Concept explainers
To determine: The probability of the child being affected by FAP if both the parents are normal but the father’s sister has experienced the FAP.
Introduction: Familial adenomatous polyposis (FAP) is a form of colorectal cancer. This cancer is a result of a mutation in a specific gene called APC gene adenomatous polyposis coli. The symptom of this type of cancer is mainly visible in the early adolescence or later stages of life. This type of cancer is autosomal dominant and requires a single allele for producing cancerous cells.
To determine: The tests that can be helpful in the assessment.
Introduction: Familial adenomatous polyposis (FAP) is a condition that results due to the mutation in the APC gene present on the 5q chromosome and is an inheritance type of cancer. The polyps grown are initially noncancerous, but if the colonial polyps are left for a long time, these polyps may become malignant.
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Concepts of Genetics (12th Edition)
- 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_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
- A couple has one child with bilateral retinoblastoma. The mother is free from cancer, but the father has unilateral retinoblastoma and he has a brother who has bilateral retinoblastoma. a. If the couple has another child, what is the probability that this next child will have retinoblastoma? b. If the next child has retinoblastoma, is it likely to be bilateral or unilateral? c. Explain why the father’s case of retinoblastoma is unilateral, whereas his son’s and brother’s cases are bilateral.arrow_forwardAs a genetic counselor, you inform Susan and John that a blood test for cystic fibrosis is available. Would you recommend genetic testing for Susan and John? Explain.arrow_forwardAt 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_forward
- Give at least four different reasons for seeking genetic counseling.arrow_forwardMany genetic counselors will not provide presymptomatic genetic testing for Huntington disease to people below the age of 18. Why are there concerns about offering this and many other genetic tests to minors? What types of presymptomatic genetic testing might be appropriate for minors?arrow_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
- Create a hypothetical person and situation as a real life example to illustrate your position. Who is this person? How old is this person? What chromosomal abnormalities does this person have? How does genetic testing and counseling make this person’s life better or worse? Ultimately, should your hypothetical person seek genetic counseling?arrow_forwardTuberous Sclerosis (TS) is an autosomal dominant genetic disease characterized by seizures, mental retardation, autism, and benign tumors of the brain, heart, skin, and kidneys. The kidney tumors can also be malignant. This disease exhibits a wide range of severity, and only about 1/3 of the cases are inherited. Two different genes have been tightly linked to the disease in families where it is inherited. The remaining 2/3 appear to be due to mutations in one of the 2 genes as well. Overall it appears that 1/2 are caused by mutations in TSC1 and the other half by mutations in TSC2. A rat model for hereditary renal carcinoma (kidney cancer) has been found. Southern and Northern blot analysis of the TSC1 and TSC2 gene revealed no differences between these rats and normal rats. Not all the rats in the strain would get cancer but a significant proportion did and those were selected for and used in experiments. 1. a) What was detected by the Southern blots? (look this up, make your…arrow_forwardYou are discussing the genetic pedigree of a client with a history of autosomal dominant disease in his family. You explain that while a recessive mutation requires both copies of the gene to be mutated in order to cause clinical disease, an autosomal dominant mutation can cause disease when only one copy of the gene is affected. Describe the different mechanisms by which dominance occurs, giving examples of each.arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning