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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define the term name as Missense mutations
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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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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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- 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…arrow_forwardMatch the following terms with their correct definitions. A change in a gene that causes it to produce no protein. A loss-of-funtion in one allele that is uominant because the wild type allele alone does not produce enough protein to serve its typical role. 1. Loss-of-function mutation 2. Null mutation 3. Gain-of-function mutation A change in a gene that causes it to produce less protein or protein that is not able to serve its typical role. 4. Haploinsufficiency A change in a gene that causes it to produce increased protein or protein that takes on a new role.arrow_forwardGive a schematic diagram of how we can Treatment Down's syndrome by using gene therapy? Please answer at your own words,please..arrow_forward
- Write and discuss about the analysis procedure used for carrier screening for the single-gene diseases that is routinely conducted in different countries. (Subject: Genetic engineering).arrow_forwardA couple has had a child born with neurofibromatosis. They come to your genetic counseling office for help. After taking an extensive family history, you determine that there is no history of this disease on either side of the family. The couple wants to have another child and wants to be advised about the risks of that child having neurofibromatosis. What advice do you give them?arrow_forwardMike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Seventy-five percent of people who carry the mutant allele will get colon cancer by age 65. This is an example of incomplete penetrance. What could cause this?arrow_forward
- Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Once a family member is tested for the mutant allele, is it hard for other family members to remain unaware of their own fate, even if they did not want this information? How could family dynamics help or hurt this situation?arrow_forwardMike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Is colon cancer treatable? What are the common treatments, and how effective are they?arrow_forwardDefine the noninvasive prenatal genetic diagnosis (NIPGD) technique ?arrow_forward
- Give at least four different reasons for seeking genetic counseling.arrow_forward. 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_forward
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