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Cytogen > Unit 1 - Introduction > Flashcards

Unit 1 - Introduction Flashcards

1
Q

study of biologically inherited traits

A

Genetics

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2
Q

concerned primarily with understanding biological properties that are transmitted from parent to offspring

A

Genetics

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3
Q

units of heredity

A

Genes

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4
Q

biochemical instructions that tell cells how to manufacture proteins

A

Genes

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5
Q

the complete set of genetic instructions characteristics of an organism, including protein-encoding genes and other DNA sequences

A

Genome

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6
Q

the entire 3.2 billion base sequence of the genetic material in human cell

A

Genome

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7
Q

hundreds to thousands of DNA bases that encode a protein or parts of the protein

A

Single-gene

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8
Q

patterns of single-base variants Single Nucleotide Polymorphism (SNPs) correlated to traits or medical conditions

A

Genome-wide association studies

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9
Q

levels of mRNAs in specific cells under specific conditions that reflect physiology and reveal abnormalities in function

A

Gene expression profiling

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10
Q

study the chemical nature of genes and the ways that genes function to affect certain traits

led to the development of methods that can determine the complete DNA sequence of an organism

A

Genomics

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11
Q

_____________ work is regarded as the beginning of the science of genetics

shows the existence of genes as well as illuminating the rules governing their transmission from generation to generation

A

Gregor Johann Mendel

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12
Q

Gregor Mendel originally bred ___________ with ___________ to see how pigments were inherited

A

Albino mice; pigmented mice

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13
Q

Because the ______ of the animals could no longer be contained, and due to the __________________ of monks, Mendel had to let go of the mice

A

Smell; Celibate Lifestyle

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14
Q

Mendel started working on _______________________ in 1850s

A

Common Pea Plants

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15
Q

He came up with two main ideas:

A

Law of Segregation and Law of Independent assortment

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16
Q

What is the third law of Mendel?

A

Law of Dominance

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17
Q

All biology is now gene-centered

Genetics can help explain why some people are more prone to certain disease compared to others

Help researchers develop new technologies that can be used to treat disease

A

Importance of Genetics

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18
Q

Knowledge in genetics can even help identify the parents of children and identify the identities of criminals or victims of crimes

Genetics can help healthcare professionals identify genetic conditions found in newborns or even before infants are delivered

A

Importance of Genetics

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19
Q

numerous drugs and food additives are synthesized by fungi and bacteria that have been genetically manipulated

Biotechnology industry employs molecular genetic techniques to develop and mass-produce substances of commercial value

A

HEALTHCARE

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20
Q

Risk can be predicted for family members

Predictive (pre-symptomatic) testing may be possible

A

Single-gene disease

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21
Q

Different populations may have different characteristic disease frequencies

Correction of the underlying genetic abnormality may be possible

A

Single-gene disease

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22
Q

Direct alteration of genes to treat human diseases

A

Gene Therapy

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23
Q

Greatest gene therapy successes to date are the treatment of ___________________________________

A

Severe Combined Immunodeficiency Syndrome (SCID)

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24
Q

SCID is caused by the abnormal gene ___________

A

IL2RG gene (Interleukin 2 Receptor Subunit Gamma)

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25
Q

___________ complete loss of immune system function

A

15% - 20%

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26
Q

complete loss of the individual’s immune system due to the absence of the functional enzyme _____________________________

A

ADA (Adenine deaminase)

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27
Q

was the first person with this rare condition to be treated by gene therapy

A

Ashanti Desilva

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28
Q

chemical substances produced by microorganism that are genetically
manipulated, with the capacity to inhibit or kill
other microorganisms.

A

Antibiotics

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29
Q

inhibit growth of microorganisms

A

Bacteriostatic

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30
Q

kill microorganisms

A

bactericidal

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31
Q

Bacillus subtilis (antibiotics)

A

Bacitracin

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32
Q

Bacillus polymyxa (antibiotics)

A

Polymyxin

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33
Q

Cephalosporium (antibiotics)

A

Cephalosporins

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34
Q

Micromonospora purpurea (antibiotics)

A

Gentamicin

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35
Q

Penicillium notatum (antibiotics)

A

Penicillin

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36
Q

Streptomyces erythraeus (antibiotics)

A

Erythromycin

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37
Q

Streptomyces fradiae (antibiotics)

A

Neomycin

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38
Q
A
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39
Q

Streptomyces nodosus (antibiotics)

A

Amphotericin B

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40
Q

Streptomyces noursei (antibiotics)

A

Nystatin

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41
Q

Streptomyces venezuelae (antibiotics)

A

Chloramphenicol

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42
Q

organisms altered to have new genes or to over or under express their own genes

A

Genetically Modified Organisms (GMO)

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43
Q

also known as Transmission Genetics

A

Classical Genetics

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44
Q

basic principles of heredity and how traits are passed from one generation to the next

relation between chromosomes and heredity, the arrangement of genes on chromosomes, and gene mapping

focuses on INDIVIDUAL ORGANISMS

A

Classical Genetics

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45
Q

Gregor Mendel published the basic rules of inheritance in _____

A

1886

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46
Q

Reason why Mendel choose Pea Plant (Pisum Sativum) as breeding experiments

A

easy to cultivate
grow rapidly
produce many offspring
he has as monastery garden

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47
Q

can confer different characteristics to the organism

A

Alternative forms of genes (alleles)

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48
Q

______________ refers to the combination of alleles that it contain and _______________ is the characteristics it exhibits

A

Genotype; Phenotype

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49
Q

predicted that adult organisms have two copies of each gene

A

Gregor Johann Mendel

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50
Q

_________ receive just one of the copies

A

Gametes

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51
Q

two alleles separate randomly from each other during gamete formation

A

Law of Segragation

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52
Q

the alleles of different genes sort independently of each other into gametes

A

Law of Independent Assortment

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53
Q

pictorial representation of related individuals and the phenotype that each individual exhibits

by examining the _______, it is possible to deduce the pattern of inheritance, such as either a dominant or recessive phenotype or

A

Pedigree

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54
Q

representation of all the chromosomes in an individual

A

Karyotype

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55
Q

picture of the chromosomes

arranged according to size

A

Karyogram

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56
Q

Centromeres: Middle (C1 and C3)

A

Metacentric

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57
Q

Centromeres: Close to one end (C4 and C5)

A

Submetacentric

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58
Q

Centromeres: Near to one end (C13, C14, C15)

A

Acrocentric

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59
Q

Centromeres: Not in humans

A

Telocentric

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60
Q

chemical nature of gene itself: how genetic information is encoded, replicated, and expressed

focus in molecular genetics in the GENE, its STRUCTURE, ORGANIZATION, and FUNCTION

A

Molecular Genetics

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61
Q

processes that control the expression of genetic material

A

Gene Regulation

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62
Q

genetic material for all cellular organisms

a double-helical molecule shaped like a twisted ladder

A

DNA (Deoxyribonucleic Acid)

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63
Q

nitrogen bases of DNA

A

Adenine, Thymine, Cytosine, Guanine

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64
Q

the sequence of the bases on one strand dictates the sequence on the second strand through a relationship called _____________

A

complementarity

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65
Q

during _______________, that information in DNA is transcribed to RNA, a different form of nucleic acid, which takes part in protein synthesis

A

gene expression

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66
Q

it contains the sugar ribose I place of deoxyribose

it has the base Uracil rather than Thymine

It is usually single stranded

A

RNA (Ribonucleic Acid)

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67
Q

RNA is transcribed from DNA by the enzyme _____________

A

RNA polymerase

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68
Q

contains the information that will be translated into a protein’s amino acid

A

Messenger RNA (mRNA)

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69
Q

forms a complex with several proteins to form the ribosome, which is where mRNA nucleotide sequences are translated into amino acid sequences

A

Ribosomal RNA (rRNA)

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70
Q

Attached to a specific amino acid, and the complementarity between the codon and the anticodon sequences ensures that the correct amino acid enters the ribosome

A

Transfer RNA (tRNA)

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71
Q

describes the flow of genetic information

state that DNA is transcribes to mRNA, which is then translated into protein.

A

Central Dogma

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72
Q

genetic composition of groups of individual members of the same species and how that composition changes geographically and with the passage of time

A

Population Genetics

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73
Q

described evolution as the result of natural selection

A

Charles Darwin

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74
Q

the marriage of Darwinian theory and population genetics has been termed _________

A

Neo-Darwinism

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75
Q

Godfrey Hardy and Wilhelm Weinberg

a simple genetic equilibrium occurs in a population if the population is large, has random mating, and has negligible effects of mutation, migration, and natural selection

A

Hardy-Weinberg Equilibrium

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76
Q

Important feature of a good model organism are that it:

A
  1. Has a short generation time to reach sexual maturity
  2. Produces a large number of offspring
  3. Can be easily and inexpensively grown in small spaces in laboratory
  4. Exhibits interesting features
  5. Has a genome that has been entirely sequenced
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77
Q

most common causative agent of UTI

2nd most common causative agent of neonatal meningitis

A

Escherichia coli

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78
Q

has a generation time of only ________ and only a small amount of genetic material

the sequence of the E. coli genome was completed in ______

A

20 minutes; 1997

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79
Q

Types of E. coli

A

EPEC - Enteropathogenic E. coli
ETEC - Enterotoxigenic E. coli
EHEC - Enterohemorrhagic E. coli
EIEC - Enteroinvasive E. coli
UPEC - Uropathogenic E. coli

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80
Q

it is microscopic and easy to manipulate like bacteria, but it is a eukaryote

found in a haploid state, which means that it contains one copy of each of its 16 different chromosomes

A

Saccharomyces cerevisiae

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81
Q

the sequencing of S. cerevisiae genome itself was completed in _______

A

1996

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82
Q

it was not until 2000 that the sequence of the _______________ was completed

the chromosome in the larval salivary gland is very large and stain highly reproducible manner to give a consistent pattern of bands

A

Drosophila melanogaster

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83
Q

It is transparent, which permitted the observation of internal cell movements and organ development under a microscope

It exists as two genders, male, hermaphrodite which contains both male and female sexual organs

It has a small size and rapid generation time.

A

Caenorhabditis elegans

84
Q

C. elegans genome turned out to be approximately half the size of the Drosophila genome. Sequencing of its genome was completed in ______

A

1998

85
Q

Its small size and 6-week life cycle make it suitable for genetic experiments in the laboratory. The sequencing of its genome was completed in 2000

A

Arabidopsis thaliana

86
Q

The Arabidopsis genome is approximately _____ of the size of the maize genome and ____ of the wheat genome

A

5% ; 1%

87
Q

The sequence of the ______________ was completed in 2002, and it appears to have the same relative number of genes as the human genome

A

Mus musculus

88
Q

Produce large numbers of progeny

The embryos are transparent, which makes it possible to view the development of internal organs using a microscope.

A

Danio rerio

89
Q

zebrafish

A

Danio rerio

90
Q

mouse

A

Mus musculus

91
Q

fruitfly

A

Drosophila melanogaster

92
Q

thale cress

A

Arabidopsis thaliana

93
Q

nematode

A

Caenorhabditis elegans

94
Q

budding yeast

A

Saccharomyces cerevisiae

95
Q

colon bacillus

A

Escherichia coli

96
Q

fragment of DNA

Biochemical instructions that tell cells how to manufacture proteins

A

Genes

97
Q

Units of heredity, from Latin “____” meaning heir

A

heres

98
Q

Nuclear fragment of DNA

Nuclear DNA + mitochondrial DNA

A

Genome

99
Q

The complete set of genetic instructions characteristic of an organism, including protein-encoding genes and other DNA sequence

A

Genome

100
Q

Scientific study of heredity and hereditary

Classical/transmission, molecular, population

A

Genetics

101
Q

Study of inheritance in all of its manifestations, from the distribution of human traits in a family pedigree to the biochemistry of the genetic material in our chromosomes

A

Genetics

102
Q

Study of the chemical nature of the genes and ways genes function to affect certain traits

We can compare the genetic make up form one to another

A

Genomics

103
Q

Believed that semen was composed of “humors” that are the hereditary traits of an individual

These humors (blood, phlegm, black bile, yellow bile) were then combined to produce the newborn infant

A

Hippocratic School of Medicine

104
Q

Attribute many traits to the father and suggest that differences between siblings can be accounted for by effects of from the mother

A

Hindu Sacred Writings

105
Q

The Jewish book of religious laws based on oral traditions presents an uncannily accurate understanding of the inheritance of hemophilia (a disorder on coagulation factors 8,9,11,5)

A

Talmud

106
Q

first carrier of Hemophilia

A

Queen Victoria

107
Q

Gene therapy on pangenesis

Conducted dissections of animals and proposed that the brain was not only the principal site of perception, but also the origin of semen

A

Alcmaeon

108
Q

Proposed that specific particles, called gemmules, carry information from various parts of the body to the reproductive organs, from where they are passed to the embryo at the moment of conception

A

Pangenesis

109
Q

Pangenesis was then rejected because of _________________ by August Weismann

A

Germplasm theory

110
Q

Traits acquired during one’s lifetime become incorporated into one’s hereditary information and are passed on to the offspring

A

Inheritance of Acquired Characteristics

111
Q

Rejected the concepts of both pangenesis and the inheritance of acquired characteristics

Believe that both males and females made contributions to the offspring

A

Aristotle

112
Q

Inside the egg or sperm existed a tiny miniature adult, homunculus, which development simply enlarged during development

All traits were inherited from only one parent

A

Preformationism

113
Q

Theory of Epigenesis by ________

This theory states that substances in the gametes would produce the adult structure, rather than the growth of miniature adult structures that are already present in the gametes.

A

William Harvey

114
Q

Major technical discovery that paved way for our current understanding of genetics

A

Development of Light Microscopy

115
Q

3 Major Systems of Microscope:

A

1.Lens System – ocular lens, objective lens, fine & course adjustment knobs
2. Illuminating System – light source, iris diaphragm, condenser, and rheostat
3. Body System – base, body tube, and revolving nosepiece

116
Q

4x Magnifications

A

Scanning

117
Q

10x Magnifications

A

Low Power Objective

118
Q

40x Magnifications

A

High Power Objective

119
Q

100x Magnifications

A

Oil Immersion Objective

120
Q

Coined the term cell to describe the

Structures that he observed in cork under a light microscopy

A

Robert Hooke

121
Q

Have true nucleus

Have membrane-bound
organelles

A

Eukaryotic Cell

122
Q

No true nucleus

No membrane-bound organelles

A

Prokaryotic cell

123
Q

Prokaryotic Cell wall contains
____________________

A

complex polysaccharide

124
Q

Eukaryotic cell walls, when
present, are _________________

A

chemically simple

125
Q

Prokaryotic cell is divided by _____________

*DNA copies, and then the cell splits into two copies.

A

binary fission

126
Q

Eukaryotic cell division involves __________

The chromosomes replicate and an identical set is distributed into each nuclei

A

Mitosis

127
Q

substance forming cell walls; determines if the bacteria is gram positive or gram negative

A

Peptidoglycan

128
Q

thick peptidoglycan

A

Gram-positive bacteria

129
Q

thin peptidoglycan

A

Gram-negative bacteria

130
Q

Gram stain - Crystal violet (primary stain)

A

+ (Purple) ; - (Purple)

131
Q

Gram stain - Gram’s iodine (mordant)

A

+ (Purple) ; - (Purple)

132
Q

Gram stain - Ethyl alcohol (decolorizer)

A

+ (Purple) ; - (Colorless)

133
Q

Gram stain - Safranin (secondary stain)

A

+ (Purple) ; - (Pink)

134
Q

Produced lenses that generated magnifications of several hundred power

Discovered living organisms (protozoa and bacteria) in rainwater

Father of microbiology

A

Anton van Leeuwenhoek

135
Q

Protozoa are eukaryotes because they belong in ____________.

A

parasites

136
Q

Classes of parasites

A
  • Protozoa
  • Nematoda
  • Platyhelminthes
  • Arthropoda
137
Q

Reported that plants reproduce sexually by using pollen from the male sex cells

A

Nehemiah Grew

138
Q

carried out numerous crosses and studied pollen under the microscope

A

Joseph Gottleib Kolreuter

139
Q

went on to discover the basic principles of heredity

A

Gregor Mendel

140
Q

fragment in prometaphase

A

Core envelope

141
Q

disappears in prometaphase, and reappears during cytokinesis

A

Nucleolus

142
Q

discovered the cell nucleus in 1883

A

Robert Brown

143
Q

proposed the concept of cell theory

A

Mathias Jacob Schleiden and Theodore Schwann

144
Q

Cell Theory

A

✓ All life is composed of cells.
✓ Cells arise from pre-existing cells (Rudolf Virchow).
✓ The cell is the fundamental unit of structure and function in living organisms.

145
Q

published On the Origin of Species

recognized that heredity was fundamental to evolution, and he conducted extensive genetic crosses with pigeons and other organisms

A

Charles Darwin

146
Q

On the Origin of species published on ______

A

1859

147
Q

This theory holds that the cells in the reproductive organs carry a complete set of genetic information that is passed to gametes

A

Germ-Plasm Theory

148
Q

Proposed Germ-Plasm Theory

A

August Weismann

149
Q

Austrian monk, performed his classical hybridization experiments with pea plants (because they produce many offspring)

A

Gregor Johann Mendel

150
Q

He described the statistical patterns of heritable phenotypes and proposed the theory that factors the germ cells accounted for the underlying basis of inheritance

A

Gregor Johann Mendel

151
Q

Described the fusion of the sperm and egg to form the zygote

A

Oscar Harvey

152
Q

An Austrian cytologist and professor of anatomy who published the first illustration of human chromosomes in 1882

Also referred to the stainable portion f nucleus as chromatin and first used the term mitosis

A

Walther Flemming

153
Q

introduced the word chromosome, from the Greek words for “colored body,” and several prominent scientists of the day began to formulate the idea that determinants of heredity were carried on chromosomes

A

Heinrich Waldeyer

154
Q

hypothesized that chromosomes are individual structures with continuity from one generation to the next despite their “disappearance” between cell divisions

A

Theodor Boveri, Carl Rabl, Edouard van
Beneded

155
Q

Described the process of meiosis in detail

A

Theodore Schwann

156
Q

predicted the occurrence of a reductional stage of cell division

A

August Weismann

157
Q

2 types of chromatins

A
  • Heterochromatin
  • Euchromatin
158
Q

inactive/dense chromatin

A

Heterochromatin

159
Q

active/loose chromatin

A

Euchromatin

160
Q

division of somatic/non sex cells

A

Mitosis

161
Q

division of sex cells

A

Meiosis

162
Q

proposed in 1902 that genes are located on chromosomes

formally developed a “theory of inheritance”

combined the disciplines of cytology and genetics when he referred to the study of chromosomes as cytogenetics

A

Walter Sutton

163
Q

Stated that chromosomes are linear arrays of genes that contained the genetic information required by living organism

A

theory of inheritance

164
Q

discovered first genetic mutant of fruit flies and used fruit flies to unravel many details of transmission genetics

A

Thomas Hunt Morgan

165
Q

Thomas Hunt Morgan investigated sex determination in mealworms, with ________________, publishing their findings about the X and Y chromosomes in 1905

A

Maria Steven

166
Q

developed the algebraic foundations for our understanding of the process of evolution

laid the foundation for population genetics in 1930s

A

Ronal Fisher, Sewall Wright, and John Haldane

167
Q

first coined the term F1, F2, homozygote, heterozygote, and allelomorph in 1902

A

William Bateson

168
Q

introduced the terms phenotype, genotype, and gene in 1909

A

Wilhelm Johannsen

169
Q

formulated the term karyotype to refer to the
ordered arrangement of chromosomes

A

Levitsky

170
Q

showed conclusively that DNA was the genetic material

A

Oswald Avery, Alfred Hershey, and Martha Chase

171
Q

described the three-dimensional structure of DNA in 1953, ushering the area of molecular genetics

used XC-ray diffraction data collected by Rosalind Franklin and Maurice Wilkins

A

James Watson and Francis Crick

172
Q

studied the chromosomes of fibroblast cultures from patients with Down syndrome

Reported that infants with the Cri-du-chat syndrome
(“cat-cry”)

A

Jerome Lejeune

173
Q

the trisomy was reported to involve one of the
smallest pairs of chromosomes and would
eventually be referred to as trisomy 21

A

Down Syndrome

174
Q

Cri-du-chat syndrome is also known as

A

5𝑝−

175
Q

deficiency of one X chromosome; females;
single X; 45 chromosomes

A

Turner Syndrome

176
Q

excessive X chromosome; males; XXY; 47 chromosomes

A

Klinefelter syndrome

177
Q

excessive Y chromosomes; males; XYY; 47 chromosomes

A

Jacobs Syndrome

178
Q

discovered and described restriction endonucleases, the enzymes that opened up the ability to manipulate DNA through recombinant DNA technology

A

Werner Arber, Hamilton Smith, Daniel Nathans

179
Q

first to construct a recombinant DNA molecule containing parts of DNA from different species

A

Paul Berg

180
Q

Observed a small stained body on the periphery of some interphase nuclei, and his records were detailed enough for him to realize that this was present only in the nuclei of female cats.

A

Murray Barr

181
Q

the inactivated X chromosome present in nucleated cells of all normal female mammals but absent in normal males

A

Sex chromatin / X chromatin / Barr body

182
Q

Reported the presence of small chromosome in patients with chronic myelogenous leukemia

This was designated Philadelphia chromosome 1, and it demonstrated, for the first time, an association between chromosomes and cancer

A

Nowell and Hungerford

183
Q

demonstrated that the “Philadelphia chromosome” was actually the result of a translocation involving chromosome 9 and 22

A

Janet Rowley

184
Q

one arm of chromosome 22 is translocated to chromosome 9

A

Philadelphia Chromosome

185
Q

MYELOPROFILERATIVE DISORDERS

A
  • Chronic Myelogenous Leukemia (CML)
  • Myelofibrosis with Myeloid Metaplasia (MMM)
  • Essential Thrombocythemia (ET)
  • Polycythemia Vera (PV)
186
Q

Translocation of C9 to C22 (arm of C22 is translocated to C9)

Stem cell disorder affecting almost all blood cell (granulocytic, monocytic, erythrocytic, and
megakaryocytic)

A

Chronic Myelogenous Leukemia (CML)

187
Q

MYELOPROFILERATIVE DISORDERS caused by JAK2 mutation (Janus Kinase)

A
  • Myelofibrosis with Myeloid Metaplasia (MMM)
  • Essential Thrombocythemia (ET)
  • Polycythemia Vera (PV)
188
Q

Excessive production of RBCs

A

Polycythemia Vera (PV)

189
Q

Developed methods for sequencing DNA in 1977

A

Walter Gilbert and Frederick Sanger

190
Q

developed polymerase chain reaction, a technique for quickly amplifying tiny amounts of DNA

A

Kary Mullis

191
Q

Gene therapy was used for the first time to treat human genetic disease in the United States, and the Human Genome Project was launched

A

1990

192
Q

the first organism to have its complete genome sequenced

Is a gram-negative bacterium also known as Pfeiffer’s bacillus

2nd most common causative agent of otitis media

A

Haemophilus influenzae

193
Q

Needed by haemophilus influenzae for survival:

A

X- Factor (haemin)

V Factor

194
Q

comprises protoporphyrin IX, also called haemin or other iron-containing porphyrins. These are required for growth because X-dependent strains are unable t convert d-aminolaevulinic acid to protoporphyrin. They are heat stable.

A

X Factor

195
Q

comprises nicotinamide adenine dinucleotide (NDA) or nicotinamide adenine dinucleotide phosphate (NADP). They are heat labile.

A

V Factor

196
Q

First transgenic cow

A

Rosie

197
Q

First coned mammal

Cell + Cell → blastocyst → surrogate parent

A

Dolly the sheep

198
Q

one copy of the mutated gene from one parent can cause the mutation

A

Autosomal dominant

199
Q

one copy of the mutated gene from BOTH parents can cause the genetic condition

A

Autosomal recessive

200
Q

mutations on the chromosome; single copy of the mutated gene causes the genetic condition in both males and females

A

X-linked dominant

201
Q

a single mutation in the X chromosomes causes the genetic condition

A

X-Linked recessive

202
Q

Y-Linked

A

carried from father to son ONLY

203
Q

Genes come in multiple forms called

A

alleles

204
Q

Genetic information is carried in

A

DNA and RNA

205
Q

Bacterial cells normally possess ______ chromosome; human cells possess _____; pigeon cells possess _____

A

single; 46; 80

206
Q

heritable changes in genetic information

affect only the genetic information of a single gene

A

Mutations

207
Q

Evolution can be viewed as two-step process: first, genetic variation arises and, second, some genetic variants increase in frequency, whereas other variants decrease

A

Evolution is a genetic change

Cytogen (12 decks)

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