Question 1

What technique can help identify a disease gene quickly by narrowing the focus?

Accepted Answer

A)  Compare the genome sequences of different species to identify conserved amino acids
B)  Filter the results to include only common polymorphisms
C)  Determine genotypes of parents and children at all SSR loci
D)  Use microarrays to identify silent mutations

Question 2

Which polymorphism is most likely to affect an individual's phenotype?

Accepted Answer

A)  An SNP in an intron of a protein-coding gene
B)  An SSR within a telomeric sequence
C)  A DIP in an intragenic region between genes
D)  An SNP in the start codon of a protein-coding gene

Question 3

Examine this pedigree that shows segregation of Huntington disease and the DNA marker G8.What was the most likely genotype of individual V-3 at the DNA marker?

Accepted Answer

A)  BC
B)  AB
C)  CC
D)  AC
E)  All of the possible genotypes are equally likely.

Question 4

Most polymorphisms do not result in a phenotypic difference because they are typically

Accepted Answer

A)  nonsense mutations.
B)  either missense or neutral mutations.
C)  either silent mutations or are in non-coding regions.
D)  either missense mutations or are in promoter regions.

Question 5

How many bases do deletion-insertion polymorphisms (DIPs) most frequently involve?

Accepted Answer

A)  1-2
B)  multiples of 3
C)  10-100
D)  more than 100 A

Question 6

How can databases of variants be used to help pinpoint a disease-causing mutation? (Select all that apply. )

Accepted Answer

A)  Polymorphisms found in individuals that do not have the syndrome can be eliminated from consideration.
B)  Common polymorphisms are unlikely to cause a rare disease and they can be eliminated from consideration.
C)  Some amino acids are conserved in genes across species; mutations in conserved amino acids are not likely to cause disease.
D)  Mutations that occur between genes are most likely to cause a genetic disease.

Question 7

The classical form of the metabolic disease phenylketonuria is caused by a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH) , which converts phenylalanine to tyrosine.A variant form of phenylketonuria is caused by a mutation in a separate gene that encodes a different enzyme involved in the synthesis of a cofactor needed for PAH to function.Which of the following phenomena is illustrated by these two forms of phenylketonuria?

Accepted Answer

A)  Allelic heterogeneity
B)  Compound heterozygosity
C)  Locus heterogeneity
D)  Anonymous polymorphism

Question 8

Allele-specific oligonucleotides (ASO) for the normal and disease alleles of a gene are in one section of a microarray.The disease is a recessive trait.If a probe made from an individual's genomic DNA hybridizes with both ASOs, what can be inferred about the individual?

Accepted Answer

A)  The individual has two normal alleles.
B)  The individual has the disease.
C)  50% of the individual's children are expected to be carriers.
D)  One of the individual's parents has the disease.

Question 9

Which are typically used for positional cloning of a disease gene in humans? (Select all that apply. )

Accepted Answer

A)  analysis of several human pedigrees in which the disease is segregating
B)  genotyping of diseased and healthy individuals at millions of anonymous polymorphisms using microarrays
C)  sequencing candidate genes
D)  a multigenerational selective breeding program

Question 10

Identifying candidates for a disease gene by positional cloning depends on distinguishing DNA markers that are close to the disease gene from markers that are far away.When the disease gene is close to a marker, there will be

Accepted Answer

A)  a high number of mutations in the intervening DNA.
B)  a low rate of recombination between the disease gene and the marker.
C)  many alleles at the marker locus.
D)  a high chance of locus heterogeneity.

Question 11

Positional cloning depends on knowing what?

Accepted Answer

A)  the function of a gene
B)  the expression pattern of a gene
C)  the map location of markers that are linked to a gene
D)  the sequence of a gene.

Question 12

Which statement about SNPs in the human genome is true?

Accepted Answer

A)  Most SNPs have an effect on phenotype.
B)  Any two human genome copies will have on average 3 million single nucleotide polymorphisms.
C)  SNPs refer only to deletions or insertions, not base substitutions.
D)  Most SNPs are located in the introns of genes, and thus effect phenotype.

Question 13

Which does a successful PCR require?

Accepted Answer

A)  at least 100 starting DNA template molecules
B)  some sequence information about the region to be amplified
C)  a cloned cDNA of the region to be amplified
D)  a double-stranded DNA template of at least 100 kb to amplify
E)  an undamaged DNA template with intact chromosomes

Question 14

The most common mutant allele of the PAH gene, which is responsible for the metabolic disorder PKU, has a SNP in the splice donor site of one intron.What is the simplest way to detect this allele?

Accepted Answer

A)  PCR using genomic DNA as template and two primers, one on either side of the SNP, followed by gel electrophoresis
B)  PCR using genomic DNA as template and two primers, one complementary to the region containing the SNP, followed by gel electrophoresis
C)  PCR using two primers, one on either side of the SNP, followed by sequencing the PCR products
D)  Direct exome sequencing using a microarray
E)  Whole-genome sequencing C

Question 15

In 2013, a man was arrested for transporting 400 pounds of marijuana across state lines.His DNA was tested, entered into the CODIS database, and found to match the crime scene sample in the Margaret Binkele case.What additional evidence would increase your confidence that the man arrested for transporting marijuana murdered Margaret Binkele? (Select all that apply. )

Accepted Answer

A)  A receipt that showed the man used his credit card in Texas on the night of the murder
B)  The genotype at additional SSR loci that show a match at seven and a mismatch at three loci.
C)  Discovery of the man's fingerprints on the murder weapon
D)  A match between his blood and the crime scene sample at more than three SSR loci

Question 16

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 19 parental and 1 recombinant offspring.
-The results of this mating are sufficient to conclude with confidence that the gene of interest and the DNA marker are linked.

Accepted Answer

A) True 
 B)False  True

Question 17

Which are limitations of preimplantation embryo diagnosis? (Select all that apply. )

Accepted Answer

A)  The technique is technologically complex and expensive.
B)  Only certain well-defined genetic diseases can be tested.
C)  The test increases the rate of twin births.
D)  Removal of one cell from an eight-cell embryo results in permanent damage to the embryo.

Question 18

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 6 parental and 3 recombinant offspring

-What is the maximum Lod score for this mating?

Accepted Answer

A)  0.22
B)  1.1
C)  6.3
D)  11

Question 19

Which is an example of a SNP? (Select all that apply. )

Accepted Answer

A)  A single base near the neurofibromatosis gene can be a G or a T; phenotype is not affected.
B)  A single base change in the gene for β globin changes an amino acid and results in sickle cell anemia.
C)  Individuals with Huntington disease have more trinucleotide repeats in the coding region of the HD gene than normal individuals.
D)  The most common cystic fibrosis allele has a deletion of three base pairs in the coding region of the CFTR gene.

Question 20

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 19 parental and 1 recombinant offspring.
-What is the maximum Lod score for linkage at this locus?

Accepted Answer

A)  0.22
B)  1.1
C)  6.3
D)  11

Exam 11: Analyzing Genomic Variation

What technique can help identify a disease gene quickly by narrowing the focus?

Correct Answer
verified

Which polymorphism is most likely to affect an individual's phenotype?

Correct Answer
verified

Examine this pedigree that shows segregation of Huntington disease and the DNA marker G8.What was the most likely genotype of individual V-3 at the DNA marker?

Correct Answer
verified

Most polymorphisms do not result in a phenotypic difference because they are typically

Correct Answer
verified

How many bases do deletion-insertion polymorphisms (DIPs) most frequently involve?

Correct Answer
verified
A

How can databases of variants be used to help pinpoint a disease-causing mutation? (Select all that apply. )

Correct Answer
verified

Correct Answer
verified

Allele-specific oligonucleotides (ASO) for the normal and disease alleles of a gene are in one section of a microarray.The disease is a recessive trait.If a probe made from an individual's genomic DNA hybridizes with both ASOs, what can be inferred about the individual?

Correct Answer
verified

Which are typically used for positional cloning of a disease gene in humans? (Select all that apply. )

Correct Answer
verified

Identifying candidates for a disease gene by positional cloning depends on distinguishing DNA markers that are close to the disease gene from markers that are far away.When the disease gene is close to a marker, there will be

Correct Answer
verified

Positional cloning depends on knowing what?

Correct Answer
verified

Which statement about SNPs in the human genome is true?

Correct Answer
verified

Which does a successful PCR require?

Correct Answer
verified

The most common mutant allele of the PAH gene, which is responsible for the metabolic disorder PKU, has a SNP in the splice donor site of one intron.What is the simplest way to detect this allele?

Correct Answer
verified
C

Correct Answer
verified

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 19 parental and 1 recombinant offspring. -The results of this mating are sufficient to conclude with confidence that the gene of interest and the DNA marker are linked.

Correct Answer
verified
True

Which are limitations of preimplantation embryo diagnosis? (Select all that apply. )

Correct Answer
verified

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 6 parental and 3 recombinant offspring -What is the maximum Lod score for this mating?

Correct Answer
verified

Which is an example of a SNP? (Select all that apply. )

Correct Answer
verified

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 19 parental and 1 recombinant offspring. -What is the maximum Lod score for linkage at this locus?

Correct Answer
verified

Exam 11: Analyzing Genomic Variation

What technique can help identify a disease gene quickly by narrowing the focus?

Correct AnswerverifiedShow Answer

Which polymorphism is most likely to affect an individual's phenotype?

Correct AnswerverifiedShow Answer

Examine this pedigree that shows segregation of Huntington disease and the DNA marker G8.What was the most likely genotype of individual V-3 at the DNA marker?

Correct AnswerverifiedShow Answer

Most polymorphisms do not result in a phenotypic difference because they are typically

Correct AnswerverifiedShow Answer

How many bases do deletion-insertion polymorphisms (DIPs) most frequently involve?

Correct AnswerverifiedA

How can databases of variants be used to help pinpoint a disease-causing mutation? (Select all that apply. )

Correct AnswerverifiedShow Answer

Correct AnswerverifiedShow Answer

Allele-specific oligonucleotides (ASO) for the normal and disease alleles of a gene are in one section of a microarray.The disease is a recessive trait.If a probe made from an individual's genomic DNA hybridizes with both ASOs, what can be inferred about the individual?

Correct AnswerverifiedShow Answer

Which are typically used for positional cloning of a disease gene in humans? (Select all that apply. )

Correct AnswerverifiedShow Answer

Identifying candidates for a disease gene by positional cloning depends on distinguishing DNA markers that are close to the disease gene from markers that are far away.When the disease gene is close to a marker, there will be

Correct AnswerverifiedShow Answer

Positional cloning depends on knowing what?

Correct AnswerverifiedShow Answer

Which statement about SNPs in the human genome is true?

Correct AnswerverifiedShow Answer

Which does a successful PCR require?

Correct AnswerverifiedShow Answer

The most common mutant allele of the PAH gene, which is responsible for the metabolic disorder PKU, has a SNP in the splice donor site of one intron.What is the simplest way to detect this allele?

Correct AnswerverifiedC

Correct AnswerverifiedShow Answer

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 19 parental and 1 recombinant offspring. -The results of this mating are sufficient to conclude with confidence that the gene of interest and the DNA marker are linked.

Correct AnswerverifiedTrue

Which are limitations of preimplantation embryo diagnosis? (Select all that apply. )

Correct AnswerverifiedShow Answer

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 6 parental and 3 recombinant offspring -What is the maximum Lod score for this mating?

Correct AnswerverifiedShow Answer

Which is an example of a SNP? (Select all that apply. )

Correct AnswerverifiedShow Answer

Linkage between a gene of interest and a DNA marker is being studied. A mating results in 19 parental and 1 recombinant offspring. -What is the maximum Lod score for linkage at this locus?

Correct AnswerverifiedShow Answer

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A

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C

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True

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