Question 1

Which scenario is representative of a multifactorial disease?

Accepted Answer

A)  The gene responsible for the disease contains a triplet sequence, CGG, in the promotor region, which is repeated 500 times. 
B)  There is loss of function of a normal tumor suppressor gene, followed by abnormal cell growth, activation of an oncogene, continued abnormal cell growth, and loss of function of additional tumor suppressor genes, ultimately leading to cancer. 
C)  Parts of chromosomes 10 and 19 are swapped (translocated), and as a result, gene A on chromosome 10 becomes fused with gene B on chromosome 19, resulting in a gain-of-function mutation causing uncontrolled cell division. 
D)  A point mutation leading to a frame-shift mutation in gene A results in the production of a nonfunctional protein. 
E)  A chromosome breaks at two points and then rejoins, leaving out the DNA between the breaks, thus resulting in a deletion of gene A. 
A)  The gene responsible for the disease contains a triplet sequence, CGG, in the promotor region, which is repeated 500 times. 
B)  There is loss of function of a normal tumor suppressor gene, followed by abnormal cell growth, activation of an oncogene, continued abnormal cell growth, and loss of function of additional tumor suppressor genes, ultimately leading to cancer. 
C)  Parts of chromosomes 10 and 19 are swapped (translocated), and as a result, gene A on chromosome 10 becomes fused with gene B on chromosome 19, resulting in a gain-of-function mutation causing uncontrolled cell division. 
D)  A point mutation leading to a frame-shift mutation in gene A results in the production of a nonfunctional protein. 
E)  A chromosome breaks at two points and then rejoins, leaving out the DNA between the breaks, thus resulting in a deletion of gene A.

Question 2

The screening technique that uses probes of very short segments of DNA to screen for genetic diseases is called _______.

Accepted Answer

allele-spe

Question 3

Fragile-X syndrome

Accepted Answer

A)  is an example of aneuploidy. 
B)  always results in mental retardation. 
C)  only affects males. 
D)  involves repeats of a codon. 
E)  is an example of a translocation. 
A)  is an example of aneuploidy. 
B)  always results in mental retardation. 
C)  only affects males. 
D)  involves repeats of a codon. 
E)  is an example of a translocation.

Question 4

Which condition most likely leads to mutations that can be observed in a karyotype (a direct examination of an individual's chromosomes)?

Accepted Answer

A)  Errors caused by DNA polymerase 
B)  Tautomer changes of nucleotides 
C)  Deamination of nucleotides 
D)  Nondisjunction 
E)  Modifications of nucleotides 
A)  Errors caused by DNA polymerase 
B)  Tautomer changes of nucleotides 
C)  Deamination of nucleotides 
D)  Nondisjunction 
E)  Modifications of nucleotides

Question 5

Which statement about mutations is true?

Accepted Answer

A)  All point mutations are transitions. 
B)  All transitions are point mutations. 
C)  All point mutations are base substitutions. 
D)  All point mutations are nonsense mutations. 
E)  All point mutations are missense mutations. 
A)  All point mutations are transitions. 
B)  All transitions are point mutations. 
C)  All point mutations are base substitutions. 
D)  All point mutations are nonsense mutations. 
E)  All point mutations are missense mutations.

Question 6

A loss-of-function germ line mutation affecting the DNA mismatch repair protein MSH2 is autosomal dominant.For those types of cancers whose causes are multifactorial, the presence of this mutation will decrease the number of _______ mutations required for the development of the cancer.

Accepted Answer

The answer of A loss-of-function germ line mutation affecting the...

Question 7

A researcher is working with a cell line that was derived from a tumor.The cells continuously divide in culture.The researcher transfects the cell line with a gene, and the cells stop dividing.The gene transfected into the cell line is a wild-type tumor _______ gene.

Accepted Answer

The answer of A researcher is working with a cell...

Question 8

Which of the following techniques involves the manipulation of single-stranded DNA?

Accepted Answer

A)  Restriction digestion 
B)  Allele-specific oligonucleotide hybridization 
C)  Gel electrophoresis 
D)  PCR amplification 
E)  DNA linkage analysis 
A)  Restriction digestion 
B)  Allele-specific oligonucleotide hybridization 
C)  Gel electrophoresis 
D)  PCR amplification 
E)  DNA linkage analysis

Question 9

Most diseases that are genetic are _______; that is, they are caused by the interactions of many genes as well as by environmental factors.

Accepted Answer

The answer of Most diseases that are genetic are _______;...

Question 10

The mutagenic chemicals called nitrosamines are metabolic by-products of

Accepted Answer

A)  chemical detergents. 
B)  benzopyrene. 
C)  meat preservatives. 
D)  asparagus. 
E)  phenylalanine. 
A)  chemical detergents. 
B)  benzopyrene. 
C)  meat preservatives. 
D)  asparagus. 
E)  phenylalanine.

Question 11

Like the mitochondrial DNA in a human cell, the DNA in a plasmid is independent, circular, self-replicating, and double-stranded.Plasmids are found in many types of bacteria.Plasmids can be linearized using restriction enzymes.If a plasmid is resistant to digestion by a particular restriction enzyme, it is probable that the recognition sequence contains one or more _______ groups.

Accepted Answer

A)  palindromic 
B)  carboxyl 
C)  phosphate 
D)  sugar 
E)  methyl 
A)  palindromic 
B)  carboxyl 
C)  phosphate 
D)  sugar 
E)  methyl

Question 12

Mutational "hot spots" in human DNA

Accepted Answer

A)  always occur in genes that are transcribed. 
B)  are very rare in genes that code for proteins. 
C)  involve long stretches of nucleotides. 
D)  occur only where there are long repeats. 
E)  are common at cytosines that have been methylated. 
A)  always occur in genes that are transcribed. 
B)  are very rare in genes that code for proteins. 
C)  involve long stretches of nucleotides. 
D)  occur only where there are long repeats. 
E)  are common at cytosines that have been methylated.

Question 13

An adult, who is one of identical triplets, develops breast cancer at the age of 54.Neither of the other two identical siblings develops breast cancer.This scenario supports the notion that cancer development is

Accepted Answer

A)  always dependent upon germ line mutations. 
B)  usually due to expanding triplet repeats. 
C)  only caused by somatic mutations. 
D)  usually caused by interactions of many genes/proteins with one or more factors in the environment. 
E)  due to inversions. 
A)  always dependent upon germ line mutations. 
B)  usually due to expanding triplet repeats. 
C)  only caused by somatic mutations. 
D)  usually caused by interactions of many genes/proteins with one or more factors in the environment. 
E)  due to inversions.

Question 14

Refer to the figure.   The figure shows a map of a linear fragment of DNA that can be digested with two restriction enzymes, A and B.The letter (a) represents the location where enzyme A cuts, and the letter (b) represents the location where enzyme B cuts.The numbers are the distances between restriction sites in kilobases (1 kilobase = 1,000 bp).Draw the results of gel electrophoresis, with Lane A representing DNA cut with just enzyme A, Lane B representing DNA cut with just enzyme B, and Lane C representing DNA cut with both enzymes.Lane D should contain reference DNA fragments of 1, 2, 4, 10, and 20 kilobases.Show the direction of the electric current.

Accepted Answer

The answer of Refer to the figure.   The...

Question 15

Whether a loss-of-function mutation will be dominant or recessive (or anywhere in between) depends mainly on whether

Accepted Answer

A)  it is a somatic mutation. 
B)  it is a point mutation. 
C)  50 percent of the normal product from the gene is sufficient to give a normal phenotype. 
D)  it is a conditional mutation. 
E)  it is in the germ line. 
A)  it is a somatic mutation. 
B)  it is a point mutation. 
C)  50 percent of the normal product from the gene is sufficient to give a normal phenotype. 
D)  it is a conditional mutation. 
E)  it is in the germ line.

Question 16

Fragile-X syndrome

Accepted Answer

A)  is an example of aneuploidy. 
B)  involves a single nucleotide polymorphism. 
C)  is caused by chromosome deletion. 
D)  is an autosomal recessive disease. 
E)  typically behaves as a sex-linked recessive trait. 
A)  is an example of aneuploidy. 
B)  involves a single nucleotide polymorphism. 
C)  is caused by chromosome deletion. 
D)  is an autosomal recessive disease. 
E)  typically behaves as a sex-linked recessive trait.

Question 17

In sickle-cell disease, there is a mutation that causes an amino acid in _______ to be replaced with an amino acid that is _______.This change causes the protein to form needlelike aggregates in red blood cells.

Accepted Answer

A)  hemoglobin; hydrophobic 
B)  hemoglobin; hydrophilic 
C)  phenylalanine hydroxylase; hydrophobic 
D)  phenylalanine hydroxylase; hydrophilic 
E)  dystrophin; hydrophobic 
A)  hemoglobin; hydrophobic 
B)  hemoglobin; hydrophilic 
C)  phenylalanine hydroxylase; hydrophobic 
D)  phenylalanine hydroxylase; hydrophilic 
E)  dystrophin; hydrophobic

Question 18

Aflatoxin, a chemical produced by the mold Aspergillus, is an example of a(n) _______ mutagen.

Accepted Answer

The answer of Aflatoxin, a chemical produced by the mold...

Question 19

In 2001, the cost of sequencing the human genome cost $100 million.In 2014 the company Illumina advertised human genome sequencing for $1,000.This dramatic drop in cost is enabling the expansion of an area of research called _______ genetics, which studies how DNA changes lead to specific protein changes.

Accepted Answer

The answer of In 2001, the cost of sequencing the...

Question 20

Fetuses with PKU usually are _______ because the mother's blood _______.

Accepted Answer

A)  symptom free; has the enzyme to metabolize phenylalanine 
B)  afflicted with the disease; is lacking in tyrosine 
C)  afflicted with the disease; has the enzyme to metabolize phenylalanine 
D)  symptom-free; is rich in phenylalanine 
E)  afflicted with the disease; is rich in phenylalanine 
A)  symptom free; has the enzyme to metabolize phenylalanine 
B)  afflicted with the disease; is lacking in tyrosine 
C)  afflicted with the disease; has the enzyme to metabolize phenylalanine 
D)  symptom-free; is rich in phenylalanine 
E)  afflicted with the disease; is rich in phenylalanine

Exam 15: Gene Mutation and Molecular Medicine

Which scenario is representative of a multifactorial disease?

The screening technique that uses probes of very short segments of DNA to screen for genetic diseases is called _______.

Fragile-X syndrome

Which condition most likely leads to mutations that can be observed in a karyotype (a direct examination of an individual's chromosomes)?

Which statement about mutations is true?

A loss-of-function germ line mutation affecting the DNA mismatch repair protein MSH2 is autosomal dominant.For those types of cancers whose causes are multifactorial, the presence of this mutation will decrease the number of _______ mutations required for the development of the cancer.

A researcher is working with a cell line that was derived from a tumor.The cells continuously divide in culture.The researcher transfects the cell line with a gene, and the cells stop dividing.The gene transfected into the cell line is a wild-type tumor _______ gene.

Which of the following techniques involves the manipulation of single-stranded DNA?

Most diseases that are genetic are _______; that is, they are caused by the interactions of many genes as well as by environmental factors.

The mutagenic chemicals called nitrosamines are metabolic by-products of

Mutational "hot spots" in human DNA

An adult, who is one of identical triplets, develops breast cancer at the age of 54.Neither of the other two identical siblings develops breast cancer.This scenario supports the notion that cancer development is

Whether a loss-of-function mutation will be dominant or recessive (or anywhere in between) depends mainly on whether

Fragile-X syndrome

In sickle-cell disease, there is a mutation that causes an amino acid in _______ to be replaced with an amino acid that is _______.This change causes the protein to form needlelike aggregates in red blood cells.

Aflatoxin, a chemical produced by the mold Aspergillus, is an example of a(n) _______ mutagen.

Fetuses with PKU usually are _______ because the mother's blood _______.

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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

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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

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Plants Without Seeds: From Water to Land

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In sickle-cell disease, there is a mutation that causes an amino acid in _ to be replaced with an amino acid that is _.This change causes the protein to form needlelike aggregates in red blood cells.

Fetuses with PKU usually are _ because the mother's blood _.