Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 12, Problem 3CS
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.
Is colon cancer treatable? What are the common treatments, and how effective are they?
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Pancreatic cancer is clearly inherited as an autosomal dominant trait in the family illustrated in Figure 23.1. Yet most cases of pancreatic cancer are sporadic, appearing as isolated cases in families with no obvious inheritance. How can a trait be strongly inherited in one family and not inherited in another?
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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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- 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_forwardThe M97 allele of the BRCA1 gene is a rare autosomal dominant allele that is only 20% penetrant in females. Rebecca's mom has breast cancer caused by this allele. Her father’s family has no history of cancer. What is the probability that Rebecca will get this cancer? Please show work.arrow_forwardPlease 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.arrow_forward
- 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 fibrosisarrow_forward2) 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 Dystrophyarrow_forwardURGENTarrow_forward
- Sheree is referred to a genetic counselor because a cystic fibrosis (CF) test done as a routine part of her prenatal care indicated that she is a carrier of the most common mutant allele. Sheree is stunned, because no one in her family has the disease. She is 26 years old. The genetic counselor would most likely explain autosomal recessive inheritance and suggest that Sheree's husband be tested for the CF allele. explain autosomal dominant inheritance and suggest that Sheree's husband be tested for the CF allele. explain autosomal recessive inheritance and suggest that Sheree's parents be tested for the CF allele. advise Sheree to have amniocentesis to check the fetus for the CF genotype.arrow_forwardPlease answer asap and in short and content should not be palgarised pleasearrow_forwardFitz 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? 1/1577 1/1184 1/296 Need answer in short and ASAP .arrow_forward
- As a genetic counselor, you are asked to assess the risk for a couple with a family history of familial adenomatous polyposis (FAP) who are thinking about having children. Neither the husband nor the wife has colorectal cancer, but the husband has a sister with FAP. What is the probability that this couple will have a child with FAP? Are there any tests that you could recommend to help in this assessment?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 was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?arrow_forward
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