FlashCards for Students

Genetic Disorders [Robbins and Cotran Review of Pathology (4E) CH5/Rubins Illustrated Pathology Review (2E) CH6]

Multiple members of a family have a disease that is associated with a genetic change that involves substitution of adenine for thymine involving one base pair on homologous chromosomes. What is the best term to describe this finding? A Copy number variation B Deletion C Epigenetic change D Single nucleotide polymorphism E Trinucleotide repeat mutation F RNA alterationD) Single nucleotide polymorphisms (SNPs) are found in less than 0.5% of the genome, and only 1% of these are found in coding regions that affect protein synthesis. Some of these account for point mutations that may be associated with disease conditions. C number variations (CNVs) involve variations in large contiguous regions of...

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The Implications of Genetic Engineering Essay Sample

The Implications of Genetic Engineering Essay Sample As the science of genetic engineering advances, it poses major ethical issues on which people are seriously divided. The argument in favor of proceeding with research at unrestrained pace is mainly advocated by scientists and medical experts who would like to see some fantastic therapeutic benefits that genetic engineering promises come to daylight. On the other side of the debate are people, sometimes led by religious groups, who are concerned we may going too far too fast. Spinoza, the great seventeenth century philosopher and the author of Ethics, said that “There is no hope unmingled with fear, and no fear unmingled with hope.” Genetic engineering offers enormous hopes — mingled with highly frightening prosp

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Ethics at the Beginning of Life: Prenatal Genetic Testing Essay Sample

Ethics at the Beginning of Life: Prenatal Genetic Testing Essay Sample Prenatal testing and genetic testing developed hand in hand. Many genes, the basic unit of heredity, are now known through the human genome project (Pence, 2011, pp. 273-274). Genetic testing can identify the existence of genes that carry potentially life impacting and threatening conditions. However, prenatal genetic testing can determine much more than simply the abnormalities or negative factors. It can indicate sex, hair and eye color, temperament, strength, and other tendencies within the womb. The knowledge of these predispositions can be used to select embryos with certain characteristics. At worst prenatal genetic testing can be used to apply discriminatory selective tactics or a process

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Genetic Tests that Can be Used for Synesthesia Patients

Background and Significance: Overview: Synesthesia is an intriguing neurological condition that is relatively rare and not well-researched. It comes in many different forms, but the common denominator in all the variations is “the automatic activation of unusual concurrent experiences in response to ordinary inducing stimuli.” In other words, the stimulation of one sensory system causes a response in a different, unrelated sensory system. Investigation into this phenomenon can allow for a deeper insight into the various sensory systems and their integration. Understanding synesthesia is important for learning more about the underlying brain structures and the development of our senses. Grapheme-color synesthesia is the most common form of synesthesia in which people v...

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Cystic Fibrosis: a genetic disease

Cystic Fibrosis is a genetic disease that creates issues in many of the organs. It has various effects and the level of severity varies for everyone affected. Cystic Fibrosis is a defective gene that causes the body to produce thick sticky mucus which will build up in the lungs, pancreas, and other organs. The mucus produced can clog the airways and traps bacteria leading to infections, extensive lung damage as well as respiratory failure. In the pancreas, it causes the mucus to prevent the release of digestive enzymes needed in order for the body to, break down food, and absorb vital nutrients. It is known as the most common fatal genetic disease affecting Canadian children and young adults.Those affected by this disease have a significantly shortened lifespan and hav...

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The genetic disorder of fibrodysplasia Essay Sample

The genetic disorder of fibrodysplasia Essay Sample The genetic disorder of fibrodysplasia ossificans progressiva has only been recorded about 2500 times since the 1800’s and believed to occur in approximately 1 in 2 million people worldwide (Molecular Consequences of the ACVR1R206H Mutation of Fibrodysplasia Ossificans Progressiva*). Fibrodysplasia ossificans progressiva or FOP is a disorder that makes muscle and connective tissue gradually get turned into bone which then in turn inhibits motion. Individuals that are born with FOP are generally born with malformed big toes, short thumbs and other skeletal abnormalities. These anomalies in characteristics help distinguish FOP from other bone and muscle problems. The extra- skeletal formation that is caused by a mut

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Genetic Testing Essay Sample

Genetic Testing Essay Sample When asked the question of whether or not I would consider undergoing genetic testing for knowledge of susceptibility to future genetic diseases, I have mixed feelings. I feel that there are definitely some beneficial factors to genetic testing. One benefit of genetic testing would be knowing if you were going to be prone to a certain preventable disease so you might be able to live a lifestyle that would help prevent acquiring a certain ailment. Another benefit of genetic testing would be knowing if your gene?s carried a life threatening disease that could be passed on to your children, and that could influence your decision on whether or not to bring a child into the world if he or she would have a life full of suffering and die at a

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The Genetic Information Nondiscrimination Act Essay Sample

The Genetic Information Nondiscrimination Act Essay Sample The Genetic Information Nondiscrimination Act passed and signed into law by President Bush in 2008 seeks to outlaw any inappropriate usage by employers and health insurers of individual genetic information. It prohibits the use by an employer of a person’s genetic information to decide his or her insurance premiums or the use of such information by employers in making their vital decisions that range from job placement, hiring or any other decisions that regard employees. The history of the Genetic Information Nondiscrimination Act dates back to the 104th Congress in 1995 where several bills were introduced by the likes of Mark Hatfield and Dianner Feinstein. The bills introduced then were closely related

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Genetic Discrimination Essay Sample

Genetic Discrimination Essay Sample Secret genetic testing at Burlington Northern and Santa Fe Railroad lead the Equal Employment Opportunity Commission (EEOC) to file a discrimination law suit against the company for potentially using the information obtained in these test against their employees. The Employment Opportunity Commission (EEOC) referenced the American Disability Act’s statement that “it is unlawful to conduct genetic testing with the intent to discriminate in the workplace” Burlington Northern and Santa Fe Railroad claimed that the testing was a way of determining whether the high incidence of repetitive-stress injuries (carpal tunnel) among its employees was work-related. Besides testing for HNPP, company-paid doctors also were instructed to screen

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Report on Spencer Wells’ The Journey of Man: A Genetic Odyssey Essay Sample

Report on Spencer Wells’ The Journey of Man: A Genetic Odyssey Essay Sample             Spencer Wells takes a very technical and academic subject and makes it not only understandable but interesting and enjoyable in his The Journey of Man: A Genetic Odyssey. As Wells is not simply an author explaining the work of others but a leading population geneticist his writing is authoritative and conveys his “insider’s” sense of curiosity and excitement. Journey describes the evolutionary history of man as well as man’s movement from origin in Africa to the rest of the globe and particularly how genetic science documents the journey. Additionally he describes the interrelationship between genetic science, physical evidence, and linguistic research in determining the paths

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