Deck 22: Medical Genetics and Cancer

Question 1

What is the difference between genetic testing and genetic screening?

A) Genetic testing is concerned more with individuals and genetic screening is concerned with populations.
B) Genetic screening is concerned more with individuals and genetic testing is concerned with populations.
C) They use different tests and techniques to detect genetic mutations.
D) Genetic testing is concerned more with nonlethal syndromes and diseases, and genetic screening is concerned with lethal diseases and syndromes.

Answer 1

A

Question 2

Haplotypes can be useful in the identification of disease genes since

A) the least concordant marker(s) is typically the one that is closest to the disease gene.
B) the most concordant marker(s) is typically the one that is closest to the disease gene.
C) the most concordant marker(s) is the disease gene.
D) no pedigree information needs to be known.

Answer 2

B

Question 3

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

Answer 3

A

Question 4

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 5

A gene that promotes the development of cancer when it sustains a gain-of-function mutation is called a

A) housekeeping gene.
B) tumor suppressor gene.
C) proto-oncogene.
D) caretaker gene.

Question 6

In a disease that is associated with a single recessive allele,the concordance among dizygotic twins should be

A) 0%.
B) 25%.
C) 50%.
D) 75%.
E) 100%.

Question 7

The term that refers to the linkage of alleles or molecular markers along a single chromosome is

A) loss of variation.
B) association group.
C) recombination group.
D) haplotype.

Question 8

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 which of the following patterns of inheritance?

A) X-linked recessive
B) autosomal recessive
C) autosomal dominant
D) None of these choices are correct.

Question 9

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 10

Which of the following is typically associated with an autosomal recessive pattern of inheritance?

A) an affected offspring has one or more affected parents
B) an affected individual with one affected parent will have 50% of its offspring affected
C) two affected heterozygous individuals will have 25% of their offspring unaffected
D) an affected offspring has two unaffected parents

Question 11

What are the general ways that tumor supressors and oncogenes act?

A) Tumor suppressors inhibit the cell cycle and oncogenes stimulate the cell cycle.
B) Oncogenes inhibit the cell cycle and tumor suppressors stimulate the cell cycle.
C) Both tumor suppressors and oncogenes stimulate the cell cycle.
D) Both tumor suppressors and oncogenes inhibit the cell cycle.

Question 12

An oncogene form of Ras would have which of the following characteristics?

A) decreased GTPase activity
B) an increased number of copies in the cell
C) decreased exchange of GTP for GTP
D) increased GTPase activity

Question 13

A disease that is lethal only in the homozygous condition is most likely which of the following?

A) autosomal recessive
B) autosomal dominant
C) X-linked
D) None of these choices are correct.

Question 14

After genetic testing,a person is identified with an inherited mutation associated with a specific class of cancer.Which of the following is incorrect?

A) The person will definitely develop the cancer in their lifetime.
B) The person is predisposed to the development of the cancer.
C) The mutation is probably in a tumor-suppressing gene.
D) The person may pass the trait on to their offspring.

Question 15

Caspases are active during which of the following?

A) the normal cell cycle
B) apotosis
C) viral integration
D) DNA replication

Question 16

Locus heterogeneity can cause difficulties in pedigree analysis since 

A) the inheritance of only one gene is being analyzed.
B) the inheritance of more than one gene is being analyzed.
C) the cause of the disease may not have a genetic origin.
D) the cause of the disease may have environmental as well as genetic origins. 

Question 17

The term for the use of information about a person's genotype and other clinical data in order to select a medication is referred to as

A) best medical practices. 
B) molecular profiling.
C) personalized medicine.
D) minimalized drug therapy.

Question 18

Which technique can be used at the earliest stage in a pregnancy to provide a sample for fetal genetic testing?

A) amniocentesis
B) chorionic villus sampling
C) Both chorionic villus sampling and amniocentesis are performed at the same stage in a pregnancy.

Question 19

Which of the following would indicate that a disease has a genetic,rather than environmental,cause?

A) The disease has a specific age of onset.
B) The disease is cured by taking an antibiotic.
C) The disease occurs at the same rate in individuals that are exposed to a similar environment.
D) The disease occurs as frequently between close relatives as it does in unrelated individuals.

Question 20

In a disease that has a single gene,the concordance among monozygotic twins should be

A) 0%.
B) 25%.
C) 50%.
D) 75%.
E) 100%.

Question 21

What kind of mutation would be expected both within oncogenes and tumor suppressor genes that would result in gain-of-function or loss-of-function,respectively?

A) Missense
B) Amplifications
C) Silent
D) Neutral

Question 22

An example of personalized medicine would be

A) treatment of an infection based on the drug resistance of the bacterium.
B) treatment of diabetics with synthetic instead of natural insulin.
C) determining the CYP2C9 alleles present to help set the patient's coumarin dose.
D) performing an appendectomy on a patient with appendicitis.

Question 23

What are the potential advantages for personalized medicine? (Select all that apply.)

A) More effective dosing
B) Knowing which drugs will be the most effective
C) Treatment of patients based on their specific physiology
D) Being able to classify cancers on the way the cells look under a microscope as opposed to their genetic makeup

Question 24

What can cause epigenetic changes? (Select all that apply.)

A) DNA methylation
B) Histone acetylation
C) Histone methylation
D) Histone phosphorylation

Question 25

Epigenetics may play a role in cancer by

A) causing a change in gene expression patterns.
B) directly inducing inversion mutations.
C) directly resulting in gene deletions.
D) causing translocations.