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


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) A) and E)
G) B) and E)

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C

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


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 E)
G) A) and B)

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B

Which genetic disorder is due to a deletion on chromosome 7?


A) Williams syndrome
B) cri du chat syndrome
C) Alagille syndrome
D) Down syndrome
E) cancer

F) B) and C)
G) A) and D)

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Which structure is used in the new treatment of rheumatoid arthritis?


A) adenovirus
B) SCID
C) bacteriophage
D) hypodermic needles
E) None of these structures are used in the treatment of rheumatoid arthritis.

F) C) and D)
G) B) and D)

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


A) methemoglobinemia
B) Duchenne muscular dystrophy
C) Marfan syndrome
D) sickle-cell disease
E) color blindness

F) A) and B)
G) A) and C)

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An extra three nucleotides inserted into a gene will cause a frameshift mutation.

A) True
B) False

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


A) point mutation
B) frameshift mutation
C) transposons
D) deletion
E) duplication

F) A) and C)
G) B) and E)

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Chromosome 7 may lose an end piece resulting in Williams syndrome. This is an example of a chromosomal


A) inversion.
B) duplication.
C) deletion.
D) translocation.
E) epigenetic inheritance.

F) All of the above
G) D) and E)

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Which of the following syndromes is caused by a translocation?


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

F) B) and C)
G) A) and E)

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A transposon may cause a mutation if it


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

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Which one of the following diseases or disorders has not been treated using gene therapy methods?


A) rheumatoid arthritis
B) familial hypercholesterolemia
C) cri du chat syndrome
D) cystic fibrosis
E) SCID

F) A) and E)
G) B) and D)

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Which of the following consequences can arise as the result of a chromosomal inversion?


A) The inverted sequence of alleles can lead to altered gene activity, but only if it disrupts the control of gene expression.
B) The additional nucleotides added to the allele can cause it to produce an additional protein.
C) The nucleotides that have been deleted from the allele will cause the new amino acid chain to be shortened.
D) The multiple copies of the adenine nucleotide that have been added will increase the number of amino acids added to the chain.
E) There are no consequences due to a chromosomal inversion.

F) B) and C)
G) D) and E)

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Inversions are chromosomal mutations that


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) B) and C)
G) A) and D)

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Alleles associated with known genetic disorders can be detected using DNA microarray analysis.

A) True
B) False

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Transposons have been discovered in which of the following groups?


A) bacteria
B) plants
C) humans
D) fruit flies
E) All of the above

F) C) and D)
G) A) and B)

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E

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.

A) True
B) False

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


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) B) and C)
G) C) and D)

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Gene therapy would not be an effective treatment for Down syndrome because


A) scientists do not know which faulty genes cause the syndrome.
B) Down syndrome results from having an extra chromosome with over a thousand genes.
C) liposomes and nasal sprays cannot be used due to abnormalities in the respiratory tract of Down syndrome individuals.
D) Down syndrome is not a genetic disorder.
E) the gene therapy treatment could not be performed on an adult individual.

F) A) and E)
G) A) and D)

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A chromosome normally has the following sequence of genes: f-g-h-i-j-k-l-m. Upon testing, an individual is found to have the following sequence: f-g-h-i-j-k-k-j-i-l-m. What kind(s) of chromosomal mutation(s) does this chromosome have? Check all that apply.


A) deletion
B) duplication
C) translocation
D) inversion
E) frameshift

F) B) and E)
G) B) and C)

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Which human disorder is being treated with gene therapy?


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

F) D) and E)
G) A) and D)

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