Genetic Disorders: Marfan Syndrome

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My chosen disorder is Marfan syndrome. A model organism used to study Marfan syndrome are mice. In humans, Marfan syndrome is caused by the lack of FBN1 protein production, due to a fibrillin-1-gene mutation. Mice are often used in studying Marfan syndrome since they are easily taken care of, have a high reproduction rate, and have a fully shotgun sequenced genome. Scientists are able to view genetic mutations in mice and see how mutations in the genome correlate to mutation phenotypes. In the research paper, A new Mouse Model for Marfan Syndrome Presents Phenotypic Variability Associated with the Genetic Background and Overall Levels of Fbn1 Expression, a group of scientists utilized a mouse model to further investigate the relationship

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Marfan Syndrome Research Paper

Marfans syndrome is a rare genetic disorder that affects the body’s connective tissue. This disorder specifically affects the heart, eyes, blood vessels, and bones. French pediatrician, Antoine Marfan, first described this abnormality as, a mutation in the gene which causes a defect in the production of fibrillin. Fibrillin is the main tool needed in connective tissue. The most life threating part of this disorder is the heart abnormalities because of the weakening of the root to the aorta. While…

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Adipogenesis Lab Report

The FBN2 gene mutation is responsible for CCA (congenital contractual arachnodactyly). Arachnodactyly is a symptom of several heritable disorders of connective tissue (HDCTs)(14). Marfan syndrome just happens to be one of the most common and well known genetic disorders causing arachnodactyly. Marfan syndrome as well as CCA are mostly caused by an autosomal dominant mutation(15), with MFS being autosomal dominant in the FBN-1 gene approximately 90% of the time(16). Both…

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Essay about Marfan Syndrome and Single Base Mutation

Questions for Paper 1: Marfan Syndrome 1. What is the species that your condition affects? Introduce your species – tell me something about it such as its common name, where it lives, how it reproduces, etc. - Species: Homo Sapiens - Common Name: Humans - Where it lives: Earth - How it reproduces: SEX 2. What is your genetic condition? Introduce the name of the condition, what this means phenotypically for a patient with this condition, etc. - Name: Marfan Syndrome - Phenotypically:…

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Divide The Disorders Below Between The People On Your Team.

Name _____________________________________ Date ______________________ Hour ______ GENETIC DISORDERS – Divide the disorders below between the people on your team. You will have 20 minutes to fill out the chart for each disorder. After the 20 minutes you will then share the disorders with each member of your team. Name of Disorder Achondroplasia Brendan Cause Mutation of the FGFR3 (Fibroblast Growth Factor Receptor 3) Gene on Chromosome 4. Color Blindness X CHROMOSOME MUTATION, CAN BE MUTATIONS…

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Bio Notes Essays

1. This theory stated that offspring would have traits intermediate between those of the parents. 2. Red and white flowers produce _____pink____________ flowers; any return to red or white offspring was considered instability in the genetic material. 3. Charles Darwin wanted to develop a theory of evolution based on hereditary principles; blending theory was of no help. a. A blending theory did not account for variation (differences) and could not explain species diversity…

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Essay on lol.xD

vulnerable to infection, meaning antibiotic prophylaxis is necessary. For example, people with the blood disorder sickle cell anaemia often have to take antibiotics for the rest of their lives as their spleen does not work properly. (The spleen plays an important role in filtering out harmful bacteria from the blood.) Pedigree analysis Doctors can use a pedigree analysis chart to show genetic disorders are inherited in a family. They can use this to work out the probability (chance) that someone in…

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Tissues: Epithelium and Connective Tissue Essay

Tissues 1. Muscle Ca+ ions controls muscle contractions of all muscle types 2. Nervous 3. Epithelial  function: gas exchange, reabsorption, cleaning of the respiratory system 4. Connective Tissues Muscle Tissue:  a contractile tissue of the body and is derived from the MESODERMAL layer of embryonic germ cells. It is classified as skeletal, cardiac, or smooth muscle, and its function is to produce force and cause motion, either locomotion or movement within internal organs Skeletal muscle:…

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Cardiac Disorders Essay

CARDIAC DISORDERS DISORDER WHAT IT IS S & S TREATMENT/NURSING INTERVENTIONS MEDS EXTRA NOTES CORONARY HEART DISEASE/ CORONARY ARTERY DISEASE IMPAIRED BLOOD FLOW TO THE MYOCARDIUM BY ATHEROSCLEROTIC PLAQUE BUILD-UP IN THE CORONARY ARTERIES. MAY BE ASYMPTOMATIC CAN LEAD TO ANGINA PECTORIS, ACUTE CORONARY SYNDROME, MI, DYSRYTHMIAS, HEART FAILURE, OR SUDDEN DEATH. ASSESS CARDIAC AND RESPIRATORY STATUS, VITALS, ANY MANIFESTATIONS OF PAIN, SOB, OR CHEST PAIN. ENCOURAGE LIFESTYLE CHANGES TO INCLUDE…

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Presidential and Parliamentary Essays

Section 2 • Matter is anything that occupies space and has mass. • There are three states of matter: gas, liquid, and solids Same # of protons as electrons • Atoms are composed of subatomic particles • A proton is positively charged • Electron is negatively charged • Neutron is electrically neutral • Electrons rotate and orbit the nucleus Elements • atoms differ in numbers of subatomic particles Neutrons: • no charge Isotopes • Forms of an element that differ in the number…

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