Question 1

Which treatment involves changing the genotype?

Accepted Answer

A)  Restricting the substrate 
B)  Metabolic inhibition 
C)  Supplying a missing protein 
D)  Gene therapy 
E)  Genetic screening 
A)  Restricting the substrate 
B)  Metabolic inhibition 
C)  Supplying a missing protein 
D)  Gene therapy 
E)  Genetic screening

Question 2

What type of mutation creates a stop codon?

Accepted Answer

A)  A nonsense mutation 
B)  A missense mutation 
C)  A frame-shift mutation 
D)  A reversion 
E)  A stop mutation 
A)  A nonsense mutation 
B)  A missense mutation 
C)  A frame-shift mutation 
D)  A reversion 
E)  A stop mutation

Question 3

The primary consequence of untreated phenylketonuria is

Accepted Answer

A)  muscle atrophy. 
B)  kidney failure. 
C)  mental retardation. 
D)  skeletal defects. 
E)  circulatory diseases. 
A)  muscle atrophy. 
B)  kidney failure. 
C)  mental retardation. 
D)  skeletal defects. 
E)  circulatory diseases.

Question 4

Which sequence is a palindromic recognition sequence?

Accepted Answer

A)  5′ . . . CAATAG . . . 3′ 
B)  5′ . . . CATCAT . . . 3′ 
C)  5′ . . . CATTTG . . . 3′ 
D)  5′ . . . GATTTC . . . 3′ 
E)  5′ . . . CAATTG . . . 3′ 
A)  5′ . . . CAATAG . . . 3′ 
B)  5′ . . . CATCAT . . . 3′ 
C)  5′ . . . CATTTG . . . 3′ 
D)  5′ . . . GATTTC . . . 3′ 
E)  5′ . . . CAATTG . . . 3′

Question 5

The research area of molecular genetics is bolstered by DNA sequencing for all of the following reasons except

Accepted Answer

A)  DNA sequencing technologies are continually improving. 
B)  the entire genomes of many organisms have been sequenced. 
C)  the genomes of closely related organisms have been sequenced. 
D)  it is now routinely used in medical diagnosis. 
E)  it can identify DNA changes that affect a protein's function. 
A)  DNA sequencing technologies are continually improving. 
B)  the entire genomes of many organisms have been sequenced. 
C)  the genomes of closely related organisms have been sequenced. 
D)  it is now routinely used in medical diagnosis. 
E)  it can identify DNA changes that affect a protein's function.

Question 6

Because DNA has a _______ charge, it moves to the _______ end of the field in gel electrophoresis.The _______ DNA molecules migrate the most quickly.

Accepted Answer

A)  positive; positive; smaller 
B)  positive; positive; larger 
C)  positive; negative; smaller 
D)  negative; positive; larger 
E)  negative; positive; smaller 
A)  positive; positive; smaller 
B)  positive; positive; larger 
C)  positive; negative; smaller 
D)  negative; positive; larger 
E)  negative; positive; smaller

Question 7

A common method for sorting DNA by size is _______.

Accepted Answer

The answer of A common method for sorting DNA by...

Question 8

Which mutation would probably be the most deleterious?

Accepted Answer

A)  A missense mutation in the second codon 
B)  A frame-shift mutation in the second codon 
C)  A nonsense mutation in the last codon 
D)  A silent mutation in the second codon 
E)  A missense mutation in the last codon 
A)  A missense mutation in the second codon 
B)  A frame-shift mutation in the second codon 
C)  A nonsense mutation in the last codon 
D)  A silent mutation in the second codon 
E)  A missense mutation in the last codon

Question 9

Refer to the table.   Alkaptonuria is an inborn error of metabolism, caused by defects in an enzyme in the pathway that breaks down tyrosine (see Section 14.1).Humans who are homozygous for one of these mutations make nonfunctional enzyme and accumulate the enzyme's substrate, homogentisic acid, which causes their disease symptoms.In 1996, researchers in Spain cloned and sequenced the gene for the enzyme and characterized several mutant alleles.The table shows the wild-type coding strand sequence for part of the gene and the corresponding region from one of the mutant alleles.What type of mutation is this?

Accepted Answer

A)  Silent 
B)  Nonsense 
C)  Frame-shift 
D)  Missense 
E)  Reversion 
A)  Silent 
B)  Nonsense 
C)  Frame-shift 
D)  Missense 
E)  Reversion

Question 10

In gel electrophoresis, one can determine the relative abundance of a fragment (compared with other fragments of the same size) by

Accepted Answer

A)  examining how quickly it moves on the gel; the fastest fragments are the most abundant. 
B)  examining how quickly it moves on the gel; the slowest fragments are the most abundant. 
C)  examining the intensity of the band; more intense bands are more abundant. 
D)  examining the intensity of the band; less intense bands are more abundant. 
E)  You cannot determine relative abundance of fragments using gel electrophoresis. 
A)  examining how quickly it moves on the gel; the fastest fragments are the most abundant. 
B)  examining how quickly it moves on the gel; the slowest fragments are the most abundant. 
C)  examining the intensity of the band; more intense bands are more abundant. 
D)  examining the intensity of the band; less intense bands are more abundant. 
E)  You cannot determine relative abundance of fragments using gel electrophoresis.

Question 11

A couple plans to have children.Since breast cancer has occurred on both sides of the family, they are concerned about their BRCA1 status and decide to have their genomes sequenced.With the guidance of a genetic counselor, they evaluate the results and are relieved to find that neither carries a BRCA1 allele associated with increased incidence of breast and ovarian cancer.However, they are upset to discover that they are both heterozygous for the gene that causes tissue-nonspecific alkaline phosphatase (TNSALP) deficiency, also known as hypophosphatasia.This disease affects osteoblasts and chondrocytes and results in impaired bone mineralization.One of the prospective parents carries a mutation associated with the severe form, which results in fatality not long after birth.Which test could ensure that the mother does not become pregnant with a fetus homozygous for hypophosphatasia?

Accepted Answer

A)  Prenatal screening 
B)  Postnatal screening 
C)  Amniocentesis 
D)  Chorionic villus sampling 
E)  Preimplantation screening 
A)  Prenatal screening 
B)  Postnatal screening 
C)  Amniocentesis 
D)  Chorionic villus sampling 
E)  Preimplantation screening

Question 12

Sequencing of a child's genomic DNA reveals that the child is a heterozygote for a new mutation.This mutation appears in all of the cells tested from a variety of tissues (including skin, blood, and hair).The mutation is not found in either the mother or the father.Most likely, this is a new _______ mutation that occurred in _______.

Accepted Answer

A)  somatic; one of the parents 
B)  somatic; the child 
C)  germ line; one of the parents 
D)  germ line; both of the parents 
E)  germ line; the child 
A)  somatic; one of the parents 
B)  somatic; the child 
C)  germ line; one of the parents 
D)  germ line; both of the parents 
E)  germ line; the child

Question 13

Refer to the chart of the genetic code.   Given the codon CUU, would any mutations in the first position result in a missense mutation? Explain.If there would be any changes, name them.

Accepted Answer

All changes in the first position would

Question 14

Which mutation will be least likely to alter the function of a protein?

Accepted Answer

A)  Conditional 
B)  Missense 
C)  Silent 
D)  Nonsense 
E)  Frame-shift 
A)  Conditional 
B)  Missense 
C)  Silent 
D)  Nonsense 
E)  Frame-shift

Question 15

Refer to the figure.   Would the above information be sufficient for determining what would happen if the DNA fragment was cut with both enzymes? Explain.

Accepted Answer

No. It is possible that one of

Question 16

DNA is _______ charged due to the presence of _______ groups.

Accepted Answer

A)  negatively; methyl 
B)  negatively; phosphate 
C)  negatively; carbon 
D)  positively; methyl 
E)  positively; phosphate 
A)  negatively; methyl 
B)  negatively; phosphate 
C)  negatively; carbon 
D)  positively; methyl 
E)  positively; phosphate

Question 17

When can variation at SNPs be detected using standard gel electrophoresis?

Accepted Answer

A)  When a large amount of DNA is used 
B)  When the SNP is at a restriction site and the corresponding restriction enzyme is used in the experiment 
C)  Only when using allele-specific oligonucleotide hybridization 
D)  When using PCR amplification 
E)  Variation at SNPs cannot be detected using gel electrophoresis 
A)  When a large amount of DNA is used 
B)  When the SNP is at a restriction site and the corresponding restriction enzyme is used in the experiment 
C)  Only when using allele-specific oligonucleotide hybridization 
D)  When using PCR amplification 
E)  Variation at SNPs cannot be detected using gel electrophoresis

Question 18

In a DNA electrophoresis procedure, a geneticist will most likely use a longer-than-usual gel matrix and allow the procedure to proceed for a longer length of time than usual when

Accepted Answer

A)  there is very little genetic material. 
B)  the DNA is negatively charged. 
C)  the DNA is positively charged. 
D)  the fragments are fairly similar in size. 
E)  the DNA has been cut by restriction enzymes. 
A)  there is very little genetic material. 
B)  the DNA is negatively charged. 
C)  the DNA is positively charged. 
D)  the fragments are fairly similar in size. 
E)  the DNA has been cut by restriction enzymes.

Question 19

Lofenelac, the milk-based product given to children with PKU, is

Accepted Answer

A)  high in phenylalanine. 
B)  low in phenylalanine. 
C)  fortified with an enzyme that metabolizes phenylalanine. 
D)  a form of gene therapy. 
E)  an example of a metabolic inhibitor. 
A)  high in phenylalanine. 
B)  low in phenylalanine. 
C)  fortified with an enzyme that metabolizes phenylalanine. 
D)  a form of gene therapy. 
E)  an example of a metabolic inhibitor.

Question 20

Which therapy is not used to treat disease in humans, because of ethical considerations?

Accepted Answer

A)  Ex vivo somatic gene therapy 
B)  In vivo somatic gene therapy 
C)  Germ line gene therapy 
D)  Metabolic inhibition 
E)  Substrate restriction 
A)  Ex vivo somatic gene therapy 
B)  In vivo somatic gene therapy 
C)  Germ line gene therapy 
D)  Metabolic inhibition 
E)  Substrate restriction

Exam 15: Gene Mutation and Molecular Medicine

Which treatment involves changing the genotype?

What type of mutation creates a stop codon?

The primary consequence of untreated phenylketonuria is

Which sequence is a palindromic recognition sequence?

The research area of molecular genetics is bolstered by DNA sequencing for all of the following reasons except

Because DNA has a _______ charge, it moves to the _______ end of the field in gel electrophoresis.The _______ DNA molecules migrate the most quickly.

A common method for sorting DNA by size is _______.

Which mutation would probably be the most deleterious?

In gel electrophoresis, one can determine the relative abundance of a fragment (compared with other fragments of the same size) by

Refer to the chart of the genetic code. Given the codon CUU, would any mutations in the first position result in a missense mutation? Explain.If there would be any changes, name them.

Which mutation will be least likely to alter the function of a protein?

Refer to the figure. Would the above information be sufficient for determining what would happen if the DNA fragment was cut with both enzymes? Explain.

DNA is _______ charged due to the presence of _______ groups.

When can variation at SNPs be detected using standard gel electrophoresis?

In a DNA electrophoresis procedure, a geneticist will most likely use a longer-than-usual gel matrix and allow the procedure to proceed for a longer length of time than usual when

Lofenelac, the milk-based product given to children with PKU, is

Which therapy is not used to treat disease in humans, because of ethical considerations?

Studying Life

Small Molecules and the Chemistry of Life

Proteins, Carbohydrates, and Lipids

Nucleic Acids and the Origin of Life

Cells: the Working Units of Life

Cell Membranes

Cell Communication and Multicellularity

Energy, Enzymes, and Metabolism

Pathways That Harvest Chemical Energy

Photosynthesis: Energy From Sunlight

The Cell Cycle and Cell Division

Inheritance, Genes, and Chromosomes

Dna and Its Role in Heredity

From Dna to Protein: Gene Expression

Regulation of Gene Expression

Genomes

Recombinant Dna and Biotechnology

Mechanisms of Evolution

Reconstructing and Using Phylogenies

Speciation

Evolution of Genes and Genomes

The History of Life on Earth

Bacteria, Archaea, and Viruses

The Origin and Diversification of Eukaryotes

Plants Without Seeds: From Water to Land

The Evolution of Seed Plants

The Evolution and Diversity of Fungi

Animal Origins and the Evolution of Body Plans

Protostome Animals

Deuterostome Animals

The Plant Body

Transport in Plants

Plant Nutrition

Regulation of Plant Growth

Reproduction in Flowering Plants

Plant Responses to Environmental Challenges

Physiology, Homeostasis, and Temperature Regulation

Animal Hormones

Immunology: Animal Defense Systems

Animal Reproduction

Animal Development

Neurons, Glia, and Nervous Systems

Sensory Systems

The Mammalian Nervous System: Structure and Higher Functions

Musculoskeletal Systems

Gas Exchange

Circulatory Systems

Nutrition, Digestion, and Absorption

Salt and Water Balance and Nitrogen Excretion

Animal Behavior

The Physical Environment and Biogeography of Life

Populations

Species Interactions

Communities

Ecosystems

A Changing Biosphere

Filters

Because DNA has a ___ charge, it moves to the _ end of the field in gel electrophoresis.The _____ DNA molecules migrate the most quickly.

DNA is _ charged due to the presence of _ groups.