CHAPTER I

INTRODUCTION

A. Background
Genetics , the science of heredity, pursues a precise explanation of
the biological structures and mechanisms that determine inheritance. In
some instances, the relationship between gene and trait is remarkably
simple. A single change in a single gene, for example, results in sickle-cell
anemia, a disease in which the hemoglobin molecule found in red blood
cells is defective. In other instances, the correlations between genes and
traits are bewilderingly complex. An example is the genetic basis of facial
features, in which many genes determine a large number of molecules that
interact to generate the combination we recognize as a friend’s face.
Gregor Mendel a stocky, bespectacled Augustinian monk and expert plant
breeder, discovered the basic principles of genetics in the mid–nineteenth
century. He published his fi ndings in 1866, just seven years after
Darwin’s On the Origin of Species appeared in print.
Mendel lived and worked in Brünn, where he examined the
inheritance of clear-cut alternative traits in pea plants, such as purple
versus white fl owers or yellow versus green seeds. In so doing, he
inferred genetic laws that allowed him to make verifi able predictions
about which traits would appear, disappear and then reappear, and in
which generations. Each of us starts out as a single fertilized eg cell that
develops, by division and differentiation, into a mature adult made up of
10 14 (a hundred trillion) specialized cells capable of carryin out all the
body’s functions and controlling our outwar appearance. Genes, passed
from one generation to the next underlie the formation of every heritable
trait. Such traits ar as diverse as the presence of a cleft in your chin, the
tendency to lose hair as you age, your hair, eye, and skin color, and
eveyour susceptibility to certain cancers. All such traits run in familie in
predictable patterns that impose some possibilities and exclude others. We
 begin our study of genetics with a detailed look at what Mendel’s laws ar
and how they were discovered. In subsequent chapters, we discuss logical
extension mto these laws and describe how Mendel’s successors grounded
the abstract concept of hereditary units (genes) in an actual biological
molecule (DNA).
B. Purpose
1. Find out the modification patterns of crosses of two or more properties
2. Explain the cause of a phenotype resulting from crossing different
from mendel law
C. Benefit
1. Students can find out the modification patterns of crosses of two or
more properties
2. Students can explain cause of a phenotype resulting from crossing
different from mendel law
 CHAPTER II
PREVIEW OF LITERATURE

Each character is determined by one gene, each of which consists of only

two alleles that are fully dominant, while the only one that is recessive. however,
these conditions are not fulfilled by all inherited characters and the relationship
between genotype and phenotype is rarely so modest. mendel himself insists that
he cannot explain patterns that are more complex than he observes in crosses
involving other characters of ercis or other plant species. (Tim Penyusun, 2018).
Mendel’s laws are based on the hypothesis that observable traits are
determined by independent units of inheritance not visible to the naked eye. We
now call these units genes . The concept of the gene continues to change as
research deepens and refi nes our understanding. Today, a gene is recognized as a
region of DNA that encodes a specifi c protein or a particular type of RNA. In the
beginning, however, it was an abstraction—an imagined particle with no physical
features, the function of which was to control a visible trait by an unknown. Four
general themes emerge from our detailed discussion of Mendel’s work. The first
is that variation, as expressed in alternative forms of a trait, is widespread in
nature. This genetic diversity provides the raw material for the continuously
evolving variety of life we see around us. Second, observable variation is essential
for following genes from one generation to the next. Third, variation is not
distributed solely by chance; rather, it is inherited according to genetic laws that
explain why like begets both like and unlike. Dogs beget other dogs—but
hundreds of breeds of dogs are known. Even within a breed, such as Labrador
retrievers, genetic variation exists: Two black dogs could have a litter of black,
brown, and golden puppies. Mendel’s insights help explain why this is so. Fourth,
the laws Mendel discovered about heredity apply equally well to all sexually
reproducing organisms, from protozoan to peas to people. (Hartwel, 2011).
Mendel described and relied on complete dominance in sorting out his
ratios and laws, but it is not the only kind of dominance he observed. Diagrams
two situations in which neither allele of a gene is completely dominant. As the fi
gure shows, crosses between truebreeding strains can produce hybrids with
phenotypes that differ from both parents. We now explain how these phenotypes
arise. A consistent working defi nition of dominance and recessiveness depends
on the F 1 hybrids that arise from a mating between two pure-breeding lines. If a
hybrid is identical to one parent for the trait under consideration, the allele carried
by that parent is deemed dominant to the allele carried by the parent whose trait is
not expressed in the hybrid. If, for example, a mating between a purebreeding
white line and a pure-breeding blue line produces F 1 hybrids that are white, the
white allele of the gene for color is dominant to the blue allele. If the F 1 hybrids
are blue, the blue allele is dominant to the white one. (Hartwel, 2011).
Mendel’s research was aimed at understanding the laws that govern the
inheritance of traits. At that time, scientists did not understand the molecular
composition of the genetic material or its mode of transmission during gamete
formation and fertilization. We now know that the genetic material is composed
of deoxyribonucleic acid (DNA), a component of chromosomes. Each
chromosome contains hundreds or thousands of shorter segments that function as
genes—a term that was originally coined by the Danish botanist Wilhelm
Johannsen in 1909. A gene is defined as a “unit of heredity” that may influence
the outcome of an organism’s traits. Each of the seven characters that Mendel
studied is influenced by a different gene. Most eukaryotic species, such as pea
plants and humans, have their genetic material organized into pairs of
chromosomes. For this reason, eukaryotes have two copies of most genes. These
copies may be the same or they may differ. The term allele refers to different
versions of the same gene. With this modern knowledge, are consistent with the
idea that each parent transmits only one copy of each one allele to each offspring.
A genetic approach can help us understand the relationship between a protein’s
function and its effect on phenotype. Most commonly, a geneticist will try to
identify an individual that has a defective copy of a gene to see how that will
affect the phenotype of the organism. These defective genes are called loss-
offunction alleles , and they provide geneticists with a great amount of
information. Unknowingly, Gregor Mendel had studied seven loss-of-function
alleles among his strains of plants. The recessive characteristics in his pea plants
were due to genes that had been rendered defective by a mutation. Such alleles are
often inherited in. (Brooker, 2012).
A recessive manner, though this is not always the case.How are loss-of-
function alleles informative? In many cases, such alleles provide critical clues
concerning the purpose of the protein’s function within the organism. For
example, we expect the gene affecting flower color (purple versus white) to
encode a protein that is necessary for pigment production. This protei may
function as an enzyme that is necessary for the synthesis of purple pigment.
Furthermore, a reasonable guess is that the white allele is a loss-of-function allele
that is unable to express this protein and therefore cannot make the purple
pigment. To confirm this idea, a biochemist could analyze the petals from purple
and white flowers and try to identify the protein that is defective or missing in the
white petals but functionally active in the purple ones. The identification and
characterization of this protein would provide a molecular explanation for this
phenotypic characteristic. (Broker, 2012 ).
The genotype is the set of alleles that an individual organism possesses. A
diploid organism that possesses two identical alleles is homozygous for that locus.
One that possesses two different alleles is heterozygous for the locus. Another
important term is phenotype, which is the manifestation or appearance of a
characteristic. A phenotype can refer to any type of characteristic—physical,
physiological, biochemical, or behavioral. Thus, the condition of having round
seeds is a phenotype, a body weight of 50 kilograms (50 kg) is a phenotype, and
having sickle-cell anemia is a phenotype. In this book, the term characteristic or
character refers to a general feature such as eye color; the term trait or phenotype
refers to specific manifestations of that feature, such as blue or brown eyes. A
given phenotype arises from a genotype that develops within a particular
environment. The genotype determines the potential for development; it sets
certain limits, or boundaries, on that development. How the phenotype develops
within those limits is determined by the effects of other genes and of
environmental factors, and the balance between these influences varies from
character to character. For some characters, the differences between phenotypes
are determined largely by differences in genotype; in other words, the genetic
limits for that phenotype are narrow. Seed shape in Mendel’s peas is a good
example of a characteristic for which the genetic limits are narrow and the
phenotypic differences are largely genetic. (Pierce, 2010).
Distorted segregation can occur because of statistical bias (genotyping and
scoring errors) or biological factors, such as chromosome loss, gametophytic
competition which lead to preferential transmission of certain alleles; zygotic
selection which is observed in differential survival ability to mature;
incompatibility genes; unilateral incongruity or non homologous recombination;
viability selection of segregating plants; gene transfer; transposable element; and
environmental agents. Strong marker segregation distortion can hamper the
linkage analysis since biased markers can overestimate the recombination
frequency and therefore map distances between markers with skewed segregation
ratios may be inaccurate. (Chaerani, 2015).
The law of separation and free choice law is a law formulated by G. J.
Mendel in 1865. Broadly speaking, the law of Mendel's separation explains that
the existence of a pair of factors controlling each character will separate at the
time of gamete formation. In the law of free choice, Mendel explained that the
factors that determine the characters are different inherited freely from each other
The term factor described by Mendel in the future is known as the gene.
(Fauzi, 2016).
True and pure crosses will produce offspring has a mixture of alleles from
both parents. Information on the purity of the offspring from crosses can be
obtained from DNA fingerprint analysis. One method of DNA analysis used is
Simple Sequence Repeats (SSR) which is known to have the advantage of
obtaining allele information per individual in a population and efficiently to
differentiate offspring and their parents. segregation of offspring alleles is not
based on Mendel's Law I, namely law segregation which states that each pair
Alleles in parents will be inherited to their off spring freely. descent segregation
based on allele information the parents follow the Law of Mendel's Segregation.
There are 3 possible results of purity analysis descent, namely the pattern of
inheritance of offspring with the parents are in accordance with the second
information the parents, segregation of offspring alleles that are not appropriate
with the parent allele. (Faizah, 2017).
Allele transmission through meiosis is generally thought to be fair. One of
the first things nascent geneticists are taught is that Aa heterozygotes pass both
‘big A’ and ‘little a’ to half of their offspring. This rule of heredity was first
recognized by the monk Gregor Mendel and is generally thought to be so rigidly
followed that it is commonly known as Mendel's law of segregation. There is,
however, tremendous evolutionary incentive for alleles to act selfishly and break
this law. If ‘little a’ forces its own transmission to more than half of the gametes,
it could spread to fixation in the population. for example, bias chromosome
segregation to be preferentially transmitted into the female gamete whereas their
competing alleles are lost in the polar bodie. This selfish behaviour is known as
meiotic drive and is widespread in eukaryotes including plants, fungi, insects and
mammals. Although many drive systems have been identified, the actual driving
alleles underlying many meiotic drive systems are unknown. (Hernandez, 2017).
Even in most cases where some or all the genes required for drive are
known, the molecular mechanisms the genes use to enact drive remain
uncharacterized. One factor that has historically limited progress in the field is the
genetic complexity of many identified drive systems. Many drive systems require
multiple genes and the genes are often associated with chromosome inversions.
(Hernandez, 2017).
Transcriptional coregulators that potentially impact thousands of genes, a
number of which are more commonly associated with chromatin regulatory
complexes than sequence-specific transcription factors, which show more
restricted binding. Successive generations of Arabidopsis plants carrying
telomerase (tert) loss-of-function alleles show progressive telomere shortening,
which is perceptible from the first generation on. Until generation 5, shortening in
tert mutants has no phenotypic consequences, but from that point on
developmental aberrations accumulate, resulting in phenotypes. (Zhou, 2018).
 Tensions can be caused by some things, like certain combinations of lethal
genes, presence of linkage incomplete of certain genes, presence of epistasis, and
very large influence of one gene that exceeds the gene others. The direction can be
help us draw conclusions regarding the action of genes against certain characters.
Positive show presence of the action of the epistasis gene complementary to a
character. On positive luck, success selection will be faster achieved with
intensive selection of a character and slower with light selection. Conversely,
negative attachment shows the presence of epistasis gene action duplicative ones.
Under these conditions, faster success with selection light and slower with
selection intensive. (Rosmayati, 2015).
 CHAPTER III
EXPERIMENT METHODOLOGY

A. Date and Place

Day/Date : Thursday, 9th October 2018
Time : 15.50 – 17.30 P.M
Place : Microbiology lab, 2nd floor of Biology Department Faculty of
Mathematics and Natural Science, State University of Makassar
B. Tools and Materials
1. Tools
a. Gamete propeller (1 pair)
b. Pens (1 Fruit)
c. Chi-Square Table (1 Table)
2. Materials
a. HVS Paper (3 Sheets)
b. Used Carton (4 Pieces)
C. Work Procedure
1. Prepare the gamete blades that have been made in unit 3 to collect data.
2. Rotate the gamete propeller 40 times to take the number of observations.
3. Record each data obtained in the observation table.
4. Analysis of data obtained by Chi-Square testing.
 CHAPTER IV
OBSERVATION RESULT AND DISCUSSION

A. Observation Result
Complementary Crosses
P1 CCRR x ccrr
(Colored) (Not Colored)
G CR cr
F1 CcRr
(Colored)
P2 CcRr x CcRr
G CR, Cr, Cr, cr CR, Cr, Cr, cr
F2
Male/Female CR Cr cR cr
CR CCRR CCRr CcRR CcRr
(Colored) (Colored) (Colored) (Colored)

Cr CCRr CCrr CcRr Ccrr

(Colored) (Not (Colored) (Not
Colored) Colored)

cR CcRR CcRr ccRR ccRr

(Colored) (Colored) (Not Colored) (Not
Colored)

cr CcRr Ccrr ccRr Crcr

(Colored) (Not (Not Colored) (Not
Colored) Colored)

Fenotype Rasio 9:7

Data Analysis
Fenotipe Genotipe Observed Expected (O-E)2 (O-E)2
/E.
Colored C_R_ 26 22,5 12,25 0,4711
Not Colored C_rr 4 7,5 12,25 3, 062

Not Colored ccR_ 5 7,5 2,25 0,375

Not Colored ccrr 4 2,5 2,25 0,562

Total 40 40 29 4,4701

X Counting = 4,4701
P = 1-α
P = 1-0,95 = 0,05
X Table = 7,81.
X Table > X Counting
H0: Received when X Table > X Counting
B. Discussion
Mendel I Law is a Law free segregation states that at formation of
gametes (sex cells), both genes parent (Parent) which is an allele pair will
separate so that each gamete receive one gene from its parent. Monohibrid
comes from the word mono and hybrid, mono means one or single
whereas hybrid is the result marriage between two individuals who have
different properties, then monohibrid can be interpreted as a result of
marriage between two individuals who has one different nature or cross
with one different nature. Different nature meant is a pair of properties in
one allele. For example the color of the seeds on the pea seeds, have a pair
of properties namely green and yellow. Mendel's second law is also called
Free pair law or law 3 Free Assortment or Independent Law Assortment. If
the Deed 1 is based on gene segregation (Segregation) then the law.
But in the mendels law there was a false deviation from Mendel's
law.These apparent deviations include Complementary, Atavism,
Epistasis-Hypostasis. Complementery gen it self that in some two-gene
interactions, the four F2 genotypic classe produce fewer than four
observable phenotypes, because some of the phenotypes include two or
more genotypi classes. For example, in the fi rst decade of the twentiet
century, William Bateson conducted a cross between tw lines of pure-
breeding white-fl owered sweet peas Quite unexpectedly, all of the F 1
progeny were purple. Self-pollination of these novel hybrids produced a
ratio of 9 purple : 7 white in the F 2 generation. The explanation? Two
genes work in tandem to produce purple sweet-pea fl owers, and a
dominant allele of both genes must be presen to produce that color.
This time the practicum was tested for false deviation of mendel law
where data retrieval was carried out 40 times. based on the data obtained,
the Xcount value is 4.4701, while the Xtable value is 7.81. So that it is
obtained that X counts <X table. H0 is accepted if the value of X counts <
X table, this indicates that the activity carried out is not in accordance with
the Complementary Theory. Its not accordance with the theory that based
on, (Hartwell, 2011 ) A simple biochemical hypothesis for this type
complementary gene action is shown in Because it takes two enzymes
catalyzing two separate biochemical reactions to change a colorless
precursor int a colorful pigment, only the A– B– genotypic class, which
produces active forms of both required enzymes, can generat colored fl
owers. The other three genotypic classe ( A– bb, aa B–, and aa bb )
become grouped together wit respect to phenotype because they do not
specify functiona forms of one or the other requisite enzyme and thu give
rise to no color, which is the same as white. It I easy to see how the “7”
part of the 9:7 ratio encompasse the 3:3:1 of the 9:3:3:1 ratio of two genes
in action. Th 9:7 ratio is the phenotypic signature of this type of
complementar gene interaction in which the dominant allele of two genes
acting together ( A– B– ) produce color o some other trait, while the other
three genotypic classe ( A– bb, aa B–, and aa bb ). Enzymes specifi ed by
the dominant alleles of two genes are bot necessary to produce pigment.
Further crosses between plants carrying lentils of different colors confi
rmed the two-gene hypothesis. Thus, the 9:3:3:1 phenotypic ratio of brown
to tan to gray to green in an F 2 descended from pure-breeding tan and
pure-breeding gray lentils tells us not only that two genes assorting
independently interact to produce the seed coat color, but also that each
genotypic class (A– B–, A– bb, aa B–, and aa bb ) determines a particular
phenotype.
 CHAPTER V
CLOSING

A. Conclusion
In the crossing process, 40 data retrieval is done by rotating 2
propellers with CcRr genotype so that it can form gametes CR, Cr, Cr, cr with
different opportunities. Mendel's law is the basis of inheritance, but further
research finds that many genes do not conform to Mendel's law. there is a
false deviation from Mendel's law. These apparent deviations include
Complementary, Atavism, Epistasis-Hypostasis. If the comparison of the F2
phenotype resulting from monohibrid and hybridized crosses based on
Mendel's law is 3: 1 and 9: 3: 3: 1, other studies produce different F2
comparisons. In this activity there is a mistake so H0 is accepted where it
means it does not conform to complementary gene theory.
B. Suggestion
In the next practicum, it is expected that the practican can understands the
work procedures so that there will be no more mistakes in practicum activities.
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 RATIFICATION PAGE

Complete Report of Genetics Experiment with the title “Mendels Law

Deviation” which written by:
name : Fatmah Kamaruddin
ID : 1614440002
class : Biology Education of ICP
group : I (one)
After checked and approved by assistant and assistant coordinator, this report
was accepted.

Makassar, October 2018

Assistant Coordinator, Assistant,

Paewa Panennungi, S.Pd Sagita Cahyani

ID.1514441007

Known by,
Responsibility Lecture

Dr. Hartati, S.Si., M.Si., Ph.D

ID. 19740405 200003 2 004