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Fundamentals of Genetics (lec) > Introduction to Genetics > Flashcards

Introduction to Genetics Flashcards

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1
Q

is the general process by which traits controlled by genes are transmitted through gametes from generation to generation

A

Transmission genetics

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2
Q

explains how genetic information is stored and expressed. This discovery is the foundation of molecular genetics.

A

The Watson–Crick model of DNA structure

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3
Q

a molecular complex found in bacteria that has the potential to revolutionize our ability to
rewrite the DNA sequence of genes from any organism

A

CRISPR-Cas

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4
Q

it represents the ultimate tool in genetic technology

A

CRISPR-Cas

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5
Q

Other systems have been developed aside from the CRISPR-Cas

A

zinc-finger nucleases (ZFNs) & transcription activator-like effector nucleases (TALENs)

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6
Q

CRISPR means

A

(clustered regularly interspersed short palindromic repeats)

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7
Q

How does CRISPR work

A

designates an RNA molecule, which in the laboratory can be synthesized to match any DNA sequence of choice

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8
Q

CRISPR RNA has two ends

A
  1. Recognizes and binds to a matching DNA sequence in the gene of interest
  2. The other binds to a CRISPR-associated
    (Cas) nuclease, or DNA-cutting enzyme
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9
Q

What is the most commonly used Cas nuclease

A

Cas9

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10
Q

CRISPR-Cas systems have already been used to repair mutations in cells derived from individuals with several genetic disorders, including…

A

cystic fibrosis
Huntington disease
beta-thalassemia
sickle cell disease
muscular dystrophy
X-linked retinitis pigmentosa

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11
Q

For example, one research group was able to use this system to spread genes that prevent mosquitoes from carrying the parasite that causes malaria. Other researchers have proposed using CRISPR-Cas9 to engineer laboratory-grown human blood vessels and organs that do not express proteins that cause rejection of transplanted tissues and organs. The method has also been used to create disease-resistant strains of wheat and rice.

A
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12
Q

Between 8000 and 1000 b.c., horses, camels, oxen, and wolves were domesticated, and selective breeding of these species soon followed. Cultivation of many plants, including maize, wheat, rice, and the date palm, began around 5000 b.c. Such evidence documents our ancestors’ successful attempts to manipulate the genetic composition of species

A
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13
Q

The ————————-argued that active “humors” in various parts of the body served as the bearers of hereditary traits

A

The Hippocratic treatise “On the Seed”

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14
Q

He proposed that the male semen contained a “vital heat” with the capacity to produce offspring of the same “form” (i.e., basic structure and capacities) as the parent

He believed that this heat cooked and shaped the menstrual blood produced by the female, which was the “physical substance” that gave rise to an offspring

The embryo developed not because it already contained the parts of an adult in miniature form (as some Hippocratics had thought) but because of the shaping power of the vital heat

A

Aristotle

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15
Q

What is epigenesis?

A

an organism develops from the fertilized egg by a succession of developmental events that eventually transform the egg into an adult

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16
Q

What is the theory of preformation?

A

fertilized egg contains a complete miniature adult, called a homunculus

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17
Q

State the cell theory

A

all organisms are composed of basic structural units called cells, which are derived from pre-existing cells

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18
Q

What is the name of the published work of Charles Darwin

A

The Origin of Species, in 1859

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18
Q

What was the name of the ship boarded by Charles Darwin in his expedition

A

HMS Beagle (1831-1836)

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19
Q

Explain natural selection

A

natural selection is based on the observation that populations tend to contain more offspring than the environment can support, leading to a struggle for survival among individuals. Those individuals with heritable traits that allow them to adapt to their environment are better able to survive and reproduce than those with less adaptive traits.

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20
Q

heredity and development were dependent on genetic information residing in genes contained in chromosomes, which were then contributed to each individual by gametes—the so-called

A

chromosomal theory of inheritance

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21
Q

in most eukaryotes, members of each species have a characteristic number of chromosomes called the…

A

diploid number (2n)

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22
Q

Chromosomes in diploid cells exist in pairs, called…

A

homologous chromosomes

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23
Q

A colorized image of the human male chromosome set. Arranged in this way, the set is called a —–

A

karyotype

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24
Q

states that inherited traits are controlled by genes residing on chromosomes faithfully transmitted through gametes, maintaining genetic continuity from generation to generation.

A

chromosome theory of inheritance

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25
Q

any heritable change in the DNA sequence and are the source of all genetic variation

A

Mutation

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26
Q

defined as alternative forms of a gene

A

Alleles

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27
Q

The set of alleles for a given trait carried by an organism is called the

A

Genotype

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28
Q

By the 1920s, scientists knew that proteins and DNA were the major chemical components of chromosomes

A
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29
Q

Each linear strand of the helix is made up of subunits called

A

nucleotides

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30
Q

In eukaryotic cells, the process leading to protein production begins in the nucleus with

A

Transcription

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31
Q

The synthesis of proteins under the direction of mRNA is called

A

Translation

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32
Q

The information encoded in mRNA (called the ———) consists of a linear series of nucleotide triplets. Each triplet, called a ——-

A

genetic code

codon

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33
Q

There are how many different amino acids commonly found in proteins

A

20

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34
Q

Protein assembly is accomplished with the aid of adapter molecules called

A

transfer RNA (tRNA)

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35
Q

tRNAs recognize the information encoded in the mRNA codons and carry the proper amino acids for construction of the protein during translation

A
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36
Q

They form the largest category of proteins

A

Enzymes

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37
Q

Enzymes serve as biological catalysts, lowering the energy of activation in reactions and allowing cellular metabolism to proceed at body temperature

A
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38
Q

Examples of proteins

A
  1. hemoglobin, the oxygen-binding molecule in red blood cells
  2. insulin, a pancreatic hormone
  3. collagen, a connective tissue molecule
  4. actin and myosin, the contractile muscle proteins
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39
Q

caused by a mutant form of hemoglobin

a mutation in the gene encoding β-globin causes an amino acid substitution in 1 of the 146 amino acids in the protein

a change in codon 6 in mRNA from GAG to GUG, which in turn changes amino acid number 6 in β@globin from glutamic acid to valine

mutant β-globin proteins cause hemoglobin molecules in red blood cells to polymerize when the blood’s oxygen concentration is low, forming long chains of hemoglobin that distort the shape of red blood cells

A

Sickle-cell anemia

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40
Q

recombinant DNA began in the early ——

A

1970s

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41
Q

used by bacteria to cut and inactivate the DNA of invading viruses, could be used to cut any organism’s DNA at specific nucleotide sequences, producing a reproducible set of fragments

A

restriction enzymes

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41
Q

Large amounts of cloned DNA fragments can be isolated from these bacterial host cells. These DNA fragments can be used to isolate genes, to study their organization and expression, and to study their nucleotide sequence and evolution

A
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42
Q

Collections of clones that represent an organism’s genome, defined as the complete haploid DNA content of a specific organism, are called

A

genomic libraries

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43
Q

The use of recombinant DNA technology and other molecular techniques to make products is called

A

biotechnology

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44
Q

What was the name of the Finn Dorset sheep that was cloned in 1996

A

Dolly the sheep (a Finn Dorset sheep)

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45
Q

What was the name of Dolly the sheep’s offspring

A

Bonnie

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46
Q

the Human Genome Project, began in 1990 as an international effort to sequence the human genome.

A
47
Q

(the study of genomes), studies the structure, function, and evolution of genes and genomes

A

Genomics

48
Q

identifies the set of proteins present in a cell under a given set of conditions, and studies their functions and interactions

A

proteomics

49
Q

To store, retrieve, and analyze the massive amount of data generated by genomics and proteomics, a specialized subfield of information technology called

A

Bioinformatics

50
Q

the DNA sequence for a particular gene of interest is known, but the role and function of the gene are typically not well understood

A

reverse genetics

51
Q

Render targeted genes non-functional in a model organism or in cultured cells, allowing scientists to investigate the fundamental question of “what happens if this gene is disrupted?” The ultimate goal of this biotechnology technique is to determine the function of the gene

A

Gene knockout

52
Q

defined as organisms used for the study of basic biological processes

A

model organisms

53
Q

Gradually, geneticists added other species to their collection of model organisms: viruses (such as the ——————————) and microorganisms (the bacterium ————-
and the yeast ——————-)
namatode: —————-

A

T phages and lambda phage
Escherichia coli
Saccharomyces cerevisiae
Caenorhabditis elegans

54
Q

The first generation of model organisms in genetic analysis included..

A

(a) the mouse, Mus musculus and
(b) the fruit fly, Drosophila melanogaster.

55
Q

Sensitive genetics-related issues include

A
  1. prenatal testing
  2. genetic discrimination
  3. ownership of genes
  4. access to and safety of gene therapy
  5. genetic privacy
56
Q

This organism was chosen as a model system to study the development and function of the nervous system because its nervous system contains only a few hundred cells and the developmental fate of these and all other cells in the body has been mapped out

also used to study diabetes

A

nematode Caenorhabditis elegans

57
Q

a far-reaching methodology used in molecular genetics, allows genes from one organism to be spliced into vectors and cloned, producing many copies of specific DNA sequences

A

Recombinant DNA technology

58
Q

One example of genomics

A

The Human Genome Project

59
Q

In this approach geneticists relied on the use of naturally occurring mutations or intentionally induced mutations (using chemicals, X-rays or UV light as examples) to cause altered phenotypes in model organisms, and then worked through the lab intensive and time-consuming process of identifying the genes that caused these new phenotypes

A

classical or forward genetics

60
Q

This organism has become a model organism for the study of many aspects of plant biology

A

Arabidopsis thaliana, a small plant with a short life cycle

61
Q

This organism is used to study vertebrate development: it is small, it reproduces rapidly, and its egg, embryo, and larvae are all transparent.

also used in studying cardiovascular diseases

A

zebrafish, Danio rerio

62
Q

Model organism used to study colon cancer and other cancers

A

Escherichia coli

63
Q

Model organism used to study cancer and Werner syndrome

A

S. cerevisiae

64
Q

Model organism used to study disorders of the nervous system and cancer

A

Drosophila melanogaster

65
Q

Model organism for studying Lesch-Nyhan disease, cystic fibrosis, fragile-X syndrome, and many other diseases

A

Mus musculus

66
Q

a hereditary growth disorder that results in curved bones, short limbs, and hand deformities

A

diastrophic dysplasia

67
Q

diastrophic dysplasia is a disorder due to a defect in chromosome number

other genetic disorders encoded in this chromosome are the following:
~ Laron dwarf
~ Susceptibility to diphtheria
~ Limb-girdle dystrophy
~ Low-tone deafness

A

Chromosome #5

68
Q

Carolus Linnaeus believed that animal and plant groups remain unchanged in form from the moment of their appearance on earth

A

Fixity of Species

69
Q

This states that all cells of an organisms release gemmules found in the different parts of the body and travels to the reproductive organs where it is transferred to the gametes:

  • physical units representing each body part that were gathered by the blood into the semen
A

Pangenesis

70
Q

According to this theory, germ-line tissue in the reproductive organs contain a complete set of genetic information that is transmitted directly to the gametes

A

Germ-plasm theory

71
Q

The proposed ancestor of giraffes has characteristics of modern-day…

A

Okapi

72
Q

What is the center of heredity in eukaryotic organisms, prokaryotic organisms, and viruses

A

Eukaryotic organisms = nucleus
Prokaryotic organisms = nucleoid region
Viruses = protein coat (viral head or
capsid)

73
Q

histones found in between nucleosomes

A

H1 histone (together with spacer DNA

74
Q

Subunit of DNA

A

Nucleotide

75
Q

Characteristics of a genetic material

A
  1. Stable * does not easily denature
  2. Replicable * sequence can be copied
  3. Translatable * sequence can be converted into a different language
  4. Mutable * can be changed to yield variations
76
Q

informational storage unit capable of undergoing replication, mutation, and expression

A

Gene

77
Q
  • heritable units that are passed on from parent to offspring
A

Genes

78
Q

Describe a eukaryotic chromosome

A
  • Many chromosomes composed of linear DNA molecules intimately associated with proteins
79
Q

How can chromosomes be visualized?

A

Electron microscope (viruses)
Light microscope (eukaryotes)
* Mitosis
* meiosis

80
Q

When an organism has more than 2 sets of chromosomes, they are called

A

Polyploid

81
Q
  • What are the sources of genetic variation?
A

Chromosomal Mutations (chromosome segments)
Gene Mutations (in nucleotides)

82
Q

• Are there exceptions where proteins are not the end product of a gene?

A

mRNA
tRNA

RNA is sometimes the end product of stored genetic information

83
Q

• Why are proteins so important to living organisms that they serve as the end product of the vast majority of genes?

A

Serve as highly specific biological catalysts or enzymes

Perform non-enzymatic roles

84
Q

• What are the other protein products which are critical components of cells and organisms?

A
  1. Hemoglobin • oxygen-binding pigment in red blood cells
  2. Insulin • pancreatic hormone
  3. Collagen • the connective tissue
    molecule
  4. Keratin • the structural molecule in hair
  5. Histones • Proteins integral to chromosome structure in eukaryotes
  6. Actin and myosin • the contractile muscle proteins
  7. Immunoglobulins • the antibody molecules of the immune system
85
Q

Genetics can be subdivided into 3 interrelated fields

A
  1. Transmission genetics
  2. Molecular genetics
  3. Population genetics
86
Q

Patterns of inheritance are determined through planned breeding experiments

A

Transmission genetics

87
Q

Study of the cellular or physical basis of heredity (chromosomes)

A

Cytogenetics

88
Q

Characterization of the chemical nature of the genetic materials (DNA and RNA) as well as the mode by which they bring about the traits they control

A

Molecular genetics

89
Q

Describes the behavior of genes in large groups of individuals with passage of time

A

Population genetics

90
Q

Methods of studying genetics

A
  1. Planned experimental breeding
  2. Pedigree analysis
  3. Statistical analysis
  4. Twin study
  5. Karyotyping
  6. DNA testing/profiling
91
Q

• Mating of individuals exhibiting contrasting expressions of a given trait and observe their offspring through several generations

A

Planned experimental breeding

92
Q

CHARACTERISTICS OF A GOOD TEST ORGANISM FOR GENETIC STUDY

A
  1. Observable traits → highly variable
  2. Sexual reproduction or recombination is present
  3. Controlled mating not within bounds of ethical concerns
  4. Short generation time
  5. Produces large number of offspring
  6. Easy to handle/maintain
93
Q

With diagrams showing the ancestral relationships and transmission of genetic traits over several generations

A

Pedigree analysis

94
Q

Used mostly in tandem with planned experimental breeding

Tests for significant difference in variations

A

Statistical testing

95
Q

Determines which plays a more significant role in the expression of a trait: heredity or environment

Uses identical twins that are separated from birth

A

Twin study

96
Q

Metaphase chromosomes of an organism is arranged according to size and centromere location

Can detect chromosomal aberrations

A

Karyotyping

97
Q

Detects differences at the molecular level (DNA/RNA or protein)

A

DNA testing/profiling

98
Q

Relies on the use of naturally occurring mutations

Intentionally induced mutations (chemicals, x-rays, UV light) to cause altered phenotypes in model organisms

Lab-intensive and time consuming process of identifying genes that caused new phenotypes

A

MODERN APPROACH: CLASSICAL GENETICS

99
Q

DNA sequence of gene of interest is known but not well understood

Gene knockout render targeted genes nonfunctional in a model organism or cultured cells, to investigate and answer “what happens if gene is disrupted?”

A

MODERN APPROACH: REVERSE GENETICS

100
Q

Forward vs. Reverse genetics

A

Forward genetics
Known phenotype > discover gene underlying phenotype

Reverse genetics
Known genes > discover phenotype resulting from alteration (gene silencing, gene targeting, TILLING)

101
Q

Tests that can be done under genomics

A
  1. Genetic paternity test
  2. Genetic compatibility test
  3. Genetic ancestry test
  4. Genetic fingerprinting
  5. Genetic disease risk
102
Q

Apply genetic knowledge for the improvement of human existence

A

Eugenics

103
Q

• Encourage parents displaying favorable characteristics to have large families
• Superior intelligence, intellectual achievement, artistic talent

A

Positive eugenics

104
Q

• Restrict reproduction of parents displaying unfavorable characteristics
• Low intelligence, mental retardation, criminal behavior

A

Negative eugenics

105
Q

• Medical and/or genetic intervention designed to reduce the impact of defective genotypes on individuals
• Insulin by diabetics, dietary control of newborn phenylketonurics

A

Euphenics

106
Q

• study of the improvement of human functioning and well-being by improvement of living conditions.
• altering external factors such as education and the controllable environment, including the prevention and removal of contagious disease and parasites, environmentalism, education regarding employment, home economics, sanitation, and housing

A

Euthenics

107
Q

• enzymes that cut viral DNA at specific sites
• could be used to cut any organism’s DNA at specific nucleotide sequences, producing a reproducible set of fragments

A

Restriction enzymes

108
Q

DNA Fragments + DNA Vector = Recombinant DNA

A
109
Q

donor cells removed from mammary gland of an adult Finn Dorset ewe

Donor cells starved

Fused with an egg cell with its nucleus removed

Fertilization and development of Dolly the sheep

A
110
Q

1988 a strain of mice modified by recombinant DNA technology to be susceptible to cancer was patented for the first time

A

Created for studying cancer development and anticancer drugs

111
Q

GENETIC ADVANCES IN AGRICULTURE

Improvements in Plants

A
  1. Enhanced potential for more vigorous growth and increases yields (hybrid vigor-heterosis)
  2. Increase resistance to natural predators and pests, including insects and disease causing microorganisms
  • Production of hybrids exhibiting a combination of superior traits derived from two different strains or even two different species
  • Tangelo (tangerine + grapefruit/pomelo)
  • Rabbage (radish+cabbage)
  • Selection of genetic variation with desirable qualities
  • increased protein value
  • Increased content of limiting amino acids
  • Smaller plant size, reducing vulnerability to adverse weather conditions
112
Q

Some genetically altered traits in crop plants

A

Herbicide resistance
- corn, soybeans
Insect resistance
- corn, cotton
Virus resistance
- potato, papaya
Nutritional enhancement
- golden rice
Altered oil content
- soybeans, canola
Delayed ripening
- tomato

113
Q

GENETIC ADVANCES IN AGRICULTURE

Improvements in Animals

A
  • Development of superior breeds in livestock
    Chickens
  • Grow faster
  • Produce more high-quality meat
  • Lay greater number of egg
    Larger animals (pig and cow)
  • Artificial insemination
114
Q

GENETIC ADVANCES IN MEDICINE

A
  1. Genetic basis of disorders are documented
  2. Advances in cancer research
    * Effective early detection and more effective approaches to treatment
  3. Genetic Counseling
    * Provides couples with objective information on which they can base rational decisions about child-bearing
  4. Immunogenetics
    * Compatible blood transfusions and organ transplants
115
Q
  • Genetic disorders are treated by inserting normal copies of genes into cells of afflicted individuals
A

Gene therapy

116
Q
  • The entire genetic complement (genome) of several species is being sequenced
A

Human Genome Project

117
Q

Gene therapy procedure:

A
  1. Cells are removed from the patient
  2. A new or corrected version of a gene is added to the cell, usually with the use of genetically engineered virus
  3. The cells are then grown in a culture and implanted into the patient

Fundamentals of Genetics (lec) (7 decks)

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