Question 1

In hemoglobin, the shift from glutamic acid to valine is considered what type of mutation?

Accepted Answer

A)   point mutation
B)   frameshift mutation
C)   transposons
D)   deletion
E)   duplicationF) A) and D)
G) C) and E)

Question 2

A person with familial hypercholesterolemia is participating in an ex vivo gene therapy trial. The procedure involves

Accepted Answer

A)   infecting a portion of the person's liver with a retrovirus containing a normal gene for a cholesterol receptor.
B)   spraying the normal gene for the cholesterol receptor into the nose.
C)   insertion of the cholesterol receptor gene into a virus, then injecting the virus into the person.
D)   removing a piece of the person's liver, infecting it with a retrovirus containing the normal cholesterol receptor gene, and replacing the liver cells following treatment.
E)   transplanting a normal liver into the individual.F) B) and D)
G) B) and E)

Question 3

Which type of chromosomal mutation will lead to Alagille syndrome?

Accepted Answer

A)   translocation
B)   duplication
C)   inversion
D)   frameshift
E)   point mutationF) None of the above
G) All of the above

Question 4

A known abnormality in a gene's sequence that can be linked to a genetic disease is called an)

Accepted Answer

A)   genetic profile.
B)   enzyme.
C)   genetic marker.
D)   DNA microarray.
E)   genomic DNA.F) A) and B)
G) B) and C)

Question 5

An embryo produced by in vitro fertilization IVF)  may be tested for genetic disorders prior to implantation. How is this accomplished?

Accepted Answer

A)   Fetal cells are recovered from the mother's blood, and the DNA analyzed with a DNA microarray.
B)   Amniocentesis or chorionic villus sampling is performed, and a karyotype assembled.
C)   A polar body is isolated and its DNA amplified by PCR for analysis by DNA microarray.
D)   A single cell is removed from a 6- to 8-celled embryo, and its DNA analyzed with a DNA microarray.
E)   Blood is drawn from the embryo for genetic marker analysis.F) C) and D)
G) A) and D)

Question 6

Amniocentesis may be preferred over chorionic villus sampling CVS)  for karyotyping because

Accepted Answer

A)   CVS takes much longer to obtain a karyotype.
B)   CVS is a more invasive procedure.
C)   amniocentesis has a lower risk of miscarriage than CVS.
D)   amniocentesis can be performed more quickly than CVS.
E)   a larger amount of tissue may be obtained through amniocentesis.F) None of the above
G) C) and E)

Question 7

To perform an in vivo gene therapy treatment, cells are removed from the patient's body, normal genes are added to them, and then the cells are returned to the patient's body.

Accepted Answer

A) True 
 B)False

Question 8

A DNA microarray detects

Accepted Answer

A)   uncommon forms of alleles, or mutants, associated with disease.
B)   an individual's complete genotype, including all the various mutations.
C)   chromosomal abnormalities, such as duplications or deletions.
D)   fetal cells in the mother's blood.
E)   viral DNA in an individual's cells.F) A) and B)
G) B) and D)

Question 9

A karyotype shows chromosomes arranged by

Accepted Answer

A)   banding patterns, size, and shape.
B)   shape, size, and complexity.
C)   complexity, radius, and length.
D)   length, structure, and color.
E)   color, width, and length.F) A) and D)
G) A) and B)

Question 10

What structure is often used to deliver copies of genes into cells?

Accepted Answer

A)   viruses
B)   PCR
C)   bacteria
D)   prions
E)   hypodermic needlesF) C) and D)
G) All of the above

Question 11

Ex vivo gene therapy differs from in vivo gene therapy in that

Accepted Answer

A)   ex vivo gene therapy involves directly introducing the gene into the body.
B)   in vivo gene therapy involves directly introducing the gene into the body.
C)   in vivo gene therapy only employs viruses for gene transfer.
D)   ex vivo gene therapy only employs viruses for gene transfer.
E)   ex vivo gene therapy can employ viruses, nasal sprays, or liposomes for gene transfer, but only liposomes may be used for in vivo gene therapy.F) A) and C)
G) B) and E)

Question 12

Which human disorder is not being treated with gene therapy?

Accepted Answer

A)   severe combined immunodeficiency SCI
D)  
B)   familial hypercholesterolemia
C)   cancer
D)   cystic fibrosis
E)   All of these are being treated with gene therapy.F) A) and B)
G) D) and E)

Question 13

A parent carries a deletion on one of the two homologous chromosomes carrying the gene. What is the probability of this individual's child carrying the same deletion?

Accepted Answer

A)   0%
B)   25%
C)   50%
D)   75%
E)   100%F) A) and B)
G) A) and C)

Question 14

A child with bluish-purple skin is found to lack the enzyme diaphorase and is subsequently diagnosed with which genetic disorder?

Accepted Answer

A)   methemoglobinemia
B)   Duchenne muscular dystrophy
C)   Marfan syndrome
D)   sickle-cell disease
E)   color blindnessF) A) and B)
G) None of the above

Question 15

Testing for a protein may help reveal whether or not an individual has a genetic disorder.

Accepted Answer

A) True 
 B)False

Question 16

Inversions are chromosomal mutations that

Accepted Answer

A)   always result in a syndrome.
B)   neither increase nor decrease the amount of genetic material in the cell.
C)   rarely cause deletions or duplications during gamete formation when crossing-over occurs.
D)   result from duplication of a portion of a chromosome.
E)   never disrupt gene regulation or cause physical abnormalities.F) All of the above
G) A) and B)

Question 17

Which of the following syndromes is caused by a translocation?

Accepted Answer

A)   Alagille syndrome
B)   inv dup 15 syndrome
C)   Williams syndrome
D)   cri du chat syndrome
E)   Turner syndromeF) A) and D)
G) B) and E)

Question 18

A silent mutation is more likely to occur as a result of

Accepted Answer

A)   a frameshift mutation.
B)   a point mutation that does not change the amino acid encoded within the gene.
C)   the movement of a transposon into an exon.
D)   a point mutation that alters the amino acid encoded within the gene.
E)   a large dose of radiation.F) A) and D)
G) None of the above

Question 19

A transposon may cause a mutation if it

Accepted Answer

A)   jumps into an exon of another gene.
B)   jumps into an intron of another gene.
C)   jumps into an intergenic DNA sequence.
D)   remains trapped within an intergenic DNA sequence.
E)   interacts with a physical mutagen.F) B) and D)
G) A) and B)

Question 20

A genetic profile includes

Accepted Answer

A)   the location of all known genes in the human genome.
B)   the entire base sequence of an individual's genome.
C)   all of an individual's normal genes.
D)   an individual's complete genotype, including mutations.
E)   all of an individual's genetic markers.F) A) and B)
G) A) and E)

Exam 13: Genetic Counseling

In hemoglobin, the shift from glutamic acid to valine is considered what type of mutation?

Correct AnswerverifiedShow Answer

Testing for a protein may help reveal whether or not an individual has a genetic disorder.

Correct AnswerverifiedShow Answer

Amniocentesis may be preferred over chorionic villus sampling CVS) for karyotyping because

Correct AnswerverifiedShow Answer

Ex vivo gene therapy differs from in vivo gene therapy in that

Correct AnswerverifiedShow Answer

A karyotype shows chromosomes arranged by

Correct AnswerverifiedShow Answer

A person with familial hypercholesterolemia is participating in an ex vivo gene therapy trial. The procedure involves

Correct AnswerverifiedShow Answer

A child with bluish-purple skin is found to lack the enzyme diaphorase and is subsequently diagnosed with which genetic disorder?

Correct AnswerverifiedShow Answer

To perform an in vivo gene therapy treatment, cells are removed from the patient's body, normal genes are added to them, and then the cells are returned to the patient's body.

Correct AnswerverifiedShow Answer

A DNA microarray detects

Correct AnswerverifiedShow Answer

A parent carries a deletion on one of the two homologous chromosomes carrying the gene. What is the probability of this individual's child carrying the same deletion?

Correct AnswerverifiedShow Answer

A transposon may cause a mutation if it

Correct AnswerverifiedShow Answer

A silent mutation is more likely to occur as a result of

Correct AnswerverifiedShow Answer

Which type of chromosomal mutation will lead to Alagille syndrome?

Correct AnswerverifiedShow Answer

What structure is often used to deliver copies of genes into cells?

Correct AnswerverifiedShow Answer

A genetic profile includes

Correct AnswerverifiedShow Answer

Which of the following syndromes is caused by a translocation?

Correct AnswerverifiedShow Answer

An embryo produced by in vitro fertilization IVF) may be tested for genetic disorders prior to implantation. How is this accomplished?

Correct AnswerverifiedShow Answer

Inversions are chromosomal mutations that

Correct AnswerverifiedShow Answer

Which human disorder is not being treated with gene therapy?

Correct AnswerverifiedShow Answer

A known abnormality in a gene's sequence that can be linked to a genetic disease is called an)

Correct AnswerverifiedShow Answer

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