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    BRCA Test Debate

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    breast cancer and mutations in the human genome. Researchers have discovered two genes in which mutations are associated with a high risk for the development of certain cancers, particularly breast and ovarian cancer. The BRCA1 and BRCA2 genes on chromosome 17 produce tumor suppressor proteins that repair damaged DNA to ensure the stability of the cell’s genetic material. It is important to note that everyone has the BRCA1 and BRCA2 genes. However, there are specific mutations in each gene that

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    The novel Survival of the Sickest by Dr. Sharon Moalem did a great job of exploring and explaining the history of the evolution of modern genetic diseases. The author research and explain the underlying evolutionary mechanisms of past human genetic history and adaptations that support why modern humans still have these heritable genetic diseases. There are many factors that play the role of how an individual or a population inherited a certain genetic disease. Some of these factors are relatively

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    Neurofibromatosis - Georgie and Jennifer. Brief Definition - Neurofibromatosis is a genetic disease in which patients develop multiple soft tumours underneath the skin and in the nervous system. Neurofibromatosis has two different types which are categorised due to the rarity and symptoms of the disease. Describe the characteristics of the genetic disease: What are the symptoms? Neurofibromatosis is categorised into two different types, NF1 and NF2. The symptoms are one of the two things that separate

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    different than others. Sometimes they are severely affected and sometimes it is hardly noticeable. The syndrome is something that is not passed down through sexual reproduction or asexual. Treacher Collins is a disease that is caused from a genetic mutation in the TCOFI, POLRIC, and POLRID gene. Some symptoms are slanted eyes, vision loss, and hearing loss. The Treacher Collins disease is not treatable but can be made easier for everyday life. Tests like the cleft palate repair, external ear

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    may go undiagnosed when they present with a mild case of NS; therefore, the prevalence of NS could actually be higher (Wingbermuhle, Egger, Verhoeven, Burgt, & Kessels, 2011). Research has been done to target the specific gene mutation found in Noonan Syndrome. The mutation which causes the syndrome was found in the “RAS-Mitogen-Activated Protein Kinase (RAS-MAPK),” (Pierpont, Tworog-Dube, & Roberts,

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    Xeroderma Pigmentosum is a genetic disorder that causes hypersensitivity to the skin by exposing to UVB radiation. Skin, eyes, and nerves are the sites where the symptoms appear. In XP, DNA goes under mutation in the genes that repair that DNA. XP can be treated in various ways such as minimizing the exposure to the sun and chemical materials, protection using certain materials and surgical removal of tumors, and genetic counseling for patients and families. Introduction Xeroderma Pigmentosum

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    common inherited disorder in the world that represents a major public concern. It is characterized by a defect in the genes responsible for production of hemoglobin. Hemoglobin is a protein that consists of alpha and beta chains. If the genetic mutations prevent any formation of beta chains then beta-thalassemia occurs which involves abnormal development of red blood cells and eventually anemia (1, 2). Children born with thalassemia major are normal at birth, but develop severe anemia during the

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    Lab Section: 5-digit number: 15836 Date: 9/12/2015 TA Instructor Name: Igor Bado Writing Assignment 1: Description of Unknown Mutant Allele Phenotype Based on our results we conclude our Drosophila melanogaster 489 mutant expressed an eye mutation, named “rust”, because the pigmentation of the eye appeared dark brown compared to the bright red eye seen in the wild type flies. After comparing wild type and mutant flies, no differences were apparent during the larva and pupa stages. Newly- enclosed

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    breast cancer. 40% breast cancer is caused by Cowdin syndrome. And it is caused by mutation in PTEN gene. Now mutations of this gene are controlled by inserting the IPTEN gene which is discovered in model organism Dicyostelium discoideum. This gene have the ability to suppress the mutations that are found in PTEN gene. Methodology: • DNA extraction • Gene isolation by using restriction enzymes • Induced PTEN mutation in Mice to induce Cowdin syndrome • Insertion of IPTEN gene in

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    Aarskog Syndrome Description Aarskog syndrome (also known as Aarskog–Scott syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person 's height, muscles, skeleton, genitals, and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately, Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome

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    It 's not clear what causes ovarian cancer. In general, cancer begins when a genetic mutation turns normal cells into abnormal cancer cells. Cancer cells quickly multiply, forming a mass (tumor). They can in. The type of cell where the cancer begins determines the type of ovarian cancer you have. Ovarian cancer types include:Epithelial tumors

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    Harlequin Ichthyosis (HI) is an uncommon genetic disorder due to high quantity of mutations on gene ABCA12. HI infected newborns will have dry and tough outer skin coverings that crack into different plates and create deep fissures that lead to major pain on the skin and are highly prone to infections (Akiyama). Usually, couples who are carriers for HI disease are healthy and do not show signs of HI. However, both carriers of this autosomal recessive disorder will have about 25% chance of conceiving

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    they are around 20 to 40 years old. The disease has a possibility of manifesting earlier than 20 years old, which is known as Juvenile Huntington’s Disease. This disease is inherited, the children have a fifty percent chance of contracting the DNA mutation from their parents. After reading through many articles, books, websites trying to understand

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    Generally there are two common types of mutation in gene that can be classified as gene mutation and chromosomal mutation. Genetic mutation involves the changes in the composition of the DNA molecules or gene itself resulting in the alteration in their chemical structure and composition. The modification in the chemical structure will then lead to the change in the function of the genes. When there is a gene mutation in our body cells, all these altered genes will then be passed down to the children

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    The four fources of evolution are; natural selection, mutation, gene flow and genetic drift. Natural Selection consist a process in which the best adapted organism reproduce the most offspring and have better survival rates. These "best adaptive" traits carry forward to their offspring at a higher frequency. Mutation are random changes in an organisms DNA that impact traits of the organism in a good, bad or neutral way. The changes are heritable and are a result of additions, deletions or substitution

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    toxic substances in the liver, brain, and kidneys. The most common features the zellweger syndrome patients include swell liver, high levels of copper and iron in the blood, and vision disturbances. This disorder results from the inheritance by 2 mutations genes for one of the receptors (PXR1) needed to import proteins into the peroxisome. Then the peroxisome enzymes become unable to enter the peroxisome and long chain fatty acids cannot be metabolized and hydrogen peroxide just stable to affect the

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    Marfan Syndrome Essay

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    they are unrelated but they are all affected by a mutation in a single gene on Chromosome 15. This gene is named FBN1 for the protein it encodes, fibrillin-1. What causes this mutation is the amino acids that builds proteins mix up a certain code on each protein and it makes the wrong amino acids that are put on the proteins. Marfan’s Syndrome can be inherited if one of the parents is affected but only ¼ of the case are from spontaneous mutations. The most serious problem that Marfan syndrome can

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    Essay On Achondroplasia

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    per year) yet the most common (occurring at one in every 15,000 to one in 40,000 live births) hereditary form of short-limbed dwarfism. Achondroplasia can be inherited from a parent with the disease, however most cases of ACH are because of new mutations in the FGFR3 gene. (Over 80% of people with ACH have parents who are unaffected). People with achondroplasia have a short stature and normal sized torso. An adult male with achondroplasia averages at about 131 centimeters (4 feet, 4 inches) in height

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    offspring while others are caused by acquired mutation or changes in an already existing gene. Mutations can take place randomly or due to some environmental factors. There are different modes of genetic disorders that include single gene and multifactorial inheritance, chromosome abnormalities, and mitochondrial inheritance. A genetic disease is caused by an abnormality in an individual’s genetic structure. This idiosyncrancy can range from a mild mutation involving a single gene to a gross abnormality

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    (1) Epidemiology The lesch-Nyhan disease, it is a rare genetic disorder that can be transmitted at birth. Estimate show that at birth it affect 1/380000 and 1/235000 live births. The lesch Nyhan syndrome is an x-linked recessive disease. The gene mutation or a mutant

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