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CYTOGENETICS > CYTOGEN 1ST TRINAL > Flashcards

CYTOGEN 1ST TRINAL Flashcards

1
Q

is the study of inherited traits and
their variation.

A

Genetics

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2
Q

is the transmission of traits and
biological information between generations,
and genetics is the study of how traits are
transmitted

A

Heredity

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3
Q

are the units of heredity. Genes are
biochemical instructions that tell cells, the
basic units of life, how to manufacture certain
proteins

A

Genes

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4
Q
  • the basic units of life
A

Cells

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5
Q

The ______ transmits information in its sequence of four types of building blocks, which function like an alphabet.
A gene consists of this long molecule

A

DNA or deoxyribonucleic acid

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6
Q

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

A

genome

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7
Q

resembles a spiral staircase or double
helix.

A

DNA

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8
Q

are pairs of the four types of
building blocks, or nitrogenous bases: adenine
(A) and thymine (T), which attract each other,
and cytosine (C) and guanine (G).

A

DNA double helix

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9
Q

the four types of building blocks, or nitrogenous bases:

A

adenine
thymine
cytosine
guanine

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10
Q

the chains of the double helix
untwist and separate, and then each half
builds a new partner chain from free DNA
bases.

A

DNA replication

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11
Q

copies the sequence of part of
one strand of a DNA molecule into a related
molecule, messenger ribonucleic acid (RNA).

A

Transcription

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12
Q

, each three RNA bases in a row
attract another type of RNA that functions as a
connector, bringing in a particular amino acid.

A

Translation

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13
Q
  • A change in a gene, can have an
    effect at the whole-person level, such as
    causing a disease.
A

Mutation

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14
Q
  • The human genome has about 20,325
    protein-encoding genes, and these DNA
    sequences comprise it
A

Exome

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15
Q

– The same protein-encoding gene may
vary slightly in DNA base sequence from
person to person.

A

Alleles

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16
Q
  • The DNA sequences of the
    human genome are dispersed among 23
    structures.
A

Chromosomes

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17
Q

A_____________ (non-sex cell) has 23
pairs of chromosomes.

A

human somatic cell

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18
Q

22 of these 23 human somatic cell pairs are

A

autosomes

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19
Q

The autosomes are numbered from 1 to
22, with 1 being the

A

largest.

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20
Q

23rd pair of chromosome is the X and Y
chromosome

A

(Sex Chromosomes

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21
Q
  • Charts display the chromosome
    pairs from largest to smallest.
A

Karyotypes

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22
Q
  • A trait caused predominantly by a
    single gene
A

Mendelian

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23
Q
  • determined by one or
    more genes and environmental factors
A

Multifactorial traits

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24
Q

– Groups of differentiated cells
assemble and interact with each other

A

Tissues

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25
Q
  • Many organs include rare,
    unspecialized stem cells
A

Stem Cells

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26
Q
  • energy & structure (sugars
    and starches)
A

CARBOHYDRATES

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27
Q
  • allele has an effect when present
    in just one copy (on one chromosome)
A

Dominant

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28
Q
  • allele must be present on both
    chromosomes of a pair to be expressed.
A

Recessive

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29
Q
  • depict the members of a family and
    indicate which individuals have particular
    inherited traits.
A

Pedigrees

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30
Q

– compares DNA sequences
among individuals to establish or rule out
identity, relationships, or ancestry.

A

DNA profiling

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31
Q

– means altering a gene
or genome in a way that does not occur in
nature, such as giving a carrot a gene from a
green bean that isn’t part of the carrot
genome.

A

Genetic modification

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32
Q

can replace, remove, or add
specific genes into the cells of any organism.

A

Genome editing,

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33
Q

– determines the order of
the DNA bases of all parts of the genome that
encode proteins—that is, about 20,325 genes.

A

Exome sequencing

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34
Q

o also called body cells
o have two copies of the
genome and are said to be diploid.
o Has 23 PAIRS of chromosomes

A

Somatic cells

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35
Q

– which are sperm and egg cells,
have one copy of the genome and are haploid.

A

Germ cells

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36
Q

Tissue Types

A

connective tissues
epithelial tissue
muscle tissue
nervous tissue

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37
Q

– protect, support, bind to cells, and fill spaces throughout the body

A

Connective Tissue

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38
Q

– protect, secrete, absorb, and excrete

A

Epithelial Tissue

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39
Q

– Cells contract, providing movement.

A

Muscle Tissue

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40
Q

– Neurons transmit
information.

A

Nervous Tissue

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41
Q

4 Major Macromolecules

A

carbohydrates
lipids
proteins
nucleic acid

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42
Q
  • energy & structure
    (sugars and starches)
A

CARBOHYDRATES

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43
Q
  • hormones, insulation, energy
    storage (fats and oils)
A

LIPIDS

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44
Q
  • clotting, bulk of connective
    tissue & enzymes (albumin, amylase)
A

PROTEINS

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45
Q
  • cell characteristics
    (DNA and RNA)
A

NUCLEIC ACIDS

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46
Q

3 Major Domains of Life

A

o Archaea - unicellular
o Bacteria – unicellular
o Eukarya - multicellular

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47
Q

o All organisms are made up of one or
more cells

A

CELL THEORY

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48
Q

Main components of the cell:

A

o Nucleus
o Plasma membrane

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49
Q

 the outermost layer
 separating contents from the
external environment
 selectively permeable
 bilayer of lipoprotein

A

Plasma membrane

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50
Q

 the fluid or matrix content inside
the plasma membrane of a cell
along with the cell organelles

A

Cytoplasm

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51
Q

The most prominent organelle of
most cells.

A

Nucleus -

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52
Q

– a layer that surrounds the
nucleus.

A

Nuclear envelope

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53
Q

– inner face of the
nuclear membrane, provides
mechanical support and holds the
nuclear pores in place.

A

Nuclear lamina

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54
Q

– exit and entrance of the
nucleus

A

Nuclear pore

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55
Q
  • (“little nucleus”). Ribosomes are
    produced.
A

Nucleolus

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56
Q

o the “powerhouse of the cell”
o biochemical process of respiration and
energy production occur

A

Mitochondria

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57
Q

o storage sacs for solid or liquid contents
bounded by a unit membrane
o animals: many = small
o plants: few = large

A

Vacuoles

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58
Q

o large network of membrane bound
tubes and sheets “quality control
center”

A

Endoplasmic Reticulum

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59
Q

o site of protein synthesis
o Studded with ribosomes

A

Rough Endoplasmic Reticulum

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60
Q

o Synthesis of lipids, steroid hormones
and detoxification of harmful products

A

Smooth Endoplasmic Recitulum

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61
Q

o “stack of pancakes” (4-6
interconnected flat membranes)
o responsible for correctly shipping the
proteins produced in the ER
o cisternae = the folds

A

Golgi Apparatus

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62
Q

o active site for protein synthesis
o perform biological protein synthesis
(mRNA translation)

A

Ribosomes

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63
Q

– the release of a substance from a
cell

A

Secretion

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64
Q

o contains digestive enzymes (43)
o functions as the cell’s recycling
compartment
o examples: Macrophages and liver cells
o “bodies that cut”

A

Lysosomes

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65
Q

o rigid outer covering of plant cells
(plants, fungi, and bacteria)
o Mainly composed of cellulose
o Cellulose = plants, chitin = fungi

A

Cell Wall

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66
Q

o found in plant cells only; double layered
containing their own DNA and
ribosomes
o Chloroplasts - containing green
chlorophyll giving green color
o Leucoplasts - white or colorless plastids
(can change)
o Chromoplasts – colored plastids

A

Plastids

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67
Q

o microscopic network of protein
filaments and tubules
o maintains cell shape, anchors
organelles, assists with transport (1)
microfilaments, (2) microtubules (3)
intermediate filaments

A

Cytoskeleton

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68
Q

 (smallest filament)
 cell movement, muscle
contraction, and cell division.
 flexible and relatively strong

A

Microfilaments

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69
Q

 (major component)
 stiff and resist bending forces

A

Microtubules

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70
Q

 helping cells maintain their
shape and integrity.

A

Intermediate Filaments

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71
Q

Vesicle
o membrane-bounded sac
o temporarily stores or transports
substance

A

Vesicle

72
Q

Exosomes
o remove debris, transport immune
system molecules, and provide vast
communication network among cells
o bud from one cell and then travel to,
merge with, and empty their contents
into other cells

A

Exosomes

73
Q

o sacs with single outer membranes
studded with several types of proteins
containing enzymes
o breaks down and detoxifies various
molecules

A

Peroxisome

74
Q

o A enzyme is deficient that normally
breaks down lipids in the cells that
surround the nerve cells (buried in
lipids)
o effects: infant losing skills (sight,
hearing, mobility)
o Even before birth, lysosomes of
affected cells swell
o Death typically within 3 years

A

Tay-Sachs Disease

75
Q

describes the sequence of
activities as a cell prepares for and undergoes
division.

A

Cell cycle –

76
Q

2 major stages of cell division

A

o Interphase
o Mitosis

77
Q

o Division of somatic cells
o Diploid

A

Mitosis

78
Q

o Creation of new sex cells

A

Meiosis

79
Q

– Stage of the cell cycle when a cell
is not dividing
- it is divided into two gap (G1 and G2)
phases and one synthesis (S) phase.

A

Interphase

80
Q

– The long strands of chromosomal
material in replicated chromosomes.

A

Chromatid

81
Q

– The largest constriction in a
chromosome, located at a specific site in each
chromosome type.

A

Centromere

82
Q

– The space between sister chromatids

A

Furrow

83
Q

 A diploid cell will always give rise to a diploid
cell
 Chromosome number remains the same
 The DNA remains identically the same
 Once cell (2N) give rise to two new cells (2N)

A

MITOSIS

84
Q

Cell death

A

Apoptosis –

85
Q
  • During prophase, the first stage of
    mitosis, DNA coils tightly. This coiling shortens
    and thickens the chromosomes, easing their
    separation.
A

Prophase

86
Q

– The stage of mitosis when
chromosomes align along the center of the
cell

A

Metaphase

87
Q

– Stage of mitosis when the
centromeres of replicated chromosomes part.

A

Anaphase

88
Q

the stage of mitosis or meiosis
when daughter cells separate

A

Telophase -

89
Q

A chromosome tip.

A

Telomere –

90
Q

– short arm of the chromosome

A

o P

91
Q

– long arm of the chromosome.

A

o Q

92
Q

Two types of proteins, the _____________
interact inside cells, activating the genes
whose products carry out mitosis

A

cyclins and kinases,

93
Q

o Chemical signals that control the cell
cycle from outside.
o made in a gland and transported in the
bloodstream to another part of the
body, where it exerts a specific effect.

A

Hormones

94
Q

o Sperm and oocytes are, or sex cells.
o Produced in the reproductive system.
o Gametes contribute 23 different
chromosomes, constituting one copy of
the genome, to a fertilized ovum.
o One member of each pair comes from
the person’s mother and one comes
from the father.

A

Gametes -

95
Q
  • where the sperm and oocytes are
    manufactured
A

Gonads

96
Q

– develop 125-meter-long
seminiferous tubules, which one researcher
describes as “a massive tangle of spaghetti.”

A

Sperm Cells

97
Q

– the seminiferous tubules are packed
into paired, oval organs.

A

Testes

98
Q

Ovaries - The female sex cells develop in paired
organs in the abdomen.

A

Ovaries -

99
Q

form from special cells, called
germline cells, in a type of cell division called
meiosis that halves the chromosome number.

A

Gametes

100
Q

– which means that they have
only one of each type of chromosome.
(gametes)

A

Haploid (1n)

101
Q

– with two copies of each
chromosome type. (Somatic Cells)

A

Diploid (2n)

102
Q

o “homologs”
o The chromosome pairs

A

Homologous pairs

103
Q

2 divisions of meiosis

A

o Reduction division (Meiosis I)
o Equational division (Meiosis II)

104
Q

 It reduces the number of
replicated chromosomes from
46 to 23.

A

Reduction division (Meiosis I)

105
Q

 produces four cells from the two
cells formed in the first division
by splitting the replicated
chromosomes.

A

Equational division (Meiosis II)

106
Q

– the formation of sperm
cells, begins in a diploid stem cell called a
spermatogonium.

A

Spermatogenesis

107
Q

 A _______, which is a mere 0.006 centimeter
(0.0023 inch) long, must travel about 18
centimeters (7 inches) to reach an oocyte.

A

sperm

108
Q

Each _______ consists of a tail, body or
midpiece, and a head region.

A

sperm cell

109
Q

– Meiosis in the female (egg
making), begins with a diploid cell, an
oogonium

A

Oogenesis

110
Q

The primary oocyte divides into two cells: a
small cell with very little cytoplasm, called a
first _________

A

polar body

111
Q

o Single-gene diseases such as HD and
cystic fibrosis (CF) affect families in
patterns
o Rules that explain the common
patterns of single-gene transmission,
and are derived from Mendel’s laws.

A

Modes of Inheritance

112
Q

– which means that
it affects both sexes and appears every
generation.

A

Autosomal dominant (HD)

113
Q

– which means that
the disease affects both sexes and can “skip”
generations through carriers, who do not have
symptoms.

A

Autosomal recessive (CF)

114
Q

– Single-gene traits and diseases, also called “Monofactorial.”

A

 “Mendelian”

115
Q

– first derived the two laws of
inheritance that determine how these traits
are transmitted from one generation to the
next.

A

Gregor Mendel

116
Q
  • Heritable feature that varies
    among individuals. (General)
A

Character

117
Q

– Pertains to each variant for a character.
Example: Character is a Color, identifying a
color is the trait.

A

Trait

118
Q

– parents producing an
offspring with the same phenotype. (Same
traits, same phenotype, same visible
appearance from your parents.)

A

True breeding

119
Q

– mating or crossing of two
varities. (inherited either the two or there is a
crossing between two varities.)
Example: white or black, or white + black = gray

A

Hybridization

120
Q

parental generation; true breeding parents

A

P –

121
Q

– First filial generation; offspring of the
parental cross

A

 F1

122
Q

– second filial generation; offspring allow to
pollinate or cross one another

A

F2

123
Q

– genetic composition of an
organism

A

Genotype

124
Q

– the visible information of an
organism contained inside a gene

A

Phenotype

125
Q

specific; fix position

A

Locus –

126
Q

– alternative form of a gene

A

Allele

127
Q

– a nucleotide sequence coding a
polypeptide sequence which makes an
enzyme or structural protein

A

Gene

128
Q

– organism having a pair of
identical allele at a given locus at a given
chromosome

A

Homozygous

129
Q

– organism having two different
alleles at a given locus

A

Heterozygous

130
Q

One trait that masks another

A

Dominant –

131
Q

masked trait

A

Recessive –

132
Q

– Mendel conducted up to
70 hybrid self-crosses for each of the seven
traits. This experiment is called a _____________because it follows one trait and the self-crossed plants are hybrids.

A

Monohybrid cross

133
Q

o Mendel’s idea that element separate in the gametes.
o Mendel’s first law

A

Law of Segregation

134
Q

An individual with two identical
alleles for a gene

A

Homozygous

135
Q
  • An individual with two different
    alleles is ___________—what Mendel called
    “non-true-breeding” or “hybrid.”
A

Heterozygous

136
Q

describes the organism’s alleles

A

Genotype

137
Q

– describes the outward expression
of an allele combination.

A

Phenotype

138
Q

– Is the most common
expression of a particular allele combination in
a population.
o The wild type allele may be recessive or
dominant.

A

Wild type phenotype

139
Q

– Is a variant of a gene’s
expression that arises when the gene
undergoes a change, or mutation

A

Mutant phenotype

140
Q
  • Crossing an individual of unknown
    genotype with a homozygous recessive
    individual
A

Test Cross

141
Q

– represents how genes in
gametes join if they are on different
chromosomes. Experimental crosses yielded
numbers of offspring that approximate these
ratios.

A

Punnet square

142
Q

 Law of independent assortment – states that
for two genes on different chromosomes, the
inheritance of one gene does not influence
the chance of inheriting the other gene. The
two genes are said to “independently assort”
because they are packaged into gametes at
random

A

MENDEL’S SECOND LAW

143
Q

– A genotype (allele
combination) that causes death is, by strict
definition, lethal.

A

Lethal allele combinations

144
Q

– Mendel’s laws can appear not to
operate when one gene masks or otherwise
affects the phenotype of another.

A

Epistasis

145
Q

– Different alleles that are both
expressed in a heterozygote

A

Codominant

146
Q

– the heterozygous
phenotype is intermediate between that of
either homozygote.

A

Incomplete dominance

147
Q

– only one allele is
expressed; the other is not

A

Complete dominance

148
Q

A single-gene disease with many
symptoms, or a gene that controls several
functions or has more than one effect

A

Pleiotropic –

149
Q

– refers to the percentage of
individuals who have a particular genotype
who have the associated phenotype.

A

Penetrance

150
Q

– Mutations in different
genes that produce the same phenotype

A

Genetic Heterogeneity

151
Q

– An environmentally caused trait
that appears to be inherited

A

Phenocopy

152
Q

are the building
blocks of DNA. Each nucleotide consists of
three components: a sugar molecule
(deoxyribose), a phosphate group, and a
nitrogenous base.

A

Nucleotides

153
Q

In DNA, adenine
(A) always pairs with thymine (T), and guanine
(G) always pairs with cytosine (C). This is known
as

A

Complementary Base Pairing:

154
Q

form between the complementary base pairs,
holding the two DNA strands together. Adenine forms two hydrogen bonds with thymine, while guanine forms three hydrogen bonds with cytosine.

A

Hydrogen Bonds

155
Q
  • DNA replication
    is a process where the two strands of the DNA
    double helix unwind and separate. Each
    original strand serves as a template for the
    synthesis of a new complementary strand. This
    process is called semiconservative replication
    because each new DNA double helix conserves
    half of the original DNA.
A

Semiconservative Replication

156
Q

– A replication fork is a site
where DNA is locally opened and resembles a
fork. It’s where the DNA strands separate,
allowing the replication process to occur.

A

Replication Fork

157
Q

is an enzyme that unwinds
the DNA double helix by breaking the hydrogen
bonds between the complementary base pairs.

A

Helicase

158
Q

is an enzyme responsible for synthesizing new DNA strands by adding complementary nucleotides to the template strands during replication.

A

DNA polymerase

159
Q

– During DNA replication, there are two strands being synthesized. The leading strand is synthesized continuously in the 5’ to 3’ direction, while the lagging strand is synthesized in short fragments called Okazaki fragments, which are later joined together.

A

Leading Strand and Lagging Strand

160
Q

is an enzyme that adds a
short RNA primer to the DNA template strands,
providing a starting point for DNA polymerase
to begin synthesis.

A

 Primase

161
Q

is an enzyme that joins the
Okazaki fragments on the lagging strand,
sealing the gaps between them to create a
continuous strand.

A

Ligase

162
Q

– DNA
replication is considered semidiscontinuous
because the leading strand is synthesized
continuously, while the lagging strand is
synthesized in short, discontinuous fragments.

A

Semidiscontinuous Replication

163
Q

o DNA coils around proteins called
_______ forming structures that
resemble beads on a string. A DNA
“bead” is called a nucleosome.

A

Histones

164
Q

– (Mitosis) discovered
Human Chromosomes

A

1882 Walther Flemming

165
Q

– introduced chromosome

A

1888 Von Waldeyer

166
Q

– Spermatogonia (47) and oogonia (48)

A

1912 Hans Von Winiwater

167
Q

1956 – Clinical Cytogenetics

A

1956

168
Q

1977 – ISCN Organization (international
System for Human Cytogenetic Nomenclature)

A

1977

169
Q

– the study of genes,
mutations and phenotypes
o Deals with the arrangement of genes on
the chromosome, methods that
generate mutations and various
patterns of inheritance

A

Classical Genetics

170
Q

o The proponent for inheritance
o Published the basic rules of inheritance
(1886)
o Hypothesized that traits such as pod
color were controlled by genetic
elements
o Predicted that adult organisms have a
diploid state; gametes are in haploid
state
o Formulated 2 general laws of
inheritance:

A

Gregor Mendel

171
Q

– states that if there is presence of
dominant gene or dominant
allele, it will exhibit in the
phenotypic characteristic and
will dominate your recessive
gene.

A

Laws of Dominance

172
Q

– there is a
separation of genes/traits and
you will only receive one, each
from your parents.

A

Laws of segregation

173
Q

– if you inherited a
certain gene, the other
gene/trait inherited will not be
affected because they are
independent from each other.

A

Laws of independent
assortment

174
Q

– chromosome analysis using
karyosome chart, the process is called
“KARYOTYPING”

A

Karyosome

175
Q
A

CYTOGENETICS (3 decks)

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