Human Genetics and Medicine - BIOL 72    EXAM I - February 8, 2011    NAME:

DO NOT USE ANY OTHER PAPER AT ANY TIME WITHOUT INSTRUCTOR PERMISSION

Part I: [20 points] answer four; omit two  Define, explain, and/or illustrate each of the following [related] terms: be sure that you have both explained the meaning of each of the terms and distinguished each from the other term.  Be sure to include both the similarity and the distinction.  5 points each

a.  gene  -  allele






b.  chromatin  - chromosome






c.  sister chromatid - homologous chromosome






d. egg - sperm






e. homozygous  – heterozygous






f.  phenotype - genotype






bonus: Write a question that you studied for, and forgetful me, I neglected to ask.  Answer your question.  PLEASE ask yourself something you can answer well!  PLEASE answer the question you actually ask.  [up to 5 points awarded based on question & answer]Part II: [50 points]  Choose the one BEST answer.  Circle its letter. Read each question and all 5 choices carefully because more than one answer might seem correct at first glance.  2  point each

1. DNA synthesis occurs
    a. during interphase before meiosis
    b. during interphase before mitosis
    c. during prophase of mitosis
    d. a and b
    e. all of the above

2.  Homologous chromosomes have the same _____ in the same _____.
    a. alleles .... loci
    b. genes .... loci
    c. alleles .... genes
    d. loci .... genes
    e. DNA .... genes

3.  Protein synthesis is called
    a.  replication
    b.  transcription
    c.  translation
    d.  duplication
    e.  copying

4. The human genome
    a.  is about 2 meters of DNA, if it is stretched out and the chromosomes laid end to end
    b.  is all the genes found in every human
    c.  varies from person to person, in terms of alleles but not in terms of genes
    d.  a and b
    e.  all of the above

5.  Mitochondrial DNA is most similar to (a)
    a.  virus
    b.  bacteria
    c.  fungus
    d.  plants
    e.  the nuclear DNA in the cell containing the mitochondrion

6.  The goal of people who use the scientific method is to
    a.  understand something better
    b.  prove that something is true
    c.  disprove something
    d.  do an experiment
    e.  make a hypothesis

7.  Haploid cells include
    a.  gametes
    b.  sperm    
    c.  ova
    d.  a and b
    e.  all of the above

8.  Which of the following best describes the general flow of information?
    a.  DNA –> protein –> RNA –>translation –> transcription
    b.  DNA –> transcription –> RNA –> translation –> protein
    c.  RNA –> transcription –> DNA –> translation –> protein
    d.  DNA –> transcription –> RNA –> protein –> translation
    e.  RNA –> DNA –> protein –> translation –> transcription

9.  Proteins attach or become associated with DNA
    a.  at the major and minor groove
    b.  through magnetic attraction
    c.  through mRNA
    d.  using vesicles
    e.  during protein synthesis

10.  According to the scientific method, after a hypothesis fails what the next step?
    a.  make an observations
    b.  devise a test
    c.  predict results
    d.  develop a new hypothesis
    e.  quit all together.

11.  Humulin is
    a.  originally constructed from pig genetic information
    b.  made in bacteria
    c.  human insulin
    d.  a and b
    e.  all of the above

12.  At the end of mitosis, the progeny nuclei are
    a.  diploid
    b.  haploid
    c.  polyploid if there is no cytokinesis
    d.  the same ploidy as their parent nuclei
    e.  half the ploidy of their parent nuclei

13.  The central dogma describes all of the following functions EXCEPT
    a.  DNA and RNA synthesis
    b.  protein synthesis
    c.  DNA conversion to RNA
    d.  replication
    e.  none of the above - all are part of the central dogma

14.  A theory
    a.  summarizes of group of well-tested hypotheses
    b.  is an initial hypothesis about how something works
    c.  is a statement of something that has been proven true
    d.  tells why things work but not how
    e.  tells how things work but not why

15.  At what stage of mitosis does the nuclear envelope disappear .... reappear?
    a. interphase ... telophase
    b. prophase ... telophase
    c. end of prophase ... telophase
    d. metaphase ... telophase
    e. end of prophase ... anaphase

16.  A chromosome is made of
    a. one piece of DNA with associated protein and RNA
    b. euchromatin and heterochromatin
    c. chromatin
    d. a and b
    e. all of the above

17.  A particular phenotype is the result of one’s
    a.  genes
    b.  alleles
    c.  environment
    d.  upbringing and personal history
    e.  all of the above contribute

18.  The scientific method is central to the study of
    a.  evolutionary genetics
    b.  populations and ecosystems
    c.  the genetics of plants and animals, but not people
    d.  a and b
    e.  all of the above

19.  A locus is a(n)
    a.  position on a chromosome
    b.  insect
    c.  gene
    d.  banding pattern
    e.  protein bound to DNA

20.  DNA with proteins wrapped into a compacted form is (a)
    a.  chromosome
    b.  RNA
    c.  mitochondrion
    d.  nucleus
    e.  protein

21.  The wild type allele
    a.  is the best allele
    b.  is the strongest allele
    c.  is the oldest allele, tracing back to early humans
    d.  is the allele found in the most people
    e.  is dominant

22. Which of the following is NOT part of the scientific method?
    a.  observe
    b.  develop a hypothesis
    c.  create a proof based on results
    d.  devise a test
    e.  compare data to prediction

23.  In anaphase of mitosis
    a.  chromosomes break apart at the centromere to form chromatids
    b.  chromatids break apart at the centromere to form chromosomes
    c.  the centromere breaks apart so that chromatids can move apart
    d.  the centromere breaks apart so that chromosomes can move apart
    e.  DNA separates form protein so that each daughter cell gets all the DNA it needs

24.  The three major domains of life are
    a.  Archaea, Bacteria and Fungi
    b.  Prokaryote, Eukaryote and Bacteria
    c.  Bacteria, Archaea and Eukarya
    d.  Bacteria, Prokaryote and Archaea
    e.  Archaea, Fungi, Eukarya

25.  A gamete is
    a.  an egg or sperm
    b.  haploid
    c.  pollen or seed
    d.  a and b
    e.  all of the above


Part III: [30 points] Answer each question completely and clearly.

1.  Explain why and how scientists investigate human conditions by using other organisms (8 points)











2.  Fill in the table for each of the following human genes.  The letters for the gene’s name is given in all uppercase; you must decide what should really be upper and lower case in the symbol. [12 points]

trait     achondroplasia (ACH)     Gaucher disease (GD)
which is passed on as ...    - dominant (a type of dwarfism)     recessive (a lysosomal storage disorder)
wild type allele        
mutant allele        
dominant allele        
recessive allele        
“normal” genotype(s)        
“abnormal” genotype(s)            


3.  Draw a “typical” cell, including 10 distinctive structures.  For each labeled structure, briefly indicate its main function.  (10 points:  ½ point each structure, each function)