Question 1

Which of the following would provide the longest lasting treatment for Leber\'s congenital amaurosis II?

Accepted Answer

injecting adeno-associated virus carrying a wild type version of the RPE65 gene into affected cells of the retina

Question 2

Germline gene therapy would correct a genetic defect in

Accepted Answer

an affected individual and all of his or her descendants.

Question 3

The field of genetic counseling began when the term was coined

Accepted Answer

in 1947, to help physicians explain inherited diseases to their patients.

Question 4

Reginald receives a stem cell transplant to treat a blood cancer, multiple myeloma. His treatment is an example of

Accepted Answer

somatic gene therapy.

Question 5

Rita has been diagnosed with Her2 breast cancer, and is prescribed Herceptin. The approach of basing a drug prescribing decision on the results of a single-gene test is called

Accepted Answer

pharmacogenetics

Question 6

Unlike cholesterol checks and chest x-rays, the results of genetic tests may have repercussions to family members who share genotypes that can affect health.

Accepted Answer

true

Question 7

Which of the following might a genetic counselor do as part of her job?

Accepted Answer

explain the inheritance of a specific disorder in a family, evaluate risks for relatives, and advise on genetic testing

Question 8

One of the most important types of information that a patient can bring to an initial appointment with a genetic counselor is

Accepted Answer

the family health history, extending to second degree relatives.

Question 9

A serious limitation of using a retrovirus as a vector for gene therapy is that

Accepted Answer

the retrovirus may insert into a proto-oncogene, causing cancer.

Question 10

A genetic counselor might discuss assisted reproductive technologies with a couple who wish to

Accepted Answer

avoid one parent\'s passing on a disease-causing allele to a child.

Question 11

A nasal spray for cystic fibrosis patients, which contains adenovirus particles carrying a normal human CFTR gene, is an example of

Accepted Answer

in vivo gene therapy.

Question 12

Newborn screening using tandem mass spectrometry identifies certain single-gene disorders by detecting

Accepted Answer

an unusual metabolite or metabolic imbalance.

Question 13

Maxwell needs to take an anti-depressant drug. He enrolls in a clinical trial to detect genetic variants and gene expression profiles associated with response to various drugs. This approach to selecting a therapeutic drug is called

Accepted Answer

pharmacogenomics

Question 14

The defect in Canavan disease that causes the symptoms is

Accepted Answer

the stripping of the lipid layer from brain neurons.

Question 15

Diagnosis of hereditary hemochromatosis cannot be based on the results of a genetic test alone because

Accepted Answer

the disease is non penetrant.

Question 16

Many children born with ornithine transcarbamylase deficiency (OTC) die within seventy-two hours of birth. Jesse Gelsinger was not diagnosed with OTC until he was two because _______ and therefore his symptoms were milder.

Accepted Answer

he was a mosaic

Question 17

Enzyme replacement therapy treats

Accepted Answer

the phenotype.

Question 18

Which of the following is a vector used to deliver genes in human gene therapy?

Accepted Answer

adeno-associated virus

Question 19

Nonheritable gene therapy is performed on _______ cells.

Accepted Answer

somatic

Question 20

Introducing a gene in a liposome to carry DNA across the plasma membrane is a(n) _______ gene therapy.

Accepted Answer

in vivo

Question 21

Performing gene therapy on somatic cells removed from the body and then returned to the body is called _______ gene therapy.

Accepted Answer

ex vivo

Question 22

Tyrone has Gaucher disease. He receives recombinant glucocerebrosidase every other week in an infusion to prevent the symptoms. This treatment is an example of

Accepted Answer

enzyme replacement therapy.

Question 23

Adenosine deaminase (ADA) deficiency results in

Accepted Answer

severe combined immune deficiency.

Question 24

\"Preconception comprehensive carrier screening\" is a battery of tests that detect disorders that arise later in life.

Accepted Answer

false

Question 25

Nondirective genetic counseling

Accepted Answer

offers options but not opinions.

Question 26

Newborn screening reveals that newborn Jessica has inherited PKU. Her parents are distraught at the diagnosis, but a nutritionist explains that Jessica can be treated, right away. The treatment for PKU is

Accepted Answer

dietary.

Question 27

\"Patients-in-waiting\" are false positives whose newborn screening reveals disease markers, but never develop the predicted symptoms.

Accepted Answer

true

Question 28

Macy has BRCA1 breast cancer. Her sister Philene is healthy, but wants to know if she has inherited the BRCA1 mutation that could make her develop cancer. She is a candidate for a

Accepted Answer

predisposition test.

Question 29

One of the first applications of pharmacogenetics in prescribing drugs is for

Accepted Answer

Warfarin, a blood thinner.

Question 30

Which is an example of a germline gene therapy?

Accepted Answer

a transgenic plant or animal

Question 31

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

Accepted Answer

explain autosomal recessive inheritance and suggest that Sheree\'s husband be tested for CF.

Question 32

Genetic counseling to help patients with Huntington disease in their families decide if they wish to be tested generally

Accepted Answer

takes several months.

Question 33

The Genetic Testing Registry of the U.S. National Institutes of Health acts as a clearinghouse to provide information on genetic tests.

Accepted Answer

true

Question 34

A test offered on the Web by a direct-to-consumer genetic testing company genotypes a gene for ability to taste bitter substances. This test is not regulated by the Clinical Laboratory Improvement Amendments (CLIA) because

Accepted Answer

the test provides information, not a diagnosis.

Question 35

Aminoglycosides may be useful in treating genetic disease by nonsense suppression.

Accepted Answer

true

Question 36

A patient received bone marrow modified by an adeno-associated virus (AAV) carrying the human gene that encodes an enzyme her body could not make. This is an example of

Accepted Answer

somatic gene therapy.

Question 37

Leber congenital amaurosis type 2 has been successfully treated using gene therapy.

Accepted Answer

true

Question 38

Using gene therapy to correct ornithine transcarbamylase deficiency (OTC) would prevent buildup of _________ in the blood.

Accepted Answer

ammonia

Question 39

Pharmacological chaperone therapy

Accepted Answer

restores proper folding to a misfolded protein.

Question 40

The species naturally affected by Leber\'s congenital amaurosis II that led to development of gene therapy is

Accepted Answer

a breed of dog.

Question 41

Which of the following would provide the longest lasting treatment for adenosine deaminase (ADA) deficiency?

Accepted Answer

receiving white blood cells genetically modified to carry functional ADA genes

Human Genetics: Chapter 20 – Flashcards

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