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 22, Problem 10PDQ
Summary Introduction
To determine: The suggestion given by the genetic counselor to the couple having mutated gene for cystic fibrosis.
Introduction: Cystic fibrosis is caused by impairment in the glands that synthesizes mucus, sweat, and digestive enzymes. In this condition, the thin mucous clogs which transport digestive enzyme to the small intestine thereby decreasing the digestive efficiency. It is an autosomal recessive disease. The disease condition would appear only when an individual has a homozygous recessive (aa) gene for this disorder
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Fitz was found to be a carrier for the deltaF508 mutation in cystic fibrosis (autosomal recessive). His wife, Oliva, screens negative for cystic fibrosis mutations. The carrier frequency in Olivia’s ethnic group is 1/60, and you know that this carrier screening only identifies 80% of mutations in her ethnic group. The couple has one child without cystic fibrosis, what is the risk for their next child to have cystic fibrosis?
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The Meeting
Sarah stared blankly at the blue paisley wallpaper. Her husband Mike sat by her side, bending and unbending a small paper clip.
“Sarah and Michael, it’s good to meet you,” welcomed the genetic counselor, as she entered the room. “I apologize for being late, but I was just meeting with another couple. Let’s see, you’d like to have a child, but you’re concerned because of your family history of cystic fibrosis.”
“Yes,” Sarah replied softly. “Mike and I met at a CF support group meeting a few years ago. He had a younger brother who died of cystic fibrosis, and I had a younger sister. We saw the painful lives they had—difficulty breathing, the constant respiratory infections. Although the treatments for CF are better now, we just don’t know if we can…” she trailed off.
“I can certainly understand your concern,” the genetic counselor responded sympathetically. “That’s where I hope to help, by providing as much information and advice as I can. I’m glad that you came to see me…
Chapter 22 Solutions
Concepts of Genetics (11th Edition)
Ch. 22 - In order to vaccinate people against diseases by...Ch. 22 - Prob. 2NSTCh. 22 - Prob. 3NSTCh. 22 - Prob. 1CSCh. 22 - Prob. 2CSCh. 22 - Prob. 3CSCh. 22 -
HOW DO WE KNOW?
In this chapter, we focused on a...Ch. 22 -
Review the Chapter Concepts list on page 569....Ch. 22 - Prob. 3PDQCh. 22 - Why are most recombinant human proteins produced...
Ch. 22 - Prob. 5PDQCh. 22 - One of the major causes of sickness, death, and...Ch. 22 - Describe how the team from the J. Craig Venter...Ch. 22 - Prob. 8PDQCh. 22 - Prob. 9PDQCh. 22 - Prob. 10PDQCh. 22 - As genetic testing becomes widespread, medical...Ch. 22 - Prob. 12PDQCh. 22 - Prob. 13PDQCh. 22 - What is the main purpose of genome-wide...Ch. 22 - Prob. 15PDQCh. 22 - Dominant mutations can be categorized according to...Ch. 22 - In 2013 the actress Angelina Jolie elected to have...Ch. 22 - Prob. 18PDQCh. 22 - Should the FDA regulate direct-to-consumer genetic...Ch. 22 - Prob. 20ESPCh. 22 - Following the tragic shooting of 20 children at a...Ch. 22 - Private companies are offering personal DNA...Ch. 22 - Prob. 23ESPCh. 22 - Prob. 24ESPCh. 22 - Prob. 25ESPCh. 22 - Prob. 26ESP
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- . Discuss how Genome-wide association studies (GWAS) can be used to identify genetic risk loci for (a) diseases with complex inheritance and (b) pharmacogenomic genotype-phenotype associations. Draw on specific examples and experimental evidence in your discussion.arrow_forwardAs a genetic counselor, you inform Susan and John that a blood test for cystic fibrosis is available. would you recommend generic testing for Susan and John?arrow_forwardA couple comes into the family counseling center and wants information on genetic counseling. They are thinking of starting a family but the wife has a family history of Tay Sachs disease. Kieran is a genetic counselor who will explain the services available at the center. Kieran’s discussion will include genetic mutation, tests that may be done during pregnancy, and advances being made in genetic therapy. What information can Kieran give the couple regarding the services of the genetic counseling center?arrow_forward
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