Question 1

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

Question 2

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 
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 3

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 4

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. 
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 5

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. 
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 6

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. 
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 7

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. 
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 8

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

Question 9

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

Question 10

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. 
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 11

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 
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 12

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. 
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 13

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. 
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 14

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

Question 15

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 
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 16

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 
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 17

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. 
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 18

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 
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 19

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

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

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?

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.

Positional cloning depends on knowing what?

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?

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

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

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?

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

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

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

Which statement about SNPs in the human genome is true?

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?

Which does a successful PCR require?

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

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

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

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?

Genetics: the Study of Biological Information

Mendels Principles of Heredity

Extensions to Mendels Laws

The Chromosome Theory of Inheritance

Linkage, Recombination, and the Mapping of Genes on Chromosomes

DNA Structure, Replication, and Recombination

Anatomy and Function of a Gene: Dissection Through Mutation

Gene Expression: the Flow of Information From Dna to Rna to Protein

Digital Analysis of Dna

Genome Annotation

The Eukaryotic Chromosome

Chromosomal Rearrangements and Changes in Chromosome Number

Bacterial Genetics

Organellar Inheritance

Gene Regulation in Prokaryotes

Gene Regulation in Eukaryotes

Manipulating the Genomes of Eukaryotes

The Genetic Analysis of Development

The Genetics of Cancer

Variation and Selection in Populations

The Genetics of Complex Traits

Filters

Exam 11: Analyzing Genomic Variation

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

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?

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.

Positional cloning depends on knowing what?

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?

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

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

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?

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

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

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

Which statement about SNPs in the human genome is true?

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?

Which does a successful PCR require?

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

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

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

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?

Genetics: the Study of Biological Information

Mendels Principles of Heredity

Extensions to Mendels Laws

The Chromosome Theory of Inheritance

Linkage, Recombination, and the Mapping of Genes on Chromosomes

DNA Structure, Replication, and Recombination

Anatomy and Function of a Gene: Dissection Through Mutation

Gene Expression: the Flow of Information From Dna to Rna to Protein

Digital Analysis of Dna

Genome Annotation

The Eukaryotic Chromosome

Chromosomal Rearrangements and Changes in Chromosome Number

Bacterial Genetics

Organellar Inheritance

Gene Regulation in Prokaryotes

Gene Regulation in Eukaryotes

Manipulating the Genomes of Eukaryotes

The Genetic Analysis of Development

The Genetics of Cancer

Variation and Selection in Populations

The Genetics of Complex Traits

Filters