Background Osteogenesis Imperfecta (OI)‚ also known as brittle bone disease‚ is a genetic mutation. I chose Osteogenesis Imperfecta because I wanted to inform the people about the seriousness of this disease. People with this disease have weak bones due to a mutation affecting the collagen in the body. This causes people to have fragile bones‚ which will fracture easily. People may also be very short because of their weak bones. Types of this condition can be mild‚ it can also be very severe. This
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Osteogenesis Imperfecta: Brittle Bone Disease Sami Gizara Lakeland High School Honors Biology Block 6 March 10‚ 2013 Current Applications in Science Abstract (Summary and Background) Osteogenesis Imperfecta was a severe‚ congenital genetic disorder which can cause the human bones to be extremely delicate. This disease is caused by a mutation(whether it be deletion or duplication) in chromosome 17q21‚ 31-q22‚ 7q22.1‚ which are the chromosomes that help the body produce the proteins
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found in a person’s genes is Osteogenesis
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contains war‚ greed‚ sickness. Osteogenesis Imperfecta (OI) is a group of genetic disorder that attacks the bones‚ making them fragile and weak‚ easy to break. Throughout a person’s lifetime with OI‚ a person may experience a few fractures to common breaks in the bone‚ due to trauma or everyday tasks. Different types of OI have been established to accommodate the wide range of the disease‚ from Type I to Type VIII. Because of those with more severe Osteogenesis Imperfecta‚ people have begun referring
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Osteogenesis Imperfecta (OI) is a bone disease that is also known as brittle bone disease. It is a genetic disorder that can affect extra skeletal tissues‚ teeth‚ and heart valves. Mostly though‚ this disease affects bones and muscles. The bones become very fragile and very breakable as well as the muscles become very weak. All of these things happen as a result of one out of two genes that carry the instructions for type one collagen‚ this collagen is what carries these deformities. These genes
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ABSTRACT Osteogenesis Imperfecta Dominant and Recessive Pattern Background Osteogenesis Imperfecta (OI) is heterogenous genetic disorder in the type I collagen and is characterized by susceptibility bone fragility and fractures with variable severity and presumed or proven defect in type I collagen biosynthesis. Type I collagen is the abundant protein composing the extracellular matrix of bone and skin in human body. There are 3 pathogenesis mechanisms of OI: 85-90% of individuals with OI
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Osteogenesis Imperfecta (OI) is known as brittle bone disease‚ and is a genetic disorder in which an individual has weakened bones that may fracture in situations of minor to inexplicable trauma. OI spans from a slight degree to the more critical cases which may lead to death moments after their delivery or prior to their existence (“Learning About Osteogenesis Imperfecta‚” 2012). No two people suffering from this condition share the same measure of difficulty. In fact‚ though there are various forms
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The following will cover the effects‚ causes and the treatments for the genetic disorder‚ Osteogenesis Imperfecta. The term Osteogenesis Imperfecta means imperfect bone formation. Also known as brittle bone disease‚ OI‚ and Vrolik disease‚ osteogenesis imperfecta causes people to have weak bones. OI can also affect the body in other ways such as hearing‚ bone deformities‚ loose joints‚ discolored sclera( the whites of your eyes)‚ and spine curvature. The severity of the disease can vary depending
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Contents Section 1 Title: The Genes of Osteogenesis Imperfecta 3 Section 2 Title: Pathogenesis of Myotonic Dystrophy Type 1 and Type 2 6 Section 3 Title: Huntington Disease Genetics 8 Section 4 Title: The major forms of Glycogen Storage Disease types I‚ III and IX 11 Section 1 Title: The Genes of Osteogenesis Imperfecta (word count = 568) Osteogenesis Imperfecta (OI) is caused by different genes; COL1A1‚ COL1A2‚ CRTAP
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may become untidy‚ unreadable‚ may not even make any since or may not even get done at all. As for the child there may show sings like the ones above. Health: Some people may have health problem like allergies‚ brittle bones disease (osteogenesis imperfecta)‚ may not have the use of there arms or legs or may even have problems with there eyes. If the child has any of these then the child as well as the parent/carer may have trouble with their development in life. This could be due
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