Lê Hà Phương Ly - BTBTIU21220

1.
SCHOOL OF BIOTECHNOLOGY – THE INTERNATIONAL UNIVERSITY – VIETNAM NATIONAL UNIVERSITY – HCMC STUDENT ID:………………………………………………………
MIDTERM EXAMINATION – BIOLOGY

Date: Dec 9, 2021 (Thursday)
Room Number:
Duration: 90 minutes
Student ID: BTBTIU21220 Name: Lê Hà Phương Ly
SUBJECT: BIOLOGY (BT155IU)

Dean of School of Biotechnology Lecturer Proctor Score
Signature: Signature:
Full name: Full name:

BÙI HỒNG THỦY (Sign and write
full name)
GENERAL INSTRUCTION(S)
1. This is opened book test

2. No talking during the exam
GOOD LUCK!
Answer on the question sheets:
1) Describe the structure and roles of the extracellular matrix in animal cells? Then, discuss about
the role of the extracellular matrix in Tissue Regeneration. (20 points)
Structure: Most animal cells secrete substances into the
extracellular space, forming a complex network of
proteins and carbohydrates, known as the extracellular
matrix (ECM).
Collagen is a substantial component of the ECM (The
most abundant glycoprotein in most animals). Collagen is
carbohydrate-modified, and once liberated from the cell, it
forms long fibers called collagen fibrils.
Collagen fibers are interwoven in the EMC by a family
of carbohydrate-containing protein molecules known as
proteoglycans, which may be connected to a lengthy
polysaccharide backbone.
The extracellular matrix (ECM) works as an adhesive

that keeps all the cells of tissue in place. Collagen is a
fibrillar protein found in the ECM and serves as
structural support for the tissue's cells.
The extracellular matrix is responsible for the formation of a few distinct structures, including cartilage,
tendons, and the basement membrane (also called the basal lamina). Not only does it act as a physical
structure, but it also acts as a route for cell movement and communication through the usage of signaling
chemicals. When a molecule inside a matrix binds a receptor, conformational changes occur that involve
chemical signals and eventually alter cell activity. The ECM may exert control over a cell's activity by
interacting with it through integrins.
Blood clotting is one example of the extracellular matrix's function in cell communication. When the
cells that line a blood vessel are injured, they express a protein receptor known as tissue factor. When a
2. SCHOOL OF BIOTECHNOLOGY – THE INTERNATIONAL UNIVERSITY – VIETNAM NATIONAL UNIVERSITY – HCMC STUDENT ID:………………………………………………………
tissue factor interacts with another factor in the extracellular matrix, platelets stick to the injured blood
vessel wall and activate the surrounding smooth muscle cells in the blood vessel to contract (thus
constricting the blood vessel). Following that, a sequence of actions is launched, which causes the
platelets to create clotting factors.
Additionally, it encompasses a diverse array of growth and differentiation factors that regulate and
impact the development, migration, proliferation, morphology, and metabolic capabilities of cells.
2) Briefly explain the role of mitochondria and chloroplasts. Then, present your knowledge about
Mitochondrial Replacement Therapy (MRT) for treatment of Mitochondrial Diseases. (20
points)
Mitochondria are a membrane-bound organelle
found in most eukaryotic cells' cytoplasm. The
quantity of mitochondria in a cell is related to its
metabolic activity.
The most prominent role of mitochondria is
oxidative phosphorylation, which generates energy
(ATP) by utilizing the energy released during the
oxidation of the food consumed.
Mitochondria have a plethora of roles in
metabolism, even in anaerobic organisms, and do
not use mitochondria for ATP synthesis:
 In carbon metabolism: Carbon skeletons are
provided for the formation of most
biomolecules, including glucose, fatty acids,
and amino acids.
 In nitrogen metabolism: glutamate for transamination processes and glutamine to transport nitrogen
throughout the body, as well as half of the urea cycle reactions.
 They are also crucial in the synthesis of haem and iron-sulfur clusters.
 Mitochondrial antiviral signaling protein (MAVS) plays a key role in the innate response to viral
infections, helping to induce antiviral and anti-inflammatory pathways.
 Mitochondria are also a role in programmed cell death and renewal (autophagy)
 Calcium Homeostasis: Mitochondrial calcium exchange refers to the movement of calcium into and
out of a cell's mitochondria, which is a crucial process in metabolic regulation and cell death.
 Stem Cell Regulation: Mitochondria are thought to play crucial roles in pluripotency maintenance,
differentiation, and reprogramming of induced pluripotent stem cells.
Chloroplasts: are found in leaves and other green organs of plants that include enzymes & green pigments
chlorophyll for Photosynthesis. They are also a member of the plastid family.
- Photosynthesis is the primary function of chloroplasts in which light energy is converted to chemical
energy (use ATP and NADPH to make CO2
molecules according to the Calvin cycle).
- Plant Innate Immune Response: generating
defense-signaling chemicals such as salicylic
acid, jasmonic acid, nitric oxide, and reactive
oxygen species.
- Amino acid synthesis in the stroma
- Purine and pyrimidine synthesis
- The major site of fatty acid synthesis
Mitochondrial Replacement Therapy (MRT) for
treatment of Mitochondrial Diseases:
When patients or carriers wish to have their own
genetically related child in order to eliminate the risk of
disease development, reproductive options become more limited to genetic testing or correction of the
causative mutation in gametes or early embryos, a procedure known as germline gene therapy. Unlike
somatic gene therapy, which affects just one person, the result of germline gene therapy is mirrored in the
patient's complete body as well as in their offspring through their germline. Thus, regardless of whether the
result is beneficial or detrimental, this sort of change would be passed on to their children, similar to the
case with inherited disorders produced by germline mutations.
However, if the procedures used are safe and successful, and the necessary degree of information and
support is provided, the therapy may be regarded as helpful for impacted families.
Recently, some nuclear transfer procedures, also known as mitochondrial replacement therapy (MRT), have
been proposed as a possible germline gene treatment for inherited mitochondrial illnesses. This approach
utilizes an enucleated donor embryo as a cytoplasmic habitat for the nuclei of parent germ cells, preventing
mitochondria from the parent cells from being transmitted.
Currently, three basic methods exist for completing this monumental task: metaphase II spindle-
chromosome complex (MII-SCC) transfer, pronuclear (PN) transfer, and germinal vesicular (GV) transfer.
MII-SCC transfer involves the progression of the mature oocyte-bearing mutant mtDNA to metaphase II,
where the chromosomal material is organized along with the metaphase plate. It may then be extracted and
placed into a healthy donor oocyte that has been enucleated.
The pronuclei, or the nuclei of the sperm and egg before they fuse within the oocyte, are taken from the
parent zygote and inserted in a donor zygote that has been fertilized and then enucleated.
GV transfer occurs during the stalled prophase of meiosis I when each of the 23 chromosomal pairs has two
copies. Due to the huge size of the nucleus at this stage, laboratory harvesting is easy. Before fertilization,
the rebuilt oocyte is developed in vitro. In vitro maturation of the oocyte enables the monitoring of meiotic
defects. This may be especially beneficial for women of advanced maternal age, who are believed to have
lower conception rates as a result of aneuploidy, or an uneven distribution of chromosomes during meiosis
II.
3) List the phases of mitosis and describe the events characteristic of each phase. Then comparing
mitosis and meiosis. (20 points)
Mitosis occurs during the Mitotic (M) phase of the cell cycle and is often followed by cytokinesis.
Mitosis is split into five phases: prophase, prometaphase, metaphase, anaphase, and telophase. Mitosis
occurs when duplicated chromosomes split, resulting in identical daughter nuclei with the same number of
chromosomes and genetic makeup as their parents. Mitosis begins with prophase, when the chromatin fibers
become more tightly coiled, condensing into discrete chromosomes. Each chromosome is composed of two
sister chromatids (duplicated during the S phase) that are then held together by their centromeres, a DNA
sequence to which proteins bind to form the kinetochore—the eventual attachment site for the spindle
microtubules. At this phase, the mitotic spindle begins to form. It is composed of centrosomes and the
microtubules that surround them. Prophase, in conjunction with chromosomal condensation, commences the
cytoplasmic changes required for the formation of the mitotic spindle. Centrosomes split and move to the
nucleus's opposing sides. They serve as the two poles of the mitotic spindle during the late prophase. After
prophase, the cell enters prometaphase, a transitional state between prophase and metaphase. During
prometaphase, the mitotic spindle's microtubules associate with the kinetochores of condensed
chromosomes. The kinetochores of sister chromatids are located on different sides of the chromosome,
enabling them to interact with microtubules emanating from opposite spindle poles. Sister chromatids'
kinetochores are positioned on opposing sides of the chromosome, allowing them to bind to microtubules
coming from opposite spindle poles. The chromosomes shuffle back and forth until they reach the
metaphase plate in the spindle's core. The cell has entered metaphase at this point. The kinetochores of sister
chromatids are coupled to kinetochore microtubules that arise from opposing poles for each chromosome.
The chromosomes are in their most condensed state at this phase. The bulk of cells stays in metaphase for a
short period before entering anaphase. Anaphase, the shortest stage of mitosis, begins with the cleavage of
the cohesin proteins, allowing the sister chromatids of each pair to suddenly split at the centromere. Thus,
each chromatid migrates to the opposite poles of the spindle and matures into a complete chromosome.
Telophase is the last step of mitosis. It is at this stage that nuclei re-form and chromosomes condense.
Mitosis has now completed the division of a single nucleus into two genetically identical nuclei.
The comparison between mitosis and meiosis:
Mitosis and meiosis, both of which are processes of nucleus division in eukaryotic cells, have certain
similarities but also display significant distinctions that result in dramatically different outcomes. Mitosis is
a single nuclear division that leads to the formation of two nuclei, which are typically divided into two new
cells. Mitotic nuclei are genetically identical to the original. They both have the same number of
chromosomes: one in haploid cells and two in diploid cells. Meiosis, on the other hand, is two nuclear
divisions that result in the formation of four nuclei, which are often partitioned into four new cells. Meiotic
nuclei are never genetically identical, and they contain just one chromosome set—half the number of the
original diploid cell.
The differences in the results of meiosis and mitosis are due to the chromosomes' activity throughout each
step. The majority of these distinctions occur during meiosis I, which is a totally different kind of nuclear
division than mitosis. During meiosis I, homologous chromosome pairs become connected, are bonded
together, undergo chiasmata and crossover between sister chromatids, and line up in tetrads along with the
metaphase plate, with spindle fibers from opposing spindle poles attaching to each homolog's kinetochore.
All of these events take place only during meiosis I and never during mitosis.
During meiosis I, homologous chromosomes migrate to opposing poles, reducing the number of
chromosomal sets in each future nucleus from two to one. Meiosis I is hence referred to as a reduction
division. Mitosis does not result in such a decrease in ploidy.
Meiosis II is far more akin to a mitotic division. In this situation, duplicated chromosomes (just one set)
align at the cell's center, with split kinetochores connected to opposite pole spindle fibers. Anaphase II, like
mitotic anaphase, involves the division of the kinetochores and the attraction of one sister chromatid to one
pole and the other sister chromatid to the opposite pole. Without crossovers, the two products of each
meiosis II division would be identical to those produced during mitosis; nevertheless, they are distinct
because there has always been at least one crossover per chromosome. Meiosis II is not a reduction division
because, although the resultant cells contain fewer copies of the genome, they retain the same number of
chromosomes as after meiosis I.
Mitotic cells will work in many sections of the body as part of the growth process or replace dead or
damaged cells. In certain creatures, they may even be engaged in asexual reproduction. In a diploid-
dominant creature, such as an animal, meiotic cells will exclusively engage in sexual reproduction.
4) Explain how carrier recognition, fetal testing, and newborn screening can be used in genetic
screening and counseling. What is Preimplantation Genetic Diagnosis (PGD)? Please describe
the methods, indications, and applications of PGD (20 points).
Simple Mendelian diseases may be prevented if the risk of developing a specific genetic condition can be
identified before fertilization or during the early stages of pregnancy. Numerous hospitals provide genetic
counselors who may assist potential parents worried about a family history of a particular illness. Carrier
recognition, Fetal and newborn testing can also reveal genetic disorders.
Carrier recognition: is a term that refers to genetic testing done on a person who does not show any overt
phenotypes linked with a genetic condition but may have one variant allele within genes connected with a
diagnosis.
Carrier screening highlights the need for education and counseling both before and during testing. The
majority of children born with recessive diseases have normal phenotypes. The best approach to correctly
determining a prospective parent's genetic risk for a specific illness is to determine whether they are
heterozygous carriers of the recessive allele. There are already tests available for a growing range of
heritable illnesses. These tests for carrier status enable persons with a family history of genetic disorders
such as Tay-Sachs disease, sickle-cell disease,... to manage their reproductive lives more effectively, even
by avoiding pregnancy. Prenatal diagnosis may provide reassurance along with information for selective
abortion choices if the fetus is confirmed to be at high risk for a diagnosable genetic disease or for preparing
for the birth of an afflicted kid. Before a person decides to undergo carrier testing, education and counseling
are required to inform them about the test and the significance of gaining this knowledge. If a person is
tested and is determined to be a carrier, counseling is also necessary after the test. In prenatal diagnostics,
when safety requires only a limited time to determine whether to be tested and to make decisions about
whether to terminate or bring to term a pregnancy if a genetic abnormality is detected in the fetus, the most
time-urgent of such decisions generally revolve on reproduction.
Fetal Testing
Detecting chromosomal abnormalities in the fetus, such as Down Syndrome, may be done using
amniocentesis. Amniocentesis is most often used for prenatal genetic investigations like these.
Assume a couple is expecting their first child and finds that both partners have the Tay-Sachs gene. Tests
and an amniocentesis procedure, conducted in the 14th–16th week of pregnancy, may detect whether a
growing baby has Tay-Sachs disease. A physician inserts a needle into the uterus and collects around 10 mL
of amniotic fluid during this procedure. The presence of particular chemicals in the amniotic fluid may
indicate certain genetic abnormalities.
Another method is called chorionic villus sampling (CVS), which involves inserting a short tube through
the cervix into the uterus to take out a tiny sample of placenta tissue, the organ that transports nutrition and
fetal wastes between the fetus and the mother. The cells of the placenta's chorionic villi, the section
sampled, are generated from the fetus and share the new individual's genotype and DNA sequence. These
cells proliferate quickly enough to allow for instant karyotyping. This quick test is preferable to
amniocentesis, which requires cells to be grown for many weeks before karyotyping. Additionally, CVS
may be conducted as early as the eighth–tenth week of pregnancy.
Furthermore, medical researchers have discovered techniques to collect fetal cells, or even fetal DNA, that
have escaped into the mother's blood. Although only a few cells are present, they may be cultivated and
evaluated, as well as the fetal DNA assessed.
Imaging technology enables doctors to evaluate a fetus directly for significant anatomical defects that may
not be detected via genetic testing. Through a simple noninvasive method, ultrasonography uses reflected
sound waves to create a picture of the baby. Fetoscopy involves inserting a needle-thin tube into the uterus
that contains a viewing scope and fiber optics (to deliver light). While ultrasound and isolating fetal cells or
DNA from maternal blood provide no danger to mother or baby, the other techniques may result in
difficulties in a small percentage of instances.
Because of the higher likelihood of having a child with Down syndrome in women over 35, amniocentesis
or CVS diagnostic testing is routinely provided to these women, and may also be administered to younger
women if there are known concerns.
Newborn Screening
Newborn screening (NBS) is sometimes referred to as the "baby's first test." Babies need screening within
their first few days of birth since some disorders detected during screening require immediate treatment or
intervention. NBS occurs after delivery, often between 24 and 48 hours (1 and 2 days) following birth. If a
newborn is tested before 24 hours, he or she may need retesting. Through voluntary or mandated programs,
a small puncture in the heel and a few drops of blood are collected on a filter paper card. The cards are
submitted to a screening lab, where they are examined for a variety of conditions, such as hypothyroidism,
anemia, hemoglobin problems, cystic fibrosis, and hereditary metabolic conditions (IMDs).
Aminoacidopathies, organic acidemias, fatty acid oxidation disorders, galactosemia, and biotinidase
deficiency are among the illnesses that may be treated with NBS. One frequently used screening procedure
is for phenylketonuria (PKU). The amino acid phenylalanine cannot be metabolized adequately in children
with this illness. This substance, together with its byproduct, phenylpyruvate, may build up to hazardous
amounts in the bloodstream, resulting in severe intellectual impairment (mental retardation). If PKU is
identified in a baby, however, a particular diet deficient in phenylalanine typically allows for normal
growth. (This diet, among other things, avoids the artificial sweetener aspartame, which includes
phenylalanine.) Regrettably, few additional hereditary illnesses are now treated.
Preimplantation Genetic Diagnosis (PGD)
Pregnant mothers whose kids are at risk of inheriting a significant genetic disorder may be given prenatal
diagnostic procedures such as amniocentesis and chorionic villus biopsy. Such tests, however, are not
suitable for certain couples, and preimplantation genetic diagnosis offers an option.
Preimplantation genetic diagnosis is a procedure that includes analyzing the developing embryo after in
vitro fertilization. At the 6-10 cell stage (day 3 of development), one or two cells (blastomeres) are removed
from the preimplantation embryo during the biopsy, allowing for the replacement of unaffected embryos
into the uterus.
Preimplantation genetic diagnostics is available for three primary illness groups. To begin, it may be used to
detect the embryo's sex in cases of sex-related illnesses in which the exact genetic abnormality is unknown,
extremely variable, or inappropriate for testing on single cells—for example, Duchenne muscular dystrophy.
Second, it may be used to identify single-gene deficiencies, such as cystic fibrosis, in which the molecular
abnormality can be detected using molecular methods after polymerase chain reaction (PCR) amplification
of DNA isolated from single cells.
Thirdly, it may be used to diagnose chromosomal diseases, since fluorescent in situ hybridization has been
created to detect a variety of chromosomal rearrangements, such as translocations, inversions, and
chromosome deletions.
Certain prospective parents who have a chromosomal rearrangement may have never produced a healthy
pregnancy prior to seeking preimplantation genetic testing since each previous conception ended in a
chromosomally imbalanced embryo that lost naturally.
5) What Is Gene Expression? Why is regulation of gene expression important? How can, for
example, a cell in the retina of your eye makes different proteins from a cell in your liver when
both cells have the same DNA? (20 points)
Gene expression is the process by which the instructions in our DNA are converted into a functional
product, such as a protein. Structural genes are those that include information necessary for the amino
acid sequences. This procedure is divided into two stages:
 Transcription- Using RNA polymerase enzymes, messenger RNA is synthesized, culminating in

the processing of the mRNA molecule.
 Translation- The primary purpose of mRNA is to drive the synthesis of a protein, which results in
the protein molecules undergoing further post-translational processing.
Gene expression is important as:

 Energy and space are conserved.
 Assures that the body's gene products are in balance.
 Distinguishes between the functions of cells and genes.
 Diversifies the characteristics of creatures living in a variety of habitats.
Because several identical RNA copies may be generated from a single gene, cells can swiftly manufacture a
huge quantity of protein when required. Additionally, each gene may be transcribed and translated with a
varied efficiency, enabling the cell to produce massive amounts of certain proteins while producing minute
amounts of others.
Each somatic cell in an organism has the same genetic material, but not all genes are expressed in every
cell. The regulation of gene expression determines whether a cell is an eye cell or a liver cell. It is the
differential gene expression patterns that emerge between cells that result in the formation of an organism.
During the early stages of pregnancy, the cells differentiate and mature into several cell types.
Each cell type has a distinct role in response to external stimuli
- Requires different genetic products
- Gene expression is regulated.
Because a cell in the retina of the eye and a cell in the liver execute distinct roles, DNA particles that are not
required by the cells are hushed while those that are being stimulated.
Thus, although sharing the same DNA, the two cells above produce distinct proteins.
References:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043096/
https://byjus.com/biology/gene-regulation/

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1.

MIDTERM EXAMINATION – BIOLOGY

Student ID: BTBTIU21220 Name: Lê Hà Phương Ly

SUBJECT: BIOLOGY (BT155IU)

Full name: Full name:

1. This is opened book test

Answer on the question sheets:

The extracellular matrix (ECM) works as an adhesive

 Transcription- Using RNA polymerase enzymes, messenger RNA is synthesized, culminating in

Gene expression is important as:

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