...Blvd, Houston, TX 77030; email mlfrazier@notes .mdacc.tmc.edu. INTRODUCTION IT IS POSSIBLE TO test selected subjects for germline mutations in genes causing familial adenomatous polyposis (FAP),1 hereditary nonpolyposis colorectal cancer(HNPCC),2-8 Peutz-Jeghers syndrome,9,10 and juvenile polyposis.11-13 Because the genes that are mutated in familial colorectal cancer syndromes can be mutated at a variety of different locations, assays for mutation detection are not simple. Many different approaches to mutation detection have been described in the literature, some of which are also described here. Specific strategies for testing are also discussed. THE BASICS Isolation of DNA and Polymerase Chain Reaction (PCR) DNA or RNA for genetic testing is almost always isolated from peripheral-blood leukocytes. This requires that the blood be drawn in tubes containing some sort of anticoagulant. The preferred anticoagulants are either citrate or EDTA. The cells are lysed followed by removal of the other cellular components and precipitation of the DNA or RNA in ethanol. One of the drawbacks of this approach is that the blood must be rapidly transported to the laboratory where the testing will be performed before the nucleic acids begin to degrade. Recent developments in filter paper technology show promise in obviating this problem. Special filter papers...
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...relationship to modern humans,I ask myself the simple question: what was the cause of Neanderthals extinction? Modern scientific technology and the ability to test DNA from our ancient ancestors bones are helping us get closer to explaining this phenomenon. According to Charles Q. Choi, a contributor for Live Science states, “about 1.5 to 2.1 percent of anyone outside Africa is Neanderthal in origin” (Choi, 2014). With roughly 2 percent of Neanderthal DNA in my genetic makeup, it makes sense that modern humans were involved in the extinction of the Neanderthal identity. As stated by many researchers before, neanderthals did not go extinct due to modern humans. New research is proving this claim false. Recently, researchers from the University of Cambridge and Oxford have identified the possibility of diseases are older than what we believed possible. New studies taken from pathogen genomes and DNA of ancient neanderthal bones are showing that diseases were part of neanderthals extinction (Houldcroft, 2016). With neanderthals DNA being similar to modern humans, they were susceptible to pass genes and inherit bad mutations. In the long run these bad mutations caused many problems within their population. Bad mutations are passed between individuals by way of sexual connectivity. With neanderthal DNA being part of...
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...Causes Cancer and What Makes it Worse? Cancer is a prodigious complication to the health and lifestyles of a multitude of people all across the world. Scientists and researchers have come together and spent countless hours finding out what exactly causes cancer and how it can be stopped. In this paper I will explain what cancer is, how it occurs, and how it spreads in relation to DNA replication, the cell cycle, and the plasma membrane. The cell cycle is an important order of events in which a eukaryotic cell replicates its chromosomes into two daughter cells and then undergoes division of the cytoplasm (G:5). In cell division there are different checkpoints a cell has to go through and pass in order to continue the process of cell division. The checkpoints are G1, S, and G2. Cancer forms when one of the checkpoints have failed. In DNA replication the use of existing DNA is used as a template for the creation of new DNA strands. Errors in DNA replication are a cause in cancer. Errors can occur when the nucleotides do not pair correctly with one another. According to Dr. Pray in the research she conducted she found out that “In humans, if enough somatic mutations (i.e., mutations in body cells rather than sperm or egg cells) accumulate over the course of a person's lifetime, the end result could be cancer.” Roberts 2 Another factor in causing cancer could be the plasma membranes fluidity. The plasma membrane is a membrane that surrounds the cell, separating it from the...
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...our DNA or genetic material may be a predictive factor for disease probability. This has lead to the development of genetic testing after the isolation of certain candidate genes. Although predictive genetic screening is only available for a selective number of diseases, its ramifications have become hot topics for debated issues in a broad range of arenas from governmental agencies to religious applications. (1). This debate began in 1993 when researchers isolated the BRCA1 gene, which is associated with the increased risk of developing breast cancer (1). The discovery of this gene leads to hope and speculation for development of a predictive genetic test that could identify women at risk for developing breast cancer. The purpose of my paper is to delve into the positives and negatives of predictive genetic testing, as it is applied to breast cancer precursors. INTRODUCTION Before I go into details about how these genetic tests were developed, I want to first discuss how certain genes can trigger an inactive disease. The human body requires the actions of many proteins working together. For a protein to work properly, an intact gene must be encoded for a specific protein. A mutation describes a gene which has genetically been altered or changed. The most common type of mutation is a single change of a nucleotide in the DNA, but there are also other types of mutations, including loss or gain of a nucleotide, which is the disappearance of a segment of DNA (2). Mutations can...
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...cancer by damage to deoxyribonucleic acid (DNA) cells. DNA is the source of life which is stored inside the nucleus of every cell that makes up a living organism. To be able to fit inside a 10-micrometer average size cell, 10-meter long DNA has to be packed into a complex structure which is known as chromatin. Nucleosome is DNA wrapping around histone octamers and chromatin is form when nucleosomes in a nucleus compact together (Yu et al. 2011). At the chromatin level, it compacts to protect DNA from stresses after a short period of time (Interview with Dr. Michael Bergel 2015; unreferenced, see “Acknowledgements”). DNA fails to repair or kill itself (apoptosis) after being damaged which will causes DNA mutation. DNA mutation in a certain gene can make cells grow “out of control”. In human cells, the process of repairing DNA damage which occurs within chromatin is called Nucleotide Excision Repair (NER). Increasing age will decrease DNA ability to repair itself; this explains why a majority of cancer patients appear to be older adults. Ultraviolet radiation (UV radiation) is the main cause of skin cancer. Chromatin in skin cells after UV irradiation are found to...
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...or inheritance are features that are transmitted genetically from parents to their children or offspring. DNA or genetics was first discovered in 1869 by Friedrich Miescher after finding a phosphorus matter inside of the nuclei which was named deoxyribonucleic acid. DNA is a self-replicating material and is present in all living organisms. It is the carrier of genetic information. This report will be explore the ideas of scientists that help form our current understanding of DNA as well as comparing their ideas to others. Throughout history many scientist have made discoveries that contributed to our current understanding today. In this report we will be comparing the findings and technology of Walter Sutton, Thomas Hunt Morgan, Oswald Avery and Alfred Hershey....
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...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. As far as we know, we are the only creatures on the planet that have figured this out. The members of our species who get...
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...manipulation of DNA to alter an organism’s characteristics in a particular way. The following are some important facts one needs to know on this topic. Genetic engineering can mean deleting DNA to get rid of undesired traits or introducing new genes to get desired traits, but it can also mean combining DNA from separate people. We can begin by talking about the Human Genome Project. The Human Genome Project (HGP) was an international research effort to determine the DNA sequence of the entire human genome. HGP researchers untangled the human genome using three tools: producing what are called linkage maps, through which inherited traits (such as those for genetic disease) can be tracked over generations; making maps that show the locations of genes for major sections of all our chromosomes; and determining the order, or "sequence," of all the bases in our genome's DNA. The research revealed that there are probably somewhere around 30,000 human genes and has given the world detailed information about the structure, organization and function of the human genes and other functional components found in DNA. This information can be seen as the basic set of inheritable "instructions" for the development and function of a human being. From the HGP, we discovered information that helped in the research of genetic engineering. The uses for genetic engineering range from scientific research to agriculture and technology. Although we will focus on human genetic engineering in this paper, genetic...
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...to deal with the stresses of life, thus prolonging their healthy status, or that the key to living a century and beyond resides very simply in healthy living, which includes regular exercise, and avoiding the detrimental effects of smoking, alcohol, and foods that contribute to overall poor health. In all likelihood, there exists a complex interaction between these factors. The purpose of this paper was to analyze the data and investigate many of the factors that contribute to human longevity. The first and longest study of centenarians centered around the centenarian population of Okinawa, a tiny island in Japan that is isolated culturally and geographically from the rest of the country, and not subjected to acculturation. The Okinawans live a distinctive lifestyle that includes social identity, language, and religion, as well as dietary habits, physical activities, and art forms. The centenarians of Okinawa typically marry and bear children with individuals residing primarily on their own island, which suggests a high rate of inbreeding that may contribute to genetic mutations responsible for long life. An analysis of the data illustrates that the ApoE (apoplioprotein) gene is a possible contributor to human longevity, specifically ApoE2, whereas ApoE4 is associated with Alzheimer’s disease. Centenarians in Okinawa have relatively low rates of dementia compared to other elderly populations. Okinawa centenarians also possess a polymorphism of human leukocyte antigen (HLA)...
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...intimate skin-to-skin contact. Preventions have been implemented to raise awareness of the virus. The first vaccine for HPV approved as a widespread use in the US was in 2006. The virus acts to infect the keratinocytes in the skin and mucosal membrane. Other areas the HPV acts as a carcinogen are the cervix, anus, penis, vulva, vagina, oropharynx, benign genital and cutaneous warts, respiratory papillomatosis, and nasal or oral papilloma. Some researchers have concluded that the HPV infection which is more common during the active period of age is directly related to certain cancers. Researchers have found that HPV is associated with certain types of cancers and also have found that HPV can have no association with certain cancers. The research we did will explain the various cancers associated with HPV and attempt to answer the question “is HPV the leading cause of cancer?” In the United Stated and around the world, cancer is and continues to be a very serious disease that affects millions of people. Head and neck cancers are “the sixth most common cancer in the world” (Lajer et al. 2012). While the link between HPV and cervical cancer has been established; it is still unclear to researchers how HPV is related to head and neck cancer. The authors assert that alcohol and tobacco used to be the main cause of head and neck cancer; however, there has been a decrease in the tobacco-alcohol induced cancers, yet there is an increase in the prevalence of cancer (Lajer et al. 2012)...
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...perfect example of such attempts. In nature, cloning is the process by which genetically identical organisms are produced by way of asexual reproduction. With some success, scientists have been working on ways to reproduce this phenomenon through biotechnology, in a laboratory setting. In biotechnology, cloning refers to the process used to create copies of DNA, cells, or entire organisms. Each of these forms of cloning will be described in this paper, which will then explore the issues surrounding cloning from biological, technological and public health standpoints. Molecular cloning, or DNA cloning, is the process of making multiple copies of an isolated sequence of DNA fragments (Strachan & Read, 1999). This form of cloning is most often used in biological research, but is also used in more practical applications such as genetic profiling and protein production. In practice, techniques such as this are often used producing vaccines and researching cures to common ailments. Molecular cloning isolates a desired segment of a DNA and links this fragment to a primary DNA sequence that is capable of replicating itself and the fragment DNA linked to it. Once this new DNA sequence has been formed, it is then inserted into a cell which will make identical genetic copies of the...
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...authorship are not allowed without the approval of the responsible editor. In such a case, please contact us for futher advice. · If we do not receive your corrections within 48 hours, we will send you a reminder. · The final versions of your article will be published around one week after receipt of your corrected proofs. Jaworek et al. Orphanet Journal of Rare Diseases 2012, 7:44 http://www.ojrd.com/content/7/1/44 1 2 3 4 5 6 7 RESEARCH Open Access Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population Thomas J Jaworek1, Tasleem Kausar2, Shannon M Bell1, Nabeela Tariq2, Muhammad Imran Maqsood2, Asma Sohail2, Muhmmmad Ali2, Furhan Iqbal2, Shafqat Rasool3, Saima Riazuddin1,4,5,6, Rehan S Shaikh2,8* and Zubair M Ahmed1,2,4,5,6,7* 8 Abstract 9 Background: Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR,...
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...Fagan © Earth Open Source www.earthopensource.org 2nd Floor 145–157, St John Street, London EC1V 4PY, United Kingdom Contact email: claire.robinson@earthopensource.org June 2012 Disclaimer The views and opinions expressed in this paper, or otherwise published by EOS, are those of the authors and do not represent the official policy, position, or views of other organizations, universities, companies, or corporations that the authors may be affiliated with. GMO Myths and Truths 2 About the authors Michael Antoniou, PhD is reader in molecular genetics and head, Gene Expression and Therapy Group, King’s Cols: lege London School of Medicine, London, UK. He has 28 years’ experience in the use of genetic engineering technology investigating gene organisation and control, with over 40 peer reviewed publications of original work, and holds inventor status on a number of gene expression biotechnology patents. Dr Antoniou has a large network of collaborators in industry and academia who are making use of his discoveries in gene control mechanisms for the production of research, diagnostic and therapeutic products and safe and efficacious human somatic gene therapy for inherited and acquired genetic disorders. Claire Robinson, MPhil, is research director at Earth Open Source. She has a background in investigative reporting and the communication of topics relating to public health, science and policy, and the environment. She is an editor at GMWatch (www.gmwatch.org), a public...
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...Integrated Natural Science (INT1) Task 1 The Changing Nature Of Science Evolution Evolution :- All living beings have developed over time from ancestors through a series of changes. That life has changed over long periods of time, with all forms of life related to one another, is a scientifically well-established fact. There are two aspects of evolution today. First, evolution is the organizing principle for all of biology. Just as we are offspring from our parents, and our grandparents before them, and so on, all living organisms today are inclined from organisms that lived in the past. Understanding how and why these ancestor-descendent lineages have changed through time helps us appreciate the diversity of life we see today. Genetics, anatomy, physiology, neurology, morphology, and behavior all of these aspects of living organisms have evolved through time. The study of the evolutionary processes that produced these traits provides the comprehensive framework for understanding them. Theory Of Evolution Evolution Theory: - Evolution is technically defined as: "a gradual process in which something changes into a different and usually more complex or better form." As it is most famously used, "evolution" is the process by which an organism becomes more sophisticated over time and in response to its environment. The Theory of Evolution is currently the most popular concept of how life reached its current state. Evolution as a biological mechanism is driven by natural...
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...Theory of Evolution Charles Darwin was a British Scientist who lived from 1809 to 1882. He laid down the foundation of modern evolutionary theory with his concept of the development of life through the slow working process of natural selection. Darwin started to make notes about this theory in 1836 and in 1838 he had arrived at a sketch of a theory of evolution through natural selection. It was not until 1858 that his theory was first published in a paper. Darwin’s theory states that as plants or animals spread to new areas, or as the conditions change different variations would be favored in different places. This would mean these variations would spread through the populations of the plants or animals. Over time this would finally lead to a development of new species. This theory was explained in the book ‘The Origin of Species’, which describes his studies on the Galapagos Islands in the Pacific Ocean. He noticed that the species on the islands varied slightly from each island and were adapted to local conditions. The reaction to this theory was immediate. Biologists argued that Darwin could not prove his hypothesis. Others criticized his ideas of variation and how he could not prove how these variations came about or how they were passed on. This part of his theory was not answered until the birth of modern genetics in the early 20th century. In fact many scientists had doubts about this theory for 50-80 years. The most publicized attacks came from religious opponents who...
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