Human Genetics and Medicine - BIOL 72    EXAM II - March 10, 2011    NAME:

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

Part I: [45 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.  1.25  point each

1.  The degrees of freedom for analyzing the genotypes for one gene is
    a.  1
    b.  2
    c.  3
    d.  4
    e.  5

2.  Retrospective analysis methods include
    a.  graphing or plotting data
    b.  χ2 analysis   [χ is the Greek letter “chi”]
    c.  developing a revised hypothesis
    d.  a and b
    e.  all of the above

3.  The human fertilized egg (zygote) contains            chromosomes
    a.  92
    b.  22
    c.  46
    d.  23
    e.  44

4.  Biological macromolecules include
    a.  nucleic acids, proteins, carbohydrates, lipids
    b.  sugars, amino acids, DNA, RNA, fat
    c.  any long chain of carbons
    d.  a and b
    e.  all of the above

5.  Assuming that we start with diploid cells, the result of mitosis is
    a.  1 2N daughter cell
    b.  2 1N daughter cells
    c.  2 2N daughter cells
    d.  4 1N daughter cells
    e.  4 2N daughter cells

6.  Prospective analysis methods include
    a.  working out probability problems
    b.  using the binomial expansion and Pascal’s triangle
    c.  thinking about what one expects to happen under specific circumstances
    d.  a and b
    e.  all of the above

7.  There are          nuclear divisions during meiosis
    a.  1
    b.  2
    c.  3
    d.  4
    e.  a different number each time, depending on circumstances

8.  In order to analyze the class coin toss data,
    a.  prospective analysis is used to predict outcomes
    b.  χ2 analysis can be used to decide whether individual tossed their coins fairly
    c.  χ2 analysis is more accurate for the data from the entire class than for any individual
    d.  a and b
    e.  all of the above

9.  The term "wild type" indicates
    a. organisms found outside captivity
    b. the accepted "standard" strain of an organism, or allele of a gene (genotype or phenotype)
    c. organisms particularly prone to mutate
    d. organisms out of control
    e. organisms which breed true

10.  χ2 analysis takes into account
    a.  predictions based on prospective analysis
    b.  expected ratios
    c.  sample size
    d.  a and b
    e.  all of the above

11.  Meiosis produces
    a.  gametes
    b.  somatic cells
    c.  all cells of the body
    d.  X and Y chromosomes
    e.  autosomes

12.  A man with a rare recessive disorder marries a woman who is phenotypically normal.  If the woman is homozygous at that locus, the probability that their offspring will have the disorder is
    a. 0% because the disease is rare
    b. 0% because the child will receive a dominant allele from the mother
    c. 100% because the child would receive the trait from the father
    d. 50%
    e. 25%

13.  A child of the parents described above marries a heterozygote at this locus. The probability that they will have a child with the disorder is:
    a. 0% because the disease is rare
    b. 0% because the child will receive a dominant allele from the mother
    c. 100% because the child would receive the trait from the father
    d. 50%
    e. 25%

14.  To identify the genotype of yellow-seeded pea plants as either homozygous dominant (YY) or heterozygous (Yy), one would do a test cross using plants of genotype
    a.  y
    b.  Y
    c.  yy
    d.  YY
    e.  Yy

15.  You obtain a sample chi-square value of χ2 = -5.49, from which can be inferred that
    a.  observed frequencies are lower than the expected frequencies across all cells
    b.  there is a negative association between your two variables
    c.  you have made a calculation error; chi-square values cannot be negative
    d.  the observed frequencies are higher than the expected frequencies for at least half of your rows
    e.  the sample size was too small

16.  Two people of normal phenotype have had a child with Niemann-Pick disease, a lethal recessive trait.  What is the probability that their next child will be afflicted?
    a. 1 (100%)
    b. 1/2 (50%)
    c. 1/4 (25%)
    d. 3/4 (75%)
    e. not possible to predict from information given

17.  A phenotypic ratio of 3:1 among offspring of a cross between two organisms heterozygous for a single gene is expected when
    a.  the alleles separate randomly and independently during meiosis
    b.  each allele contains two mutations
    c.  the alleles are identical
    d.  the alleles are incompletely dominant
    e.  only recessive traits are scored

18.  Non-disjunction can occur during
    a.  the first meiotic event
    b.  the second meiotic event
    c.  spermatogenesis
    d.  oogenesis
    e.  a and b
    f.  c and d
    g.  all of the above

19.  The number of chromosomes in a gamete (any gamete) is
    a.  1N
    b.  2N
    c.  4N
    d.  46
    e.  23 pairs

20.  The degrees of freedom for analyzing the phenotypes for one gene is
    a.  1
    b.  2
    c.  3
    d.  4
    e.  5

21.  The p and q terms in the binomial expansion or Pascal’s triangle represent
    a.  the probability of outcome 1 = p and the probability of any other outcome = q
    b.  the exponent of p represents the number of occurrences of outcome 1
    c.  the exponent of q represents the number of occurrences of not-outcome 1
    d.  n = the line number = the number of attempts in a group
    e.  all of the above

22.  An organism's expressed physical trait, such as seed color or pod shape, is its
    a.  genotype   
    b.  cytosol
    c.  phenotype
    d.  gamete
    e.  trait

23.  A description of an individual's alleles is called its
    a.  phenotype
    b.  genotype
    c.  DNA
    d.  RNA
    e.  genome

24.  When writing out a Pascal’s triangle,
    a.  there is a 1 at both ends of each line, and only for the first and last terms in each line
    b.  the number of the line (n) is the 2nd and the 2nd to the last numbers of that line
    c.  each other number (in the middle of the line) is the sum of the 2 numbers diagonally above it
    d.  a and b
    e.  all of the above


25.  A chromosome with its centromere located in the middle is
    a.  metacentric
    b.  telocentric
    c.  submetacentric
    d.  acrocentric
    e.  holocentric

26.  Assuming that we start with diploid cells, the result of meiosis is
    a.  1 2N daughter cell
    b.  2 1N daughter cells
    c.  2 2N daughter cells
    d.  4 1N daughter cells
    e.  4 2N daughter cells

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 Ib.  For each of the following specify the cell cycle stage at which the event occurs: choices are:  Go , G1 , G2 , S, or prophase, metaphase, anaphase, telophase: for these, specify - mitosis, I, II, or any/all; does not happen at all.  If more than one answer is correct, include all correct terms.

          1.  Chromatin condenses

          2.  Homologous chromosomes come together and align

          3.  Sister chromatids separate

          4.  DNA is replicated; sister chromatids are formed

          5.  Diploid nuclei form

          6.  Homologous chromosomes segregate

          7.  Tetrads line up at equator

          8.  Cells are engaged in normal cellular behavior and growth

          9.  Haploid nuclei form

          10.  Fertilization


Part II: [ 15 points]  What is the probability of  (always assuming no cheating or "unfair" circumstances): [put actual answer on the line; show work for partial credit (if correct)]


          1.  tossing a coin twice and getting one heads and one tails?
        

          2.  tossing a penny and a nickel at the same time and getting heads on the penny and tails on the nickel?
        

          3.  tossing two coins at the same time and getting both heads?
        

          4.  tossing two coins at the same time and getting one heads and one tails?

        

          5.  throwing two dice,  and getting a 2 on one & a 1 or 3 on the other?

        

          6.  throwing two dice,  and getting both 5's?

        

          7.  throwing two dice,  and getting a sum of 5?


        
          8.  tossing three identical coins at the same time and getting one heads and two tails?



          9.   drawing a jack from a well shuffled complete deck of cards?



          10.   drawing a spade from a well shuffled complete deck of cards and rolling a 5 on a single die ?

        
        

              Extra Credit.  the person to your right being female [ if you are in the seat the furthest to the right, use "the person to your left" ]?

Part III: [ 15  points]  While you are working as a genetic counselor, a couple asks you for advice.  They have had one child who died of Tay Sachs, a lethal recessive disorder.  They hope to have more children, and want to know:   [put actual answer on the line; show work for partial credit (if correct)]

    a. What is the chance that their next child will have Tay Sachs?


    b.  If their next child is healthy, what is the chance that the third child will be healthy as well?



    c. What is the chance of their having four normal children, in their next four attempts?



    d. What is the chance of their having four normal girls, in their next four attempts?


        e.  If there is a prenatal test for Tay Sachs, why might this couple chose to have such a test done with subsequent pregnancies?  That is, for what purpose would such a test be done?


Part IV: [ 25 points]  For each of the following, draw the simplest possible Punnett square which completely demonstrates all the possible outcomes, and write out the proportions of outcome genotypes & phenotypes (be sure that you indicate which genotypes or phenotypes correspond to the numbers.  e.g. 2Q : 5q is the same as Q : q = 2:5 ;   3QQ : 7Qq : 2qq or QQ : Qq: qq = 3:7:2).

gamete genotypes    offspring genotypes        offspring phenotypes



                                    1.  HH x hh





                                    2.  Gg x gg





                                    3.  Qq x Qq






                                    4.  EeHh  x eehh







                                    5.  AaBb x AaBb