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

A) True
B) False

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Down syndrome could not be treated by gene therapy because


A) scientists do not know which faulty genes cause the syndrome.
B) Down syndrome is caused by possessing extra copies of genes of an entire chromosome, and adding more genes would not help.
C) liposomes and nasal sprays cannot be used due to abnormalities in the respiratory tract of Down syndrome individuals.
D) there are too many genes involved in the syndrome.
E) the gene therapy treatment could not be performed on an adult individual.

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

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


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 it after treatment.
E) transplanting a normal liver into the individual.

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

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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 D)
G) C) and E)

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What kinds of mutations can be revealed through ultrasound?


A) Some chromosomal abnormalities, such as Down syndrome and Edwards syndrome, and a few other known inherited disorders.
B) The genetic profile, including any mutant gene alleles the fetus may have.
C) All chromosomal mutations, including deletions, duplications, inversions, and translocations.
D) Only larger chromosomal mutations, such as the large deletion seen in individuals with cri du chat syndrome.
E) Only inherited genetic disorders caused by single gene mutations.

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

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Mutations within genes always result in non-functional proteins.

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

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


A) deletion
B) duplication
C) transposon
D) translocation
E) None of these mutations have taken place.

F) None of the above
G) B) and D)

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


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

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


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

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In what way do transposons cause mutations to occur?


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 D)
G) B) and E)

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


A) viruses
B) PCR
C) bacteria
D) prions
E) hypodermic needles

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

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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) None of the above
G) D) and E)

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


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

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

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A DNA microarray detects


A) mutant gene alleles 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) B) and D)
G) B) and E)

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

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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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Figure: Figure:   -You are a genetic counselor,and a man with the translocation shown in the figure is your client.He and his partner (who has a normal karyotype) wish to have children.You explain to him that the probability of having a child with the same translocation as the father is A)  0%. B)  25%. C)  50%. D)  75%. E)  100%. -You are a genetic counselor,and a man with the translocation shown in the figure is your client.He and his partner (who has a normal karyotype) wish to have children.You explain to him that the probability of having a child with the same translocation as the father is


A) 0%.
B) 25%.
C) 50%.
D) 75%.
E) 100%.

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

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A man carrying a translocation may appear normal,but runs the risk of having children with a syndrome because his children


A) may inherit both abnormal chromosomes from the father and would thus carry a deletion.
B) may inherit one abnormal chromosome with one normal one from the father, and would carry a deletion or duplication.
C) will inherit one abnormal chromosome from both the mother and father.
D) may inherit both normal chromosomes from the father and an abnormal one from the mother.
E) carry the same translocation as the father.

F) All of the above
G) A) and B)

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


A) The reverse sequence of alleles can lead to altered gene activity 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 D)
G) All of the above

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