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260    Chapter 7    Anatomy and Function of a Gene: Dissection Through Mutation




                             PROBLEMS


              Vocabulary                                             5.  Over a period of several years, a large hospital kept
                1.  The following is a list of mutational changes. For each   track of the number of births of babies displaying the
                  of the specific mutations described, indicate which of   trait achondroplasia. Achondroplasia is a very rare
                  the terms in the right-hand column applies, either as a     autosomal dominant condition resulting in dwarfism
                  description of the mutation or as a possible cause.   with abnormal body proportions. After 120,000
                  More than one term from the right column can apply   births, it was noted that 27 babies had been born with
                  to each statement in the left column.                achondroplasia. One physician was interested in de-
                  1.  an A–T base pair in the wild-type gene is   a.  transition  termining how many of these dwarf babies resulted
                    changed to a G–C pair            b.  base          from new mutations and whether the apparent muta-
                  2.  an A–T base pair is changed to a T–A pair  substitution  tion rate in this geographical area was higher than
                  3.  the sequence AAGCTTATCG is changed to   c.  transversion  normal. He looked up the families of the 27 dwarf
                    AAGCTATCG                        d.  deletion      births and discovered that four of the dwarf babies
                  4.  the sequence CAGCAGCAGCAGCAGCAG    e.  insertion  had a dwarf parent. What is the apparent mutation
                    is changed to                                      rate of the achondroplasia gene in this population? Is
                    CAGCAGCAGCAGCAGCAGCAGCAG         f.  deamination   it unusually high or low?
                  5.  the sequence AACGTTATCG is changed to   g.  X-ray     6.  Suppose you wanted to study genes controlling the
                    AATGTTATCG                         irradiation
                  6.  the sequence AACGTCACACACACATCG   h.  intercalator  structure of bacterial cell surfaces. You decide to
                    is changed to AACGTCACATCG       i.  slipped       start by isolating bacterial mutants resistant to in-
                  7.  the sequence AAGCTTATCG is changed to   mispairing  fection by a bacteriophage that binds to the cell
                    AAGCTTTATCG                                        surface. The selection procedure is simple: Spread
                                                                       cells from a culture of sensitive bacteria on a petri
              Section 7.1                                              plate, expose them to a high concentration of
                                                                       phages, and pick the bacterial colonies that grow.
                2.  What explanations can account for the following pedi-  To set up the selection you could (1) spread cells
                  gree of a very rare trait? Be as specific as possible.   from a single liquid culture of sensitive bacteria on
                  How might you be able to distinguish between these   many different plates and pick every resistant col-
                  explanations?                                        ony; or (2) start many different cultures, each
                             I                                         grown from a single colony of sensitive bacteria,
                                                                       spread one plate from each culture, and then pick a
                                                                       single mutant from each plate. Which method
                             II
                                                                       would ensure that you are isolating many indepen-
                                                                       dent mutations?
                             III
                                                                     7.  In a genetics lab, Kim and Maria infected a sample
                             IV                                        from an E. coli culture with a particular virulent bac-
                                                                       teriophage. They noticed that most of the cells were
                3.  The DNA sequence of one strand of a gene from three   lysed, but a few survived. The survival rate in their
                  independently isolated mutants is given here (5′ ends   sample was about 1 × 10 . Kim was sure the bacte-
                                                                                            −4
                  are at left). Using this information, what is the se-  riophage induced the resistance in the cells, while
                  quence of the wild-type gene in this region?         Maria thought that resistant mutants probably already
                                                                       existed in the sample of cells they used. Earlier, for a
                    mutant  1    ACCGTAATCGACTGGTAAACTTTGCGCG
                    mutant  2    ACCGTAGTCGACCGGTAAACTTTGCGCG          different experiment, they had spread a dilute suspen-
                                                                       sion of E. coli onto solid medium in a large petri dish,
                    mutant  3    ACCGTAGTCGACTGGTTAACTTTGCGCG                                   5
                                                                       and, after seeing that about 10  colonies were growing
                4.  Among mammals, measurements of the rate of genera-  up, they had replica-plated that plate onto three other
                  tion of autosomal recessive mutations have been made   plates. Kim and Maria decide to use these plates to
                  almost exclusively in mice, while many measurements   test their theories. They pipette a suspension of the
                  of the rate of generation of dominant mutations have   bacteriophage onto each of the three replica plates.
                  been made both in mice and in humans. What do you    What should they see if Kim is right? What should
                  think is the reason for this difference?             they see if Maria is right?
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