Worksheetscytogen midterms
Total questions: 102
Worksheet time: 56mins
Combination of methods and findings in Cytology and Genetics.
Investigation of heredity at the cellular level.
(a)
Study of cells as fundamental units of living things.
(a)
Study of hereditary processes such as: inheritance
of traits, distinctive characteristics, & diseases.
(a)
1859 > — published On the
Origin of Species, introducing the theory of
natural selection to explain species diversity.
developed the theory alongside
Alfred Russel Wallace, who reached
similar conclusions independently.
Natural selection, often called “survival of
the fittest”
, suggests that individuals with
favorable traits are more likely to survive,
reproduce, and pass those traits on.
ARISTOTLE
CHARLES DARWIN
CAROLUS LINNAEUS
GREGOR JOHANN MENDEL
Father of Biology
Proposed the concept of “potential”
inheritance; Thought inheritance was
passed through blood
ARISTOTLE
CHARLES DARWIN
CAROLUS LINNAEUS
GREGOR JOHANN MENDEL
Father of Taxonomy
“organism organizer” (sabi ni sir prince)
Developed the first scientific classification
system in the 1700s.
ARISTOTLE
CHARLES DARWIN
CAROLUS LINNAEUS
GREGOR JOHANN MENDEL
Father of Genetics
Discovered fundamental laws of heredity.
1865 > he published his investigations into
the inheritance of pea plants.
His work was not recognized during his
lifetime but became crucial to biology after
being rediscovered in the early 1900s.
ARISTOTLE
CHARLES DARWIN
CAROLUS LINNAEUS
GREGOR JOHANN MENDEL
Mendelian’s Law of Inheritance
Law of
Law of
Law of
INDEPENDENT ASSORTMENT
DOMINANCE
SEGREGATION
DEPENDENT ASSORTMENT
RECESSIVE
Founder of Cytogenetics
German biologist and Anatomy Professor
1882 > he published the first illustrations of
human chromosomes.
Introduced the term “mitosis”
Discovered chromatin - a complex of DNA
and proteins.
stain nucleus (aniline dye) and
found dark staining strands.
EDUARD STRASBURGER
WALTHER FLEMMING
AUGUST WEISMANN
1879 > he led to the theory that cell nucleus
is the bearer of the physical basis heredity.
Cell division in plants
EDUARD STRASBURGER
WALTHER FLEMMING
AUGUST WEISMANN
Founder of the Germ Plasm Theory
Germ Plasm - biological concept that states
that heritable information is transmitted only
by germ cells.
Genetic information is passed from
generation to generation through
these reproductive cells.
EDUARD STRASBURGER
WALTHER FLEMMING
AUGUST WEISMANN
Sperm & Egg cells; 23 chromosomes
SOMATIC CELL
GERM CELL (SEX CELLS)
Body cells; 46 chromosomes (23 pairs)
SOMATIC CELL
GERM CELL (SEX CELLS)
Co-founder of the Chromosome Theory
of Inheritance.
1902 > chromosomes were involved with
inheritance.
First to hypothesize that chromosomal
abnormalities could cause cancer.
HEINRICH WILHELM GOTTFRIED VON
WALDEYER-HARTZ
THEODOR BOVERI
WALTER SUTTON
Co-founder of the Chromosome Theory
of Inheritance.
1903 > he proposed the Chromosome
Theory of Inheritance, independently
supported by Theodor Boveri— now known
as the Boveri-Sutton Theory.
He stated that the Mendelian laws
of Inheritance could be applied to
chromosomes.
Combined the disciplines of cytology and
genetics, coining the term “Cytogenetics”
HEINRICH WILHELM GOTTFRIED VON
WALDEYER-HARTZ
THEODOR BOVERI
WALTER SUTTON
1888 > he introduced the term
“chromosome”
Derived from the Greek words
chroma (color) and soma (body)
HEINRICH WILHELM GOTTFRIED VON
WALDEYER-HARTZ
THEODOR BOVERI
WALTER SUTTON
REDISCOVERY OF MENDEL’S LAWS
1900 > they independently
rediscovered Mendel’s work while studying
plant hybrids.
CLARENCE ERWIN MCCLUNG
GRIGORII LEVITSKY
HUGO DE VRIES
CARL CORRENS
ERICH VON TSCHERMARK
1902 > he proposed that sex determination
was related to some special chromosomes.
CLARENCE ERWIN MCCLUNG
GRIGORII LEVITSKY
HUGO DE VRIES
CARL CORRENS
ERICH VON TSCHERMARK
1924 > he used the term “karyotype”
Describe the complete set of chromosomes
in a cell, including their number, size, and
shape.
Developed techniques for chromosome
preparation and visualization in plants.
CLARENCE ERWIN MCCLUNG
GRIGORII LEVITSKY
HUGO DE VRIES
CARL CORRENS
ERICH VON TSCHERMARK
Double helix shaped molecule
Contains all the genetic materials,
determines the information available for
building and maintaining an organism
DEOXYRIBONUCLEIC ACID
CHROMOSOMES
GENES
ALLELES
TRAIT
Special structure that is found in cells.
Made up of an organized section/strand of
DNA that contains many genes.
Every human body cell has:
23 pairs = 46 chromosomes
DEOXYRIBONUCLEIC ACID
CHROMOSOMES
GENES
ALLELES
TRAIT
Specific characteristic of an organism.
It can be determined by genes or the
environment or more commonly by
interactions between them.
DEOXYRIBONUCLEIC ACID
CHROMOSOMES
GENES
ALLELES
TRAIT
Special segment of DNA that is found on a
chromosome. Codes for a particular protein
that determines a particular trait, feature, or
characteristic.
DEOXYRIBONUCLEIC ACID
CHROMOSOMES
GENES
ALLELES
TRAIT
Different forms of a gene, which produce
variations in a genetically inherited trait.
Dominant allele
Recessive allele
DEOXYRIBONUCLEIC ACID
CHROMOSOMES
GENES
ALLELES
TRAIT
Specific location of a gene for some trait on
a chromosome.
BRCA1 gene = breast cancer
○location: 17q21
○short arm: p arm (petit)
○long arm: q arm (queue)
LOCI/LOCUS
DOMINANT
RECESSIVE
CARRIER
HEREDITY
Allele that dominates over others in
determining phenotype.
LOCI/LOCUS
DOMINANT
RECESSIVE
CARRIER
HEREDITY
Allele whose phenotypic expression is
“hidden” when a dominant allele is present.
LOCI/LOCUS
DOMINANT
RECESSIVE
CARRIER
HEREDITY
Inheritance or biological inheritance.
LOCI/LOCUS
DOMINANT
RECESSIVE
CARRIER
HEREDITY
Individual who is heterozygous for a trait
that only shows up in the phenotype of
those who are homozygous recessive.
LOCI/LOCUS
DOMINANT
RECESSIVE
CARRIER
HEREDITY
A pair of chromosomes that are similar in
length, gene position, centromere location.
Genes may contain different alleles.
HOMOLOGOUS CHROMOSOME
HOMOZYGOUS GENOTYPE
HETEROZYGOUS GENOTYPE
PHENOTYPE
GENOTYPE
Observable expression of that genetic
information as cellular, morphological,
clinical, or biochemical trait.
Physical
What we see
EXTERNAL
HOMOLOGOUS CHROMOSOME
HOMOZYGOUS GENOTYPE
HETEROZYGOUS GENOTYPE
PHENOTYPE
GENOTYPE
Genetic makeup of an organism
Determines phenotype
INTERNAL
HOMOLOGOUS CHROMOSOME
HOMOZYGOUS GENOTYPE
HETEROZYGOUS GENOTYPE
PHENOTYPE
GENOTYPE
When both alleles at a particular gene locus
are the same.
HOMOLOGOUS CHROMOSOME
HOMOZYGOUS GENOTYPE
HETEROZYGOUS GENOTYPE
PHENOTYPE
GENOTYPE
When the two alleles at a particular gene
locus are different.
HOMOLOGOUS CHROMOSOME
HOMOZYGOUS GENOTYPE
HETEROZYGOUS GENOTYPE
PHENOTYPE
GENOTYPE
German cell biologist
1889 - coined the term “nucleic acid”
Replaced Miescher’s original term “nuclein”
Renamed it after discovering that nuclein
exhibited acidic properties
FRIEDRICH MIESCHER
RICHARD ALTMANN
Swiss physiologist
1869 - isolated a new substance from the
nuclei of white blood cells (WBC)
initially called it “nuclein”-
The nuclein exhibited acidic properties
FRIEDRICH MIESCHER
RICHARD ALTMANN
Polymer in which the monomer units are
nucleotides - the building blocks of nucleic
acid (forms DNA)
Made up of nucleotides
(a)
Three-subunit molecule in which a pentose
sugar is bonded to both a phosphate group
mand a nitrogen-containing heterocyclic
base
Building blocks of Nucleic Acid
Has Phosphate
NUCLEOTIDE
NUCLEOSIDE
No Phosphate
A two-subunit molecule in which a pentose sugar is
bonded to a nitrogen containing heterocyclic base
NUCLEOTIDE
NUCLEOSIDE
Subunits
Sugar (Pentose)
Nitrogenous Base
Phospate
Sugar unit of a nucleotide is either the
pentose ribose (with oxygen) or the
pentose 2’
deoxyribose (no oxygen)
2 prime (“) = at the second carbon
PENTOSE SUGARS
PHOSPHATE
Subunits
Sugar (Pentose)
Nitrogenous Base
Phospate
Derived from phosphoric acid
Phosphate residue is attached to pentose
sugar DNA/RNA via phosphodiester link
Acidic, Nucleic acid
All residues in the DNA/RNA carry a
negative charge in physiologic pH
PENTOSE SUGARS
PHOSPHATE
NITROGEN-CONTAINING
HETEROCYLIC BASES
A monocyclic base with six-membered ring
Cytosine, Uracil (RNA), Thymine (DNA)
3-PYRIMIDINE
2-PURINE
NITROGEN-CONTAINING
HETEROCYLIC BASES
A bicyclic base with fused 5- and 6-membered rings
Adenine, Guanine - Pure silver (Ag)
3-PYRIMIDINE
2-PURINE
RULE:
is always attached to Carbon 1 of the sugar
BASE
CONDENSATION REACTION
RULE:
a molecule of water is
formed as the 2 molecules bond together
BASE
CONDENSATION REACTION
FORMATION:
bases, suffix -idine is used
(cytidine, thymidine, uridine)
PYRIMIDINE
PURINE
DEOXY
FORMATION:
bases, the suffix -osine is used
(adenosine, guanosine)
PYRIMIDINE
PURINE
DEOXY
FORMATION:
indicates that sugar unit is
deoxyribose (no oxygen)
PYRIMIDINE
PURINE
DEOXY
Phosphate group is attached to the sugar at
carbon 5 position via phosphoester linkage
Water molecules produce formation
(a)
TYPES OF NUCLEIC ACIDS AND
THEIR STRUCTURE
1. Deoxyribonucleic acid (DNA)
2. Ribonucleic acid (RNA)
Nucleotide polymer in which each of the
monomers contains deoxyribose, a
phosphate group, and one of the
heterocyclic bases: adenine, cytosine,
guanine, and thymine
Primarily located in the cell nucleus
also found in small amounts within
mitochondria
Primary function: storage and transfer
genetic information
DEOXYRIBONUCLEIC ACID (DNA)
RIBONUCLEIC ACID (RNA)
TYPES OF NUCLEIC ACIDS AND
THEIR STRUCTURE
1. Deoxyribonucleic acid (DNA)
2. Ribonucleic acid (RNA)
Ribose - sugar unit in the backbone of RNA
Uracil instead of thymine pairs with adenine
RNA molecules are smaller than DNA
molecules
Occurs in all parts of a cell
Primary function: synthesis of proteins
DEOXYRIBONUCLEIC ACID (DNA)
RIBONUCLEIC ACID (RNA)
1. Polynucleotide chains have sense of
directionality (antiparallel)
3’ unreacted hydroxyl group and
unreacted 5’ phosphate group
2. Polynucleotide have individuality
nucleotide base sequence - basis
for the different amino acids
PRIMARY STRUCTURE OF NUCLEIC ACID
BASE PAIRING
The size of the interior of the DNA double
helix, limits the base pairs that can
hydrogen bond to one another
Only pairs involving small base (pyrimidine)
and one large base (purine) correctly fit
A-T ; G-C
Apple Tree (Adenine + Thymine)
has 2 hydrogen bonds
Group Chat (Guanine + Cytosine)
has 3 hydrogen bonds
PRIMARY STRUCTURE OF NUCLEIC ACID
BASE PAIRING
DNA
5' - A T G C C A T G A - 3'
(a)
Combination of two single strands
The Double Helix
Sugar Phosphate
Backbone: outside
Bases: inside
Bases form specific base pairs, held
together by complementary base
WATSON-CRICK MODEL
CRICK-WATSON MODEL
WATSON MODEL
CRICK MODEL
A DNA SHOULD BE/HAVE:
Nature of two polynucleotide chains in DNA
double helix means that there is a 5’ (prime)
end and a 3’ (prime) end at both ends of the
double helix
ANTIPARALLEL
COMPLEMENTARY BASES
A DNA SHOULD BE/HAVE:
Pairs of bases in a nucleic acid structure
that can hydrogen bond to each other
A-T ; G-C
ANTIPARALLEL
COMPLEMENTARY BASES
RNA
5' - A T G C A T - 3'
(a)
TYPES OF RNA MOLECULES
RNA formed by DNA transcription
Post-transcription processing converts the
hnRNA to mRNA
HETEROGENOUS NUCLEAR RNA (hnRNA)
HOMOZYGOUS NUCELAR RNA (hnRNA)
TYPES OF RNA MOLECULES
RNA that carries instruction for protein
synthesis (genetic information) to the sites
for protein synthesis
MESSENGER RNA (mRNA)
SMALL NUCLEAR RNA (sRNA)
RIBOSOMAL RNA (rRNA)
TRANSER RNA (tRNA)
TYPES OF RNA MOLECULES
RNA that combines with specific proteins to
form ribosomes, the physical site for protein
synthesis
MESSENGER RNA (mRNA)
SMALL NUCLEAR RNA (sRNA)
RIBOSOMAL RNA (rRNA)
TRANSER RNA (tRNA)
TYPES OF RNA MOLECULES
RNA that delivers amino acids to the sites
for protein synthesis
MESSENGER RNA (mRNA)
SMALL NUCLEAR RNA (sRNA)
RIBOSOMAL RNA (rRNA)
TRANSER RNA (tRNA)
TYPES OF RNA MOLECULES
RNA that facilitates the conversion of
heterogeneous nuclear RNA to the
messenger RNA
MESSENGER RNA (mRNA)
SMALL NUCLEAR RNA (sRNA)
RIBOSOMAL RNA (rRNA)
TRANSER RNA (tRNA)
Biochemical process by which DNA
molecules replicates
Breaking of hydrogen bonds between
complementary bases
DNA REPLICATION
DNA HELICASE
REPLICATION FORK
TOPOISOMERASE
SS DNA BINDING PROTEIN
Unwinding point of DNA which is constantly
changing or moving
DNA REPLICATION
DNA HELICASE
REPLICATION FORK
TOPOISOMERASE
SS DNA BINDING PROTEIN
At the origins of replication, DNA helicase
unwinds the DNA double helix
DNA REPLICATION
DNA HELICASE
REPLICATION FORK
TOPOISOMERASE
SS DNA BINDING PROTEIN
Untangle and reduce the tension of DNA strands
DNA REPLICATION
DNA HELICASE
REPLICATION FORK
TOPOISOMERASE
SS DNA BINDING PROTEIN
Single Strand DNA Binding Protein
Keep the strands separated by holding
them in place, so that each strand can
serve as a template for new DNA synthesis
DNA REPLICATION
DNA HELICASE
REPLICATION FORK
TOPOISOMERASE
SS DNA BINDING PROTEIN
synthesized
continuously in the
same direction
TEMPLATE STRANDS
LEADING STRAND
LAGGING STRAND
synthesized
discontinuously in short
fragments (okazaki)
TEMPLATE STRANDS
LEADING STRAND
LAGGING STRAND
Two strands of the DNA from unwinding
TEMPLATE STRANDS
LEADING STRAND
LAGGING STRAND
Enzyme that synthesizes short RNA sequences
FREE NUCLEOTIDES pair with their
complementary base on template
strands by means of hydrogen bonds
RNA PRIMASE
DNA POLYMERASE III
Catalyzed the formation of a new phosphodiester
linkage between the nucleotide and growing
strand; joins the newly attached nucleotides
create one continuous strand in the 5’
-to-3’ direction
Only one strand can grow continuously in
the 5’-to-3’ direction
The other strand is formed in short segment
(Okazaki Fragments) in the 3’
-to-5’
direction
RNA PRIMASE
DNA POLYMERASE III
Joins segments together, acts as a glue
NICKS
DNA LIGASE
Breaks and gaps in okazaki fragments
NICKS
DNA LIGASE
ENZYMES IN DNA REPLICATION
DNA Helicase
Topoisomerase
RNA Primase
DNA Polymerase
DNA Ligase
- exonuclease activity;
remove RNA primer & replaces
with DNA
DNA POL I
DNA POL II
DNA POL III
ENZYMES IN DNA REPLICATION
DNA Helicase
Topoisomerase
RNA Primase
DNA Polymerase
DNA Ligase
- repair function
DNA POL I
DNA POL II
DNA POL III
ENZYMES IN DNA REPLICATION
DNA Helicase
Topoisomerase
RNA Primase
DNA Polymerase
DNA Ligase
- main enzyme that
adds nucleotides in the 5’-3’direction
DNA POL I
DNA POL II
DNA POL III
OTHER REQUIREMENTS IN DNA REPLICATION
PROTEIN (SSB)
NUCLEIC ACID (PRIMER)
NUCLEOTIDES
DNA strand for hnRNA/mRNA synthesis
TRANSCRIPTION
TEMPLATE STRAND
INFORMATIONAL STRAND
DNA strand for hnRNA/mRNA synthesis
TRANSCRIPTION
TEMPLATE STRAND
INFORMATIONAL STRAND
Process by which the DNA direct the synthesis of
hnRNA/mRNA molecules that carry information
needed for protein synthesis
TRANSCRIPTION
TEMPLATE STRAND
INFORMATIONAL STRAND
Non-template strand, gives the base sequence
present in the hnRNA except for U replacing T
TRANSCRIPTION
TEMPLATE STRAND
INFORMATIONAL STRAND
POST TRANSCRIPTION:
Conversion of hnRNA to mRNA
Genes contains 2 segments:
Contains/codes for genetic information (DNA
segments that help express a genetic message)
EXONS
INTRONS
POST TRANSCRIPTION:
Conversion of hnRNA to mRNA
Genes contains 2 segments:
Portions that do not convey genetic information
(DNA segments that interrupt a genetic message)
EXONS
INTRONS
Process of removing introns from hnRNA
molecule and joining the remaining exons
together to form a mRNA molecule
Involves snRNA which always complexed
with snRNP
SPLICING
SPLICECEOSOMES
ALTERNATIVE SPLICING
TRANSCRIPTOME
TRANSLATION
Large assembly of snRNA molecules and proteins
involved in the conversion of hnRNA molecules to
mRNA molecules
SPLICING
SPLICECEOSOMES
ALTERNATIVE SPLICING
TRANSCRIPTOME
TRANSLATION
Process by which several different proteins that
are variations of a basic structural motif can be
produced from a single gene
SPLICING
SPLICECEOSOMES
ALTERNATIVE SPLICING
TRANSCRIPTOME
TRANSLATION
All of RNA molecules that can be generated from
the genetic material in a genome
SPLICING
SPLICECEOSOMES
ALTERNATIVE SPLICING
TRANSCRIPTOME
TRANSLATION
Process by which mRNA codons are
deciphered, and a particular protein
molecule is synthesized
Process by which the genetic message is
decoded and used to make proteins
Every cell contains 20 or more different
tRNAs, each designed to carry a specific
amino acid
SPLICING
SPLICECEOSOMES
ALTERNATIVE SPLICING
TRANSCRIPTOME
TRANSLATION
Complex formed from a snRNA molecule and
several proteins
SMALL NUCLEAR RIBONUCLEOPROTEIN
PARTICLE (snRP)
POST TRANSLATION
ACTIVATED TRNA
tRNA that has an amino acid covalently bonded to it
at its 3’ end through an ester linkage
SMALL NUCLEAR RIBONUCLEOPROTEIN
PARTICLE (snRP)
POST TRANSLATION
ACTIVATED TRNA
Post translational modification
Gives the protein final form to be functional
SMALL NUCLEAR RIBONUCLEOPROTEIN
PARTICLE (snRP)
POST TRANSLATION
ACTIVATED TRNA
An amino acid interacts with an activator
molecule to form a highly energetic complex
The complex reacts with tRNA to produce
an activated tRNA molecule
SMALL NUCLEAR RIBONUCLEOPROTEIN
PARTICLE (snRP)
POST TRANSLATION
ACTIVATED TRNA
ACTIVATION OF TRNA
The polypeptide chain continues to lenghten
until a stop codon appears on the mRNA
The new protein is cleaved from last RNA
TERMINATION
ELONGATION
ANTICODON
INITIATION
TRANSFER RNA (tRNA)
3 nucleotide sequence on a tRNA molecule
that is complementary to a codon on a
mRNA molecule
TERMINATION
ELONGATION
ANTICODON
INITIATION
TRANSFER RNA (tRNA)
3 nucleotide sequence on a tRNA molecule
that is complementary to a codon on a
mRNA molecule
TERMINATION
ELONGATION
ANTICODON
INITIATION
TRANSFER RNA (tRNA)
Another tRNA with the second amino acid
binds at the A site
The methionine transfers from:
P site to A site
The ribosome shift to the next codon,
making it a site available for the tRNA
carrying the third amino acid
TERMINATION
ELONGATION
ANTICODON
INITIATION
TRANSFER RNA (tRNA)
mRNA attaches to the surface of a small ribosomal
subunit such that its first codon, which is always the
initiating codon AUG-methionine, occupied the
DNA sequence
TERMINATION
ELONGATION
ANTICODON
INITIATION
TRANSFER RNA (tRNA)
Threadlike structures
Contains Genes
Colored Bodies
(a)
CHROMOSOME STURCTURES:
Found in the middle; Used during cell
division as attachment point
CENTROMERE
TELOMERE
METACENTRIC
SUBMETACENTRIC
ACROCENTRIC
CHROMOSOME STURCTURES:
Two arms are nearly equal in length
CENTROMERE
TELOMERE
METACENTRIC
SUBMETACENTRIC
ACROCENTRIC
