CYTOGEN 1ST TRINAL Flashcards

1
Q

is the study of inherited traits and
their variation.

A

Genetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

Heredity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q
  • the basic units of life
A

Cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

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

A

genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

resembles a spiral staircase or double
helix.

A

DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

the four types of building blocks, or nitrogenous bases:

A

adenine
thymine
cytosine
guanine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

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

A

Transcription

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q
  • A change in a gene, can have an
    effect at the whole-person level, such as
    causing a disease.
A

Mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q
  • The human genome has about 20,325
    protein-encoding genes, and these DNA
    sequences comprise it
A

Exome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

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

A

Alleles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q
  • The DNA sequences of the
    human genome are dispersed among 23
    structures.
A

Chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

human somatic cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

22 of these 23 human somatic cell pairs are

A

autosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

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

A

largest.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

23rd pair of chromosome is the X and Y
chromosome

A

(Sex Chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q
  • Charts display the chromosome
    pairs from largest to smallest.
A

Karyotypes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q
  • A trait caused predominantly by a
    single gene
A

Mendelian

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q
  • determined by one or
    more genes and environmental factors
A

Multifactorial traits

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

– Groups of differentiated cells
assemble and interact with each other

A

Tissues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
- Many organs include rare, unspecialized stem cells
Stem Cells
26
- energy & structure (sugars and starches)
CARBOHYDRATES
27
- allele has an effect when present in just one copy (on one chromosome)
Dominant
28
- allele must be present on both chromosomes of a pair to be expressed.
Recessive
29
- depict the members of a family and indicate which individuals have particular inherited traits.
Pedigrees
30
– compares DNA sequences among individuals to establish or rule out identity, relationships, or ancestry.
DNA profiling
31
– 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.
Genetic modification
32
can replace, remove, or add specific genes into the cells of any organism.
Genome editing,
33
– determines the order of the DNA bases of all parts of the genome that encode proteins—that is, about 20,325 genes.
Exome sequencing
34
o also called body cells o have two copies of the genome and are said to be diploid. o Has 23 PAIRS of chromosomes
Somatic cells
35
– which are sperm and egg cells, have one copy of the genome and are haploid.
Germ cells
36
Tissue Types
connective tissues epithelial tissue muscle tissue nervous tissue
37
– protect, support, bind to cells, and fill spaces throughout the body
Connective Tissue
38
– protect, secrete, absorb, and excrete
Epithelial Tissue
39
– Cells contract, providing movement.
Muscle Tissue
40
– Neurons transmit information.
Nervous Tissue
41
4 Major Macromolecules
carbohydrates lipids proteins nucleic acid
42
- energy & structure (sugars and starches)
CARBOHYDRATES
43
- hormones, insulation, energy storage (fats and oils)
LIPIDS
44
- clotting, bulk of connective tissue & enzymes (albumin, amylase)
PROTEINS
45
- cell characteristics (DNA and RNA)
NUCLEIC ACIDS
46
3 Major Domains of Life
o Archaea - unicellular o Bacteria – unicellular o Eukarya - multicellular
47
o All organisms are made up of one or more cells
CELL THEORY
48
Main components of the cell:
o Nucleus o Plasma membrane
49
 the outermost layer  separating contents from the external environment  selectively permeable  bilayer of lipoprotein
Plasma membrane
50
 the fluid or matrix content inside the plasma membrane of a cell along with the cell organelles
Cytoplasm
51
The most prominent organelle of most cells.
Nucleus -
52
– a layer that surrounds the nucleus.
Nuclear envelope
53
– inner face of the nuclear membrane, provides mechanical support and holds the nuclear pores in place.
Nuclear lamina
54
– exit and entrance of the nucleus
Nuclear pore
55
- (“little nucleus”). Ribosomes are produced.
Nucleolus
56
o the “powerhouse of the cell” o biochemical process of respiration and energy production occur
Mitochondria
57
o storage sacs for solid or liquid contents bounded by a unit membrane o animals: many = small o plants: few = large
Vacuoles
58
o large network of membrane bound tubes and sheets “quality control center”
Endoplasmic Reticulum
59
o site of protein synthesis o Studded with ribosomes
Rough Endoplasmic Reticulum
60
o Synthesis of lipids, steroid hormones and detoxification of harmful products
Smooth Endoplasmic Recitulum
61
o “stack of pancakes” (4-6 interconnected flat membranes) o responsible for correctly shipping the proteins produced in the ER o cisternae = the folds
Golgi Apparatus
62
o active site for protein synthesis o perform biological protein synthesis (mRNA translation)
Ribosomes
63
– the release of a substance from a cell
Secretion
64
o contains digestive enzymes (43) o functions as the cell’s recycling compartment o examples: Macrophages and liver cells o “bodies that cut”
Lysosomes
65
o rigid outer covering of plant cells (plants, fungi, and bacteria) o Mainly composed of cellulose o Cellulose = plants, chitin = fungi
Cell Wall
66
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
Plastids
67
o microscopic network of protein filaments and tubules o maintains cell shape, anchors organelles, assists with transport (1) microfilaments, (2) microtubules (3) intermediate filaments
Cytoskeleton
68
 (smallest filament)  cell movement, muscle contraction, and cell division.  flexible and relatively strong
Microfilaments
69
 (major component)  stiff and resist bending forces
Microtubules
70
 helping cells maintain their shape and integrity.
Intermediate Filaments
71
Vesicle o membrane-bounded sac o temporarily stores or transports substance
Vesicle
72
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
Exosomes
73
o sacs with single outer membranes studded with several types of proteins containing enzymes o breaks down and detoxifies various molecules
Peroxisome
74
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
Tay-Sachs Disease
75
describes the sequence of activities as a cell prepares for and undergoes division.
Cell cycle –
76
2 major stages of cell division
o Interphase o Mitosis
77
o Division of somatic cells o Diploid
Mitosis
78
o Creation of new sex cells
Meiosis
79
– 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.
Interphase
80
– The long strands of chromosomal material in replicated chromosomes.
Chromatid
81
– The largest constriction in a chromosome, located at a specific site in each chromosome type.
Centromere
82
– The space between sister chromatids
Furrow
83
 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)
MITOSIS
84
Cell death
Apoptosis –
85
- During prophase, the first stage of mitosis, DNA coils tightly. This coiling shortens and thickens the chromosomes, easing their separation.
Prophase
86
– The stage of mitosis when chromosomes align along the center of the cell
Metaphase
87
– Stage of mitosis when the centromeres of replicated chromosomes part.
Anaphase
88
the stage of mitosis or meiosis when daughter cells separate
Telophase -
89
A chromosome tip.
Telomere –
90
– short arm of the chromosome
o P
91
– long arm of the chromosome.
o Q
92
Two types of proteins, the _____________ interact inside cells, activating the genes whose products carry out mitosis
cyclins and kinases,
93
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.
Hormones
94
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.
Gametes -
95
- where the sperm and oocytes are manufactured
Gonads
96
– develop 125-meter-long seminiferous tubules, which one researcher describes as “a massive tangle of spaghetti.”
Sperm Cells
97
– the seminiferous tubules are packed into paired, oval organs.
Testes
98
Ovaries - The female sex cells develop in paired organs in the abdomen.
Ovaries -
99
form from special cells, called germline cells, in a type of cell division called meiosis that halves the chromosome number.
Gametes
100
– which means that they have only one of each type of chromosome. (gametes)
Haploid (1n)
101
– with two copies of each chromosome type. (Somatic Cells)
Diploid (2n)
102
o “homologs” o The chromosome pairs
Homologous pairs
103
2 divisions of meiosis
o Reduction division (Meiosis I) o Equational division (Meiosis II)
104
 It reduces the number of replicated chromosomes from 46 to 23.
Reduction division (Meiosis I)
105
 produces four cells from the two cells formed in the first division by splitting the replicated chromosomes.
Equational division (Meiosis II)
106
– the formation of sperm cells, begins in a diploid stem cell called a spermatogonium.
Spermatogenesis
107
 A _______, which is a mere 0.006 centimeter (0.0023 inch) long, must travel about 18 centimeters (7 inches) to reach an oocyte.
sperm
108
Each _______ consists of a tail, body or midpiece, and a head region.
sperm cell
109
– Meiosis in the female (egg making), begins with a diploid cell, an oogonium
Oogenesis
110
The primary oocyte divides into two cells: a small cell with very little cytoplasm, called a first _________
polar body
111
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.
Modes of Inheritance
112
– which means that it affects both sexes and appears every generation.
Autosomal dominant (HD)
113
– which means that the disease affects both sexes and can “skip” generations through carriers, who do not have symptoms.
Autosomal recessive (CF)
114
– Single-gene traits and diseases, also called “Monofactorial.”
 “Mendelian”
115
– first derived the two laws of inheritance that determine how these traits are transmitted from one generation to the next.
Gregor Mendel
116
- Heritable feature that varies among individuals. (General)
Character
117
– Pertains to each variant for a character. Example: Character is a Color, identifying a color is the trait.
Trait
118
– parents producing an offspring with the same phenotype. (Same traits, same phenotype, same visible appearance from your parents.)
True breeding
119
– 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
Hybridization
120
parental generation; true breeding parents
P –
121
– First filial generation; offspring of the parental cross
 F1
122
– second filial generation; offspring allow to pollinate or cross one another
F2
123
– genetic composition of an organism
Genotype
124
– the visible information of an organism contained inside a gene
Phenotype
125
specific; fix position
Locus –
126
– alternative form of a gene
Allele
127
– a nucleotide sequence coding a polypeptide sequence which makes an enzyme or structural protein
Gene
128
– organism having a pair of identical allele at a given locus at a given chromosome
Homozygous
129
– organism having two different alleles at a given locus
Heterozygous
130
One trait that masks another
Dominant –
131
masked trait
Recessive –
132
– 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.
Monohybrid cross
133
o Mendel’s idea that element separate in the gametes. o Mendel’s first law
Law of Segregation
134
An individual with two identical alleles for a gene
Homozygous
135
- An individual with two different alleles is ___________—what Mendel called “non-true-breeding” or “hybrid.”
Heterozygous
136
describes the organism’s alleles
Genotype
137
– describes the outward expression of an allele combination.
Phenotype
138
– Is the most common expression of a particular allele combination in a population. o The wild type allele may be recessive or dominant.
Wild type phenotype
139
– Is a variant of a gene’s expression that arises when the gene undergoes a change, or mutation
Mutant phenotype
140
- Crossing an individual of unknown genotype with a homozygous recessive individual
Test Cross
141
– represents how genes in gametes join if they are on different chromosomes. Experimental crosses yielded numbers of offspring that approximate these ratios.
Punnet square
142
 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
MENDEL’S SECOND LAW
143
– A genotype (allele combination) that causes death is, by strict definition, lethal.
Lethal allele combinations
144
– Mendel’s laws can appear not to operate when one gene masks or otherwise affects the phenotype of another.
Epistasis
145
– Different alleles that are both expressed in a heterozygote
Codominant
146
– the heterozygous phenotype is intermediate between that of either homozygote.
Incomplete dominance
147
– only one allele is expressed; the other is not
Complete dominance
148
A single-gene disease with many symptoms, or a gene that controls several functions or has more than one effect
Pleiotropic –
149
– refers to the percentage of individuals who have a particular genotype who have the associated phenotype.
Penetrance
150
– Mutations in different genes that produce the same phenotype
Genetic Heterogeneity
151
– An environmentally caused trait that appears to be inherited
Phenocopy
152
are the building blocks of DNA. Each nucleotide consists of three components: a sugar molecule (deoxyribose), a phosphate group, and a nitrogenous base.
Nucleotides
153
In DNA, adenine (A) always pairs with thymine (T), and guanine (G) always pairs with cytosine (C). This is known as
Complementary Base Pairing:
154
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.
Hydrogen Bonds
155
- 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.
Semiconservative Replication
156
– 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.
Replication Fork
157
is an enzyme that unwinds the DNA double helix by breaking the hydrogen bonds between the complementary base pairs.
Helicase
158
is an enzyme responsible for synthesizing new DNA strands by adding complementary nucleotides to the template strands during replication.
DNA polymerase
159
– 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.
Leading Strand and Lagging Strand
160
is an enzyme that adds a short RNA primer to the DNA template strands, providing a starting point for DNA polymerase to begin synthesis.
 Primase
161
is an enzyme that joins the Okazaki fragments on the lagging strand, sealing the gaps between them to create a continuous strand.
Ligase
162
– DNA replication is considered semidiscontinuous because the leading strand is synthesized continuously, while the lagging strand is synthesized in short, discontinuous fragments.
Semidiscontinuous Replication
163
o DNA coils around proteins called _______ forming structures that resemble beads on a string. A DNA “bead” is called a nucleosome.
Histones
164
– (Mitosis) discovered Human Chromosomes
1882 Walther Flemming
165
– introduced chromosome
1888 Von Waldeyer
166
– Spermatogonia (47) and oogonia (48)
1912 Hans Von Winiwater
167
1956 – Clinical Cytogenetics
1956
168
1977 – ISCN Organization (international System for Human Cytogenetic Nomenclature)
1977
169
– 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
Classical Genetics
170
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:
Gregor Mendel
171
– 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.
Laws of Dominance
172
– there is a separation of genes/traits and you will only receive one, each from your parents.
Laws of segregation
173
– if you inherited a certain gene, the other gene/trait inherited will not be affected because they are independent from each other.
Laws of independent assortment
174
– chromosome analysis using karyosome chart, the process is called “KARYOTYPING”
Karyosome
175