Human Heredity: Principles and Issues (MindTap Course List)
Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 7, Problem 12QP

Mutations Can Uncouple chromosomal Sex from Phenotypic Sex

Discuss whether the following individuals (1) have male or female gonads, (2) are phenotypically male or female (discuss Wolffian/Müllerian ducts and external genitalia), and (3) are sterile or fertile.

  1. a. XY, homozygous for a recessive mutation in the testosterone biosynthetic pathway, producing no testosterone
  2. b. XX, heterozygous for a dominant mutation in the testosterone biosynthetic pathway, which causes continuous production of testosterone
  3. c. XY, heterozygous for a recessive mutation in the MIH gene
  4. d. XY, homozygous fora recessive mutation in the SRY gene that abolishes function
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A. Deletion of the SOX9 gene leads to sex reversal resulting in a person with karyotype 46XY being phenotypically    Explain the genetic basis for this.    B. Describe what would happen to the phenotype of a male with a mutation in the gene encoding SF1? Explain your answer.
Question 15: Consider the consequence if one of the mutations you tested for complementation was a dominant mutation. You should see that complementation tests could not be used to provide information about dominant mutations. a) If a mutation were dominant how would your interpretation of the phenotype of the diploid be altered? No change would occur v b) How would you test whether any of these trp mutations were dominant? There is no way to test fc V
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