Chapter 15 – Genomes and Genomics
True / False
1. Direct-to-consumer genetic testing is available from several companies.
a.
True
b.
False
True
15–1: Genomics and Personalized Medicine
conditions.
2. The advent of recombinant DNA technology made the sequencing of genomes possible.
a.
True
b.
False
3. The goal of pharmacogenomics is to identify genes related to human diseases.
a.
True
b.
False
False
15–4: Genome Projects Have Created New Scientific Fields
research.
4. The distances between genes on a genetic map are measured in base pairs.
a.
True
b.
False
False
15–5: Genomics: Sequencing, Identifying, and Mapping Genes
5. The number of proteins produced by the human genome is significantly less than the number of genes it contains.
a.
True
b.
False
False
15–6: What Have We Learned So Far About the Human Genome?
6. Genetic similarities between humans and laboratory animal models facilitate research on the cause, diagnosis, and
treatment of human genetic disease.
a.
True
b.
False
True
15–7: Using Genomics to Study a Human Genetic Disorder
upon whether the mutant protein has a known or unknown function.
7. Distances between linked genes in centimorgans (cM) can be converted directly to the physical distances between them
on the chromosome.
a.
True
b.
False
False
15–2: Genome Sequencing is an Extension of Genetic Mapping
8. The genomes of all the microbes present in or on the human body are collectively known as the proteome.
a.
True
b.
False
False
15–8: The Human Microbiome is Our Other Genome
of the Human Microbiome Project.
9. One goal of proteomics research is to identify proteins that could be targets for new drugs.
a.
True
b.
False
True
15–9: Proteomics is an Extension of Genomics
disease.
10. The Ethical, Legal, and Social Issues program seeks to deal with issues related to privacy, fairness, discrimination, and
reproductive decisions that emerge due to the availability of genomic information.
a.
True
b.
False
True
Chapter 15 – Genomes and Genomics
Multiple Choice
11. The confirmed diagnosis that Baby T had Bartter syndrome was based on the use of ____, which sequenced only the
protein coding regions of the genome.
a.
whole genome sequencing
b.
whole exome sequencing
c.
whole introme sequencing
d.
SNP analysis
e.
whole proteome analysis
b
Bloom’s: Remember
15–1: Genomics and Personalized Medicine
used to identify and diagnose genetic conditions.
12. Approximately what percentage of the human genome encodes proteins?
a.
1
b.
3
c.
5
d.
15
e.
50
Bloom’s: Remember
15–1: Genomics and Personalized Medicine
used to identify and diagnose genetic conditions.
13. Positional cloning is used to link the inheritance of a disease in a pedigree to the inheritance of _____.
a.
other diseases or conditions
b.
a specific blood type
c.
other genes whose loci were known
d.
marker sequences produced by restriction enzymes
e.
X-linked genes
d
Bloom’s: Understand
15–2: Genome Sequencing is an Extension of Genetic Mapping
genetic mapping.
14. If two genes have a lod score of 1.2, this indicates that they are most likely_____.
a.
disease causing genes
Bloom’s: Remember
15–8: The Human Microbiome is Our Other Genome
of the Human Microbiome Project.
Chapter 15 – Genomes and Genomics
b.
linked on an autosome
c.
X-linked
d.
on separate chromosomes
e.
in separate genomes
d
Bloom’s: Apply
15–2: Genome Sequencing is an Extension of Genetic Mapping
probability of linkage between two traits when human pedigree analysis is unavailable.
15. Historically, inheritance of _____ was used to study the genome organization, as well as biological processes such as
metabolism and development.
a.
chromosomal abnormalities
b.
blood types
c.
SNPs in humans and lab animals
d.
induced mutations in humans
e.
induced and spontaneous mutations in lab animals
e
Bloom’s: Understand
15–2: Genome Sequencing is an Extension of Genetic Mapping
humans.
16. What was the primary goal of the Human Genome Project?
a.
Sequencing the mouse and fruit fly genomes
b.
Studying the human proteome
c.
Sequencing the genomes of humans and common lab organisms
d.
Mutational analysis of the fruit fly genome
e.
Sequencing the human microbiome
17. A branch of genomics that generates three-dimensional structures from their amino acid sequences is known as _____.
a.
bioinformatics
b.
comparative genomics
c.
structural genomics
d.
pharmacogenomics
e.
proteomics
c
Bloom’s: Remember
15–4: Genome Projects Have Created New Scientific Fields
HUHE.CUMM.16.15-4-1 – Define the terms genomics, comparative genomics, structural
18. Some people are unable to properly metabolize the drug Purinethol, which is given to patients with acute
lymphoblastic leukemia; therefore, such patients must be first tested for the associated genetic variant to determine proper
dosage of the drug. This scenario best illustrates the use of _____.
a.
pharmacogenomics
b.
map-based sequencing
c.
positional cloning
d.
annotation of DNA sequences
e.
comparative genomics
a
Bloom’s: Apply
15–4: Genome Projects Have Created New Scientific Fields
research.
19. After completion of a genome sequencing project, the DNA sequences are analyzed to locate and identify genes in a
process called _____.
a.
automation
b.
comparative genomics
c.
physical mapping
d.
compilation
e.
annotation
e
Bloom’s: Understand
15–5: Genomics: Sequencing, Identifying, and Mapping Genes
20. Since the whole genome sequencing method eliminates the need for constructing physical and genetic maps, this
method is _____.
a.
superior for linkage studies
b.
the only sequencing method currently used in genomics research
c.
faster than the map-based sequencing method
d.
more accurate than the map-based sequencing method
e.
less accurate than the map-based sequencing method
c
Bloom’s: Understand
15–5: Genomics: Sequencing, Identifying, and Mapping Genes
21. Which of the following sequences indicates the promoter region of a gene?
research.
Chapter 15 – Genomes and Genomics
a.
CAAT
b.
UAAG
c.
CTTT
d.
ACAT
e.
TAAC
a
Bloom’s: Remember
15–5: Genomics: Sequencing, Identifying, and Mapping Genes
22. According to data from the Human Genome Project, the number of genes in the human genome is estimated to be
between _____.
a.
20,000 and 25,000
b.
50,000 and 75,000
c.
150,000 and 200,000
d.
5,000 and 10,000
e.
80,000 and 100,000
a
Bloom’s: Remember
15–6: What Have We Learned So Far About the Human Genome?
Human Genome Project.
23. One finding of the Human Genome Project was that mutations in _____ can cause mutations in distant regions of the
genome, which can result in cancer.
a.
DNA repair genes
b.
promoter regions
c.
introns
d.
SNPs
e.
open reading frames
a
Bloom’s: Understand
15–6: What Have We Learned So Far About the Human Genome?
Human Genome Project.
24. When determining whether a relative is a proper match for organ or tissue donation, three sets of HLA alleles –
inherited together – must match those from the intended recipient. These allele sets are known as _____.
a.
open reading frames
b.
splice sites
c.
copy number variants
d.
haplotypes
e.
disease-associated mutations
Chapter 15 – Genomes and Genomics
d
Bloom’s: Apply
15–6: What Have We Learned So Far About the Human Genome?
25. When Louis Kunkel discovered the gene associated with Duchenne’s Muscular Dystrophy in the 1980s, he then
needed to determine _____.
a.
the MIM number of the gene
b.
whether the gene was linked to blood type
c.
how the mutant gene produces the disease phenotype
d.
whether to use positional cloning to clone the gene
e.
how many copy number variants were present in the gene
c
Bloom’s: Apply
15–7: Using Genomics to Study a Human Genetic Disorder
upon whether the mutant protein has a known or unknown function.
26. There are _____ microbial cells living on and in our bodies compared to the number of our body cells.
a.
ten times more
b.
ten times less
c.
about the same number of
d.
about half as many
e.
100 times more
a
Bloom’s: Remember
15–8: The Human Microbiome is Our Other Genome
of the Human Microbiome Project.
27. Data gained from the Human Microbiome Project could help scientists understand _____.
a.
microbial haplotypes
b.
where microbes are concentrated in the human body
c.
the function of probiotics
d.
why antibiotics disrupt the microbiome
e.
how changes in the microbiome can lead to disease
e
Bloom’s: Understand
15–8: The Human Microbiome is Our Other Genome
of the Human Microbiome Project.
28. The different proteins characteristic of breast cancer subtypes can be used as _____ for proper diagnosis and
treatment.
Chapter 15 – Genomes and Genomics
a.
prebiotics
b.
biomarkers
c.
DNA clones
d.
bioinformatic data
e.
physical maps
b
Bloom’s: Understand
15–9: Proteomics is an Extension of Genomics
cancer as an example, explain their importance in the diagnosis and treatment of human
disease.
29. In 2005, professional basketball player Eddy Curry was traded by the Chicago Bulls to the New York Knicks for
refusing to submit to a DNA test associated with a cardiac condition. If this had occurred after 2008, the ____ may have
protected him from losing his position with the Bulls.
a.
National Organ Transplant Act
b.
HapMap Project
c.
Human Microbiome Project
d.
Genetic Information Nondiscrimination Act
e.
Ethical, Legal, and Social Implications program
d
Bloom’s: Apply
15–10: Ethical Concerns About Human Genomics
Implications (ELSI) program and the Genetics Information Nondiscrimination Act (GINA) in
the protection of an individual’s genetic information.
30. In the case of John Moore, whose excised spleen was used by UCLA researchers to establish patented cells lines and
ultimately commercially valuable products, the California Supreme Court ruled in 1990 that _____.
a.
patients are entitled to property rights over cells or tissues removed from the body and used to develop
commercial products
b.
patients do not have property rights over cells or tissues removed from the body and used to develop
commercial products
c.
human cells and cell lines cannot be patented
d.
organ donors cannot be compensated from the sale of human tissue
e.
recombinant DNA technology is harmful
b
Bloom’s: Understand
15–10: Ethical Concerns About Human Genomics
HUHE.CUMM.16.15-10-2 – Debate the issues raised by advancement of genomics research.
31. Within the Human Genome Project, the program named ____________________ considers how the project affects
individuals and society.
Chapter 15 – Genomes and Genomics
32. Genetic maps are constructed by estimating the distances between linked genes based on the calculation of
____________________.
33. The field of ____________________ investigates similarities and differences in the genomes from different species.
34. The private attempt to sequence the human genome, coordinated by Celera Corporation, used a method called
____________________ cloning.
35. The field of ____________________ develops software to efficiently store, analyze, present and access genomic
sequence date.
36. DNA sequences comprising open reading frames (ORFs) correspond to the coding regions of genes called
____________________.
37. The portion of the genome that encodes proteins is called the ____________________.
38. Genes on the same chromosome are said to show ____________________.
39. A method used to link genetic markers with specific genes on chromosomes is called ____________________.
40. Distances on genetic maps are measured in ____________________ and distances on physical maps are measured in
____________________.
41. A set of SNPs close together on a chromosome is called a(n) ____________________.
42. One goal of the Human Genome Project was to sequence the ____________________ (number of) chromosomes in
the human genome, including all autosomes and the sex chromosomes.
43. According to data from the Human Genome Project, 98.9% of the human genome is composed of
____________________ DNA sequences.
44. Repeating DNA regions of at least 1000 base pairs known as ____________________ can affect gene expression.
45. Diet supplements that promote the growth and metabolic activity of beneficial bacteria are known as
____________________.
46. Individuals suffering from Crohn disease or irritable bowel syndrome may benefit from ____________________.
47. ____________________ molecules are responsible for the phenotype of an organism.
48. The field of ____________________ involves the identification of disease biomarkers and protein targets for drug
development.
49. The ____________________ provides protection from discrimination based on one’s genetic information.
50. Linkage between two genes can be determined by studying inherited traits in multi-generational families; however,
when this data is not available, the probability of linkage is estimated by the ____________________.
Essay
51. How is the field of bioinformatics indispensable for genomic research?
52. Data from the Human Genome Project revealed that humans, considered among the most complex of all organisms,
have fewer genes and less DNA than some “simpler” organisms. Explain how a species can be more complex than
another even though it possesses fewer genes.
53. Explain how breast cancer diagnosis and treatment has benefited from proteomics and genomic analyses.
54. Discuss three issues associated with the Human Genome Project and genetic testing that might have either ethical,
legal, or social implications in the future.
55. Discuss how the advent of recombinant DNA technology improved upon historical genetics research methods and
revolutionized genetic mapping techniques.
56. Discuss how the research on any genetic disorder and the fields of structural genomics and pharmacogenomics rely on
proteomics.
57. Explain why annotation is an important step in genomic sequencing projects, in the context of the percentage of the
human genome composed of coding regions.
58. The genes associated with color blindness and hemophilia are located on the X chromosome. If the recombination
frequency between these genes is 25%, what is the genetic map distance between them? Explain how you arrived at your
answer, and why calculating recombination frequencies are an important step in creating genetic maps.
59. Discuss the relationship between genetic distance and physical distance between two linked genes.
60. Discuss how the Human Microbiome Project will impact our understanding of human disease.