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BOOC, MARY GRACE TEDLOS

MAED-SCIENCE
Comprehensive Examination
ED SCI 113- Applied Genetics
Summer SY 2020-2021
July 31- August 1, 2021

Direction: Explain you answer in a scholarly manner.

1. Trace the processes of gene action and explain DNA as a molecular basis of
inheritance.

Gene action refers to the way in which certain genes exert their effects
on the body. They could be dominant or recessive, sex-linked, or responsible
for chromosomal abnormalities. The observable phenotype of an organism is
the consequence of a mixture of such gene activities. Gene activities can be
divided into three categories.
First, additive gene action, when one allele of a gene is replaced by
another allele and the result is the same, whether positive or negative, the
activity of the gene is said to be additive. Only if the alleles are not dominant
can this happen (or recessive). The presence of gene B has no effect on the
addition or removal of A in the table below, which adds or subtracts 2 units of
action, respectively.

Second, dominance gene action, a dominance gene action occurs

when a dominant gene (A) is replaced by a recessive gene (a) with no effect, either
positive or negative. When the recessive gene in Aa is replaced by a dominant gene,
no effect is seen in the table below. AA has the same impact as Aa in this model.
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Lastly, the epistatic gene action, the presence or absence of an allele

in one location affects the expression of another allele in a separate locus in this
form of gene action. Epistasis can have an additive or dominating effect. To put it
another way, epistatic action of one gene can entirely conceal the influence of
another gene, or it can completely uncover the effect of a gene that is still active.
The process will be intra allele interaction, which refers to interactions
between alleles of a gene governing a single character that can be dominant, partial
dominance, or co-dominance. Interallelic interaction, also known as epistatic
interaction, happens when distinct pairs of alleles interact to influence a person's
character. The gene that has a masking effect is known as epistatic gene, while the
gene that has its impact hidden is known as hypostatic gene. In F2 generation,
epistasis changes the normal dihybrid or trihybrid segregation ratio.

Therefore, the study of genes, genetic variants, and heredity is part of the
molecular basis of inheritance. It explains why a child's appearance is identical to
that of his or her parents. The molecular basis of inheritance is made up of DNA,
RNA, and genetic code. They pass on genetic genes from one generation to the
next. All of an individual's genetic information is stored in DNA. When it replicates,
each strand produces a daughter strand to which it conveys genetic information. In
this way, it serves as the foundation for inheritance.

2. What are mutations its causes and structural changes? How does this differ
with the abnormalities commonly occurring? Also, give the implications
involve in the mutations. Is there a means to get away from mutations and
abnormalities?

Mutations are variations in the DNA sequence that are a major source
of biological variety. These alterations can occur at a variety of levels and
have a wide range of implications. Mutations happen for several
reasons. First, DNA fails to copy accurately. The majority of the mutations we
believe are important for evolution are "naturally occurring." When a cell splits,
for example, it creates a duplicate of its DNA, which isn't always flawless. A
mutation is a minor deviation from the original DNA sequence. Second,
external influences can create mutations. Exposure to certain chemicals or
radiation can also induce mutations. The DNA is broken down by these
agents. This isn't inherently abnormal; DNA breaks down even in the most
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remote and pristine places. However, when the cell repairs the DNA, it may
not do it perfectly. As a result, the cell's DNA would be slightly different from
the original DNA, resulting in a mutation.

Chromosome structure mutations can be one of four types first,

deletion is where a section of a chromosome is removed. Second,
translocation is where a section of a chromosome is added to another
chromosome that is not its homologous partner. Third, inversion is where a
section of a chromosome is reversed. Lastly, duplication occurs when a
section of a chromosome is added from its homologous partner.

Mutation differs from the chromosomal anomalies because mutation is

a change in our DNA sequence that arises as a consequence of errors in
DNA copying or environmental influences such as UV radiation and cigarette
smoke unlike those chromosomal anomalies. There are many different forms
of chromosomal anomalies, but they can be classified as numerical or
structural. Whole chromosomes are either absent or additional to the usual
pair in numerical anomalies. When a portion of a chromosome is missing,
extra, swapped to another chromosome, or turned upside down, this is
referred to as structural abnormalities. Breakage and improper reconnection
of chromosomal segments causes structural chromosomal defects. Disease is
caused by a variety of structural chromosomal abnormalities. Balanced
structural rearrangements are those in which the entire chromosomal set is
still there, but reorganized, while unbalanced structural rearrangements are
those in which information is added or lost.

Although a single mutation might have a huge effect, evolutionary

change is often dependent on the accumulation of numerous minor changes.
Depending on the context or place, mutational impacts might be helpful,
detrimental, or neutral. The majority of non-neutral mutations are harmful. In
general, the higher the effect of a mutation and the greater the likelihood of
the mutation being harmful, the base pairs affected by the mutation.

Yes, we can get away from mutations and other abnormalities. We can
take the necessary steps to help prevent yourself from getting mutations, and
you can teach your friends and family about the steps they can take in their
daily lives to avoid mutagens. To minimize also mutations, we must restrict
our exposure to these chemicals by working with them while wearing
protective equipment such as masks and gloves. It is really important to
prevent as many mutations as we can, so that we limit the negative effects of
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mutations on our health. Your DNA is such a critical molecule, it is worth

protecting it.

3. Discuss the following application of genetic engineering as applied in

research, medical and its allied field, industry, agriculture and environment.

The study of genetic engineering plays a significant role in the

advancement of discovering new applications that is helpful in the world of
science. The artificial manipulation, modification, and recombination of DNA
or other nucleic acid molecules in order to transform an organism or
population of organisms is referred to as genetic engineering. The term
"genetic engineering" is commonly used to refer to recombinant DNA
technology methods that originated from fundamental microbial genetics
research.

Genetic engineering may be employed on a wide range of plants,

animals, and microbes and has uses in medicine, research, industry, and
agriculture. In order to learn more about the activities of individual genes,
genetically modified organisms are used in study.

In medicine, genetic engineering has been used to mass-produce

insulin, human growth hormones, follistim (an infertility treatment), human
albumin, monoclonal antibodies, antihemophilic factors, vaccinations, and a
variety of other medications.

Transforming microorganisms such as bacteria or yeast, or insect

mammalian cells with a gene coding for a valuable protein, are examples of
industrial uses. The protein can be made in large numbers by fermenting the
altered organism in bioreactors and then purifying the protein.

In agriculture, genetic engineering is utilized to develop genetically

engineered crops or creatures.

Therefore, genetic engineering is actively involved in the development of

microorganisms and biocatalysts for environmental remediation, as well as the
development of environmentally benign methods such as generating recombinant
strains for biofuel production.
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4. Discuss the following developments in applied genetics/ genetics engineering

and its impact among the plants and animals as well as human being. Its
benefits and ethical/ moral implication on the side of human aspects.

a. Cloning
Cloning is a process that allows scientists to create
perfect genetic duplicates of living organisms. Cloning can be
done on genes, cells, organs, and even complete animals.
Gene cloning is a highly regulated method that is widely
acknowledged and employed in many labs throughout the world.
Both reproductive and therapeutic cloning, however, involve
significant ethical concerns, particularly when it comes to the
prospective use of these techniques in people.
Reproductive cloning could result in the creation of a
human who is genetically similar to someone who has lived
before or is presently alive. This could be incompatible with
long-held religious and cultural norms regarding human dignity,
thereby jeopardizing individual freedom, identity, and autonomy.

Some claim, however, that reproductive cloning could assist

sterile couples achieve their goal of becoming parents. Others
see human cloning as a way to avoid passing on a genetically
harmful gene without having to go through embryo screening or
embryo selection.

While therapeutic cloning has the potential to treat human

disease or injury, it would necessitate the destruction of human
embryos in the test tube. As a result, some believe that
collecting embryonic stem cells through this method is unethical,
regardless of whether the cells are used to help sick or
damaged people.

b. Hybridization
Many lineages have benefited from hybridization.
Hybridization is the act or process of mating organisms of
various types or species in order to produce a hybrid. For
example, in reproductive biology, this refers to the act of
creating offspring by mating two parents of different types or
species. It's commonly confused with crossbreeding, which is
described as "the process or act of creating offspring, especially
by mating two purebred individuals of different breeds or
varieties."
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However, when referring to plant progeny, hybrid rather

than crossbreed is preferred. Plant hybridization is essential,
particularly in agriculture, where it is used to create a hybrid crop
that is both hardy and disease-resistant. Ligers and mules are
instances of hybrid animals.

The hybrid populations were not statistically different from

the inbred source populations in terms of viability, and hybrid
populations produced fewer offspring than the big control
population. At both low and high levels of population divergence,
the number of source populations had no meaningful influence.

Even when the populations share identical environmental

conditions, the benefits of interpopulation hybridization may
diminish with growing population divergence, according to the
study. We examine the various genetic pathways that explain
the findings, as well as the consequences for population
conservation.
c. Gene Therapy
Gene therapy is an experimental approach for treating or
preventing disease by using genes. Gene therapy is a technique
that involves inserting genetic material into cells in order to
compensate for faulty genes or produce a good protein. If a
mutant gene causes a required protein to be defective or
absent, gene therapy may be able to restore the protein's
function by introducing a normal copy of the gene. Depending
on the condition, scientists can use gene therapy to perform one
of numerous things. They can swap out a gene that causes a
medical problem for one that doesn't, introduce genes to assist
the body fight or treat sickness, or switch off genes that are
creating issues.
Scientists employ a carrier called a "vector" to carry new
genes straight into cells, which is genetically designed to convey
the gene.
Viruses, for example, have the potential to naturally
transport genetic material into cells and may thus be employed
as vectors. Scientists employ a carrier called a "vector" to carry
new genes straight into cells, which is genetically designed to
convey the gene.
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Viruses, for example, have the potential to naturally

transport genetic material into cells and may thus be employed
as vectors.
Blood, bone marrow, or another tissue can be obtained
from a patient for gene therapy that is used to alter cells outside
of the body, and certain types of cells can be sorted out in the
lab. These cells are given the vector containing the desired
gene. The cells are allowed to proliferate in the lab before being
injected back into the patient, where they will continue to
multiply and deliver the intended result.
Benefits and Impact
There are benefits and impact that can affect the
humans, animals and plants. One of the benefits of this Gene
Therapy is to cure disease or to help your body better fight
disease. It is by first, replacing genes that have been mutated.
Because certain genes function improperly or no longer function
at all, certain cells become sick. Replacement of faulty genes
may aid in the treatment of some illnesses. A gene called p53,
for example, typically inhibits tumor development. Problems with
the p53 gene have been related to a variety of cancers. If
physicians could replace the cancer cells' faulty p53 gene, the
cancer cells may die. Second, repairing genes that have been
mutated. Mutated genes that cause illness might be switched off
to stop promoting disease, or good genes that help prevent
disease could be turned on to stop the disease from spreading.
Lastly, Increasing the visibility of sick cells to the immune
system. Because your immune system doesn't detect sick cells
as intruders in certain circumstances, it doesn't fight them.
Doctors may be able to employ gene therapy to teach your
immune system to detect dangerous cells.
Gene therapy attempts to cure sickness or enhance your
body's capacity to fight disease by replacing a defective gene or
adding a new gene. It really has a big impact to the human race
because gene therapy shows promise in the treatment of
cancer, cystic fibrosis, heart disease, diabetes, hemophilia, and
AIDS, among other illnesses.
When it comes to animals, it clearly shows its impact by
the dog's blood sugar levels were kept at a healthy range after
the gene treatment. The dogs' health was monitored over four
years, with no recurrence of symptoms or negative side effects.
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The findings indicate that gene therapy is effective and safe in

big animals.
In plants, gene function can be elucidated via genetics by
analyzing gene dysfunction. In situ gene alteration, such as
point mutations, deletions, and additions, is required in modern
genetics and genomics.
Gene therapy is important because it is a technique that
involves inserting genetic material into cells in order to
compensate for faulty genes or produce a good protein. If a
mutant gene causes a required protein to be defective or
absent, gene therapy may be able to restore the protein's
function by introducing a normal copy of the gene.

d. Mendelian Inheritance

The inheritance of features controlled by a single gene

with two alleles, one of which may be entirely dominant over the
other, is known as simple (or Mendelian) inheritance. Whether
simple features are governed by genes on autosomes or genes
on sex chromosomes determines the pattern of inheritance.

There is a strong sense that genetic research will

influence everyone in the not-too-distant future, and that
medicine in general is transitioning to "molecular medicine," in
which knowledge of individual genomes will aid in illness
treatment and prevention.

e. Reverse Genetics
Reverse genetics, on the other hand, is a new approach
enabled by recombinant DNA technology that works in the
opposite direction. Reverse genetics begins with a protein or
DNA for which no genetic information exists, then works
backwards to create a mutant gene and a mutant phenotype.
Reverse genetics is a molecular genetics technique that
allows researchers to deduce gene function by looking at
changes in phenotypes (of cells or organisms) induced by
genetically engineering specific nucleic acid sequences (within
DNA or RNA).
Forward genetics examines naturally occurring mutations
as well as mutations produced by radiation or chemicals to
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determine the genetic roots for a specific trait. Individuals with

mutations (cells or organisms) are isolated based on their
phenotype, and their genomes are mapped to link phenotype to
genetics.
In reverse genetics, directed deletions and point
mutations (site-directed mutagenesis) are commonly used to
generate null alleles (non-functional) such as gene knockouts.
On the other hand, it has a wide range of therapeutic
applications, including the development of virus vaccines and/or
the restoration of a viral genome.
In the production of genetically altered cells and
organisms, reverse genetics is critical because it allows
scientists to understand gene function by monitoring changes in
their phenotypes.
In the creation of live attenuated vaccines, reverse
genetics is widely employed to genetically edit virus genomes to
alter their pathogenicity, which has stronger immunogenicity
than typical inactivated vaccines.

5. What role thus the Y and X chromosome plays in the determination of human
phenotype? How does XXT zygote form and why?

Individuals having traits that allow them to be identified as males and

females, arise as a result of sex determination. The presence of a Y
chromosome determines sex in placental mammals. Normally, female cells
have two X chromosomes, while male cells have an X and a Y chromosome.
Individuals with sex chromosomal aneuploidies are occasionally born, and
their sex is always determined by the presence or lack of a Y chromosome.
These genotypes each have their own distinct phenotype. The phenotype of
an organism refers to the traits that may be observed.
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Let me give an example of determining a phenotype:

The sample above was a Pea plants that are true-breeding for the dominant
yellow phenotype are crossed with plants that have the recessive green phenotype
in the P generation. F1 heterozygotes with a yellow phenotype are produced by this
cross. The genotypes of the F2 generation can be predicted using Punnett square
analysis.
Same with humans, the phenotype is simple to determine with the use of
Punnett square and test cross.
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How does XXT zygote form and why?

Klinefelter syndrome, often known as XXY syndrome, is a very common

genetic disease. When a guy is born with an extra sex chromosome in most or all of
his cells, this condition occurs.

Infertility and undersized, poorly functioning testicles are the most common
symptoms. Symptoms are frequently modest, and patients are unaware that they are
being affected. Symptoms may include weaker muscles, increased height, poor
motor coordination, reduced body hair, breast enlargement, and a lack of desire in
sex in some cases. These symptoms are frequently only noticed throughout puberty.

A nondisjunction event during meiosis II in the egg is another way for

preserving the extra chromosome. When sister chromatids on the sex chromosome,
in this case an X and an X, fail to split, nondisjunction occurs. When a XX egg is
fertilized with a Y sperm, a XXY child is generated.

This condition may happen because of the additional X chromosome is nearly

equally distributed between the father and mother. A kid with KS has a slightly higher
chance of being born to an older mother. The condition is defined by the presence of
at least one additional X chromosome in addition to a Y chromosome, totaling 47 or
more chromosomes instead of the usual 46. The genetic test known as a karyotype
is used to diagnose KS.

GINA FE G. ISRAEL, IONNE A. AVELINO, EdD GINA FE G. ISRAEL, EdD

EdD
Faculty Program Coordinator, Graduate School Dean of College