Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Textbook Question
Chapter 12, Problem 1CS
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). Mike’s 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?
Expert Solution & Answer
Summary Introduction
To discuss: The cause of incomplete penetrance in case of colon cancer.
Introduction: Cancer can be defined as a group of diseases, which involve abnormal growth of cells, and these cells have the ability to spread and invade other regions of the body. Colon cancer is defined as the uncontrolled growth of cells of the large intestine specifically colon which is the end region of the large intestine. Most colon cancers are benign but in some cases, it can be malignant as well. The cancer property is shown by adenomatous polyps that are cancerous tumors present in the large intestine.
In the given case, Mr. M has a family history of nonpolyposis colon cancer. About 75% of the population inheriting the mutant allele expresses it and the gene mutation responsible for the colon cancer is present on the MSH2 gene.
Explanation of Solution
Penetrance is the term used for describing the percentage of the population that expresses symptoms of the inherited allele. In the given case study, the penetrance is an example of incomplete penetrance. This is because, 75% of the population expresses the inherited allele for colon cancer. In complete inheritance, 100% of the population expresses the inherited allele. The mutation in the MSH2 requires certain trigger factors to turn normal cells into cancerous cells. Some people do not experience this type of cancer even after the presence of the mutated gene because of the choice of a healthy lifestyle. A healthy lifestyle includes low consumption of preservatives or any other mutagens; as a result, the rate of mutation becomes low.
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Please answer with reason:
1) The nurse is explaining the inheritance of Huntington disease (autosomal dominant) to a newly diagnosed patient whose partner does not have the gene mutation. Which statement should the nurse make regarding family planning?
a. There is a 100% chance with each pregnancy that the child will inherit the gene for Huntington disease.
b. There is a 50% chance with each pregnancy that the child will inherit the gene for Huntington disease
c. There is a 25% chance with each pregnancy that the child will inherit the gene for Huntington disease
d. There is a 0% chance with each pregnancy that the child will inherit the gene for Huntington disease.
At her first prenatal visit, a woman relates that her maternal aunt has cystic fibrosis, an autosomal recessive illness. Which of the following statements is appropriate for the nurse to make?
a. It is unnecessary for you to worry since our aunt is not a direct relation."
b. "We can check to see whether or not you are a carrier for cystic fibrosis."
c. "You should have an amniocentesis to see whether or not your child has the disease."
d. Please ask your mother whether she has ever had any symptoms of cystic fibrosis
2) Indicate the pattern of inheritance for the human genetic disorders. Use letter symbols for your answers (AR, AD, XR,XD, M) where appropriate.
Table 2.
HUMAN GENETIC DISORDER
PATTERN OF INHERITANCE
Marfan Syndrome
Sickle Cell Anemia
Classical Hemophilia
Hypophosphatemia
Cystic Fibrosis
Phenylketonuria
Huntington’s Disease
Tay Sachs Disease
Neurofibromatosis
Alkaptonuria
Xeroderma pigmentosum
Kearns-Sayre Syndrome
Achondroplasia
Beta thalassemia
Duchene Muscular Dystrophy
Chapter 12 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 12.10 - If improved diagnostic tests are developed from...Ch. 12.10 - If you had cancer, would you donate tissue samples...Ch. 12.10 - Prob. 1GRCh. 12.10 - Another model, the random model, proposes that any...Ch. 12 - Mike was referred for genetic counseling because...Ch. 12 - Mike was referred for genetic counseling because...Ch. 12 - Mike was referred for genetic counseling because...Ch. 12 - Theodor Boveri predicted that malignancies would...Ch. 12 - Distinguish between a familial and a sporadic...Ch. 12 - Benign tumors: a. are noncancerous growths that do...
Ch. 12 - Prob. 4QPCh. 12 - Prob. 5QPCh. 12 - Prob. 6QPCh. 12 - Prob. 7QPCh. 12 - Prob. 8QPCh. 12 - What is the difference between a proto-oncogene...Ch. 12 - Distinguish between dominant inheritance and...Ch. 12 - Describe the likelihood of developing bilateral...Ch. 12 - Prob. 12QPCh. 12 - The search for the BRCA1 breast cancer gene...Ch. 12 - What are the roles of cellular proto-oncogenes,...Ch. 12 - Which of the following mutations will result in...Ch. 12 - Prob. 16QPCh. 12 - The following family has a history of inherited...Ch. 12 - You are in charge of a new gene therapy clinic....Ch. 12 - Prob. 19QPCh. 12 - Can you postulate a reason or reasons why children...Ch. 12 - Prob. 21QPCh. 12 - In Section 12-1, Julie is concerned that she may...Ch. 12 - Prob. 23QPCh. 12 - What are some factors that epidemiologists have...Ch. 12 - Smoking cigarettes has been shown to be associated...Ch. 12 - Prob. 26QPCh. 12 - Studies have shown that there are significant...
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