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 7, Problem 2NST
Campomelic dysplasia (CMD1) is a congenital human syndrome featuring malformation of bone and cartilage. It is caused by an autosomal dominant mutation of a gene located on chromosome 17. Consider the following observations in sequence, and in each case, draw whatever appropriate conclusions are warranted.
- (a) Of those with the syndrome who are karyotypically 46, XY, approximately 75 percent are sex reversed, exhibiting a wide range of female characteristics.
- (b) The nonmutant form of the gene, called SOX9, is expressed in the developing gonad of the XY male, but not the XX female.
- (c) The SOX9 gene shares 71 percent amino acid coding sequence homology with the Y-linked SRY gene.
- (d) CMD1 patients who exhibit a 46, XX karyotype develop as females, with no gonadal abnormalities.
HINT: This problem asks you to apply the information presented in this chapter to a real-life example. The key to its solution is knowing that some genes are activated and produce their normal product as a result of expression of products of other genes found on different chromosomes.
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Campomelic dysplasia (CMD1) is a congenital humansyndrome featuring malformation of bone and cartilage.It is caused by an autosomal dominant mutation of agene located on chromosome 17. Consider the followingobservations in sequence, and in each case, draw whateverappropriate conclusions are warranted.(a) Of those with the syndrome who are karyotypically46,XY, approximately 75 percent are sex reversed,exhibiting a wide range of female characteristics.(b) The nonmutant form of the gene, called SOX9, isexpressed in the developing gonad of the XY male,but not the XX female.(c) The SOX9 gene shares 71 percent amino acid codingsequence homology with the Y-linked SRY gene.(d) CMD1 patients who exhibit a 46,XX karyotypedevelop as females, with no gonadal abnormalities.
The following pedigree illustrates the inheritance of Nance–Horan syndrome, a rare genetic condition in which affected people have cataracts and abnormally shaped teeth.
Which of the following disorders in humans has an X-linked recessive inheritance pattern?
a.Hutchinson-Gilford progeria
b.Tay-Sachs disease
c.Marfan syndrome
d.Red-green color blindness
Which of the following is described as a structural rearrangement of a chromosome in which a broken piece has become reattached in the wrong location?
a.Duplication
b.Translocation
c.Inversion
d.Deletion
Which of the following disorders arises from translocation events?
a.Huntington’s disease
b.Infertility
c.Burkitt lymphoma
d.Duchenne muscular dystrophy
Chapter 7 Solutions
Concepts of Genetics (11th Edition)
Ch. 7 - Prob. 1NSTCh. 7 - Campomelic dysplasia (CMD1) is a congenital human...Ch. 7 - Carbon Copy (CC), the first car produced from a...Ch. 7 - Prob. 1CSCh. 7 - Prob. 2CSCh. 7 - Prob. 3CSCh. 7 - Prob. 4CSCh. 7 - HOW DO WE KNOW? In this chapter, we have focused...Ch. 7 - Review the Chapter Concepts list on p. 151. These...Ch. 7 - Prob. 3PDQ
Ch. 7 - Prob. 4PDQCh. 7 - Distinguish between the concepts of sexual...Ch. 7 - Contrast the XX/XY and XX/X0 modes of sex...Ch. 7 - Describe the major difference between sex...Ch. 7 - How do mammals, including humans, solve the dosage...Ch. 7 - The phenotype of an early-stage human embryo is...Ch. 7 - What specific observations (evidence) support the...Ch. 7 - Describe how nondisjunction in human female...Ch. 7 - An insect species is discovered in which the...Ch. 7 - When cows have twin calves of unlike sex...Ch. 7 - An attached-X female fly, XXY (see the Insights...Ch. 7 - Assume that on rare occasions the attached X...Ch. 7 - It has been suggested that any male-determining...Ch. 7 - What is a Barr body, and where is it found in a...Ch. 7 - Indicate the expected number of Barr bodies in...Ch. 7 - Define the Lyon hypothesis.Ch. 7 - Can the Lyon hypothesis be tested in a human...Ch. 7 - Predict the potential effect of the Lyon...Ch. 7 - Cat breeders are aware that kittens expressing the...Ch. 7 - Prob. 23PDQCh. 7 - Prob. 24PDQCh. 7 - Prob. 25PDQCh. 7 - Prob. 26PDQCh. 7 - In mice, the Sry gene (see Section 7.2) is located...Ch. 7 - The genes encoding the red-and...Ch. 7 - What is the role of the enzyme aromatase in sexual...Ch. 7 - In the wasp Bracon hebetor, a form of...Ch. 7 - Prob. 31ESPCh. 7 - In mice, the X-linked dominant mutation Testicular...Ch. 7 - When the cloned cat Carbon Copy (CC) was born (see...Ch. 7 - Prob. 34ESPCh. 7 - In chickens, a key gene involved in sex...Ch. 7 - Prob. 36ESP
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