Concepts of Genetics (11th Edition)
Concepts of Genetics (11th Edition)
11th Edition
ISBN: 9780321948915
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Chapter 8, Problem 1PDQ

HOW DO WE KNOW? In this chapter, we have focused on chromosomal mutations resulting from a change in number or arrangement of chromosomes. In our discussions, we found many opportunities to consider the methods and reasoning by which much of this information was acquired. From the explanations given in the chapter, what answers would you propose to the following fundamental questions?

  1. (a) How do we know that the extra chromosome causing Down syndrome is usually maternal in origin?
  2. (b) How do we know that human aneuploidy for each of the 22 autosomes occurs at conception, even though most often human aneuploids do not survive embryonic or fetal development and thus are never observed at birth?
  3. (c) How do we know that specific mutant phenotypes are due to changes in chromosome number or structure?
  4. (d) How do we know that the mutant Bar-eye phenotype in Drosophila is due to a duplicated gene region rather than to a change in the nucleotide sequence of a gene?
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The wild-type (normal) fruit fly, Drosophila melanogaster, has straight wings and long bristles. Mutant strains have been isolated with either curled wings or short bristles. The genes representing these two mutant traits are located on separate chromosomes. Carefully examine the data from the five crosses below. (a) For each mutation, determine whether it is dominant or recessive. In each case, identify which crosses support your answer; and (b) define gene symbols and determine the genotypes of the parents for each cross.
Discuss the following types of mutations, with reference to specific genetic disorders: i) Chromosomal deletion; ii) Reciprocal translocation; and iii) Haploinsufficiency
If you wanted to make a mouse model for any of the following human genetic conditions (a–d), indicate which of thefollowing types of mice (i–vi) would be useful to your studies. If more than one answer applies, state which type ofmouse would most successfully mimic the human disease:(i) transgenic mouse overexpressing a normal mouse protein; (ii) transgenic mouse expressing normal amounts of amutant human protein; (iii) transgenic mouse expressing adominant negative form of a protein; (iv) a knockout mouse;(v) a conditional knockout mouse; and (vi) a knockin mousein which the normal allele is replaced with a mutant allelethat is at least partially functional. In all cases, the transgeneor the gene that is knocked out or knocked in is a form of thegene responsible for the disease in question.a. Marfan syndrome (a dominant disease caused byhaploinsufficiency for the FBN1 gene);b. A dominantly inherited autoinflammatory diseasecaused by a hypermorphic missense mutation in thegene PLCG2;c.…

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Concepts of Genetics (11th Edition)

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