Session 3

advertisement
FTCE SAE
BIOLOGY PREPARATION COURSE
Instructor
Valerie Ruwe
vruwe@browardschools.com
SESSION NORMS
No side bars
 Work on assigned materials only
 Keep phone on vibrate only
 If a call must be taken please leave the room to
do so

SESSION AGENDA
Session I: Pre-Test, Competencies 1 & 2
 Session II: Competencies 3,4
 Session III: Competencies 5,6
 Session IV: Competencies 7,8
 Session V: Competencies 9,10

5. KNOWLEDGE OF GENETIC PRINCIPLES,
PROCESSES, AND APPLICATIONS 12 %
1.
2.
3.
4.
5.
6.
Evaluate the relationships between the structure and function
of DNA.
Identify and sequence the principal events in DNA
replication.
Identify and sequence the principal events of protein
synthesis.
Distinguish between the various functions of DNA and RNA.
Distinguish between the regulatory systems for prokaryotic
and eukaryotic protein synthesis.
Evaluate the appropriate application of DNA manipulation
techniques (e.g., gene splicing, recombinant DNA, gene
identification, PCR technique).
5. KNOWLEDGE OF GENETIC PRINCIPLES,
PROCESSES, AND APPLICATIONS 12 %
7.
Predict the effects of environmental and other influences on gene structure
and expression (e.g., viruses, oncogenes, carcinogenic agents, mutagenic
agents).
8.
Analyze the processes and products of meiosis (e.g., gametogenesis in male
and female vertebrates; plant, animal and fungi meiosis) in representative
examples from various kingdoms.
9.
Differentiate between classical laws of inheritance, their relationship to
chromosomes, and related terminology.
10.
Analyze applications of probability and chi-square analysis in genetics.
11.
Analyze various patterns of inheritance (e.g., sex-linked, sex-influenced, sexlimited, incomplete dominance, autosomal linkage, multiple alleles, polygenic
inheritance).
12.
Identify the causes of genetic disorders (e.g., point mutation, nondisjunction,
translocation, deletion, insertion, inversion, duplication).
13.
Identify the effect of a mutation in a DNA sequence on the products of protein
synthesis.
EVALUATE THE RELATIONSHIPS BETWEEN THE STRUCTURE AND
FUNCTION OF DNA







5-carbon pentose sugar (deoxyribose)
a phosphate attached at the #5 carbon of
the sugar
an organic or nitrogenous base – a
nitrogen containing ring structure –
attached at the #1 carbon of the sugar.
the phosphates and sugars form the
backbone of the DNA strand.
Hydrogen bonds form between the
nitrogenous bases of each strand of DNA
forming a structure that resembles a
ladder; the nitrogenous bases are the
rungs of the ladder and the sugars and
phosphates form the sides of the ladder.
The sides of the ladder run in an
antiparallel configuration; the sugarphosphate bonds are laid down in a 5’ to 3’
configuration – a phosphate is bonded to a
#5 carbon followed by another phosphate
bonded to the #3 carbon which joins the
nucleotide to the #5 carbon of the next
sugar in the backbone. The opposite side
of the double helix is reversed – the
phosphate is bonded to the #3 carbon
first.
The amount of A= T & amount of C= G
EVALUATE THE RELATIONSHIPS BETWEEN THE STRUCTURE AND
FUNCTION OF DNA

Prokaryotic DNA
Single Circular
Chromosome
 Contain Less
 Contains only EXONS
(expressed sequences)
 No proteins
 Smaller circular plasmid
DNA
 Can be exchanged




Transformation
Transduction
Conjugation
EVALUATE THE RELATIONSHIPS BETWEEN THE STRUCTURE AND
FUNCTION OF DNA

Eukaryotic DNA
Chromosomes with sister
chromatid attached at
centromere visible during
mitosis
 DNA wrapped around
histones
 Contains only EXONS
(expressed sequences)
 Chromatin is uncoiled when
genes are being transcribed

IDENTIFY AND SEQUENCE THE PRINCIPAL EVENTS IN DNA
REPLICATION.








DNA is copied by a process called DNA
replication.
During semi conservative replication the 2
strands of DNA separate and 2 new
complementary strands are synthesized.
Helicase is an enzyme that unzips the doublestranded DNA helix.
Primase is an enzyme which produces an RNA
primer needed to get the process of DNA
replication started.Much like you put on a coat
of primer before adding paint to a wall, an RNA
primer must be placed on the DNA before new
DNA bases can be made or synthesized.
DNA polymerase III is an enzyme which adds
the new, complementary bases (A, T, C, G) to
the growing DNA strand in the proper 5' to 3'
direction (5'-->3').
DNA polymerase I is a proof-reading enzyme
that corrects any "mistakes" made when the
DNA is being copied.
Ligase is an enzyme that acts like molecular
tape, linking or joining the new DNA bases
together.
Lagging-strand replication is
discontinuous, with short Okazaki
fragments being formed that are later
linked together.
IDENTIFY AND SEQUENCE THE PRINCIPAL EVENTS IN DNA
REPLICATION.

Origins of replication





Single origin for bacterial chromosome
Many origins for eukaryotic chromosomes
Replication forks
Prokaryotes have circular DNA,
thus this is not a problem
Eukaryotic cells have special
nucleotide sequences called
telomeres at their ends
Telomeres do not contain genes
Telomeres consist of multiple
repeats of one short nucleotide
sequence
 Example is TTAGGG for humans



Telomeres protect genes from
being eroded by successive
rounds of replication

Telomeres also prevent cell from
recognizing the ends as damaged
DISTINGUISH BETWEEN THE VARIOUS FUNCTIONS OF DNA AND
RNA.

Central Dogma of Biology

DNA>RNA>Protein
DISTINGUISH BETWEEN THE VARIOUS FUNCTIONS OF DNA AND
RNA.
mRNA (messenger RNA) carries genetic information
from the nucleus to the
cytoplasm
 tRNA (transfer RNA) brings amino acids to
ribosomes during protein
synthesis
 rRNA (ribosomal RNA) guides the translation of
mRNA into a protein






IDENTIFY AND SEQUENCE THE PRINCIPAL EVENTS OF PROTEIN
SYNTHESIS.
. Transcription
Before the synthesis of a protein
begins, the corresponding RNA
molecule is produced by RNA
transcription.
One strand of the DNA double
helix is used as a template by the
RNA polymerase to synthesize a
messenger RNA (mRNA).
This mRNA migrates from the
nucleus to the cytoplasm.
During this step, mRNA goes
through different types of
maturation including one called
splicing when the non-coding
sequences are eliminated.
The coding mRNA sequence can
be described as a unit of three
nucleotides called a codon.
IDENTIFY AND SEQUENCE THE PRINCIPAL EVENTS OF PROTEIN
SYNTHESIS.






Translation
The ribosome binds to the mRNA
at the start codon (AUG) that is
recognized only by the initiator
tRNA.
The ribosome proceeds to the
elongation phase of protein
synthesis.
During this stage, complexes,
composed of an amino acid linked
to tRNA, sequentially bind to the
appropriate codon in mRNA by
forming complementary base pairs
with the tRNA anticodon.
The ribosome moves from codon to
codon along the mRNA. Amino
acids are added one by one,
translated into polypeptidic
sequences dictated by DNA and
represented by mRNA.
At the end, a release factor binds
to the stop codon, terminating
translation and releasing the
complete polypeptide from the
ribosome.
IDENTIFY AND SEQUENCE THE PRINCIPAL EVENTS OF PROTEIN
SYNTHESIS..




The sequence of a eukaryotic
protein-coding gene is typically
not colinear with the translated
mRNA; that is, the transcript of
the gene is a molecule that must
be processed to remove extra
sequences (introns) before it is
translated into the polypeptide.
Most eukaryotic protein-coding
genes contain segments called
introns, which break up the amino
acid coding sequence into
segments called exons.
The transcript of these genes is
the pre-mRNA (precursor-mRNA).
The pre-mRNA is processed in the
nucleus to remove the introns and
splice the exons together into a
translatable mRNA. That mRNA
exits the nucleus and is translated
in the cytoplasm.
DISTINGUISH BETWEEN THE REGULATORY SYSTEMS FOR
PROKARYOTIC AND EUKARYOTIC PROTEIN SYNTHESIS.






Prokaryotic Control Gene
Expression by Operon
Lac Operon is inducible
The lac operon is a DNA sequence
that governs the production of
proteins and enzymes for
transporting and metabolizing
lactose in bacteria such as E. coli.
In the absence of lactose, the lac
repressor substance binds to the
operator (a part of the DNA
sequence), inhibiting the
production of three proteins.
Lactose, however,
represses/inhibits the repressor,
allowing the enzymes to be
produced.
When the mRNA of the lac operon
is transcribed, a polycistronic
mRNA, three proteins will be
produced by ribosomes: βgalactosidase, lactose permease
and transacetylase.
IDENTIFY AND SEQUENCE THE PRINCIPAL EVENTS OF PROTEIN
SYNTHESIS..






Prokaryotic Control Gene
Expression by Operon
Tryp Operon is repressible
trp operon is normally
transcribed
When tryptophan is
present, it binds with the
trp repressor, triggering
an allosteric change
The trp repressor with
bound tryptophan binds to
the operator, shutting off
transcription of the trp
operon
·Tryptophan is a
corepressor
IDENTIFY AND SEQUENCE THE PRINCIPAL EVENTS OF PROTEIN
SYNTHESIS..







Eukaryotic Control
Chromatin Remodelling The
region of the chromosome must be
opened up in order for eznymes
and transcription factors to access
the gene
Transcription Control The
most common type of genetic
regulation
Turning on and off of mRNA
formation
Post-Transcriptional Control
Regulation of the processing of a
pre-mRNA into a mature mRNA
Translational Control
Regulation of the rate of Initiation
Post-Tranlational Control
(protein activity control)
Regulation of the modification of
an immature or inactive protein to
form an active protein
EVALUATE THE APPROPRIATE APPLICATION OF DNA
MANIPULATION TECHNIQUES (E.G., GENE SPLICING,
RECOMBINANT DNA, GENE IDENTIFICATION, PCR TECHNIQUE).






Gene splicing is just what it sounds like: cutting the DNA of a gene to add base
pairs.
Chemicals called restriction enzymes act as the scissors to cut the DNA.
Once it finds that sequence in a strand of DNA, it attacks it and splits the base
pairs apart, leaving single helix strands at the end of two double helixes.
Scientists are then free to add any genetic sequences they wish into the broken
chain and, afterwards, the chain is repaired (as a longer chain with the added
DNA) with another enzyme called ligase.
Hence, any form of genetic material can be spliced together; bacteria and chicken
DNA can, and have been, combined
Recombinant DNA contains DNA from two different organisms.
EVALUATE THE APPROPRIATE APPLICATION OF DNA
MANIPULATION TECHNIQUES (E.G., GENE SPLICING,
RECOMBINANT DNA, GENE IDENTIFICATION, PCR TECHNIQUE).







Recombinant DNA technology has
extensive applications in developing
pharmaceuticals.
The first drug created using recombinant
DNA was human insulin.
To make the recombinant DNA, the
insulin gene is cut from human DNA with
restriction enzymes.
The DNA is then placed in a vector, such
as a plasmid, and another enzyme, DNA
ligase, seals the plasmid containing the
insulin gene.
The plasmid is placed into another
bacterial cell and this new cell produces
multiple copies of the gene, called clones,
when it divides.
The host bacterial cell also expresses the
gene product, in this case insulin.
This technology is possible because the
genetic code is universal. DNA functions in
the same way, whether in a human cell or
a bacterial cell.
EVALUATE THE APPROPRIATE APPLICATION OF DNA
MANIPULATION TECHNIQUES (E.G., GENE SPLICING,
RECOMBINANT DNA, GENE IDENTIFICATION, PCR TECHNIQUE).





Southern blotting is a technique
for detecting specific DNA
fragments in a complex mixture.
It has been applied to detect
Restriction Fragment Length
Polymorphism (RFLP) and
Variable Number of Tandem
Repeat Polymorphism
(VNTR). The latter is the basis
of DNA fingerprinting.
Polymorphism refers to the DNA
sequence variation between
individuals of a species.
If the sequence variation occurs
at the restriction sites, it could
result in RFLP.
The most well known example is
the RFLP due to b globin gene
mutation.
EVALUATE THE APPROPRIATE APPLICATION OF DNA
MANIPULATION TECHNIQUES (E.G., GENE SPLICING,
RECOMBINANT DNA, GENE IDENTIFICATION, PCR TECHNIQUE).

The purpose of a PCR
(Polymerase Chain Reaction)
is to make a huge number of
copies of a gene. This is
necessary to have enough
starting template for
sequencing.
PREDICT THE EFFECTS OF ENVIRONMENTAL AND OTHER
INFLUENCES ON GENE STRUCTURE AND EXPRESSION (E.G.,
VIRUSES, ONCOGENES, CARCINOGENIC AGENTS, MUTAGENIC
AGENTS).





In the last few years, gene-therapy has focused
the attention of the scientific community since it
could be an efficient new way to cure several
major human diseases such as cancer, AIDS,
cystic fibrosis, anaemia or progeria.
The concept of gene therapy is the substitution
in the cell nucleus of abnormal genes causing
diseases by normal healthy DNA sequences.
The main challenge in gene therapy is the
design of specific carriers, which allow efficient
delivery of the healthy genes in the cell
(transfection).
Such carriers should be able to transport DNA
in the bloodstream, to cross efficiently cell
membranes and to free the genetic material
near the cell nucleus.
Typically, viral systems are the most effective
carriers for gene delivery. Viral systems can
selectively target cells and usually possess a
very high transfection efficiency, leading to high
gene expression rates. However, viral carriers
can also be very toxic for the human body.
Moreover, their isolation from biological sources
and their processing are very expensive
PREDICT THE EFFECTS OF ENVIRONMENTAL AND OTHER
INFLUENCES ON GENE STRUCTURE AND EXPRESSION (E.G.,
VIRUSES, ONCOGENES, CARCINOGENIC AGENTS, MUTAGENIC
AGENTS).








Cancer results from the breakdown of the
controls that regulate cells.
These controls all originate from the genetic
plans in a cell's DNA.
Therefore, a mistake or change in a cell's DNA
code would cause problems with the cell's control
system.
A mutation is a change in the normal DNA code.
A mutation can be spontaneous or caused by
outside factors. Mutations can have large effects
on the cell or no effect at all.
A mutagen is a substance or agent that induces
heritable change in cells or organisms.
A carcinogen is a substance that induces
unregulated growth processes in cells or tissues
of multicellular animals, leading to cancer.
Although mutagen and carcinogen are not
synonymous terms, the ability of a substance to
induce mutations and its ability to induce cancer
are strongly correlated.
Mutagenesis refers to processes that result in
genetic change, and carcinogenesis (the
processes of tumor development) may result
from mutagenic events
PREDICT THE EFFECTS OF ENVIRONMENTAL AND OTHER
INFLUENCES ON GENE STRUCTURE AND EXPRESSION (E.G.,
VIRUSES, ONCOGENES, CARCINOGENIC AGENTS, MUTAGENIC
AGENTS).



Cancer genes are specific parts of DNA that
when mutated, can lead to cancer. Cancer genes
can be divided into two major categories:
oncogenes and tumor suppressor genes. In
normal cells, these two types of genes work
together to regulate cell division.
Oncogenes are genes that usually produce
positive signals that promote cell division. When
mutated, these genes become permanently
"turned on," causing cancer cells to continuously
divide out of control. A defective oncogene is
analogous to a car with the gas pedal stuck in
the "on" position. It will move forward whether
you push the pedal or not and can't be stopped.
Tumor suppressor genes are genes that usually
produce negative signals that tell cells not to
divide. When mutated, these genes become
permanently "turned off," allowing cancer cells
to divide even when they are not supposed to. A
defective tumor suppressor gene is like a car
with a broken brake system. You won't be able
to stop the car when it is moving.
ANALYZE THE PROCESSES AND PRODUCTS OF MEIOSIS (E.G.,
GAMETOGENESIS IN MALE AND FEMALE VERTEBRATES; PLANT,
ANIMAL AND FUNGI MEIOSIS) IN REPRESENTATIVE EXAMPLES
FROM VARIOUS KINGDOMS.
•Meiosis reduces chromosome number from
diploid to haploid: a closer look
•Meiosis and sexual reproduction significantly
contribute to genetic variation among offspring.
•Meiosis includes steps that closely resemble
corresponding steps in mitosis.
•Like mitosis, meiosis is preceded by replication of
the chromosomes.
•Meiosis differs from mitosis in that this single
replication is followed by two consecutive cell
divisions: Meiosis I and Meiosis II.
•These cell divisions produce four daughter cells
instead of two as in mitosis.
•The resulting daughter cells have half the number
of chromosomes as the original cell; whereas,
daughter cells of mitosis have the same number of
chromosomes as the parent cell.


Sources of Genetic Variation
Independent Assortment




Anaphase I
Homologues separate and are moved towards the poles by the spindle apparatus.
Sister chromatids remain attached at their centromeres and move as a unit towards the same pole, while the
homologue moves towards the opposite pole.
This differs from mitosis during which chromosomes line up individually on the metaphase plate (rather than in
pairs) and sister chromatids are moved apart towards opposite poles of the cell.
Crossing Over







Prophase I
Synapsis occurs.
During this process, homologous chromosomes come together as pairs.
.Since each chromosome has two chromatids, each homologous pair in synapsis appears as a complex of four
chromatids or a tetrad.
In each tetrad, sister chromatids of the same chromosome are attached at their centromeres.
Nonsister chromatids are linked by X-shaped chiasmata, sites where homologous strand exchange or crossingover occurs.
Random Fertilization
ANALYZE THE PROCESSES AND PRODUCTS OF MEIOSIS (E.G.,
GAMETOGENESIS IN MALE AND FEMALE VERTEBRATES; PLANT,
ANIMAL AND FUNGI MEIOSIS) IN REPRESENTATIVE EXAMPLES
FROM VARIOUS KINGDOMS.
•Animal: In animals, including humans, gametes are the only haploid cells. Meiosis
occurs during gamete production. The resulting gametes undergo no further cell
division before fertilization.
•Fertilization produces a diploid zygote that divides by mitosis to produce a diploid
multicellular animal.
•Fungi and Some Protists: In many fungi and some protists, the only diploid stage
is the zygote. Meiosis occurs immediately after the zygote forms.
•Resulting haploid cells divide by mitosis to produce a haploid multicellular organism.
•Gametes are produced by mitosis from the already haploid organism.
•Plants and Some Algae: Plants and some species of algae alternate between
multicellular haploid and diploid generations. This type of life cycle is called an
alternation of generations.
•The multicellular diploid stage is called a sporophyte, or spore-producing plant.
Meiosis in this stage produces haploid cells called spores.
•Haploid spores divide mitotically to generate a multicellular haploid stage called a
gametophyte, or gamete-producing plant.
•Haploid gametophytes produce gametes by mitosis.
•Fertilization produces a diploid zygote which develops into the next sporophyte
generation.
ANALYZE THE PROCESSES AND PRODUCTS OF MEIOSIS (E.G.,
GAMETOGENESIS IN MALE AND FEMALE VERTEBRATES; PLANT,
ANIMAL AND FUNGI MEIOSIS) IN REPRESENTATIVE EXAMPLES
FROM VARIOUS KINGDOMS.
ANALYZE THE PROCESSES AND PRODUCTS OF MEIOSIS (E.G.,
GAMETOGENESIS IN MALE AND FEMALE VERTEBRATES; PLANT,
ANIMAL AND FUNGI MEIOSIS) IN REPRESENTATIVE EXAMPLES
FROM VARIOUS KINGDOMS.
Meiosis occurs in the gametangia.
• Gametangium = an organ that produces
gametes
• In animals, the gametangia are the ovaries
in females which produce eggs and the the
testes in males which produce sperm.
•Meiosis is part of gametogenesis, the formation of
gametes.
•Following meiosis, haploid cells undergo changes in
their structure so as to form specialized
reproductive cells called gametes.
•Spermatogenesis (sperm-formation) occurs in the
testes of males while oogenesis (egg-formation)
occurs in the ovaries of females.
ANALYZE THE PROCESSES AND PRODUCTS OF MEIOSIS (E.G.,
GAMETOGENESIS IN MALE AND FEMALE VERTEBRATES; PLANT,
ANIMAL AND FUNGI MEIOSIS) IN REPRESENTATIVE EXAMPLES
FROM VARIOUS KINGDOMS.
•Moccurs in sporangia (organs that
make spores), producing haploid
spores.
• A spore develops into a haploid
stage called the gametophyte
("gamete-plant") which produces
gametes.
• After fertilization, a zygote
develops into a diploid stage called
the sporophyte ("spore-plant")
which produces spores.
• So there is an alternation of two
multicellular stages: sporophyte
(2n) and gametophyte (n).
ANALYZE THE PROCESSES AND PRODUCTS OF DIFFERENTIATE
BETWEEN CLASSICAL LAWS OF INHERITANCE, THEIR
RELATIONSHIP TO CHROMOSOMES, AND RELATED TERMINOLOGY
Mendel's first law,
stating that allele pairs
separate during gamete
formation, and then
randomly re-form pairs
during the fusion of
gametes at
fertilization.
 As long as they are
unlinked

ANALYZE THE PROCESSES AND PRODUCTS OF DIFFERENTIATE
BETWEEN CLASSICAL LAWS OF INHERITANCE, THEIR
RELATIONSHIP TO CHROMOSOMES, AND RELATED TERMINOLOGY













Trait - any characteristic that can be passed from parent to offspring
Heredity - passing of traits from parent to offspring
Genetics - study of heredity
Alleles - two forms of a gene (dominant & recessive)
Dominant - stronger of two genes expressed in the hybrid; represented
by a capital letter (R)
Recessive - gene that shows up less often in a cross; represented by a
lowercase letter (r)
Genotype - gene combination for a trait (e.g. RR, Rr, rr)
Phenotype - the physical feature resulting from a genotype (e.g. tall,
short)
Homozygous genotype - gene combination involving 2 dominant or 2
recessive genes (e.g. RR or Rr); also called pure
Heterozygous genotype - gene combination of one dominant & one
recessive allele (e.g. Rr); also called hybrid
Monohybrid cross - cross involving a single trait
Dihybrid cross - cross involving two traits
Punnett Square - used to solve genetics problems
ANALYZE THE PROCESSES AND PRODUCTS OF DIFFERENTIATE
BETWEEN CLASSICAL LAWS OF INHERITANCE, THEIR
RELATIONSHIP TO CHROMOSOMES, AND RELATED TERMINOLOGY




Mendel's first law, stating that
allele pairs separate during
gamete formation, and then
randomly re-form pairs during
the fusion of gametes at
fertilization.
As long as they are unlinked
Mendel demonstrated that an
organism inherits an allele from
each of its two parents — this is
the law of segregation.
The phenotypes of mothers and
fathers often appear to blend in
their offspring, and consequently
most students of heredity before
Mendel thought that inheritance
involved some sort of blending of
genes.
ANALYZE THE PROCESSES AND PRODUCTS OF DIFFERENTIATE
BETWEEN CLASSICAL LAWS OF INHERITANCE, THEIR
RELATIONSHIP TO CHROMOSOMES, AND RELATED TERMINOLOGY





Mendel's Second Law
Also known as the principle
of independent assortment
Mendel's Second Law holds
that genes are inherited
independently of each other.
Mendelism is an atomistic
theory of heredity.
Not only are there discrete
genes that encode discrete
proteins, but also the genes
are preserved during
development and passed on
unaltered to the next
generation.
ANALYZE THE PROCESSES AND PRODUCTS OF DIFFERENTIATE
BETWEEN CLASSICAL LAWS OF INHERITANCE, THEIR
RELATIONSHIP TO CHROMOSOMES, AND RELATED TERMINOLOGY
ANALYZE APPLICATIONS OF PROBABILITY AND CHI-SQUARE
ANALYSIS IN GENETICS.
ANALYZE APPLICATIONS OF PROBABILITY
AND CHI-SQUARE ANALYSIS IN GENETICS.







Goodness of fit tests
• You can use a goodness of
fit test (like the chi-square
test) to find out how close
results like those in the
examples are to the expected
outcomes.
• This kind of analysis is
used to test a hypothesis.
• You can't prove the
hypothesis is right or wrong.
• You can only say how likely
the hypothesis is to be
correct.
• You actually determine if
the observed results are
consistent with the expected
results.
• Based on the analysis, you
accept or reject your
hypothesis.
ANALYZE VARIOUS PATTERNS OF INHERITANCE (E.G., SEXLINKED, SEX-INFLUENCED, SEX-LIMITED, INCOMPLETE
DOMINANCE, AUTOSOMAL LINKAGE, MULTIPLE ALLELES,
POLYGENIC INHERITANCE).





Sex linkage is the phenotypic
expression of an allele related to the
chromosomal sex of the individual.
This mode of inheritance is in contrast
to the inheritance of traits on
autosomal chromosomes, where both
sexes have the same probability of
inheritance.
Since humans have many more genes
on the X than the Y, there are many
more X-linked traits than Y-linked
traits.
In mammals, the female is the
homozygous sex, with two X
chromosomes (XX), while the male is
heterozygous, with one X and one Y
chromosome (XY). Genes on the X or Y
chromosome are called sex linked
genes.
In birds, the opposite is true: the male
is the homozygous sex, having two Z
chromosomes (ZZ), and the female
(hen) is heterozygous, having one Z
and one W chromosome (ZW).
ANALYZE VARIOUS PATTERNS OF INHERITANCE (E.G., SEXLINKED, SEX-INFLUENCED, SEX-LIMITED, INCOMPLETE
DOMINANCE, AUTOSOMAL LINKAGE, MULTIPLE ALLELES,
POLYGENIC INHERITANCE).
Sex influenced: These traits are expressed to some
degree in both sexes, but are differentially affected
by sex hormones. Examples include amount of body
hair, muscle mass, and male pattern balding.
 Sex-limited inheritance is where an allele on an
autosomal gene cannot be expressed because the
individual is the wrong sex. For example, a gene
governing breast size is only expressed in females,
whereas a gene for beard growth is only expressed
in males.
 Both Auotsomal alleles

ANALYZE VARIOUS PATTERNS OF INHERITANCE (E.G., SEXLINKED, SEX-INFLUENCED, SEX-LIMITED, INCOMPLETE
DOMINANCE, AUTOSOMAL LINKAGE, MULTIPLE ALLELES,
POLYGENIC INHERITANCE).
Incomplete Dominance
 The heterozygous
condition results in an
intermediate (third)
blended phenotype.
 A capital letter is used to
represent one allele and
the same capital letter
prime represents the other
allele

ANALYZE VARIOUS PATTERNS OF INHERITANCE (E.G., SEXLINKED, SEX-INFLUENCED, SEX-LIMITED, INCOMPLETE
DOMINANCE, AUTOSOMAL LINKAGE, MULTIPLE ALLELES,
POLYGENIC INHERITANCE).


You will not always have one
recessive and one dominant
allelle; sometimes, there
might be two or more that
are c dominant.
Take the example of blood
group, where A and B are
dominant to O, and A and B
are codominant. This means
that if you have the genotype
AO or BO then your blood
type will be A or B, but
having AB means you have
both A and B blood group,
and the only way to have
blood group O is to have the
genotype OO.
ANALYZE VARIOUS PATTERNS OF INHERITANCE (E.G., SEXLINKED, SEX-INFLUENCED, SEX-LIMITED, INCOMPLETE
DOMINANCE, AUTOSOMAL LINKAGE, MULTIPLE ALLELES,
POLYGENIC INHERITANCE).
Epistasis: gene at one
locus affects outcome at
another locus
 e.g., color of labrador
retrievers
 melanin production:
B=more melanin
 b=less melanin
 melanin deposition:
E=deposit melanin in fur
 e=don't deposit in fur

ANALYZE VARIOUS PATTERNS OF INHERITANCE (E.G., SEXLINKED, SEX-INFLUENCED, SEX-LIMITED, INCOMPLETE
DOMINANCE, AUTOSOMAL LINKAGE, MULTIPLE ALLELES,
POLYGENIC INHERITANCE).

Peliotropy: one gene
multiple effects
ANALYZE VARIOUS PATTERNS OF INHERITANCE (E.G., SEXLINKED, SEX-INFLUENCED, SEX-LIMITED, INCOMPLETE
DOMINANCE, AUTOSOMAL LINKAGE, MULTIPLE ALLELES,
POLYGENIC INHERITANCE).
Polygenic traits are traits
that are controlled by
several different genes.
 Usually these traits exist
on a continuum of
expression.
 For example consider
height; there are not just
two types of height but
instead normal height
exists on a fairly large
continum of about 12
inches

ANALYZE VARIOUS PATTERNS OF INHERITANCE (E.G., SEXLINKED, SEX-INFLUENCED, SEX-LIMITED, INCOMPLETE
DOMINANCE, AUTOSOMAL LINKAGE, MULTIPLE ALLELES,
POLYGENIC INHERITANCE).
Polygenic traits are traits
that are controlled by
several different genes.
 Usually these traits exist
on a continuum of
expression.
 For example consider
height; there are not just
two types of height but
instead normal height
exists on a fairly large
continum of about 12
inches

IDENTIFY THE CAUSES OF GENETIC DISORDERS (E.G., POINT
MUTATION, NONDISJUNCTION, TRANSLOCATION, DELETION,
INSERTION, INVERSION, DUPLICATION)



point mutation, or single
base substitution, is a type of
mutation that causes the
replacement of a single base
nucleotide with another
nucleotide of the genetic
material, DNA or RNA.
The term point mutation also
includes insertions or
deletions of a single base
pair.
A point mutant is an
individual that is affected by
a point mutation.
IDENTIFY THE CAUSES OF GENETIC DISORDERS (E.G., POINT
MUTATION, NONDISJUNCTION, TRANSLOCATION, DELETION,
INSERTION, INVERSION, DUPLICATION)




A chromosome anomaly, abnormality
or aberration reflects an atypical
number of chromosomes or a structural
abnormality in one or more
chromosomes.
A karyotype refers to a full set of
chromosomes from an individual which
can be compared to a "normal"
karyotype for the species via genetic
testing.
A chromosome anomaly may be
detected or confirmed in this manner.
Chromosome anomalies usually occur
when there is an error in cell division
following meiosis or mitosis.
There are many types of chromosome
anomalies. They can be organized into
two basic groups, numerical and
structural anomalies.
IDENTIFY THE CAUSES OF GENETIC DISORDERS (E.G., POINT
MUTATION, NONDISJUNCTION, TRANSLOCATION, DELETION,
INSERTION, INVERSION, DUPLICATION)





Nondisjunction ("not coming apart") is
the failure of chromosome pairs to
separate properly during meiosis stage
1 or stage 2.
This could arise from a failure of
homologous chromosomes to separate
in meiosis I, or the failure of sister
chromatids to separate during meiosis
II or mitosis.
The result of this error is a cell with an
imbalance of chromosomes. Such a cell
is said to be aneuploid.
Loss of a single chromosome (2n-1), in
which the daughter cell(s) with the
defect will have one chromosome
missing from one of its pairs, is
referred to as a monosomy.
Gaining a single chromosome, in which
the daughter cell(s) with the defect will
have one chromosome in addition to its
pairs is referred to as a trisomy.
IDENTIFY THE EFFECT OF A MUTATION IN A DNA SEQUENCE ON
THE PRODUCTS OF PROTEIN SYNTHESIS





Deletion and insertion mutations also have distinct effects on
the coding capabilities of genes (Figure 14.12).
If the number of deleted or inserted nucleotides is three or a
multiple of three then one or more codons are removed or
added, the resulting loss or gain of amino acids having varying
effects on the function of the encoded protein.
Deletions or insertions of this type are often inconsequential
but will have an impact if, for example, amino acids involved in
an enzyme's active site are lost, or if an insertion disrupts an
important secondary structure in the protein.
On the other hand, if the number of deleted or inserted
nucleotides is not three or a multiple of three then a frameshift
results, all of the codons downstream of the mutation being
taken from a different reading frame from that used in the
unmutated gene.
This usually has a significant effect on the protein function,
because a greater or lesser part of the mutated polypeptide has
a completely different sequence to the normal polypeptide.
BREAK TIME!!!
6. KNOWLEDGE OF THE INTERACTION OF
CELL STRUCTURE AND FUNCTION 10 %
1.
Distinguish the structure and function of viruses and prokaryotic
organisms
2.
Identify the effects of viruses (e.g., HIV, influenza, measles, TMV,
feline leukemia, genital warts, some human cancers) on organisms.
3.
Relate the structures and functions (e.g. morphology, motility,
reproduction and growth, metabolic diversity) of prokaryotic
organisms to their behavior and identification.
4.
Differentiate between the major types of bacterial genetic
recombination (i.e., transduction, transformation, and conjugation).
5.
Relate microbial processes and products that are helpful or harmful
to human beings and their use in biotechnology
DISTINGUISH THE STRUCTURE AND FUNCTION OF VIRUSES AND
PROKARYOTIC ORGANISMS
DISTINGUISH THE STRUCTURE AND FUNCTION OF VIRUSES AND
PROKARYOTIC ORGANISMS
DISTINGUISH THE STRUCTURE AND FUNCTION OF VIRUSES AND
PROKARYOTIC ORGANISMS
IDENTIFY THE EFFECTS OF VIRUSES (E.G., HIV,
INFLUENZA, MEASLES, TMV, FELINE LEUKEMIA,
GENITAL WARTS, SOME HUMAN CANCERS) ON
ORGANISMS

Human immunodeficiency virus (HIV) is
a lentivirus (a member of the retrovirus
family) that causes acquired
immunodeficiency syndrome (AIDS),[1][2]
a condition in humans in which
progressive failure of the immune system
allows life-threatening opportunistic
infections and cancers to thrive. Infection
with HIV occurs by the transfer of blood,
semen, vaginal fluid, pre-ejaculate, or
breast milk. Within these bodily fluids,
HIV is present as both free virus particles
and virus within infected immune cells.
The four major routes of transmission are
unsafe sex, contaminated needles, breast
milk, and transmission from an infected
mother to her baby at birth (perinatal
transmission). Screening of blood
products for HIV has largely eliminated
transmission through blood transfusions
or infected blood products in the
developed world
IDENTIFY THE EFFECTS OF VIRUSES (E.G., HIV,
INFLUENZA, MEASLES, TMV, FELINE LEUKEMIA,
GENITAL WARTS, SOME HUMAN CANCERS) ON
ORGANISMS

Measles, also known as
morbilli, is an infection of
the respiratory system
caused by a virus,
specifically a paramyxovirus
of the genus Morbillivirus.
Morbilliviruses, like other
paramyxoviruses, are
enveloped, single-stranded,
negative-sense RNA viruses.
Symptoms include fever,
cough, runny nose, red eyes
and a generalized,
maculopapular,
erythematous rash.
IDENTIFY THE EFFECTS OF VIRUSES (E.G., HIV,
INFLUENZA, MEASLES, TMV, FELINE LEUKEMIA,
GENITAL WARTS, SOME HUMAN CANCERS) ON
ORGANISMS

Tobacco mosaic virus (TMV) is
a positive-sense single
stranded RNA virus that
infects plants, especially
tobacco and other members of
the family Solanaceae. The
infection causes characteristic
patterns (mottling and
discoloration) on the leaves
(hence the name). TMV was
the first virus to be discovered.
Although it was known from
the late 19th century that an
infectious disease was
damaging tobacco crops, it was
not until 1930 that the
infectious agent was
determined to be a virus.
IDENTIFY THE EFFECTS OF VIRUSES (E.G., HIV,
INFLUENZA, MEASLES, TMV, FELINE LEUKEMIA,
GENITAL WARTS, SOME HUMAN CANCERS) ON
ORGANISMS

Feline leukemia virus
(FeLV) is a retrovirus that
infects cats. FeLV can be
transmitted between
infected cats when the
transfer of saliva or nasal
secretions is involved. If not
defeated by the animal’s
immune system, the virus
can be lethal. The disease
caused by this virus is a
form of cancer of the blood
cells called lymphocytes (a
leukemia).
IDENTIFY THE EFFECTS OF VIRUSES (E.G., HIV,
INFLUENZA, MEASLES, TMV, FELINE LEUKEMIA,
GENITAL WARTS, SOME HUMAN CANCERS) ON
ORGANISMS


Genital warts (or Condylomata
acuminata, venereal warts, anal
warts and anogenital warts) is a
highly contagious sexually
transmitted disease caused by some
sub-types of human papillomavirus
(HPV). It is spread through direct
skin-to-skin contact during oral,
genital, or anal sex with an infected
partner. Warts are the most easily
recognized symptom of genital
Those infected can still transmit the
virus. Other types of HPV also cause
cervical cancer and probably most
anal cancers, however it is
important to underline that the
types of HPV that cause the
overwhelming majority of genital
warts are not the same as those that
can potentially increase the risk of
genital or anal cancer
IDENTIFY THE EFFECTS OF VIRUSES (E.G., HIV,
INFLUENZA, MEASLES, TMV, FELINE LEUKEMIA,
GENITAL WARTS, SOME HUMAN CANCERS) ON
ORGANISMS
(E.G. MORPHOLOGY, MOTILITY, REPRODUCTION
AND GROWTH, METABOLIC DIVERSITY) OF
PROKARYOTIC ORGANISMS TO THEIR
BEHAVIOR AND IDENTIFICATION

Comparison of the Gram positive
and Gram negative bacterial cell
walls. A, a Gram positive bacterium
has a thick peptidoglycan layer that
contains teichoic and lipoteichoic
acids. B, a Gram negative
bacterium has a thin peptidoglycan
layer and an outer membrane that
contains lipopolysaccharide,
phospholipids, and proteins. The
periplasmic space between the
cytoplasmic and outer membranes
contains transport, degradative,
and cell wasll synthetic proteins.
The outer membrane is joined to
the cytoplasmic membrane at
adhesion points and is attached to
the peptidoglycan by lipoprotein
links.
DIFFERENTIATE BETWEEN THE MAJOR TYPES OF BACTERIAL GENETIC
RECOMBINATION
(I.E., TRANSDUCTION, TRANSFORMATION, AND CONJUGATION)
DIFFERENTIATE BETWEEN THE MAJOR TYPES OF BACTERIAL GENETIC
RECOMBINATION (I.E., TRANSDUCTION, TRANSFORMATION, AND
CONJUGATION)
Download