday December 19th 2007 2:00-3:50
Exam format:
20 fill-in the black questions (5 from
each section --exam 1, 2, 3 and new material) 1 point
each
16 short answer questions (4
from each section) 3 points each
5 problems/longer questions (1 each from exam 1, 2 and 3 material, 2 on new stuff)
6 points each
10 multiple choice (genetic disease questions)1 point
each
Total possible points = 108
The exam will be cumulative. Approximately 15-25% of the exam will be on new material that we have covered since the last exam. The remaining 75-85% will be on material from previous exams.
I have made a review outline for the new material and have edited the review sheets for the old material to exclude some topics. If you see something that was on an old review sheet that is now missing, it means you are not responsible for that particular material. Do try to keep in mind what are some of the bigger concepts that we have covered during the course. Use your exams to get an idea of the type of questions I may ask. They may be very similar or even the same. Remember what I said way back in September about wanting students to know the answers to a few basic questions (I posed these questions on the first day, see chapter 1) by the time the course was over. I could very well ask those questions. One thing that I know I will not ask you to do is solve a three point testcross. I may ask why or how one is done, but won't ask you to solve the problem. The one type of problem I am sure to ask is a dihybrid cross. Do remember that 15-25% of the questions will be on the relatively small amount of material that we have covered since exam 3, and that these questions will be more challenging. Hope this is helpful. As usual, feel free to contact me with any questions you may have.
The old stuff:
Exam 1
Chapter 2 Mitosis and Meiosis
 | What are chromosomes? What is the difference between chromatin and chromosomes? |
| Be able to distinguish between chromosome, sister chromatids and nonsister chromatids. |
| What is a karyotype? |
| Humans have 46 chromsomes, 23 pairs. 22 pairs of autosomes and 1 pair of sex chromsomes. |
| Be sure to know what a homologous pair of chromosomes is. |
| Review the Cell cycle. When does replication of DNA occur? |
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| Review the stages of meiosis. (don't worry about sub stages of prophase 1) |
| When does crossing over occur? |
| What is the purpose of Meiosis? |
| In what cells does meiosis occur? |
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What are gametes? |
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Understand the terms: monohybrid cross, dihybrid cross, P generation, F1 generation and F2 generation. |
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Know the terms homozygous or heterozygous. |
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What are alleles? How many alleles does an individual have? How many alleles does a gamete have? How many alleles can there be in a population of organisms? |
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Understand the difference between dominant and recessive traits. |
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Know the terms genotype and phenotype. How do they differ? |
Monohybrid cross This is a cross involving a single pair of contrasting traits (monohybrid)
P (parental) PP X pp (crossing truebreeding parents)
F1 Genotype: Pp
Phenotype: purple
F2 ¼ PP + ½ Pp + ¼ pp Genotypes
¾ purple and ¼ white Phenotypes
A standard monohybrid cross results in a 1:2:1 genotypic
ratio and a 3:1 phenotypic ratio
Dihybrid cross This is a cross involving two pairs of contrasting traits (dihybrid)
| PP = purple | BB = short |
| Pp = purple | Bb = short |
| pp = white | bb = tall |
P (parental) PPBB X ppbb OR PPbb X ppBB (crossing truebreeding parents -- note that either parent shown will
result in the same F1)
F1 Genotype: PpBb
Phenotype: purple, short
F2 1/16PPBB, 2/16 PPBb, 1/16 PPbb, 2/16 PpBB, 4/16 PpBb, 2/16
Ppbb, 1/16ppBB, 2/16ppBb, 1/16 ppbb Genotypes
9/16 purple, short 3/16 purple tall 3/16 white short and 1/16 white tall Phenotypes
A dihybrid cross results in a 1:2:1:2:4:2:1:2:1 genotypic ratio and a 9:3:3:1 phenotypic ratio
| Review the branch line diagram method of determining F2 phenotypic and genotypic ratios. |
**Keep in mind that the above examples of monohybrid and dihybrid crossed are by definition starting with a standard cross of truebreeding parents, and the resulting F2 ratios will always be the same as shown above no matter what trait or pair of traits you are considering. However it is possible to look at individual matings of particular organisms which will not be truebreeding, and the resulting ratios will not be the same as above. The nature of the cross would have to be specified in some way, and the resulting phenotypes and genotypes would be calculated in a similar manner.**
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| Be familiar with what a testcross is, how it is done, and what the results tell
you. Always cross to a homozygous recessive. |
Chapter 4 Extensions of Mendelian Genetics
This whole chapter deals with situations which alter the standard monohybrid and dihybrid phenotype ratios (3:1, 9:3:3:1). When gene expression does not adhere to a simple dominant/recessive mode, or when more than one pair of genes influences the expression of a single character, the classic ratios are modified. Nevertheless, the fundamental principles of segregation and independent assortment still hold true in these situations. | Incomplete dominance -- the heterozygote has an intermediate
phenotype. phenotype ratio = genotype ratio in a standard monohybrid or dihybrid
cross. Example : four o'clocks R1R1 = red, R1R2 = pink, R2R2 = white R1R2 x R1R2 ----> 1/4 R1R1, 2/4 R1R2, 1/4 R2R2 = 1/4 red, 2/4 pink, 1/4 white |
| Codominance --the heterozygote shows phenotype of both alleles. phenotype
ratio = genotype ratio in a standard monohybrid or dihybrid cross. Example: MN blood groups. |
| Multiple alleles -- For any given gene the number of alleles
within members of a population is not restricted to two. Multiple alleles = 3
or more alleles for a given gene. Any individual diploid organism has at most two
alleles of any gene. Example: ABO Blood groups. Three alleles: IA, IB, and IO. IA, IB are dominant to IO. IA is codominant to IB. Table 4.1 shows the various ratios of offspring that can result from different crosses. |
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Lethal alleles -- Many gene products are
essential to an organism's survival. When a mutant allele is present in may be
lethal for the individual.
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Be able to distinguish between the different types of inheritance, and be able to apply these types of inheriance to new examples. | ||||||
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Combinations of two gene pairs involving two modes of inheritance modify the 9:3:3:1 ratio -- see Figure 4-5. Be able to do this type of cross. |
| Epistasis -- an example of gene interaction; occurs when the expression of one gene pair masks or modifies the expression of another gene pair. The involved genes control the expression of the same general phenotypic trait. Has the effect of combining one or more of the four phenotypic categories of a standard dihybrid cross in various ways. |
| Remember, in epistasis, even though only one characteristic is being followed (flower color for example), the phenotype ratio is expressed in 16 parts. This is a way to see that epistasis is occurring |
| Be familar with the inheritance of sex-linked traits |
Exam 2
Chapter 5: Linkage, Crossing over, and Mapping
| What is linkage? | ||
| What is the difference between complete linkage and linkage with recombination? | ||
| Be able to distinguish between independent assortment, linkage, and linkage with recombination. | ||
| Crossover occurs between non-sister chromatids of a homologous pair of chromosomes. When does crossover occur? | ||
| As distance between genes on the same chromosome increase, the degree of crossing over increases (and the number of recombinant gametes increases) | ||
| Three point testcross:
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Chapter 7: Sex Determination and Sex Chromosomes
| Klinefelter and Turner syndrome
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| What is the SRY? What would happen if a female had a copy of this gene? If a male lost this gene? | ||||||
| Dosage compensation by X inactivation | ||||||
| What are Barr bodies? Where are they located? How many are present in different individuals? | ||||||
| Mosaicism -- the Lyon hypothesis states that females are mosaics for all heterozygous X linked alleles. |
Chapter 8: Variation in Chromosome Number and Arrangement
| Is monosomy tolerated in plants? Animals? |
| Downs syndrome = trisomy of chromosome 21, caused by nondisjunction |
| Edwards syndrome = trisomy 18 |
| Patau syndrome = trisomy 13 |
| Polyploidy (triploid, tetraploid, etc) |
| How is polyploidy tolerated in plants? Animals? |
| Be able to distinguish between autoploidy and alloploidy |
| How are tetraploids made artificially? Naturally? |
| Be able to recognize a karyotype and correctly indicate the chromosome arrangement (number of chromosomes, sex chromosomes, deviation from normal) for the above disorders/conditions |
| review the types of chromosomal rearrangements: deletion, inversion, duplication, nonreciprocal translocation, reciprocal translocation. |
| What is the difference between a paracentric inversion and a pericentric inversion? |
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Chapter 9: Extranuclear Inheritance
| review sections 9.2, 9.3 and 9.5, and class notes |
| What is extranuclear inheritance? |
| What is maternal effect? How is this different than maternal inheritance of mitochondrial DNA? How is it diff. than X-linkage? |
Chapter 10: Chemical Structure of DNA
| DNA = the genetic
material. Several important characteristics:
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| Know the components of a nucleotide | ||||||||||||||
| The four nitrogenous bases in DNA are G, A, T , and C. A and G are the purine, C and T are the pyrimidines | ||||||||||||||
| What type of bond links nucleotides together? | ||||||||||||||
| Review and understand the features of the Watson
and Crick Model of DNA:
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| Be able to appropriately label OR DRAW diagram of DNA with the above features | ||||||||||||||
| How is molecule held together by "weak" hydrogen bonds? | ||||||||||||||
| How many hydrogen bonds between G and C? A and T? |
Chapter 11: Replication of DNA
| Replication always occurs 5' to 3' (see Figure 11.8) | ||||||||||||
| DNA Polymerase requires 3' end to initiate synthesis, so requires RNA primer (see Figure 11-11, 11-12 | ||||||||||||
| Leading strand synthesis is continuous, 5' to 3' | ||||||||||||
| Lagging strand synthesis is discontinuous, 5' to 3'. Many points of initiation necessary because trying to replicate one way, and 5' to 3' is in the opposite direction. | ||||||||||||
| Okazaki fragments --the short pieces of DNA synthesized from primers on the lagging strand. | ||||||||||||
| DNA Polymerase = dimer, synthesizes both strands simultaneously | ||||||||||||
| FIGURE 11-13. Know
what all of the proteins illustrated are doing for the replication process and be able to
identify them in a figure:
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Exam 3
Chapter 12: DNA organization in Chromosomes
| Review chromatin structure info on pages 292-295 and nucleosome structure |
| What proteins are associated with DNA? What is the nature if the interaction? |
| review Figure 12-9 |
| what is meant by chromosome remodeling? |
| What does modification of histones by acetylation,
methylation or phosphorylation do? |
Chapter 13: The
Genetic Code and Transcription
Chapter 17: Regulation of Gene Expression in Eukaryotes
| review the characteristics of the genetic code (p. 307) | ||||||||||||
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| know how to determine amino acid sequence for a given mRNA sequence. | ||||||||||||
| Prokaryotic Transcription See Figure 13.9
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| Eukaryotic Transcription
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Chapter 14: Translation
| Figure 14-1 Ribosomes consist of small and large subunits, made up of both proteins and rRNA | ||||||
| Figure 14-3 tRNA structure (where is anticodon loop?/where does amino acid bind?) | ||||||
| Charging of tRNAs. Figure 14-5
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| Translation: Figures 14-6, 14-7, 14-8
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The new stuff:
Don't forget to review the diseases for the final exam.
Don't skim new stuff--a large part of the exam will be on this material. There will one problem from chapter 19 and one from chapter 22.
Chapter 19: Recombinant DNA Technology
| What is recombinant DNA? | ||||||||||||||
| Basic procedure in recombinant DNA technology involve a series of steps -- see your notes or p. 458 | ||||||||||||||
| Restriction enzymes
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| Be familiar with the plasmid vector pUC18
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| How can this vector be used to distinguish between bacterial cells that have non-recombinant plasmid and those that have recombinant plasmid or no plasmid? | ||||||||||||||
| Figure 19-13 overview of steps involved in cloning DNA with a plasmid vector | ||||||||||||||
| Polymerase chain reaction. Figure 19-17 Know the basic procedure and its applications. What temperatures are used and why? | ||||||||||||||
| Southern blotting. Figure 19-24. Know the basic procedure and its applications | ||||||||||||||
| Sequencing: FIGURE 19-26, 19-27 Know the procedure, how to "read" a gel and its applications. |
Chapter 22: Applications and Ethics of Genetic Technology
| How is amniocentesis done, and what kind of analysis can be done with samples obtained? |
| How can an individual with thalassemia or sickle cell anemia be identified by recombinant DNA techniques? What are the steps involved in this procedure? (see Figure 22-9) |
| What are ASOs? How can they be used for genetic testing? Be able to analyze results of these types of experiments (see figures 22-10. 22-11 ) |
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| What are RFLPs? How can they be used for gene mapping? (linkage analysis) |
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There will none of Chapter 18 on the exam.
Chapter 18: Genetics of Cancer--ONLY
WHAT WE GET TO IN CLASS
Much of the material we spoke about on cancer was not from the book, but from
the two cancer lab handout introductions, and my own other sources, so definitely refer to
your notes.
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