Human Genetics, 10th Edition, (Lewis)

Chapter 20: Genetic Testing and Treatment

Practice Tests

1
Why can single-gene disorders be difficult for physicians to diagnose?
A)They do not have a specific cause.
B)They can produce a variety of symptoms that appear to be unrelated.
C)They are usually fatal.
D)They usually do not cause a noticeable phenotype.
2
True or False. Currently, genetic counselors are required to be nondirective in their approach with patients.
A)True
B)False
3
What type of genetic screening tests would focus on the breast and ovarian cancer genes BRCA1 and BRCA2?
A)prenatal
B)carrier screening
C)predisposition
D)newborn
4
A man and woman, each with a family history of sickle cell disease and no children would benefit most by _____.
A)prenatal screening
B)carrier screening
C)predisposition testing
D)having no screening because they already know their status
5
Which of the following tests provide population-wide testing for inborn errors of metabolism?
A)prenatal
B)carrier screening
C)predisposition
D)newborn
6
True or False. Genetic testing is only effective on newborns.
A)True
B)False
7
A genetic counselor's job may include _______________.
A)referring a family to support groups
B)recommending testing of relatives
C)reviewing a family's health history
D)all of the above
8
True or False. Genetic counselors communicate with patients but not with physicians or other health care professionals.
A)True
B)False
9
A lack of T cells, as seen in ADA deficiency, can _____.
A)cause an overproduction of certain antibodies
B)lead to severe combined immune deficiency (SCID)
C)inhibit blood clotting
D)cause acquired immune deficiency syndrome (AIDS)
10
Germline gene therapy is _____.
A)heritable
B)not heritable
C)sometimes heritable
D)unrelated to heritability
11
The first gene therapy used cells altered outside the recipient's body and is called ____ gene therapy.
A)chaperone
B)in vivo
C)ex vivo
D)vaccine
12
Researchers have developed "preconception comprehensive carrier screening," which is a single test that detects 448 recessive diseases affecting children. Diseases included must meet which of the following criteria?
A)the phenotype must be severe
B)several mutations must be known
C)penetrance must be high
D)all of these
13
Genetic tests may be administered at which of the following?
A)8-celled embryos
B)fetuses
C)newborns and older children
D)all of these
14
Germline gene therapy could potentially correct a genetic defect in a(n) _____.
A)affected individual only
B)affected individual and his or her offspring only
C)affected individual and all of his or her descendants
D)parent of an affected child
15
Preimplantation genetic diagnosis, samples a cell from ____.
A)an early embryo
B)fetuses
C)newborns
D)sperm
16
Gene therapy is unlike conventional drug therapy in that it attempts to alter an individual's ____ in a part of the body that has malfunctioned.
A)genotype only
B)phenotype only
C)Either a or b depending on the application
17
Treatments for Gaucher disease include which of these?
A)enzyme replacement therapy
B)substrate reduction therapy
C)pharmacological chaperone therapy
D)all of these
18
One of the first applications of pharmacogenetics was in _____.
A)agalactosylceramide lipidosis
B)Krabbe disease
C)phenylketonuria
D)breast cancer
19
A _______________ test detects variants of multiple genes or gene expression patterns that affect drug metabolism.
A)pharmacogenetic
B)pharmacogenomic
C)nutrigenetic
20
Which of the following are useful in nonsense suppression?
A)the blood thinner Warfarin
B)medication called a COX-2 inhibitor
C)coumadin
D)a class of antibiotics called aminoglycosides
21
_______________ testing, offered through direct-to-consumer websites, was recently investigated by the U.S. Government Accountability Office.
A)Pharmacogenetic
B)Pharmacogenomic
C)Nutrigenetic
22
____ deficiency was the first disorder researchers treated with gene therapy.
A)ADA
B)OTC
C)HH
D)DMD
23
Jesse Gelsinger died during a gene therapy experiment aimed at treating his ____ deficiency.
A)ADA
B)OTC
C)Canavan
D)DMD
24
The disease that disrupts interactions between neurons and oligodendrocytes is called _____.
A)ADA
B)OTC
C)Canavan disease
D)DMD
25
Which vector used in gene therapy has proved useful in the treatment of sickle cell disease?
A)adeno-associated virus
B)adenovirus
C)retrovirus
26
Genetic counselors provide information on _____.
A)inheritance patterns
B)disease risks and symptoms
C)available tests and treatments
D)All of the above
27
True or False. Somatic gene therapy affects tissue that is passed on to offspring.
A)True
B)False
28
Requirements for approval of clinical trials for gene therapy include _____.
A)knowledge of defect and how it causes symptoms
B)an animal model
C)success in human cells growing in vitro
D)no alternate therapies, or patients for whom existing therapies are not possible or have not worked
E)safe experiments
F)All of the above
29
A ____ confirms a diagnosis based on symptoms.
A)carrier screen
B)prenatal test
C)prenatal screen
D)diagnostic test
30
Tandem mass spectrometry is used in which of the following?
A)newborn screening tests for inborn errors of metabolism
B)chorionic villus sampling
C)amniocentesis
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