Question 1

Sickle-cell disease is an inherited disease caused by an alteration of a single amino acid in a protein. Specifically,

Accepted Answer

A)   the sixth amino acid, glutamic acid, is replaced by valine.
B)   the sixth amino acid, glutamic acid, is replaced by lysine.
C)   the charge of the protein is changed, which causes the protein to change shape.
D)   Both a and c
E)   Both b and cF) A) and E)
G) C) and D)

Question 2

For gene therapy to be most effective, genes should

Accepted Answer

A)   be delivered to the germ-line cells using a viral vector.
B)   be inserted into the host DNA chromosome at random sites.
C)   be expressed in the host cells in response to the appropriate environmental signals.
D)   be similar to the defective gene.
E)   have antibiotic resistance markers.F) B) and E)
G) C) and D)

Question 3

Restriction fragment banding patterns

Accepted Answer

A)   are useful in constructing pedigrees.
B)   show sex-linked inheritance.
C)   are detected by RNA probes.
D)   difficult to visualize on electrophoresis gels.
E)   the same in most individuals.F) A) and B)
G) C) and E)

Question 4

Gel electrophoresis

Accepted Answer

A)   causes DNA to be pulled through the gel toward the negative end of the field.
B)   causes larger DNA fragments to move more quickly through the gel than smaller DNA fragments.
C)   is used to identify and isolate DNA fragments.
D)   is required for PCR reactions.
E)   is used in allele-specific oligonucleotide hybridization.F) B) and C)
G) C) and D)

Question 5

The study of allele-specific cleavage differences detects genetic diseases by examining patterns of activity of _______ enzymes.

Accepted Answer

restriction

Question 6

The type of mutation that stops translation of a protein results in a shortened protein because translation does not proceed beyond the mutation. An example is thalassemia, which is

Accepted Answer

A)   a missense mutation.
B)   a nonsense mutation.
C)   a frame-shift mutation.
D)   an aberration.
E)   None of the aboveF) C) and D)
G) B) and E)

Question 7

A genetic disease that is caused by a deletion in the X chromosome is

Accepted Answer

A)   sickle-cell disease.
B)   hemophilia.
C)   Duchenne muscular dystrophy.
D)   PKU.
E)   Both a and bF) A) and C)
G) B) and C)

Question 8

Which of the following mutations is not a chromosomal mutation?

Accepted Answer

A)   Large deletions
B)   Inversions
C)   Point mutations
D)   Translocations
E)   DuplicationsF) B) and E)
G) D) and E)

Question 9

In one type of cancer, myelogenous leukemia, certain white blood cells undergo a gain-of-function mutation resulting in a totally new protein. The treatment involves

Accepted Answer

A)   supplying the correct protein intravenously.
B)   using molecular medicine to produce a drug to inactivate the protein.
C)   using gene therapy to insert a new gene to supply the correct protein.
D)   radiation and chemotherapy.
E)   administrating large doses of adenosine deaminase.F) B) and E)
G) B) and C)

Question 10

Most restriction sites are _______ base pairs long.

Accepted Answer

A)   1 or 2
B)   4 to 6
C)   about 10
D)   about 20
E)   over 50F) B) and E)
G) All of the above

Question 11

An RFLP

Accepted Answer

A)   is a restriction fragment length polymorphism.
B)   is inherited in a Mendelian fashion.
C)   can be used as a genetic marker.
D)   can be useful to help define a discrete gene.
E)   All of the aboveF) D) and E)
G) A) and E)

Question 12

Which of the following types of variations would be most detectable by gel electrophoresis if the differences in the DNA were between two recognition sites for a restriction enzyme?

Accepted Answer

A)   SNPs
B)   PCRs
C)   HMRs
D)   STRs
E)   HMOsF) None of the above
G) C) and E)

Question 13

Nitrites, a human-made preservative for meats, and aflatoxin, a natural product produced by the mold Aspergillus, are similar in that

Accepted Answer

A)   they are converted by the endoplasmic reticulum into a mutagenic substance.
B)   they readily lose an amine group to form a unique nitrogenous base.
C)   their unmethylated cytosine loses its amino group to form uracil.
D)   their thymine bases form covalent bonds with adjacent bases.
E)   ultraviolet light distorts their DNA double helix, which interferes with translation.F) C) and E)
G) B) and C)

Question 14

The addition of _______ groups to their DNA is one method used by bacteria to prevent their own DNA from being cut by restriction enzymes.

Accepted Answer

methyl

Question 15

Which of the following types of variation involves changes at a single nucleotide base?

Accepted Answer

A)   SNPs
B)   PCRs
C)   HMRs
D)   STRs
E)   HMOsF) A) and C)
G) A) and E)

Question 16

Individuals with PKU have an abnormal

Accepted Answer

A)   lipoprotein.
B)   prion.
C)   triplet repeat.
D)   oncogene.
E)   enzyme.F) B) and D)
G) All of the above

Question 17

You have characterized over 100 mutations in a partic-ular gene that are linked to a certain disease. The mutations you have identified are all due to a single base change in one codon of the gene encoding protein X. Which DNA technique would you use to analyze patients who might have this disease?

Accepted Answer

Since all of the mutations you...

Question 18

An example of a gain of function missense mutation is a mutation of the TP53 gene. Normally, this protein inhibits cell division, but certain mutations in the TP53 gene

Accepted Answer

A)   result in a gain of an oncogenic (cancer-causing)  function.
B)   do not result in a change in the amino acid sequence.
C)   cause the protein to stop translation and no protein is made at all.
D)   cause thymine to form covalent bonds with adjacent bases.
E)   result in nondisjunction.F) A) and C)
G) C) and E) A

Question 19

Genetic diagnosis by DNA testing

Accepted Answer

A)   detects only mutant and not normal alleles.
B)   can be done only on eggs or sperm.
C)   involves hybridization to rRNA.
D)   often utilizes restriction enzymes and a polymorphic site.
E)   cannot be done with PCR.F) B) and E)
G) A) and C)

Question 20

Which of the following statements regarding short tandem repeats (STRs)  is false?

Accepted Answer

A)   STRs are inherited.
B)   STRs are the result of a single nucleotide base mutation.
C)   The FBI uses 13 STR loci in its CODIS database to solve crimes.
D)   STRs were used to confirm the execution of Tsar Nicholas II and his family.
E)   DNA fingerprinting usually involves STR analysis.F) C) and D)
G) A) and E)

Exam 15: Gene Mutation and Molecular Medicine

Sickle-cell disease is an inherited disease caused by an alteration of a single amino acid in a protein. Specifically,

Correct AnswerverifiedShow Answer

For gene therapy to be most effective, genes should

Correct AnswerverifiedShow Answer

Restriction fragment banding patterns

Correct AnswerverifiedShow Answer

Gel electrophoresis

Correct AnswerverifiedShow Answer

The study of allele-specific cleavage differences detects genetic diseases by examining patterns of activity of _______ enzymes.

Correct Answerverifiedrestriction

The type of mutation that stops translation of a protein results in a shortened protein because translation does not proceed beyond the mutation. An example is thalassemia, which is

Correct AnswerverifiedShow Answer

A genetic disease that is caused by a deletion in the X chromosome is

Correct AnswerverifiedShow Answer

Which of the following mutations is not a chromosomal mutation?

Correct AnswerverifiedShow Answer

In one type of cancer, myelogenous leukemia, certain white blood cells undergo a gain-of-function mutation resulting in a totally new protein. The treatment involves

Correct AnswerverifiedShow Answer

Most restriction sites are _______ base pairs long.

Correct AnswerverifiedShow Answer

An RFLP

Correct AnswerverifiedShow Answer

Which of the following types of variations would be most detectable by gel electrophoresis if the differences in the DNA were between two recognition sites for a restriction enzyme?

Correct AnswerverifiedShow Answer

Nitrites, a human-made preservative for meats, and aflatoxin, a natural product produced by the mold Aspergillus, are similar in that

Correct AnswerverifiedShow Answer

The addition of _______ groups to their DNA is one method used by bacteria to prevent their own DNA from being cut by restriction enzymes.

Correct Answerverifiedmethyl

Which of the following types of variation involves changes at a single nucleotide base?

Correct AnswerverifiedShow Answer

Individuals with PKU have an abnormal

Correct AnswerverifiedShow Answer

You have characterized over 100 mutations in a partic-ular gene that are linked to a certain disease. The mutations you have identified are all due to a single base change in one codon of the gene encoding protein X. Which DNA technique would you use to analyze patients who might have this disease?

Correct AnswerverifiedSince all of the mutations you...View AnswerShow Answer

An example of a gain of function missense mutation is a mutation of the TP53 gene. Normally, this protein inhibits cell division, but certain mutations in the TP53 gene

Correct AnswerverifiedA

Genetic diagnosis by DNA testing

Correct AnswerverifiedShow Answer

Which of the following statements regarding short tandem repeats (STRs) is false?

Correct AnswerverifiedShow Answer

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restriction

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methyl

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Since all of the mutations you...
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