In the human body the cells can reveal a wealth of genetic information, leading to diagnosis and answers to some clinical manifestations. DNA is a nucleic acid that is the part of a cell and contains molecules that store important information. A persons DNA is unique to them and determines things like how a person looks, hair, and eye color. DNA also contains genes, and is wound up into chromosomes, cells have to copy their DNA in order to reproduce. The enzyme hilcase unwinds the two strands of DNA and little proteins attach to each side to keep them separated. From there another part of DNA called polymerase, attaches new nucleotides to match the existing one. After the new nucleotides are added, then they are recheck by the polymerase to make sure that they are right. Lastly, the DNA ligase enzyme completes and creates the continuous strand of DNA. This process is so delicate and has many chances to go wrong . One alteration in the process or with the enzymes can create a variety of disorders in humans .
The disease Alper- Huttenlocher syndrome is a POLG gene related disorder. The POLG gene provides instructions for making the alpha subunits of the protein polymerase gamma. It also codes for the catalytic subunits of the mitochondrial DNA polymerase (Genetic Home Reference : Your Guide to Understanding Genetic Conditions, 2014). Alpers disease is a DNA polymerase (this is needed for POLG function) related disorder and it is caused by a mutation in the DNA polymerase, it is a biochemical defect. DNA polymerase is an enzyme that reads sequences of DNA. It is also responsible for coping and replicating cells genetic contents. Along with reading and replicating DNA polymerse also plays an important part in DNA repair. Th...
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...rrier parents (Nichols, 2013). However, this has not been approved and is very controversial approach, but this type of technology can lead to the understanding, prevention, or cure of the disease known as Alpers-Huttenlocher syndrome.
Reference Page
Euro, L. F. (2011, July 14). Nucleic Acids Research. Retrieved from Oxford University Press : http://ncbi.nlm.nih.gov
Genetic Home Reference : Your Guide to Understanding Genetic Conditions. (2014, Feburary 3). Retrieved from Alpers-Huttenlocher Syndrome: http://www.ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome
Nichols, A. (2013, October 16). A Throw away Culture in Reporductive Medicine. Retrieved from Crisis Magazine: http://crisismagazine.com/.../a-throw-away-culture-in -reproductive-medicine
Pierce, b. (2010). Genetic Essentials: Concepts and Connections. . New York: W.H Freeman and Company.
Preventative medicine comes with the potential for making our lives both better and worse. Today the world in which we live in has faced steady medicalization of daily existence. Many factors have contributed to the rise of medicalization. For instance the loss in religion, the increase of faith in science, rationality, progress, increased prestige and the power of the medical profession. The medical profession and the expansion of medical jurisdiction were prime movers for medicalization. Medicalization has also occurred through social movements. Doctors are not the only ones involved in medicalization now, patients are active collaborators in the medicalization of their problem. Critics try to argue for or against the idea that this leads to a favorable versus a non -favorable outcome. This increased establishment and development of medicine, including technoscience, has resulted in a major threat to health. The medicalization of normal conditions, risks the creation of medical diagnoses that are widely inclusive and that hold the potential for further expansion. Many biologically normal conditions, like shortness, menopause, and infertility, are currently considered medical problems. These naturally occurring states are now regarded as undesirable and deviant. This process is referred to as medicalization. Although they are considered deviant, however, the process of medicalization also removes culpability: a person’s problems can be ascribed to a chemical imbalance rather than seen as reflecting his or her character or accomplishments. Some of the articles I will be looking into are Dumit’s “Drugs for life” as well as Healy’s “Pharmageddon” and Cassel’s “Selling Sickness” to explore if this process of overmedicalization has le...
Miller, Kenneth R. and Joseph S. Levine. “Chapter 12: DNA and RNA.” Biology. Upper Saddle River: Pearson Education, Inc., 2002. Print.
DNA is the genetic material found in cells of all living organisms. Human beings contain approximately one trillion cells (Aronson 9). DNA is a long strand in the shape of a double helix made up of small building blocks (Riley). The repeat segments are cut out of the DNA strand by a restrictive enzyme that acts like scissors and the resulting fragments are sorted out by electrophoresis (Saferstein 391).
-Reilly Philip. Is It In Your Genes. Cold Spring Harbor Laboratory Press. 2004: 223-228. Print
Reflection Paper 1 Timothy Jenkins CEP 215 New Mexico State University Upon viewing “More Business of Being Born” (Epstein, 2011), I learned a lot about the different pros and cons of Vaginal Birth After Cesarean (VBAC). Women are often deprived of the choice of the method of delivery of their children after they’ve previously had a cesarean birth. The cause of this is that there exists medical fright about a rupture of the uterus which often leads to the death of mother and baby (Epstein, 2011). In the mid twentieth century, it became common saying that “once a cesarean, always a cesarean” came about. This saying perpetrated the fear and understanding that women have to go about having another cesarean, depriving them of choice (Epstein, 2011).
Rett syndrome is a progressive neurological disorder that affects almost exclusively in females. The most basic symptoms include decreased speech, cognitive disabilities, severe lack of muscle control, small head size, and unusual hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The mutated gene on the X chromosome that is responsible for causing Rett syndrome is the methyl CpG-binding protein 2, MECP2 gene. The gene makes a protein that controls other genes. When a mutation occurs in the MECP2, the protein it makes does not work properly. This is thought to counteract normal neuron, nerve cell development. The severity of the syndrome in females is related to the type of mutation in the MECP2 gene and the percentage of cells that carry a normal copy of the MECP2 gene. Rett syndrome is believed to affect all ethnic groups and nationalities with an equal frequency of about 1 case for every 10,000 to 15,000 live female births.
Boston: Bedford/St. Martin,. 304 - 316 mm. Print. The. Newman, Stuart A.. “The Hazards of Human Developmental Gene Modification.”
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
Oakley, Ann. “Beyond The Yellow Wallpaper.” Reproductive Health Matters 5.10 (1997): 29-39. JSTOR. Web. 7 April 2011.
... have been doing a phenomenal job of figuring this out. DNA is the chemical in each cell that carries our genes. DNA is the source of just about everything. It not only determines what we look like, but also many other things. Instructions are on some of our genes to let them know when they need to multiply and divide. Cancers can be caused by DNA defects.
"Polymerase Chain Reaction (PCR) Fact Sheet." National Human Genome Research Institute. 10 Dec. 2007. National Institutes of Health. .
On the side, another batch of lambda DNA (1.68 µL) was mixed with nuclease free water (3.32 µL).
..., similar to BLM, XPD, XPB, and WRN is found in Super family 2 and is a part of the DEAH box helicases. These helicases are involved in nuclear transcription and control of gene expression (De La Cruz et al, 1999). Mutations to this gene coding protein can result in an individual suffering from ATR-X syndrome, causing psychomotor retardation, α-thalassemia and the expression of abnormal phenotypes in both the genitals and face. A 2kb deletion mutation has been observed in the XH2 gene, removing both coding and non-coding sequences. This mutation results in the down-regulation of α - globin, this irregular haemoglobins are produced which directly results in α - thalassemia (Gibbons et al, 1995). The mutated globin proteins have a lower affinity with oxygen, thus less oxygen is in the blood, and less oxygen reaches the brain which can trigger psychomotor retardation.
proactive measures against recurrence and relapse of the disease can be made. Molecular medicine in genetics will also improve the design and testing of new drugs.
DNA (deoxyribonucleic acid) is a self-replicating molecule or material present in nearly all living organisms as the main constituent in chromosomes. It encodes the genetic instructions used in the development and functioning of all known living organisms and many viruses. Simply put, DNA contains the instructions needed for an organism to develop, survive and reproduce. The discovery and use of DNA has seen many changes and made great progress over many years. James Watson was a pioneer molecular biologist who is credited, along with Francis Crick and Maurice Wilkins, with discovering the double helix structure of the DNA molecule. The three won the Nobel Prize in Medicine in 1962 for their work (Bagley, 2013). Scientist use the term “double helix” to describe DNA’s winding, two-stranded chemical structure. This shape looks much like a twisted ladder and gives the DNA the power to pass along biological instructions with great precision.