Genetic Mutations
Introduction
A genetic mutation is a permanent change in the sequence of the DNA that makes up a gene. A mutation of these sorts can be caused by either inheritance from the parent or caused sometime during the life of someone. The mutation that has been inherited is called a germline mutation. Germline mutations affect virtually the entire body, and they seem to be present in every cell. A somatic mutation, or one that is caused in the DNA of a single cell sometime during the life, can be caused by an environmental factor or a wrong bonding in the DNA molecule. These cannot be passed down to the next generation of children because they occur in a specific cell as opposed to in a reproductive cell. Some mutations occur in the embryo as it is growing. These may occur during cell division, and some of the cells may or may not inherit this mutation. Some mutations are extremely rare, and others are incredibly common. Those that occur in more than one percent across a population are considered polymorphisms. Polymorphisms are considered normal variations in DNA, and they are known to cause simple changes such as variations in blood types and hair color. Although these are not typically fatal, they can influence the creation of some disorders (Lister Hill National Center for Biomedical Communications, U.S. National Library of Medicine, National Institutes of Health, Department of Health and Human Services, USA.gov, 2013).
Undiagnosed Diseases Caused by Mutations
Most diseases are caused by a type of genetic component. Many of the diseases that have been caused by gene mutations are undiagnosed. These remain undiagnosed because the disease is so rare that the doctor does not know how to diagnose the patient. Many sy...
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Turner Syndrome Society of the United States (2011). http://turnersyndrome.org Retrieved November 30, 2013 from http://turnersyndrome.org/learn-about-ts/what-ts
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
By using identified gene mutations that are known to cause diseases, asymptomatic individuals are able to discover if they are at risk for specific genetic conditions; this is known as genetic testing. Unfortunately, genetic testing can vary in its predictive ability. For example, Huntington disease, Duchenne Muscular Dystrophy, Fragile X syndrome and multiple endocrine neoplasia type 2 are conditions that can be determined by genetic testing (Samen, 1996). In contrast, for multifaceted diseases like Alzheimer’s, breast and ovarian cancer and colorectal cancer, predisposition can be determined with genetic testing. However, an absolute diagnosis of those diseases cannot be made (Heshka et al., 2008).
Every cell contains forty-six chromosomes (twenty-three pairs). One, out of the twenty-three pairs, is in control of a person’s gender. There two different kinds of chromosomes: X and Y. Males are born with one X chromosome and one Y chromosome. Females, however, are born with two X chromosomes. According to Cindy Dunham and Catherine H. Ward, girls with Turner syndrome are missing part of, or all of the X chromosome (3). The chromosome becomes absent before or shortly after conception (Overview par. 3). Girls diagnosed with Turner syndrome are confirme...
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
Due to the human genome project and other genetic research, tests for mutation which cause diseases have been developed. The list of these illnesses include several types of cancer. Doctors have estimated that as many as 3,000 diseases are due to mutations in the genome. These diseases include several types of colon cancer in which three different genetic tests have been already developed. Debates have arisen on whether these tests should be used regularly or not. Questions including the patients= rights of privacy and the possibility of loss of health or life insurance have been argued over in both the media and political arena.
What is evolution and how does it work? Evolution is the theory of how one form of life changes into another form. Evolution also is the change of a population’s inherited traits from generation to generation. Evolution helps to explain why an animal, human, and plant looks the way it does and acts the way it does; it gives an explanation of the history of life. Genes come in many varieties and the evolution helps to make it happen. Mutation, natural selection, genetic drift, and gene flow: the four forces that make the evolution work.
Genetic testing involves examining an individual’s DNA and identifying abnormalities within the chemical makeup of specific structures. It, essentially, maps the person’s genome and can be interpreted to predict future issues. By analyzing the chromosome, genes, and even certain proteins, physicians and researchers can find changes that lead to inheritable disorders. These changes can lead to possible diagnosis or cure for the disorder in question. In most cases, genetic testing is used to determine the probability that an individual will develop a certain disorder. It is not used to specifically diagnose a disorder, as there are no techniques that are 100% accurate. Genetic testing techniques do give good evidence to confirm a physician’s findings, but it is not the first act a physician takes to diagnose a disorder. It can narrow a search or rule out a specific disorder very confidently, but making a diagnosis based solely on genetic testing is not an action that a qualified medical professional would consider.
The study of the causes of substance abuse has been conflicting many people for a long time. There are two causes of substance abuse that have been argued for many years. The first cause is believed to be environmental. The second cause is a genetic cause that leads people to turn to drugs and alcohol. In “Touch of Grey” Lanthrop comes to the conclusion that his substance abuse issue posses both genetic and environmental causes. This argument is specifically compelling because he uses research and a personal statement to prove his findings. While environmental issues have a large impact on substance abuse, genetics have the greatest impact on substance abuse.
On Christmas Day in the year 2001, I gave birth to a healthy baby boy. When I looked into the brand-new face of my son I saw a beautiful mystery. I wondered what kind of man my boy would grow to be and what his life would be like. There are those in the scientific community who would argue that my son's path was already determined at the moment of his birth, that his fate could be deciphered from his genetic make-up. As a nurturing mother I know better. At two years old my son has developed a more diverse vocabulary than many children twice or even three times his age. He recognizes many written words and reads them aloud. He is able to spell his name. He can distinguish a square from a rectangle and an octagon from a hexagon. Was he born with this knowledge? The answer is no. My son, as genetically gifted as he may be, could have been born into an environment in which his inborn potential was never developed. The knowledge he now possesses can be directly traced to the teaching environment in which he has grown. Human beings are a product of both their biology and their environment.
OTHER NAMES Depending on the doctor, Turner's Syndrome may be diagnosed with one of the following alternative names: 45 - X Syndrome, Bonnevie-Ulrich Syndrome, Chromosome X, Monosomy X, Morgagni- Turner-Albright Syndrome, Ovarian Dwarfism, Turner Type, among others. SYNDROME CHARACTERISTICS A reduced growth in height is the commonest visible characteristic of the syndrome, (the average adult height is 4 feet 8 inches) and may be the only sign before puberty. Their body proportions are normal.
In their research article, “Genetic modification and genetic determinism”, David B. Resnik and Daniel B. Vorhaus argue that all the nonconsequentialist arguments against genetic modification are faulty because of the assumption that all the traits are strongly genetically determined, which is not the case. Resnik and Vorhaus dispel four arguments against genetic modification one-by-one. The freedom argument represents three claims: genetic modification prevents the person who has been modified from making free choices related to the modified trait, limits the range of behaviors and life plans, and interferes with the person 's ability to make free choices by increasing parental expectations and demands (Resnik & Vorhaus 5). The authors find this argument not convincing, as genes are simply not “powerful” enough to deprive a person of free choice, career and life options. In addition to that, they argue that parental control depends not on genetic procedure itself, but rather on parents’ basic knowledge of what the results of the modification should be. In a similar fashion, the giftedness arguments, which states that “Children are no longer viewed as gifts, but as
The definition of mutation is any change in a gene or chromosome. One way to tell if a mutation is helpful, harmful, or neutral is by the organism’s environment. Some mutations are neutral which means that the change does not have an affect on the organism. A helpful mutation improves an organism's chance of survival and reproduction. How to tell if a mutation is harmful is if it reduces the organism’s chance of survival and reproduction. An example of a helpful mutation would be Antibiotics which kill bacteria. An example of a harmful mutation is an animal being a different color than the rest of the animal in its species. Mutations can sometimes cause a cell to produce an incorrect protein during protein synthesis. If this does happen, it
In particular, The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) has conducted research where they discovered a new abnormality of the aorta that affects about 50% of females with Turner Syndrome. They are also studying topics including: characteristics that put women at high risk for aortic dissection, comparing the effectiveness of drugs to prevent dilation of the aorta, and psychosocial functioning. NICHD has also worked on the development of a new, low-cost newborn screening test for Turner Syndrome to decrease the number of females who are not diagnosed until their teenage years.
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.
Turner Syndrome Society. (2011). Learn about TS: Fact Sheet. Turner Syndrome Society of the United States. Retrieved October 9, 2015 from http://turnersyndrome.org/learn-about-ts/fact-sheet