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Various genetic disorders
Various genetic disorders
Various genetic disorders
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In 1970 Francis Crick published a paper in the science journal Nature on the central dogma of molecular biology, presenting the normal flow of genetic information, as shown in Figure 1 (Crick, 1970). Although many discoveries have been made since then, the main idea still stands: every organism uses its own DNA sequence to synthesize its proteins (Crick, 1970). In order to function properly, the genome has to be kept unblemished, any damage can potentially affect a protein’s structure, interfering with its function (Brown, 2010). Albeit evolution has equipped every functional cell with a molecular toolkit designed to repair and thus prevent DNA damage, errors still occur. Those errors that remain buried within a cell’s genome and are sometimes passed on to the next generation, go under the name of DNA mutation. Because DNA codes for proteins and RNA molecules, almost every change in the DNA sequence, left unrepaired, can cause physiological malfunctions, known as genetic diseases.
According to The Global Genes Project, there are more than 7,000 rare genetic diseases alone. Despite those alarming figures, genetic diseases are not uncommon since DNA is rather a fragile molecule prone to damage. Many types of mutations have been analyzed and classified, the simplest of which is point mutation. The change of one base pair into another has been linked to life-threatening diseases such as sickle cell anemia. In sickle cell anemia, the structure of the β-strand of the hemoglobin protein has been modified by the replacement of glutamine acid (Ingram, 1957).At the molecular level, the change from glutamic to valine corresponds to a modification of adenine to thymine (Marotta et al., 1977), leaving the peptide chain with a loss of negative...
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...e mitochondria and possible contribution to mutagenesis through reduced replication fidelity. Proceedings of the National Academy of Sciences 102, 4990-4995
22. Taylor, R. W., & Turnbull, D. M. (2005) Mitochondrial DNA mutations in human disease. Nature Reviews Genetics 6, 389-402
23. Thibodeau P. H., et al., (2010). The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis. J. Biol. Chem.285, 35825–35835
24. Transtutors.com. 2014. Gene Abnormalities and Disorders Help for Chromosomes - Transtutors. [online] Available at: http://www.transtutors.com/homework-help/biology/chromosomes-genetic-disorder/gene-abnormalities-and-disorders.aspx [Accessed: 21 Mar 2014].
25. Viguera, E., et al. Replication slippage involves DNA polymerase pausing and dissociation. EMBO Journal 20, 2587–2595 (2001)
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
In this lab we amplified a region of DNA that is found in the mitochondria. Mitochondria have their own set of DNA. Mitochondrial DNA has “16,500 DNA building blocks (base pairs), representing a small fraction of the total DNA in cells. — Mitochondrial DNA contains 37 genes,” (Genetics Home Reference, NIH, 2014) The part of the DNA that we amplified was the D-loop region. This part of the mitochondrial genome is the origin of replication for the mitochondria. This part of the mitochondria is also “prone to somatic mutation, which are a type of non-inherited mutation.” (Genetics Home Reference, NIH, 2014) One’s mitochondrial DNA is only inherited from the maternal side. The reason why is because when “an egg cell is fertilized, nuclear chromosomes from a sperm cell enter the egg and combine with the egg’s nuclear DNA producing a mixture of both parents’ genetic code.” (Groleau, PBS, 2014) Since the mtDNA is the exact same as the mother’s one can trace back the lineage of their maternal side and trace from what part of the world they are descended from. The mtDNA contains a history storybook of the travels and nomadic paths their ancestors took before their creation. The purpose of amplifying this region of mtDNA is to trace back our lineage.
What is Myotonic Dystrophy?. Genetics Home Reference. November 2006. US National Library of Medicine. February 9, 2009. < http://ghr.nlm.nih.gov/condition=myotonicdystrophy>.
2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols.
A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009).
For many hereditary diseases, cells deteriorate at a rapid pace, or they are mutated when they divide. However, with the use of cloning, scientists can study the diseased cell which causes the others have errors. By cloning a specific mutated cell, scientists can research the development in a disease (Jaenisch 1). Instead of allowing the cell to divide on its own and change its structure each time, exact replicas can be produced, which allows researchers to perform experiments on one independent variable at a time. By researching the inner workings of mutated cells, scientists can discover more information about healthy “monoallelic expression of imprinted genes… [and] the genomes of the sperm and the oocyte.... in the genome of the zygote” operate (Jaenisch 2). The zygote is a pre-fetus, and the healthy formation of it is vital for the healthy development of the human. By researching cloning, scientists can understand the harmful mutations of a cell and develop a cure or vaccination against them. Scientists can then, after finding how to stop mutations, accomplish a way to stop human cells from deteriorating, and discover a way to lengthen the lifespan of a typical human
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
Tsou, J. A., Hagen, J. A., Carpenter, C. L., & Laird-Offringa, I. A. (2002, August 05). DNA
Shortly after the groundbreaking discovery of the structure of DNA in 1953, the scientific world was essentially given the ability to alter the genetic sequence of any living organism using a process known as 'genetic engineering'. By definition, genetic engineering is 'the deliberate modification of the characteristics of an organism by manipulating its genetic material', it is quite simply an unnatural process which defies the ordinary course of nature. As of yet, no devastating or permanent damage has been done. However, the unpredictable nature and unknown consequences genetic engineering holds is more than enough reason to be cautious, as one mistake could have irreversible and catastrophic effects.
... and therefore mitochondrial DNA is inherited only from the mother. Thus this DNA would be a unaltered sequence passed strictly along maternal lines and only changing by accident or mutation.
The use of genetic sequencing in the medical field has innumerable possibilities; genomic medicine, as this new field is now called, will enable the human race to make immense advances in understanding how our genetic heredity makes us susceptible to some illnesses and immune to others. The detection of diseases with a high rate of heredity is just one facet of the gem that is genomics; once researchers are able to map out all of the vital components and rare alleles that sometimes play a large factor in disease, it will be possible to target these specific gene combinations, functional elements, and alleles. Because of the fact that protein, produced by our cells’ ribosomes, has an effect on the pathways that help express our inherited traits, it is important that we understand the relationship between DNA and protein, and how this affects the phenotype of an individual’s genetic attributes. For example, sickle-cell anemia is caused by a flaw in one nitrogenous base sequence in DNA. This flaw then translates into RNA, then into amino acids that determine the phenotype that the subject will have. The discrepancy in something as minute as a nitrogenous base and one amino acid makes the difference between a healthy, normal life and a life ...
Is it possible to eradicate disease entirely? A half-century ago, little was known about how disease was affected by genetics. In 1953, James Watson and Francis Crick discovered the double helix structure of DNA. In the mid 1970’s, ways were developed to determine the order, or sequence, of the chemical letters in DNA. The Human Genome was completely unknown to man until 1990, when the National Institutes of Health (NIH) and the Department of Energy teamed up with international partners to complete the entire 3 billion base pairs of the Human Genome. The goal of this project was to understand the genetic factors in human disease and to hopefully find ways to diagnose, treat, and prevent disease. The Human Genome project has supported an Ethical, Legal and Social research program to address the many issues that might arise from this study. The Human Genome Project should continue because it has the potential to unlock the cure to countless diseases.
Discoveries in DNA, cell biology, evolution, and biotechnology have been among the major achievements in biology over the past 200 years, with accelerated discoveries and insight’s over the last 50 years. Consider the progress we have made in these areas of human knowledge. Present at least three of the discoveries you find to be the most important and describe their significance to society, health, and the culture of modern life. 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.
My character is from divergent. His name is Tobias Eaton (Four). I share the same fears as Four. Four is divergent. Witch means he has no faction he is strongest in. I can relate to Tobias Eaton ( Four ) because I am afraid to kill a innocent person, I am afraid of heights, and I am afraid of getting beaten as a young kid by my father.
Thymine: Combining with Adenine this nucleobase is often replaces with uracil in RNA. It is also the common cause of mutations in DNA. When in the presence of ultraviolet light, radiation causes alterations in the DNA molecule that inhibit normal...