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Principles of Genetics 1: Joy M. Alano, Mat
Principles of Genetics 1: Joy M. Alano, Mat
GENETICS 1
Author
LEARNING OUTCOMES:
At the end of the lesson, you should be able to:
1. state and explain the meaning of genetics, heredity and variation
2. describe the beginnings of genetics through the works of Mendel and other
scientists
3. enumerate related sciences and application of genetics
4. appreciate the contribution of genetics to other fields of study
A. MEANING OF GENETICS
Genetics is defined as the branch of biology that deals with the principles of heredity
and variation in all living things. It deals with the fundamental properties and problems of
life and living, thus impringing on all aspects of biology -biochemistry,
physiology,development,morphology, anatomy, evolution, and ecology. (Ramirez, 1991).
Genetics was derived from the Greek word gen, meaning to become or to grow into
something. The word was coined by William Bateson in 1906.
When characters or traits are passed on from one generation to the next, or from
parents to offspring, this is known as heredity. Children resemble their parents or
grandparents but often siblings obtain variety of characteristics. Differences between
https://www.magnoliabox.com/products
/aristotle-stanza-della-segnatura-
the-school-of-athens-detail-2595631
Gregor Mendel (1822-1884) is known as the “Father of
Genetics”. In 1886, he discovered that hereditary
characteristics were determined by elementary units or
genes transmitted between generations in uniform
predictable fashion.The study of Mendel in garden peas led
to the formulation of the “Principles of Heredity” or
what is now called Mendel’s Law of Inheritance.
https://en.wikipedia.org/wiki/Mendel
ian_inheritance
http://myscienceschool.org/index.php?/archives/1094-Why-is-August-Weismann-considered-
to-be-one-of-the-greatest-biologists-of-all-time.html
https://commons.wikimedia.org/wiki/F
ile:Josef_Gottlieb_Koelreuter_(origi
nal_upload).jpg
https://www.timetoast.com/timelines/
avencos-genetics-6cf63b67-ef5b-42b9-
8109-f1ab49654ebf
1902 Bateson, Sanders, and Cuenot had provided.The
information indicating that Mendel’s principles also applied
to animals.
https://www.khanacademy.org/science/biology/classical-genetics/chromosomal-basis-of-
genetics/a/discovery-of-the-chromosomal-basis-of-inheritance
20th Century - O.T.
Avery, C. M. MacLeod
and M. McCarty
identified the nucleic
acid as the hereditary
material.
http://epgp.inflibnet.ac.in/epgpdata/uploads/epgp_content/S000002BI/P000991/M020195/ET/1
495017589Module-1-Etext_2.pdf
https://www.google.com/search?q=watson+and+crick&source=lnms&tbm=isch&sa=X&ved=2ahUKEwiR
5cW-t8_qAhXE7WEKHer9AnIQ_AUoAXoECA4QAw&biw=1366&bih=657#imgrc=Wgd0XxS3t1aMuM
The scope of genetics may be best appreciated by summarizing the broad problems
it deals with.
From the standpoint of the individual, the development and maintenance of his
own unique, inherent pattern in dynamic interplay with the environment are the
central problems of life.
For the species, the ability to transfer these systems to the other generations is
the primary requirement for continued existence.
For living forms as a whole, the orderly variety of patterns and their changes
with time on a geological scale constitute the accomplishment of organic
evolution.
Plant, animal and microbial improvement through breeding and genetic
engineering is another problem area.
The definition of similarities arid differences in the patterns encountered within
the human species, and of the degrees of plasticity of these systems, are basic
to human understanding and important to human welfare.
D. APPLICATION OF GENETICS
2. Medicine
develop preventive measures for diseases and abnormalities that have
known genetic origin such as diabetes, hemoglobin abnormalities and even forms of
mental deficiencies.
genetic study of disease causing microorganism such as viruses and
bacteria pave way to the development of vaccines
3. Genetic counseling
knowledge of inheritance of certain desirable or undesirable characteristics, as well
as the ancestors of the prospective parents, is used in genetic counseling.
4. Legal applications
Genetics has helped solve problems of disputed parentage. Blood type analyses will
establish parentage of children and clarify questions of illegitimate children, estate
claims or even baby mix-ups in hospitals
5. Genetic engineering
Genetic engineering might be a controversial application of genetics since it has equal
potential for good and evil. Production of organisms that may eventually find use in
food production, medicine and energy production would be as possible as the
production of organisms that would be destructive to almost all living organisms.
https://www.youtube.com/results?search_query=Genetics+Timeline
I. Identification
______________1. This is the branch of biology which deals with the study of
heredity and variation.
______________2. It means the transmission of characters from one generation
to the next, that is from parents to offspring.
______________3. It means the differences between parents and offsprings or
between offsprings of the same parents.
_____________ 4. It is a Greek word which means to become or to grow into
something.
______________5. He coined the term “genetics” in 1906.
_____________ 6.This theory was proposed by Aristotle during the 19th Century.
______________7. He proposed the “Theory of Inheritance of Acquired Characteristics”
_____________ 8. He is known as the “Father of Genetics”.
_____________ 9. This theory explains that germplasm or sex cells perpetuate
themselves in reproduction generation after generation.
_____________10. Scientists who discovered the molecular structure of DNA in 1953.
II.
1. true
2. false
3. true
4. frue
5. true
References:
Video Credit:
Genetics 101. National Geographic Jul 12, 2018
https://www.youtube.com/results?search_query=Genetics+Timeline
A History of Research on Genetics Jan 30, 2017
https://www.youtube.com/results?search_query=Genetics+Timeline
INTRODUCTION
All living organisms here on Earth share common features which are necessary
for their continuous existence including growth, maturation, and reproduction. The cell is
the basic unit of life that helps attain the functions and structures of different organisms
(De La Peṅa, 2016).
The cell was discovered in cork cells by Robert Hooke in 1665. Cells vary in size,
shape, and function, yet have common cell structures. The cells of complex plants and
animals differ in several ways, although their basic structure is the same.
The invention of the microscope led to many advances in the study of science. By
the 1830s many biologists were using the microscope as their chief investigative tool.
Three of these advances were especially important in building one of the key theories in
biology:
* Matthias Schleiden – a botanist who found out that plants are made up of cells.
In 1838, Schleiden made a generalization that all plants are made up of cells.
* Theodore Schwann – about the same time he studied animals and made him
generalize that all animals are made of cells. He further proposed that all organisms are
made up of cell.
Today, we have what we call as the “Modern Cell Theory” which contains
four statements:
1. The cell contains hereditary information (DNA) which is pass on from cell to
cell during cell division.
2. All cells are basically the same in chemical composition and metabolic
activities.
3. All basic chemical and physiological functions are carried out inside the cells.
4. Cell activity depends on the activities of sub-cellular structures within the cell.
Historically, the cell theory has provided direction for the many work of
many biologists and physicians as they study life processes, genetics and diseases.
Table 1
Organelles Present in the Cytoplasm
c. Golgi apparatus flattened smooth–surfaced site for the processing and packaging of
sacs stacked one on top of the cell secretions/products (ex. proteins)
other.
3. Nucleus
The nucleus is a specialized spherical central mass of protoplasm considered as
one of the most conspicuous structural areas of the cell. The nucleus play the central role
in controlling and directing both biochemical reactions that occur in the cell and
reproduction of the cell. It also plays a crucial part in determining the way the cell will
develop, and what form it will exhibit at its maturity.
The nucleus has the following parts:
a. Nuclear Membrane
This structure surrounds the nucleus, separating it from the adjacent cytoplasm and
forming a controlled avenue for the continuous interchange of materials between
them.
b. Nucleoplasm
This is the fluid portion of the nucleus in which other structures are found.
b.1 Nucleolus – one or more deeply stained spherical bodies containing RNA. The
nucleolus is responsible for manufacturing and exporting ribosomes – the
precursors of the particles- to the cytoplasm in which proteins will be synthesized.
b.2 Chromosomes –these are elongated, thread-like bodies which are clearly
visible only when the cell is undergoing division. They are composed of
deoxyribonucleic acid (DNA) and protein, and bear in linear arrangement of the
basic units of heredity called genes, which are composed of DNA. Genes are
passed on from generation to generation in cells and thus determine the
TYPES OF CELL
Bacterial Cell
Source:http://www.prism.gatech
Eukaryotic cell – contain subcellular structures
.edu/~gh19/b1510/bactcell.jpg enclosed by a membrane that separates them from the
surrounding cytoplasm. All cells, except bacteria and
cyanobacteria, are eukaryotic. They contain many organelles
and have cytoskeletons which serve as an internal framework
for organizing organelles and ribosomes.
Plant Cell
Source: http://waynesword.palomar.
edu/lmexer1a.htm
Animal Cell
Source: http://waynesword.palomar.
THE GENETIC MATERIAL edu/lmexer1a.htm
All cells have the capability to give rise to new cells and the encoded information
in a living cell is passed from one generation to another. The information encoding
material is the genetic or hereditary material of the cell.
A. PROKARYOTIC GENOME
Bacterial Chromosome -is a closed-circular DNA which is about 4.6 million
base pairs in E. coli. The DNA is located in the nucleiod region. In normal growth
this genetic material is being replicated continuously. This bacterial DNA is also
reported to be wrapped around non-specific DNA-binding proteins (histone-like
and non-histone-like). Several strains of bacteria possess extrachromosomal DNA
called PLASMID
PLASMID – are closed circular DNA that are much smaller than the genomic
DNA. Plasmid usually contains genes that confer selective advantage to the
organism and were later used in recombinant DNA work.
GENOME OF VIRUS
What is a virus? Do you know what a virus look like?
Viruses are sub-microscopic, obligate intracellular parasites. They can be
considered living organisms because they can reproduce and possess
characteristics that can be inherited. They can produce only inside another living
host cell and they cannot generate their own organic molecule. They do not grow
nor divide but they are “assembled”. Viruses use the machinery of the host cell to
synthesize nucleic acids and proteins. Outside a living host cell, viruses are
considered “non-living”. The virus particle is typically composed of the genomic
nucleic acid and coat protein but may lipid membrane and other components.
B. EUKARYOTIC GENOME
A eukaryotic cell has genetic material in the form of genomic DNA enclosed
within the nucleus, Genes or the hereditary units are located on the chromosomes
which exist as chromatin network in the non-dividing cell called interphase.
In early 1880’s, Walter Flemming, a German biologist, revealed that during cell
division the nuclear material organize themselves into visible thread like structures which
were names as chromosomes.
The term chromosome was coined by W. Waldeyer in 1888. Chrome is coloured
and soma is body, hence they mean “colored bodies” and can be defined as higher order
organized arrangement of DNA and proteins.
Chromosomes are tightly coiled DNA around basic histone proteins, which help in
the tight packing of DNA. During interphase, the DNA is not tightly coiled into
chromosomes, but exists as chromatin.
There are normally two copies of each chromosome present in every somatic cell.
The number of unique chromosome (N) in such a cell is known as its haploid number,
and the total number of chromosomes (2N) is its diploid number. The suffix “ploid” refers
to chromosome “sets”. In Eukaryotes other than the nucleus chromosomes are present
in mitochondria and chloroplast too. The number of chromosomes in each somatic cell is
same for all members of a given species.
https://alevelbiology.co.uk/notes/chromosome
s-introduction-structure-types/
Cells go through phases. The sequence of phases in the life cycle of a cell is
called the cell cycle. The cell cycle is the period from the beginning of the next cell
division. The cell cycle has two parts: growth and preparation (interphase) and cell
division.
Cell division allows an organism to grow, repair itself and reproduce. From being
unicellular in the form of zygote during fertilization, a complex organism can become
multicellular because of cell division. Tissues that are damaged can be replaced by new
cells. Species can propagate because of this process.
Cell division can be simply defined as the splitting of one cell into two cells. Since,
complex organisms have two types of cells in the body: the somatic or body cells and the
reproductive cells, the gametes or sex cells, there are also two types of cell division,
mitosis and meiosis.
Growth 1 (G1) phase - cell synthesizes proteins, including the enzymes and
structural proteins it will need for growth. In G1 stage each of the 46 human
chromosomes consists of a single (very long) molecule of DNA .
Synthesis (S) phase - the genetic material is replicated, each of its chromosomes
duplicates. The cell is still diploid, however, because it still contains the same
number of centromeres. However, the identical sister chromatids are in the
chromatin form because spiralization and condensation into denser chromosomes
have not taken place yet. It will take place in prophase I in meiosis.
Growth 2 (G2) phase -The cell continues to grow making the cell larger.
STAGES OF MITOSIS
METAPHASE
ANAPHASE
During telophase new nuclear envelopes form around the two
groups of daughter chromosomes (as they are now called), the
new nucleoli begin to appear, and eventually, as the formation
of the two daughter nuclei is completed, the spindle fibers
disappear. The chromosomes uncoil to assume their dispersed
distribution within the interphase nucleus. Cytokinesis, which
may begin before or after mitosis is completed, finally separates
the daughter nuclei into two new individual daughter cells.
TELOPHASE
Source: http://education.yahoo.com/reference/encyclopedia/entry/mitosis
2. MEIOSIS
Meiosis is defined as the division of sex cells which results in formation of haploid
number of chromosomes in sperm of male and egg cell of female. It involves two stages
of cell division, Meiosis I and Meiosis II. The substages are similar to the stages of mitosis
except for the prophase in meiosis I where there is an exchange of genetic materials
between two parents.
Meiosis I
1. Prophase I- is prolonged and characterized by the following substages:
a) Leptotene - chromosomes can be recognized as long and thin filaments characterized
by bead-like thickenings, the chromomeres.
b) Zygotene - homologous chromosomes synapse or pair intimately with each other
c) Pachytene - is characterized by the contraction of chromosome resulting in shorter
and thicker filaments. Pairing is complete and the homologous chromosome and
form four chromatids called tetrad. Each homologous chromosomes cross over
to exchange genetic material at this stage.
4. Telophase I -The first meiotic division effectively ends when the centromeres arrive at
the poles. Each daughter cell now has half the number of chromosomes but each
chromosome consists of a pair of chromatids.. The microtubules that make up
the spindle network disappear, and a new nuclear membrane surrounds each
haploid set. The chromosomes uncoil back into chromatin. Cytokinesis, the
pinching of the cell membrane in animal cells or the formation of the cell wall in
plant cells, occurs, completing the creation of two daughter cells.
1. Prophase II – differs from mitotic prophase in that only half of the diploid
chromosome number is present.
3. Anaphase II - The centromeres are cleaved, allowing the kinetochores to pull the
sister chromatids apart. The sister chromatids by convention are now called
sister chromosomes, and they are pulled toward opposing poles.
III. Identification
______________1. It is basic structural and functional unit of all living things
______________2. He discovered the cell in 1665.
______________3. The botanist who states that all plants are made up of cells.
______________4. This kind of cell lacks membrane-bound subcellular structures
______________5. Plants, animals and fungi have this kind of cell in their body.
______________6. These are elongated, thread- like bodies that carries the hereditary
material of the organism.
______________7. The spherical body inside the cell where the chromosomes are
located.
______________8. The scientist who discovered the chromosome.
______________9. It is simply defined as the splitting of one cell into two cells.
______________10. A type of cell division that is responsible for growth and repair of
damage tissue.
Cell Division
II.
Mitosis Meiosis
Metaphase
Anaphase Metaphase I
II
Telophase I Telophase II
Submit this assignment handwritten in a short bond paper (refer to your course guide for
the schedule)
References:
http://waynesword.palomar. edu/lmexer1a.htm
https://alevelbiology.co.uk/notes/chromosomes-introduction-structure-types/
Thomas Splettstoesser [CC BY-SA 4.0 (https://creativecommons.org/licenses/by-
sa/4.0)]
https://creativecommons.org/licenses/by-sa/4.0)]
Video Credits:
LEARNING OUTCOMES:
At the end of the lesson, the you should be able to:
1. describe Mendel’s experiments and the principles of heredity derived.
2. define genetic terminologies
3. describe non-Mendelian inheritance
4. solve genetic problems using different methods
Genetics Terminology:
3. Law of Independent Assortment – it states that if two traits are cross together, these
two traits will be passed on the offsprings independent of one another.
Subsequently, Mendel experimented with pure-line plants that differed in two
(dihybrid) or more (multihybrid) hereditary characters.
When he crossed a pure-line plant with two distinct heritable characteristics,
smooth yellow seeds, with a pure-line variety with the contrasting traits of wrinkled and
green seeds, all F1 had smooth and yellow seeds, indicating that smooth (S) and yellow
(Y) were dominant characters. When the F1 were self-pollinated, all the possible
combinations of the parental characters were observed with definite proportions of 9/16
smooth and yellow (SY), 3/6 smooth and green (Sy), 3/16 wrinkled and yellow (sY), and
1/16 wrinkled and green (sy). Mendel’s conclusion, embodied in his second law id: “when
two or more characters are inherited independently of one another, the offsprings
produced are the results of random assortment of the hereditary factors in the gametes
and subsequent recombination of these during fertilization”.
The Punnet square below illustrates all the possible F2 genotypic combinations from the
fusion of the 4 kinds each of male and female gametes.
Father gametes
SY Sy sY sy
NON-MENDELIAN INHERITANCE
A. Dominance Relationships
F1 : Rr (Pink)
2. Overdominance
Another example:
M-N blood types in man. Three general classification of humans based on the
agglutination characteristics of the red blood cells.
M MM M Anti-N
N NN N Anti-M
MN MN M;N none
B. Multiple alleles - In which a population has more than two alleles in it--e.g. ABO blood
groups in humans, in which there are three possible alleles (A, B, and O.)
C. Polygenic inheritance - More than one gene affecting a trait, this is quite common.
Most traits in humans are polygenic, especially the more complex ones such as weight,
height, IQ, personality, etc. Skin color is probably determined by five genes, each with
two alleles, giving nine possible phenotypes. Note: skin color is also environmental-
determined (phenotype is plastic.)
D. Phenotypic plasticity - The case when the phenotype that develops is affected by
the environment. This is also very common (skin color, weight, height, personality traits,
IQ in humans are examples.)
F. Sex-linked inheritance - For those genes on the "X" chromosome, the pattern of
inheritance is different for males than females. E.g. for a recessive trait to show up, a
female (XX) must have two copies of that allele, while a male (XY) needs to only have
one. So for X-linked traits such as red/green color blindedness, hemophilia, etc., human
males have the recessive condition much more commonly than females.
G. Lethal allele – The yellow coat colour in mice is due to the presence of the gene which
is also responsible for killing the mouse born with that gene. Such genes are termed lethal
genes. Some lethal genes kill only in the homozygous condition and are recessive lethals.
Dominant lethals cause death even when present in the heterozygous condition.
The alleles that are masking the effect are called epistatic alleles
The alleles whose effect is being masked are called the hypostatic alleles.
Examples of Epistasis
1. Recessive epistasis - occurs when the phenotype of one locus masks, or prevents,
the phenotype of another locus. Thus, following a dihybrid cross fewer than the
typical four phenotypic classes will be observed with epistasis. There are four
phenotypic classes among the progeny of a dihybrid cross. The four phenotypic
classes correspond to the genotypes: A_B_, A_bb, aaB_, and aabb. If either of the
singly homozygous recessive genotypes (i.e. A_bb or aaB_) has the same
phenotype as the double homozygous recessive ( aabb), then a 9:3:4 phenotypic
ratio will be obtained.
2. Dominant epistasis -In some cases, a dominant allele at one locus may mask the
phenotype of a second locus. This is called dominant epistasis, which produces
a segregation ratio such as 12:3:1, which can be viewed as a modification of the
9:3:3:1 ratio in which the A_B_ class is combined with one of the other genotypic
classes that contains a dominant allele. One of the best known examples of a 12:3:1
segregation ratio is fruit color in some types of squash . Alleles of a locus that we
will call B produce either yellow (B_) or green (bb) fruit. However, in the presence
of a dominant allele at a second locus that we call A, no pigment is produced at all,
4. Complementary gene action -The progeny of a dihybrid cross may produce just two
phenotypic classes, in an approximately 9:7 ratio. An interpretation of this ratio is
that the loss of function of either A or B gene function has the same phenotype as
the loss of function of both genes, due to complementary gene action (meaning
that the functions of both genes work together to produce a final product).
1. The Punnet Square Method – this was invented by the British geneticist R. C.
Punnett. By using a table, gametes are combine systematically to predict the
possible combination of gametes.
b. The Rule of Addition – states that the probability that any one or more
exclusive events will occur is calculated by adding together their individual
probabilities. The rule of addition can be used to figure out the probability that
an F2 plant from a monohybrid cross will be heterozygous rather than
homozygous.
Mendelian Inheritance
Non-mendelian Inheritance
A. Incomplete Dominance ( 5 pts)
A man crosses two pink-flowered four o’clock and obtain seeds which grow into
plants bearing the following colors: 24 red, 53 pink, and 26 white. From these
results, indicate how these colors are inherited and show a diagram of the cross.
Get the results for the F1 and F2 generation.
P1 : PP x pp
I.
1. Law of Segregation
2. Law of Dominance
3. Law of Independent Assortment
4. Gene
5. Allele
6. Recessive
7. Phenotype
8. Homozygous
9. Dihybrid cross
10. F1
11. Multiple alleles
12. Codominance
13. Polygenic inheritance
14. Lethal gene
15. Epistatic gene
II.
Mendelian Inheritance
A. Monohybrid Cross (5 pts)
WW=white ; ww=gray
P1 : WW x ww
W x w
F1: Ww (white feather color)
P2: Ww x Ww
F2: W w
W WW Ww
Ww ww
w
P1 : SSYY x ssyy
SY x sy
F1 : SsYy (spherical yellow seeds)
P2: SsYy x SsY
F2 : S s Y y
SS Ss YY Yy
S Y
Ss ss Yy yy
s Y
P1 : PP x pp
F1 : Pp (pink)
P2 : Pp x Pp
F2 :
P p
PP Pp
P G.R. 1 PP (red); 2Pp (pink); 1 pp (white)
Pp pp
p
RR Rr
CC Cc
C R
c r Rr rr
Cc cc
Video Credits:
Mendelian Genetics and Punnet Square
https://www.youtube.com/watch?v=3f_eisNPpnc&t=58s
Incomplete and codominance
https://www.youtube.com/watch?v=9Bkc7SGVwqI