...DNA Mutations- The Consequences Introduction Deoxyribonucleic acid, which is more commonly known as DNA, is the hereditary material in almost all organisms. Its purpose is to store and retain the genetic information needed to be able to construct as well as maintain an organism such as a human being. Due to this people like to say that it is seen as the blueprint of life, as it contains the instructions for everything a part of you, such as eye color, height, hair type and several more. It truly controls the development of a living organism making each and every one unique in their own manner; it is also able to pass down information as well. Deoxyribonucleic acid is typically found in the cell nucleus, and due to this it is given the name nuclear DNA, it can also be located in the mitochondria and be called mitochondrial DNA. The main components of DNA are: a phosphate group, 5 carbon sugar and a nitrogenous base. The four nitrogenous bases are adenine, guanine, thymine, as well as cytosine. The order and sequences of these bases determine information to help build as well as maintain an organism or to allow for different information to be transmitted from one and another. Each of the bases is attached to sugar and phosphate molecules which are held together by phosphodiesterase bonds. Together they form what is called a nucleotide. Nucleotides are arranged in two long strands, these strands form something known as a double helix. By doing so it allows for more DNA...
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...List of Inherited Disease Posted by nutrifile on September 7th, 2011 Family history plays an important role in a person’s health condition. For example, if in anyfamily history of cancer, it means that we or our children have the possibility to inherit the same gene. In other words, the risk for developing cancer is much higher than the risk of individuals who do not have the gene. So far scientists have identified genes that can increase the roughly 400 most prominent disease conditions, such as Parkinson’s and cystic fibrosis or fatal condition caused by genetic mutations. Cystic fribrosis cause the formation of thick, sticky mucus in the lungs and various other parts. However some diseases are caused not only by a single gene but rather due to a combination of several factors such as diet and lifestyle. Call it like high blood pressure, heart disease or schizophrenia. Here are some of the diseases and their percentage of the level of risk that may be derived related to a history which is owned by family members: 1. High blood pressure Hypertension or high blood pressure is a state where a person experiences an increase in blood pressure above normal or chronic (long periods). Hypertension is often not realized because it is not symptomatic. To find the blood pressure measurements were taken. If not promptly treated, may increase the risk of stroke orheart attack. Inherited risk: According to experts, if one of your parents have high blood pressure, your risk of getting...
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...BIOL 1201, Section 2 Study Guide for New Material for Final Examination FOR THE TEST PLEASE BRING PENCILS (PLURAL), ERASER, CALCULATOR AND SPARE BATTERIES. While this study guide can help you prepare for our Final Examination, please understand that you are fully responsible for all materials covered in class and the problem sets, including materials not in this guide. Note that this study guide is only for the new materials covered since the 4th Examination. The Final Examination is comprehensive. About 20% of the points will be taken from this new material. The other 80% will be taken from material covered earlier in the semester. DNA Replication, basics of semi-conservative replication, names and functions of the 5 enzymes required for replication, origins of replication, replication bubbles, differences between leading and trailing strand replication, details of the processes occurring at the replication fork, characteristics of DNA replication, replication problems at the ends of eukaryotic chromosomes, functions of telomers and teleomerases, chromosome packing, etc. Genes to Proteins, “One gene – one polypeptide chain, flow of genetic information - prokaryotes vs. eukaryotes, mRNA, details of Transcription – initiation, elongation and termination, processing of eukaryotic transcript into mRNA - 5’ cap and poly A tail and their functions, RNA splicing with intron excision by “spliceosomes”, Translation components, mRNA, the genetic code, how the code was...
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...DNA the most dreaded situation of a cancerous cell can be formed. To start let’s look at the different kinds of radiation that may or may not effect DNA. Alpha, Beta, and Gamma Radiation Ionizing Radiation can change the way our body’s work and develop. Direct includes covalent linkage between nitrogenous bases, and creating structure like thymine dimmers. Indirect is when it interacts with water to create free radicals which can interact with a person’s DNA. It can cause single or double stranded breaks in the sugar- phosphate backbone. (Buttons, n.d.) Alpha Radiation is a process that needs to be swallowed, inhaled, and or absorbed into the blood stream. This can increase the risk of cancer also known as lung cancer. Radon is a silent but deadly killer. To determine if one has been affected by alpha particles testing would be completed with special equipment and gear to prevent those from any exposure. Beta Particles can be a helpful process of treatment to many, such as treating thyroid disorders, cancer, and Graves’ disease (hyperthyroidism). It also is part of agricultural such as live stock, and/or farming. Yes we as humans have beta emitters in our systems, but they are very weak. We can look back at Chernobyl, Hiroshima, and Nagasaki; whether it be an atomic bomb or a nuclear reactor failing and or contamination to all of those surrounding the site and within several miles radius can lead to high to deadly exposure. All of the land that...
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...species as well as the diversity within the species.” (www.biology-online.org) The genetic diversities provide a way for the world to comply with the changing surroundings. As the world changes, the more creatures will adapt to their proper environments. The creatures offspring will have a higher survival rate. Genetic diversity is important because it serves as a path for population to change. Without genetic diversity, everything would look the same generation after generation. Ultimately, over time the species would become extinct. Mutation is changing the structure of a gene resulting in a different form in future generations. DNA is constantly subject to mutation or changes in the code. Mutations can be a good or bad thing. Most are actually good for us. “The good mutations that keep the world healthy are called silent mutations.” (www.geneticstheteach.org) But the mutations we hear about the most are the ones caused by sickness. Mutations caused by a single gene are some of the most well known diseases such as cystic fibrosis and sickle cell anemia. Most inherited genetic diseases are recessive, meaning a person must have two copies of the mutated gene to inherit the disease. Diseases caused by only one defective gene are extremely rare. Natural selection tends to change over time because the carriers are most likely dieing before having the chance to reproduce. Sexual reproduction by definition is the production of new life by combing genetic information from two...
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...Unit II: Genetics Brief Overview Reading: Chapters 3, 4, 9-12, 14 (Note: you have reviewed much of this already) The earth is teeming with living things. We can easily see some of the larger organisms—trees, grass, flowers, weeds, cats, fish, squirrels, dogs, insects, spiders, snails, mushrooms, lichens. Other organisms are everywhere, in the air, in water, soil and on our skin, but are too small to see with the naked eye—bacteria, viruses, protists (single celled eukaryotes such as amoebae), and tiny plants and animals. Life is remarkable in its complexity and diversity, and yet it all boils down to a very simple idea—the instructions for making all this life are written in nucleic acids, usually DNA. Most organisms have a set of DNA that contains the instructions for making that creature. This DNA contains four “letters” in which these instructions are written—A, T, G, and C. The only difference between the code for a dog and the code for a geranium is in the order of those letters in the code. If you took the DNA from a human and rearranged the letters in the right way, you could produce an oak tree—arrange them slightly differently and you would have a bumble bee—arrange them again and you would have the instructions for making a bacterium. Acting through more than two billion years, the process of evolution has taken one basic idea—a molecular code that uses four letters—and used it over and over, in millions of combinations to produce a dazzling array of life forms...
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...How could some presymptomatic testing be considered toxic for the individual testing, especially testing at an early age? Nevertheless, many parents seek genetic testing of their children, especially for situations in which a genetic disease is known to be present in the family. They may have different reasons for wanting their children tested. These requests create a dilemma for pediatricians. The dilemmas arise, in part, because not all “adult-onset” diseases are alike. Sometimes, there are interventions that may be beneficial in childhood; sometimes, parents seek the reassurance that might come with a negative test result. The requirements for the diagnosis of Huntington's disease (HD) include medical history, family history, neurological examination, brain imaging testing (including magnetic resonance imaging or MRI and computerized tomography or CT), laboratory tests, and genetic testing (when necessary). Side Effects: • MRI: Small children have to be sedated because they must lay PERFECTLY still (which little kids aren't willing to do) for up to 45 minutes (impossible for even the most patient children), and the machine can freak them out. (It's loud and a very small space.) Side effects of the drugs are sleepiness (obviously), nausea, vomiting, irratibility. Sometime headaches and temporary light sensitivity, but it's rare and depends on the drug they use. • CT scans (also known as CAT scans) create 3-dimensional pictures using ionizing radiation. On a daily basis...
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...Before we begin to discuss the issues related to genetic diversity, we have to know exactly what genetic diversity is all about. It is a " term used to describe genetic differences among members of a population", according to Concepts in Biology 12th Edition written by Eldon Enger. There are several topics we can discuss when speaking about genetic diversity such as mutation, sexual reproduction, migration and population size. Let's start with Mutation. Mutation brought recent information into a population by transformaing alleles that already exist. Sometimes you will find that a mutation will introduce a new allele into the gene pool of a species. Many other times, a mutation can also introduce an allele that was not present in a regional population, although it is produced in other populations of the species. For example, if a dog is a carrier of a disease causing allele, the dog can transmit this disease to a human if bitten. Initially, it may just be a few dogs that are troublesome. Over time, mutations occur that enables a significant number of dogs to be carriers. This would now be considered a major issue for humans. On another hand, you have sexual reproduction that does not originate new alleles. Sexual Reproduction incline new genetic ingredients when the genetic report from two individuals combines with one another during the process of fertilization, creating a one of a kind individual. But, this doesn't alter the incidence of alleles within...
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...many to reflect a brain disorder. Researchers made a giant leap in logic: Because brain injury can lead to hyperactivity, they believed that all hyperactivity was caused by brain injury. We now know this is not true. In fact, hyperactivity is also associated with giftedness, but obviously we cannot say that all hyperactive children are gifted any more than we can say all hyperactive children have suffered brain injury. More recent studies have shown that ADD is largely genetic. That is, it runs in families. This has lead some ADD researchers, notably Russell Barkley, to assume that our population is experiencing large scale random genetic mutations, a rather ridiculous notion for anyone familiar with population genetics. Anytime more than one percent of the population carries a gene, geneticists rule out random mutations under...
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...syndrome is a rare type of dwarfism that is caused by a congenital defect. Seckel syndrome is inherited in an autosomal recessive pattern and has been linked to genetic mutations on chromosomes 3, 18, and 14. How often Seckel syndrome occurs is not exactly known, but more than 100 cases have been reported in the medical literature. Many children diagnosed with Seckel syndrome are born to parents who are consanguineous, or closely related. This often causes prominent physical malformations, including a very short stature and a bird-like appearance. Serious mental retardation and blood disorders are also present in the majority of Seckel syndrome patients. Helmut Paul George Seckel was a prominent German physician who immigrated to the United States during World War II. In 1960, Seckel was the first physician to describe this disorder. It is also sometimes referred to as microcephalic primordial dwarfism, bird-headed dwarfism, and Virchow-Seckel dwarfism. A variant to this type of dwarfism is also known as Harper's syndrome, which was named after Dr. Rita G. Harper. Seckel syndrome is very rare, and only a handful of infants are diagnosed with it. It is believed to be a genetic disorder. Individuals born with this disorder typically have mutated chromosomes.These mutations can cause several physical mutations. An infant with Seckel syndrome will usually be born with a very low birth weight, due to improper growth prior to birth. Most of these infants will usually only weigh around...
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...run in families and identical twins who share the same genes are more likely to both have autism than are fraternal. So, genes are involved but isn’t easy to nail down what is going on genetically with autism. Autism and its entire spectrum of disorders is actually pretty common 1 in 166 people have it. Another way to explain a lot of these results is if autism weren’t in some of these folks trees to begin with. In some families autism just appears out of nowhere. Mount Sinai school of medicine in New York City, for example is offering a new blood test that examines 30 different genes for mutations known to be associated or autism or developmental delays. Some autism related genetic disorders also carry a high risk of cancer, siezures, heart diseases or other health problems, so knowing about them allows families and physians to be vigiliant for such issues. If a genetic mutation is found, researchers can also test the parents’ DNA to see if the problem was inherited or if it occurred spontaneously, in which case the risk of having another child with autism is no greater in the general population. Another possible outcome: The test could find abnormalities in those 30 genes- or find no “Variations of the unknown significance” Researchers at the University of Melbourne, Australia, have developed a test that looks for 237 genetic markers called single nucleotide-polymorphisims, some are thought to raise the risk of autism with more than 70% accuracy in people of central...
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...Hook Introduction to Alzheimer What is Alzheimer? Who have an Alzheimer? There are two main types of Alzheimer namely, early-onset Alzheimer and late-onset Alzheimer. Early-onset Alzheimer What is it? Who have it? What are the factors that influence this types of disease? What are the symptoms, signs of this disease? How can a doctor treat this disease? Late-onset Alzheimer In United Kingdom, 800000 people have a dementia, and the most common dementia is Alzheimer Dementia is a set of symptoms which comprises of “loss of memory, mood changes, problems with community and reasoning”. 60000 people in United Kingdom die per year attributed to dementia. One third of aged people over 95 years old have dementia. Two third of dementia patients are women (Alzheimer’s society, 2014.a). http://alzheimers.org.uk/site/scripts/documents_info.php?documentID=341 Alois Alzheimer, a German neurologist, first described Alzheimer as a physical disease affecting the brain. People with Alzheimer have a scarcity of certain vitals chemicals, which of these involve in the transmission of messages inside the brain. During the course of Alzheimer’s, protein called plaques and tangles develop inside the structure of the brain, leading to the death of brain cells. Alzheimer’s is a progressive disease, which means gradually more parts of the brain are damaged. As a result, the symptoms and impacts from Alzheimer ‘s are likely to become more severe over time...
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...Critical reflection In last four months, I have learned a lot of new information. I have come to believe taking genetics course is very crucial for a nurse. We discussed a lot of interesting genetic cases in classroom which improved my knowledge about the basic concepts of genetics, about role of the environment in genetic diseases, and about various risk factors associated with genetic diseases. By taking this course I now identify how to construct a family pedigree that can be used to take detailed family history in a clinical setting. I have learnt that family history not only holds important information about an individual’s past but can so be used to predict the future health of patients. Information from family history can be used as a diagnostic tool and help guide decisions about genetic and screening tests for the patient and family members at risk. An accurate family history will be important to establish a pattern of transmission. The genetic course has also made me think about my own family history. I do know that my grand father died of colon cancer and my other grand father died of type 1 diabetes. I know that this type of common diseases can run in families, because of this I was a little concerned about the fact that my parents and siblings including myself could be affected by it. However, taking this course helped me to conduct genetic risk assessments for our family based one the lessons I learnt from the course. This has enabled me to have a better understanding...
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...According to the company in the period 1901, when company was founded, the production of the artificial sweetener saccharine that was sold to Coca cola, this time Monsanto was well known as a Chemical company. They supplied the U.S. Army (Agent orange) which military sprayed over Vietnam and then it lead to genetic mutations in Vietnam event after 40 years. In 1981, they determined that the biotechnology would be the company new strategic focus. Then in 1994, they introduced their first products, and then sold soybean, cotton, and canola seeds. So other herbicides killed good plants that consider as not ethical at all. After production of insecticide DDC make a debate about safety in food, that it can be cause of some dangerous illness. Ethical issue was that it could lead to changes in natural ecosystem and distorted natural balance, but also provoke mutations after long time as it was in Vietnam. It’s a big risk for the future generation. In 2000, the company began Pharmacy Corporation and focused on agriculture after two years. Nowadays we can see ethical issue, how the company that specializes in using of dangerous substances as dioxin has caused many mutations. Can now began agricultural and rid the planet of hunger? It...
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...4 Case Study 2: Skin Cancer Skin cancer is a rather harsh reality for many people that love soaking up the sun, however genetics and gene mutation may be playing a larger role in the development of carcinomas. Almost everyone has experienced a sunburn from staying out at the beach for too long, or not reapplying the appropriate amount of sunscreen. The damage that UVA and UVB rays can do to the integumentary system in a short period of time can cause life changing effects. Genetic mutations are sometimes caused by outside sources such as UVB rays, and other times linked to hereditary factors. In recent studies, direct links have been found between melanoma and specific hereditary genes that they believe are responsible. A gene is mutated when one or more cells change and create an abnormal protein in response to the change. With what I have learned in previous units about DNA replication, once a gene is replicated, it will continue to replicate its adapted form, this is important because this is how the mutated gene is being replicated at a cellular level. The bad cells are now being copied and replicated. The genetic mutations that pose the greatest risk of developing skin cancer are CDK4 and CDKN2A gene mutations. These two mutations effect the tumor suppressor, and stop the cell from performing its normal job. Gene mutations can be germ-line meaning passed from parent to offspring if they are hereditary. Genes can also be mutated by outside sources such a light beds...
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