Name: Michael John B.

Enario

Course & Yr.: Bsed- Science 2

Lesson 8: Gene Expression and Control

Evaluation

1. List down three (30 mutations that can be passed on to offspring. Identify the cause/s of these
mutations.
 Cystic fibrosis – a defect mutation in a gene which is the cystic fibrosis transmembrane
conductance (CFTR) gene changes a protein that regulates the movement of salt in and
out of cells. The result is thick, sticky mucus in the respiratory, digestive and
reproductive systems, as well as increased salt in sweat. Many different defect can occur
in the gene. The type of gene mutation is associated with the severity of the condition.
Children need to inherit only one copy, they won’t develop cystic fibrosis. However, they
will be carries and could pass the gene to their own children
 Hemophilia – in one of the genes, that provide instructions for making the clotting factor
proteins needed to form a blood clot. This mutation can prevent the clotting protein
from working properly or to be missing altogether. The father only passes half of his sex
chromosomes to the baby, either the X or the Y. if the baby gets the Y chromosome
from the father it will be a boy. The son get from the mother either her X chromosome
with the hemophilia gene or her X chromosome with the normal blood clotting gene.
 Sickle Cell Anemia – it is a type of hemoglobin is the substance in the blood and gives
blood its red color. A person’s hemoglobin type is not the same thing as blood type. The
type of hemoglobin we have is determined by genes that we inherit from our parents.
Sickle cell anemia occurs when a persons inherit two sickle cell genes. One from each
parents. If both parents have sickle cell trait, there is a 25% (1 in 4) chance with EACH
pregnancy that the baby will have sickle cell anemia. A child with sickle cell anemia
appears normal at birth. however, later in Infancy, anemia develops and the child tires
easily.
2. Is there any mutation that doesn’t cause a problem? Explain your answer briefly.
 No, there is no mutation that doesn’t cause a problem because it only a small
percentage of variants cause genetic disorder- most have no impact on health or
development. For example, some variants alter a gene’s DNA sequence but do not
change the function of the protein made from the gene. A very small percentage of all
variants have a positive effect. These variants lead to new versions of proteins that help
an individual better adapt to changes on his or her environment.
II. Research one update on DNA technology and write a reflection on this. (submit your hard copy of the
research update and on a separate sheet your reflection).

RESEARCH ADVANCES EMERGING SEQUENCING TECHNOLOGY

Nanopore technology shows promise for making it possible to develop small, portable, inexpensive
devices that can sequence DNA in real time. One of the challenges, however, has been to make the
technology more accurate.Researchers at The University of Texas at Dallas have moved closer toward
this goal by developing a nanopore sequencing platform that, for the first time, can detect the presence
of nucleobases, the building blocks of DNA and RNA. The study was published online Feb. 11 and is
featured on the back cover of the April print edition of the journal Electrophoresis.

"By enabling us to detect the presence of nucleobases, our platform can help improve the sensitivity of
nanopore sequencing," said Dr. Moon Kim, professor of materials science and engineering and the Louis
Beecherl Jr. Distinguished Professor in the Erik Jonsson School of Engineering and Computer
Science.Currently, most DNA sequencing is done through a process that involves preparing samples in
the lab with fluorescent dye and using lasers to determine the sequence of the four nucleobases, the
fundamental units of the genetic code: adenine (A), cytosine (C), guanine (G) and thymine (T). Each
nucleobase emits a different wavelength when illuminated, allowing scientists to determine the
sequence.In nanopore sequencing, a DNA sample is uncoiled, and the hairlike strand is fed through a
tiny hole, or nanopore, typically in a fabricated membrane. As it moves through the nanopore, the DNA
strand disturbs the electrical current flowing through the membrane. The current responds differently
based on the characteristics of a DNA molecule, such as its size and shape.

"The electrical signal changes as the DNA moves through the nanopore," Kim said. "We can read the
characteristics of the DNA by monitoring the signal."One of the challenges in advancing nanopore
sequencing has been the difficulty of controlling the speed of the DNA strand as it moves through the
nanopore. The UT Dallas team's research focused on addressing that by fabricating an atomically thin
solid-state -- or nonbiological -- membrane coated with titanium dioxide, water and an ionic liquid to
slow the speed of the molecules through the membrane. The water was added to the liquid solution to
amplify the electrical signals, making them easier to read."By enabling us to detect the presence of
nucleobases, our platform can help improve the sensitivity of nanopore sequencing."The next step for
researchers will be to advance the platform to identity each nucleobase more quickly. Kim said the
platform also opens possibilities for sequencing other biomolecules."The ultimate goal is to have a hand-
held DNA sequencing device that is fast, accurate and can be used anywhere," Kim said. "This would
reduce the cost of DNA sequencing and make it more accessible."
REFLECTION

This latest DNA sequencing technology can help us determine easily the nucleic acid sequence. Through
this technology the advent of rapid DNA sequencing methods has greatly accelerated biological and
medical research and discovery. The knowledge of DNA sequence has become indispensable for basic
biological research, and in new numerous applied fields such as medical diagnosis, biotechnology,
forensic biology, virology and biological systematics. We can also use this technology as a guide for
patient treatment and having a quick way to sequence DNA allows for faster and more individualized
medical care to be administered, and for more organisms to be identified and cataloged.

One of the benefits that we can get from this technology according to Dr. Moon Kim, we can enable to
detect the presence of nucleobases, our platform can help improve the sensitivity of nanopore
sequencing.

One of the most compelling advantages of nanopore sequencing is the prospect of inexpensive sample
preparation requiring minimal chemistries or enzyme- dependant amplification. Furthermore, a
nanopore sensor eliminates the need for nucleotides and polymerases or ligases during readout. Thus,
the cost of this latest nanopore sequencing, be it by direct strand sequencing or by one of the other
methods. The ideal nanopore sequencing approach would not require the use of purified fluorescent
reagents and would use unamplified genomic DNA, thus eliminating enzymes, cloning and amplification
steps.

Another readout modality in development for nanopore based sequencing converts the sequence
information of DNA into a two color scheme that iss then optically. Whereas attachment of fluorescent
probes to each and every nucleotide in DNA is difficult, methods are available to systematically encode
and substitute each and every nucleotide in the genome with a specific permutation.