Question 1

A parent carries a deletion on one of the two homologouschromosomes. 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 C)
G) B) and D)

Question 2

Which type of chromosomal mutation will lead to Alagille syndrome?

Accepted Answer

A)   translocation
B)   duplication
C)   inversion
D)   frameshift
E)   point mutationF) B) and D)
G) B) and E)

Question 3

Chorionic villus sampling carries less risk of causing miscarriage than amniocentesis.

Accepted Answer

A) True 
 B)False

Question 4

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) B) and D)
G) D) and E)

Question 5

Genetic counseling can help determine the risk of inheriting sickle cell disease in a family.

Accepted Answer

A) True 
 B)False

Question 6

Mutations are relatively uncommon because

Accepted Answer

A)   DNA repair enzymes often fix errors.
B)   physical mutagens such as X-rays seldom damage DNA.
C)   DNA is able to repair itself over time.
D)   frameshift mutations occur very frequently.
E)   transposons are constantly moving throughout the genome.F) A) and E)
G) A) and C)

Question 7

Chromosomes for karyotyping are often obtained from a blood sample. Red blood cells, however, cannot be used for this purpose because

Accepted Answer

A)   they are too small.
B)   they lack nuclei.
C)   white blood cells are much more common.
D)   they have abnormal chromosomes.
E)   they are difficult to isolate.F) A) and B)
G) None of the above

Question 8

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 is analyzed.
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.
D)   A single cell is removed from a 6- to 8-celled embryo, and its DNA analyzed.
E)   Blood is drawn from the embryo for genetic marker analysis.F) C) and D)
G) A) and D)

Question 9

A karyotype shows chromosomes arranged by

Accepted Answer

A)   banding pattern, 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

Mutations within genes always result in nonfunctional proteins.

Accepted Answer

A) True 
 B)False

Question 11

In what way do transposons cause mutations to occur?

Accepted Answer

A)   Transposons move within and between chromosomes, disrupting the genes.
B)   Transposons cause large sections of the gene to be deleted from the chromosome, making it useless.
C)   Transposons cause sections of the chromosome to make multiple copies of the same nucleotide.
D)   Transposons produce proteins that conflict with the normal functioning proteins of the cell.
E)   Transposons cause nonfunctional genes to be "woken up" and become functional.F) C) and E)
G) None of the above

Question 12

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) C) and E)
G) D) and E)

Question 13

A translocation chromosomal mutation is the exchange of segments between two homologous chromosomes.

Accepted Answer

A) True 
 B)False

Question 14

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

Accepted Answer

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

Question 15

A missing piece of chromosome 5 may result in a child whose glottis and larynx do not develop properly, resulting in an abnormal cry. This is called

Accepted Answer

A)   cri du chat syndrome.
B)   Huntington syndrome.
C)   Klinefelter syndrome.
D)   inv dup 15 syndrome.
E)   Down syndrome.F) B) and C)
G) C) and D)

Question 16

Which of the following is considered a mutagen? Check all that apply.

Accepted Answer

A)   X-rays
B)   UV light
C)   Transposons
D)   alleles
E)   pesticidesF) A) and D)
G) A) and C)

Question 17

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 E)
G) A) and B)

Question 18

During DNA replication, the original strand (ATTCGCGATTTA)  was replicated as (ATTCGGATTTA) . What type of mutation is present?

Accepted Answer

A)   deletion
B)   duplication
C)   transposon
D)   translocation
E)   None of these mutations have taken place.F) All of the above
G) C) and D)

Question 19

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 E)
G) A) and C)

Question 20

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

Accepted Answer

A) True 
 B)False

Exam 13: Mutations and Genetic Testing

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

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A DNA microarray detects

Correct AnswerverifiedShow Answer

Which type of chromosomal mutation will lead to Alagille syndrome?

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

Genetic counseling can help determine the risk of inheriting sickle cell disease in a family.

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

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

Correct AnswerverifiedShow Answer

A karyotype shows chromosomes arranged by

Correct AnswerverifiedShow Answer

Mutations are relatively uncommon because

Correct AnswerverifiedShow Answer

Which of the following is considered a mutagen? Check all that apply.

Correct AnswerverifiedShow Answer

A translocation chromosomal mutation is the exchange of segments between two homologous chromosomes.

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

Chorionic villus sampling carries less risk of causing miscarriage than amniocentesis.

Correct AnswerverifiedShow Answer

A genetic profile includes

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

In what way do transposons cause mutations to occur?

Correct AnswerverifiedShow Answer

A missing piece of chromosome 5 may result in a child whose glottis and larynx do not develop properly, resulting in an abnormal cry. This is called

Correct AnswerverifiedShow Answer

During DNA replication, the original strand (ATTCGCGATTTA) was replicated as (ATTCGGATTTA) . What type of mutation is present?

Correct AnswerverifiedShow Answer

Chromosomes for karyotyping are often obtained from a blood sample. Red blood cells, however, cannot be used for this purpose because

Correct AnswerverifiedShow Answer

Mutations within genes always result in nonfunctional proteins.

Correct AnswerverifiedShow Answer

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