Deck 25: Medical Genetics and Cancer

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Question
Select the statements that are associated with an autosomal dominant pattern of inheritance. Check all that apply.

A) An affected offspring has one or more affected parents.
B) An affected offspring has two unaffected parents.
C) An affected individual with one affected parent will have 50% of its offspring affected.
D) Two affected heterozygous individuals will have 25% of their offspring unaffected.
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Question
Select the events that can convert a proto-oncogene into an oncogene. Check all that apply.

A) Viral integration near the proto-oncogene
B) Missense mutations
C) Translocation
D) Aneuploidy
E) Gene amplification
Question
The majority of human cancers are caused by ________.

A) viral infections
B) inherited mutations
C) spontaneous mutations
D) carcinogens
Question
The first acutely transforming virus to be isolated was ________.

A) RSV in chickens
B) Hepatitis B in humans
C) SSV in monkeys
D) ALV in mice
E) SV40 in humans
Question
When are caspases active?

A) The normal cell cycle
B) Apotosis
C) Viral integration
D) DNA replication
Question
In the analysis of a family, you notice that males are more likely to contract a certain disease and the daughters of affected males produce 50% of their sons affected with the disease. This disease is displaying what pattern of inheritance?

A) X-linked recessive
B) Autosomal recessive
C) Autosomal dominant
D) X-linked dominant
Question
In a disease that is caused by a single gene, the concordance among monozygotic twins should be ________.

A) 0%
B) 25%
C) 50%
D) 75%
E) 100%
Question
You are analyzing a human pedigree for a new disease and discover that the disease occurs with the same frequency in both sexes and that 25% of the children from two unaffected heterozygous parents have the disease. This disease is displaying ________ inheritance.

A) autosomal recessive
B) autosomal dominant
C) sex-linked recessive
D) sex-linked dominant
Question
Prions can contain either DNA or RNA as their genetic material.
Question
When GTP is bound to Ras, it is in the ________ form.

A) active
B) inactive
Question
An oncogene form of Ras would have ________.

A) decreased GTPase activity
B) an inability to bind GTP
C) increased susceptibility to growth factors
D) inability to bind Raf-1
Question
Which test provides the earliest indication of genetic problems in a fetus?

A) Amniocentesis
B) Chorionic villus sampling
C) Both provide reliable indications at the same stage of development
Question
What prion conformation may result in a prion-related infection?

A) PrPSc
B) PrPC
C) Both can cause disease
Question
Select the factors that would indicate that a disease had a genetic, rather than an environmental, cause. Check all that apply.

A) The disease spreads from person to person.
B) The disease has a specific age of onset.
C) There is a high level of the disease's concordance among monozygotic twins.
D) The disease does not spread to people sharing similar environmental situations.
Question
What diseases are caused by prions? Check all that apply.

A) Phenylketonuria
B) Creutzfeldt-Jacob disease
C) Gerstmann-Straussler-Scheinker disease
D) Familial fatal insomnia
Question
Chronic myelogenous leukemia is an example of a proto-oncogene activation by ________.

A) Action of a virus
B) Missense mutation
C) A translocation
D) Gene amplification
E) None of the answers are correct
Question
The term that indicates that cancer has begun to migrate to other parts of the body is ________.

A) malignant
B) benign
C) metastatic
D) invasive
E) clonal
Question
In a disease that is associated with a single recessive allele, the concordance among dizygotic twins should be ________, assuming both parents are heterozygous carriers.

A) 0%
B) 25%
C) 50%
D) 75%
E) 100%
Question
A gene that promotes the development of cancer is called a(n) ________.

A) clone
B) tumor suppressor gene
C) mutagen
D) carcinogen
E) oncogene
Question
What is p53?

A) A caspase
B) A proto-oncogene
C) A transcription factor
D) A tumor-suppressor gene
E) None of the answers are correct
Question
The process of ________ removes amniotic fluid from a pregnant mother to examine fetal cells for genetic problems.

A) amniocentesis
B) chorionic villus sampling
C) preimplantation genetic diagnosis
D) in vitro fertilization
Question
A pedigree analysis is the study of family trees to establish patterns of inheritance.
Question
Dizygotic twins share ________ of their genetic information.

A) 25%
B) 50%
C) 75%
D) 100%
Question
How can a tumor suppressor gene lose its function? Check all that apply.

A) Gene mutation
B) Duplication
C) Aberrant DNA methylation
D) Aneuploidy leading to loss of the tumor suppressor gene
Question
In the United States, most newborns undergo a test for primary congenital hypothyroidism, a condition where people are unable to produce enough thyroid hormone. On a nationwide basis, this is an example of

A) genetic testing.
B) genetic screening.
C) amniocentesis.
D) preimplantation genetic diagnosis.
Question
DNA damage is sensed by E2F at the G1 and G2 checkpoints.
Question
A disease that can be caused by mutations in different genes is said to have homogeneity.
Question
After genetic testing, a person is identified with an inherited mutation associated with a specific class of cancer. Select the statements that are true about this person. Check all that apply.

A) The person will definitely develop cancer in his or her lifetime.
B) The person is predisposed to the development of cancer.
C) The mutation is probably in a tumor suppressor gene.
D) The person may pass the trait on to his or her offspring.
Question
Checkpoint proteins are encoded by ________.

A) oncogenes
B) growth factors
C) proto-oncogenes
D) tumor-suppressor genes
Question
An oncogene may promote cancer by keeping the cell growth pathway in the off position.
Question
A ________ is a cellular gene that has the potential to become an oncogene.

A) carcinogen
B) proto-oncogene
C) tumor-suppressor genes
D) caspase gene
Question
Select the events that must occur for inherited retinoblastoma to develop. Check all that apply.

A) An individual must have two mutated copies of the Rb gene.
B) The p53 gene must be mutated.
C) E2F is no longer regulated by Rb.
D) The cell proceeds uncontrolled through cell division.
Question
You are working in a lab where you are studying a disease that is known to be caused by a single nucleotide change, although the effect this change ultimately has on the protein's structure/function is unknown. You have DNA samples from multiple patients that you suspect of having this disease. What is the most efficient way to test the samples for the relevant mutation?

A) Western blotting
B) DNA sequencing
C) Karyotyping
D) Amniocentesis
Question
The general approach in which researchers and clinicians use methods that enable them to understand the molecular changes that occur in diseases such as cancer is called ________.

A) molecular profiling
B) personalized medicine
C) DNA microarrays
D) cluster analysis
Question
Herceptin is a drug that is given to treat certain breast cancers. However, it is most effective on tumors that are overexpressing HER2. Therefore, patients are tested for HER2 overexpression before being given Herceptin. This is an example of

A) concordance.
B) a haplotype.
C) personalized medicine.
D) karyotyping.
Question
The age at which a disease appears in an organism is called the ________.

A) null age
B) critical age
C) age of incubation
D) age of onset
Question
Cancer is considered clonal because daughter cells from a cancer cell have the same genetic makeup as the parent cell.
Question
Programmed cell death is called genome maintenance.
Question
Indicate the roles of growth factors in the cell cycle. Check all that apply.

A) They act as repair proteins that fix DNA damage in the cell.
B) Growth factors bind to a receptor and initiate a signal cascade in the cell.
C) Their binding changes gene transcription.
D) They allow the cell to progress through the cell cycle.
Question
An environmental agent that causes cancer is called a ________.

A) carcinogen
B) malignant agent
C) invasive agent
D) metastatic agent
Question
Haplotypes between homologs in the same individual ________; haplotypes for the same chromosome in different individuals ________.

A) are always the same; are always different
B) can be the same or different; can be the same or different
C) are always the same; can be the same or different
D) can be the same or different; are always different
Question
When a scientist is attempting to use haplotype analysis to link a disease-causing allele to a molecular marker, it is important for the marker to be close to the disease-causing allele, otherwise ________ may occur.

A) additional mutation
B) crossing over
C) linkage disequilibrium
D) founder effect
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Deck 25: Medical Genetics and Cancer
1
Select the statements that are associated with an autosomal dominant pattern of inheritance. Check all that apply.

A) An affected offspring has one or more affected parents.
B) An affected offspring has two unaffected parents.
C) An affected individual with one affected parent will have 50% of its offspring affected.
D) Two affected heterozygous individuals will have 25% of their offspring unaffected.
A, C, D
2
Select the events that can convert a proto-oncogene into an oncogene. Check all that apply.

A) Viral integration near the proto-oncogene
B) Missense mutations
C) Translocation
D) Aneuploidy
E) Gene amplification
A, B, C, E
3
The majority of human cancers are caused by ________.

A) viral infections
B) inherited mutations
C) spontaneous mutations
D) carcinogens
D
4
The first acutely transforming virus to be isolated was ________.

A) RSV in chickens
B) Hepatitis B in humans
C) SSV in monkeys
D) ALV in mice
E) SV40 in humans
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
5
When are caspases active?

A) The normal cell cycle
B) Apotosis
C) Viral integration
D) DNA replication
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
6
In the analysis of a family, you notice that males are more likely to contract a certain disease and the daughters of affected males produce 50% of their sons affected with the disease. This disease is displaying what pattern of inheritance?

A) X-linked recessive
B) Autosomal recessive
C) Autosomal dominant
D) X-linked dominant
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
7
In a disease that is caused by a single gene, the concordance among monozygotic twins should be ________.

A) 0%
B) 25%
C) 50%
D) 75%
E) 100%
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
8
You are analyzing a human pedigree for a new disease and discover that the disease occurs with the same frequency in both sexes and that 25% of the children from two unaffected heterozygous parents have the disease. This disease is displaying ________ inheritance.

A) autosomal recessive
B) autosomal dominant
C) sex-linked recessive
D) sex-linked dominant
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
9
Prions can contain either DNA or RNA as their genetic material.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
10
When GTP is bound to Ras, it is in the ________ form.

A) active
B) inactive
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
11
An oncogene form of Ras would have ________.

A) decreased GTPase activity
B) an inability to bind GTP
C) increased susceptibility to growth factors
D) inability to bind Raf-1
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
12
Which test provides the earliest indication of genetic problems in a fetus?

A) Amniocentesis
B) Chorionic villus sampling
C) Both provide reliable indications at the same stage of development
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
13
What prion conformation may result in a prion-related infection?

A) PrPSc
B) PrPC
C) Both can cause disease
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
14
Select the factors that would indicate that a disease had a genetic, rather than an environmental, cause. Check all that apply.

A) The disease spreads from person to person.
B) The disease has a specific age of onset.
C) There is a high level of the disease's concordance among monozygotic twins.
D) The disease does not spread to people sharing similar environmental situations.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
15
What diseases are caused by prions? Check all that apply.

A) Phenylketonuria
B) Creutzfeldt-Jacob disease
C) Gerstmann-Straussler-Scheinker disease
D) Familial fatal insomnia
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
16
Chronic myelogenous leukemia is an example of a proto-oncogene activation by ________.

A) Action of a virus
B) Missense mutation
C) A translocation
D) Gene amplification
E) None of the answers are correct
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
17
The term that indicates that cancer has begun to migrate to other parts of the body is ________.

A) malignant
B) benign
C) metastatic
D) invasive
E) clonal
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
18
In a disease that is associated with a single recessive allele, the concordance among dizygotic twins should be ________, assuming both parents are heterozygous carriers.

A) 0%
B) 25%
C) 50%
D) 75%
E) 100%
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
19
A gene that promotes the development of cancer is called a(n) ________.

A) clone
B) tumor suppressor gene
C) mutagen
D) carcinogen
E) oncogene
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
20
What is p53?

A) A caspase
B) A proto-oncogene
C) A transcription factor
D) A tumor-suppressor gene
E) None of the answers are correct
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
21
The process of ________ removes amniotic fluid from a pregnant mother to examine fetal cells for genetic problems.

A) amniocentesis
B) chorionic villus sampling
C) preimplantation genetic diagnosis
D) in vitro fertilization
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
22
A pedigree analysis is the study of family trees to establish patterns of inheritance.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
23
Dizygotic twins share ________ of their genetic information.

A) 25%
B) 50%
C) 75%
D) 100%
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
24
How can a tumor suppressor gene lose its function? Check all that apply.

A) Gene mutation
B) Duplication
C) Aberrant DNA methylation
D) Aneuploidy leading to loss of the tumor suppressor gene
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
25
In the United States, most newborns undergo a test for primary congenital hypothyroidism, a condition where people are unable to produce enough thyroid hormone. On a nationwide basis, this is an example of

A) genetic testing.
B) genetic screening.
C) amniocentesis.
D) preimplantation genetic diagnosis.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
26
DNA damage is sensed by E2F at the G1 and G2 checkpoints.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
27
A disease that can be caused by mutations in different genes is said to have homogeneity.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
28
After genetic testing, a person is identified with an inherited mutation associated with a specific class of cancer. Select the statements that are true about this person. Check all that apply.

A) The person will definitely develop cancer in his or her lifetime.
B) The person is predisposed to the development of cancer.
C) The mutation is probably in a tumor suppressor gene.
D) The person may pass the trait on to his or her offspring.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
29
Checkpoint proteins are encoded by ________.

A) oncogenes
B) growth factors
C) proto-oncogenes
D) tumor-suppressor genes
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
30
An oncogene may promote cancer by keeping the cell growth pathway in the off position.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
31
A ________ is a cellular gene that has the potential to become an oncogene.

A) carcinogen
B) proto-oncogene
C) tumor-suppressor genes
D) caspase gene
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
32
Select the events that must occur for inherited retinoblastoma to develop. Check all that apply.

A) An individual must have two mutated copies of the Rb gene.
B) The p53 gene must be mutated.
C) E2F is no longer regulated by Rb.
D) The cell proceeds uncontrolled through cell division.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
33
You are working in a lab where you are studying a disease that is known to be caused by a single nucleotide change, although the effect this change ultimately has on the protein's structure/function is unknown. You have DNA samples from multiple patients that you suspect of having this disease. What is the most efficient way to test the samples for the relevant mutation?

A) Western blotting
B) DNA sequencing
C) Karyotyping
D) Amniocentesis
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
34
The general approach in which researchers and clinicians use methods that enable them to understand the molecular changes that occur in diseases such as cancer is called ________.

A) molecular profiling
B) personalized medicine
C) DNA microarrays
D) cluster analysis
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
35
Herceptin is a drug that is given to treat certain breast cancers. However, it is most effective on tumors that are overexpressing HER2. Therefore, patients are tested for HER2 overexpression before being given Herceptin. This is an example of

A) concordance.
B) a haplotype.
C) personalized medicine.
D) karyotyping.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
36
The age at which a disease appears in an organism is called the ________.

A) null age
B) critical age
C) age of incubation
D) age of onset
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
37
Cancer is considered clonal because daughter cells from a cancer cell have the same genetic makeup as the parent cell.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
38
Programmed cell death is called genome maintenance.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
39
Indicate the roles of growth factors in the cell cycle. Check all that apply.

A) They act as repair proteins that fix DNA damage in the cell.
B) Growth factors bind to a receptor and initiate a signal cascade in the cell.
C) Their binding changes gene transcription.
D) They allow the cell to progress through the cell cycle.
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
40
An environmental agent that causes cancer is called a ________.

A) carcinogen
B) malignant agent
C) invasive agent
D) metastatic agent
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
41
Haplotypes between homologs in the same individual ________; haplotypes for the same chromosome in different individuals ________.

A) are always the same; are always different
B) can be the same or different; can be the same or different
C) are always the same; can be the same or different
D) can be the same or different; are always different
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
42
When a scientist is attempting to use haplotype analysis to link a disease-causing allele to a molecular marker, it is important for the marker to be close to the disease-causing allele, otherwise ________ may occur.

A) additional mutation
B) crossing over
C) linkage disequilibrium
D) founder effect
Unlock Deck
Unlock for access to all 42 flashcards in this deck.
Unlock Deck
k this deck
locked card icon
Unlock Deck
Unlock for access to all 42 flashcards in this deck.