Concepts of Genetics (12th Edition)
12th Edition
ISBN: 9780134604718
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino, Darrell Killian
Publisher: PEARSON
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Chapter 22, Problem 6PDQ
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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Chapter 22 Solutions
Concepts of Genetics (12th Edition)
Ch. 22 - In order to vaccinate people against diseases by...Ch. 22 - Prob. 2NSTCh. 22 - Prob. 1CSCh. 22 - Prob. 2CSCh. 22 - Prob. 3CSCh. 22 - HOW DO WE KNOW? In this chapter, we focused on a...Ch. 22 - Prob. 2PDQCh. 22 - Why are most recombinant human proteins produced...Ch. 22 - One of the major causes of sickness, death, and...Ch. 22 - Sequencing the human genome, the development of...
Ch. 22 - Prob. 6PDQCh. 22 - As genetic testing becomes widespread, medical...Ch. 22 - Prob. 8PDQCh. 22 - Prob. 9PDQCh. 22 - Does genetic analysis by ASO testing allow for...Ch. 22 - Maternal blood tests for three pregnant women...Ch. 22 - What is the main purpose of genome-wide...Ch. 22 - Describe how the team from the J. Craig Venter...Ch. 22 - Prob. 14PDQCh. 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 - Craig Venter and others have constructed synthetic...
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- A 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. 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. 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. Is colon cancer treatable? What are the common treatments, and how effective are they?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. Have Kieran explain genetic mutation to the couple. What are the possibilities of their having a child born with Tay Sachs disease?arrow_forwardDefine the noninvasive prenatal genetic diagnosis (NIPGD) technique ?arrow_forward
- The nurse is providing education to clients prior to undergoing genetic screening The nurse discusses that which hereditary conditions are associated with increased risk for infectionarrow_forwardWith this gene provided: MuPKS c.1949 C>T (p.R644W) Please provide the following; 1. Name of the gene 2. Location of the nucleotide change 3. Nucleotides that are changed 4. Type of mutation 5. Amino acid change 6. Location of the amino acid changearrow_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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