Neurofibromatosis is an autosomal dominant genetic disorder that causes tumors to form in and on the brain‚ spinal cord‚ and nerves. This disorder is diagnosed by a number of tests‚ such as physical examinations‚ CT scans‚ MRI’s‚ and genetic testing. Researching medical and family histories can also be helpful. Neurofibromatosis cannot be cured; however‚ treatments may help. Treatments can include chemotherapy‚ radiation therapy‚ or surgeries‚ such as laminectomies and spinal fusions. Some people
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Sickle cell disease (SCD) is a group of inherited conditions that affect the red blood cells. People affected with sickle cell disease produce abnormally shaped red blood cells that causes health problems. Sickle cell disease is caused by a defective gene passed on from the parent to the child. Sickle cell disease is condition that is considered serious and lifelong. People of African descent are mainly affected with sickle cell disease in addition to ‚ Caribbean‚ Middle Eastern‚ Eastern Mediterranean
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Introduction Williams Syndrome‚ also known as Williams-Beuren disorder is a congenital genetic disorder characterized by a deletion in parts of chromosome 7. It is “a multisystem disorder‚ caused by deletion of the Williams-Beuren syndrome chromosome region‚ spanning 1.5 to 1.8 million base pairs and containing 26 to 28 genes.” (Pober‚ 2010‚ p 239) Demographics Williams Syndrome affects 1 in 10‚000 children throughout the world and an estimated 20‚000 to 30‚000 in the United States. (Williams Syndrome
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As stated above the androgen receptor-coding gene is located in band Xq11-q12 on the long arm of the (X) chromosome. This portion of the X chromosome is about 90kb and contains 8 exons that code 919 amino acids with a mass of approximately 110kDa. These many amino acids determine the structure of the transcription factor protein involved in steroid-hormone activation. The androgen receptor has several functional domains‚ which are inconsistently classified among various literature. In general the
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In a study conducted by Ratner and Miller (1959) the topic was to demonstrate classical conditioning with earthworms. The subjects of the experiment were 32 earthworms. In this experiment the unconditioned stimulus was the bright light‚ the conditioned stimulus was the vibration‚ the unconditioned response and the conditioned response was the responsiveness. The earthworms were broken down into four groups by random selection. Presented with the light for 2 seconds‚ which overlapped with the conditioned
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Early discovery is key when fighting a disease like Turner’s syndrome. In 1938 a gentleman named Henry Turner diagnosed the first set of patients with he believed was‚ “Turner’s syndrome” (Turner Syndrome Society of the United States‚ n.d.). At this time Mr. Turner was looking to explain why these‚ seven‚ people had been suffering from dwarfism and a developmental defect sexually. Unfortunately‚ there were probably thousands of people who were not diagnosed‚ and lacked the information needed for
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Introduction Aging is a deleterious‚ progressive and irreversible cascade of changes in an organism. In humans‚ biological aging falls under two categories of theories: the programmed aging and the damage theories. Programmed aging theories include the programming of genes‚ hormones and the immune system to regulate aging‚ while the damage theories concern free radicals and wear and tear (Jin‚ 2010). Damage to molecules‚ cells and organs always accompany aging‚ resulting in age-related diseases.
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Enzymes are important to the body and the development of our metabolisms. Enzymes are what makes the body get the proper energy source for our growth and development. If enzymes are lacking or missing it can cause diseases and birth defects. There are many different types of diseases that come from having a defective enzyme. Among the many‚ Lysosomal storage disorder (LSD) is an inherited autosomal recessive gene disorder. Meaning that it is an inherited disorder that has come from both parents.
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Phenotypes are the representations of gene activity in an individual; they are the physical characteristics rather than the genetic makeup itself. Though phenotypes are determined by genetic code‚ they are not permanent; they can shift and change according to the different environments an individual experiences in their life. Environmental factors are an integral part in determining phenotype. The fairly new scientific field on this subject is known as epigenetics‚ and it “serves as a link between
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Sickle-Cell Disease Greatly affecting the body’s oxygen levels due to mutated red blood cells‚ sickle-cell disease‚ influences an individual’s childhood in multiple ways: cognitive‚ social‚ emotional‚ and physical development. Sickle-cell disease (SCD) refers to an inherited disorder where abnormal hemoglobin is present in one’s red blood cells. Hemoglobin is the protein in red blood cells responsible for carrying oxygen throughout the body. The deformed sickle hemoglobin in people with SCD can form
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