Deck 10: Analyzing Genomic Information

Question 1

Which is the most frequent type of DNA polymorphism?

A)single base differences
B)duplications
C)inversions
D)translocations
E)changes in ploidy
Blooms Level 1: Remember

Answer 1

single base differences

Question 2

Which of the following is the main source of variation in microsatellites?

A)chemicals in water
B)chemicals in food
C)ultraviolet light
D)background radiation
E)faulty DNA replication
Blooms Level 1: Remember

Answer 2

faulty DNA replication
Blooms Level 1: Remember

Question 3

Mapping a disease gene in humans requires

A)small families with pedigrees and DNA sequences.
B)large numbers of mapped physical markers with complete genomic coverage and small families with pedigrees and DNA sequences.
C)small numbers of mapped markers and small families with pedigrees and DNA sequences
D)a multi-generational selective breeding program.

Answer 3

large numbers of mapped physical markers with complete genomic coverage and small families with pedigrees and DNA sequences.

Question 4

How many bases do deletions, duplications, and insertions most frequency involve?

A)1
B)10
C)100
D)1000

Question 5

Positional cloning requires knowledge about the

A)function of a gene.
B)expression pattern of a gene.
C)map location of a gene.
D)sequence of a gene.

Question 6

Deletions and duplications are most often caused by

A)ultraviolet light.
B)chemical damage.
C)unequal crossing over.
D)spontaneous errors in DNA replication.

Question 7

In microsatellites, one-, two-, or three-base sequences are repeated about

A)one million times.
B)one hundred thousand times.
C)one thousand times.
D)two hundred times.
E)15-100 times. Blooms Level 1: Remember

Question 8

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?

A)Nonanonymous polymorphism
B)Allelic heterogeneity
C)Compound heterozygosity
D)Locus heterogeneity
E)Anonymous polymorphism
Blooms Level 3: Apply

Question 9

Examine this pedigree.Given the disease and marker phenotypes of her children, what was the most likely marker phenotype of individual V-3?

A)BC
B)AB
C)CC
D)AC
E)No prediction can be made
Blooms Level 4: Analyze

Question 10

SNP is the acronym for:

A)simple Northern probe.
B)single nucleotide polymorphism.
C)sample in situ probe.
D)simple nucleotide probe.

Question 11

Why is possible to find a unique genetic profile for an individual using the information about a relatively few SSRs?

A)There is a high variablility of SSRs in the population.
B)SSRs have a very high mutation rate in individuals.
C)SSRs inheritance follows Mendel's law of segregation.
D)Recombination during meiosis results in new combinations of SSRs in the offspring.

Question 12

If a single DNA molecule is amplified by PCR, how many DNA molecules will there be after six cycles?

A)6
B)12
C)24
D)64
E)86
Blooms Level 3: Apply

Question 13

What is true of DNA arrays?

A)They are typically used to determine the expression levels of only a single gene in one experiment.
B)They are useful for determining the changes in levels of protein in a cell in response to environmental stimuli..
C)They are used to measure the levels of mRNA and protein at the same time.
D)They can be used to compare the expression of mRNA from all the genes in cells under two different environmental conditions

Question 14

In using PCR for preimplantation embryo analysis for diseases, one limitation is that

A)their is a finite probability tht the removal of the cells will itself result in a fetus that cannot undergo normal development.
B)the cost of the technique is prohibitive.
C)only a limited number of genetically well defined disease can be reasonably screened for.
D)few individuals will opt for performing these tests.

Question 15

For a gene or a locus to be considered polymorphic it must satisfy the following two conditions must be present in

A)all males and females.
B)two or more sequence variations in at least 10% of the population.
C)two or more sequence variations in at least 1% of the population.
D)two or more sequence variations in at least 10% of children, since not all may reach adulthood.
E)two or more sequence variations in at least 1% of children, since not all may reach adulthood. Blooms Level 1: Remember

Question 16

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

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 17

One consequence of an individual who has compound heterozygosity at the CFTR locus is

A)if the individual has children all the children will be affected
B)the parents will most likely have CF as well
C)the condition will be more difficult to diagnose
D)any drug that might effectively treat one allele will probably not affect another

Question 18

PCR cannot be successfully performed without

A)at least 100 starting DNA molecules.
B)at least some sequence information about the region to be amplified.
C)a cDNA version of the region to be amplified.
D)a section of at least 100 kb to amplify.
E)an undamaged, nondegraded DNA sample. Blooms Level 2: Understand

Question 19

How could PCR be used for the detection of a SNP?

A)PCR coupled with Southern blotting using one of the primers as a probe.
B)The PCR reaction would need to be sequenced.
C)The PCR reaction could be subjected to agarose gel electrophoresis to determine the presence and size of the fragment.
D)If a fragment is amplified then the SNP is present, no other techniques would have to be used

Question 20

If a PCR amplified sample hybridizes with two allele specific probes, one normal and one mutant sequence, a carrier is identified if

A)both probes give a signal.
B)neither sample gives a signal.
C)only the mutant probe gives a signal.
D)only the non-mutant probe gives a signal.
E)None of the choices is correct. Blooms Level 3: Apply

Question 21

What techniques can be used to focus on a limited number of genes as being involved in a disease?

A)Comparison of genome sequence between variant databases.
B)Microarrays for mRNA expression analysis.
C)Analysis of all SSRs
D)Selection for those variants that result in silent mutations.

Question 22

SSR loci between homologous chromosomes in the same individual _________; SSR loci for the same chromosome in different individuals ________.

A)are always the same; are always different
B)can be the same or different; can be the same or different
C)are always the same; can be the same or different
D)can be the same or different; are always different

Question 23

You are working in a lab where you are studying a disease that is known to be caused by a single nucleotide change, although the effect this change ultimately has on the protein's structure/function is unknown.You have DNA samples from multiple patients that you suspect of having this disease.What is the most efficient way to test the samples for the relevant mutation?

A)Preimplantation genetic diagnosis
B)DNA sequencing
C)Karyotyping
D)Amniocentesis

Question 24

If a mating results in 19 parental and 1 recombinant type offspring between a gene of interest and a marker locus, what is the Lod score for linkage at this locus?

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

Question 25

The process of _______ removes amniotic fluid from a pregnant mother to examine fetal cells for genetic problems.

A)amniocentesis
B)chorionic villus sampling
C)preimplantation genetic diagnosis
D)in vitro fertilization

Question 26

If a mating results in 6 parental and 3 recombinant type offspring between a gene of interest and a marker locus, what is the Lod score for linkage at this locus?

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

Question 27

Which principle is used in DNA microarrays to differentiate between a wild-type allele and a disease allele that differs at only one nucleotide?

A)Copy number variation
B)Differences in DNA hybridization
C)Polymerase chain reaction
D)Locus heterogeneity

Question 28

How are databases of variants used to help find disease gene candidates?

A)Variants from individuals that do not have the syndrome can be used to eliminate those variants as involved in causing the disease.
B)They can indicate the probability of different variants appearing in a population.
C)Variants from individuals that do not have the syndrome are not useful for this purpose.
D)They can indicate rare variants that will help with the genetic identification of individuals.

Question 29

When a scientist is attempting to use positional cloning to link a disease-causing allele to a molecular marker, it is important for the marker to be close to the disease-causing allele, otherwise _____ may occur.

A)additional mutation
B)recombination
C)polymorphism
D)locus heterogeneity

Question 30

What is a limitation of using pedigrees for positional cloning?

A)Some matings may not be informative.
B)Recombination occurs during meiosis.
C)Pedigrees can be unreliable for many traits.
D)Pedigrees are not based on DNA sequences.

Question 31

What DNA sequencing technique is useful for high throughput sequencing?

A)Sequencing using oligoarrays and fluorescent dyes.
B)Dideoxynucleotides and radioactive nucleotides.
C)Chemical degradation with radioactive nucleotides.
D)Fluorescent nucleotides combined with acrylamide gel electrophoresis to separate the fragments.

Question 32

Which of the following polymorphism would you predict to most likely affect an individual's phenotype?

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

Question 33

In the United States, most newborns undergo a test for primary congenital hypothyroidism, a condition where people are unable to produce enough thyroid hormone.Which of the following technologies can potentially facilitate the genetic screening of many newborns at higher efficiency and lower cost?

A)chorionic villus sampling.
B)whole-exome sequencing.
C)amniocentesis.
D)preimplantation genetic diagnosis.

Question 34

Herceptin is a drug that is given to treat certain breast cancers.However, it is most effective on tumors that are overexpressing the gene HER2.Which of the following strategies would be best for determining whether Herceptin would be effective in a given patient?

A)Perform preimplantation genetic diagnosis on a patient to determine whether the patient's germ cells contain mutations in HER2, and treat with Herceptin if they do.
B)Obtain a patient's HER2 sequence and compare it to a database of known HER2 mutations to determine whether the overexpression allele is present; if the overexpression allele is present, give Herceptin.
C)Obtain a patient's HER2 sequence and compare it to a database of known HER2 mutations to confirm that the patient has mutations in the gene; then give Herceptin if any mutation is found.
D)Obtain a patient's HER2 sequence and perform microarray analysis to determine whether the patient contains other mutations in addition to the overexpression allele.