Pathophysiology of Cystic Fibrosis Cystic Fibrosis is the disorder associated with mutations in the CF trans membrane conductance regulator genes found on chromosome 7- and has been described as the most common lethal genetic disorder in Caucasians. This autosomal recessive disorder wreaks havoc on various epithelial lined organs but its manifestation in the lungs of the patient have been found to be the dominant source of morbidity and mortality. The CFTR gene functions as a regulator for salt
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• Curly x Wildtype “+” the wildtype (normal gene) and “Cy” the curly (mutant gene) 1. Given that Curly is a dominant trait, what percentage of these offspring should be expected to express the mutation (have curly wings)? B. 50% of the offspring are expected to have the curly wing mutation. 2. What percentage will have the normal (wildtype) wings? C. 50% of the offspring will have normal wildtype wings. 3. Organisms are called carriers of a gene if they do not express it themselves but they
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Before I talk about the differences and similarities I will talk about what these two diseases are. According to Marfan foundation, Marfan syndrome “is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grows and develops properly.” The connective tissue is made up of proteins. The protein of the tissue is called fibrillin-1. It is found in 1 out of 1,500 people
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What is Autopsy? What Anatomical Pathology do to perform an investigation of a death body? How are autopsies used to determine the cause of death? Autopsy is a postmortem examination to discover the cause of death or the extent of disease, the autopsy is performed by a medical examiner. It’s a systematic examination of the entire body to determine the manner and cause of death. It can be used on the external and internal surfaces of the body.Forensic pathology is a specialty of pathology that
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Alport Syndrome (AS) is an uncommon renal illness caused by alterations in type IV collagen. It was discovered in 1927 by Arthur Cecil Alport who was a physician, he identified the rare genetic illness in a British family with the syndrome. What draw his attention of the family was that the males in the family affected them more than the females of the family. The males developed progressive renal failure and deafness. Why is it that the females are less affected of the disease? Well there is a
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Introduction: Osteogenesis imperfecta (OI), also known as “brittle bone disease” is an infantile congenital disease caused by defects in Type 1 collagen biosynthesis. Unfortunately, infants with osteogenesis imperfecta have a poor prognosis because their bones are unable to mature properly. According to the national human genome research institute, osteogenesis imperfecta can vary from infant to infant. Furthermore, the national human genome states that OI occurs in “approximately 1 in 20,000 individuals
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Importance of DNA - A T2 Assessment Understanding what DNA is, is very important. DNA is the material that carries all the information about how a human will look (facial features, etc,.) and also how they will process daily. For example, DNA in humans determines things such as what color the eyes are, what color the hair is, and also what gender you are when a baby. DNA is found in the nucleus of almost all cells. DNA also does something called replicating nucleotides. If DNA never replicated
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out of genetic research until it's clear we're not going to use science to validate prejudices". McGriff also pointed out that she didn’t want the children in her or anyone’s family to be born thinking they were less than someone else based on their DNA. This type of discussions were followed by the geneticist James D. Nevertheless, another “expert” (Dr. Watson) made a further statement
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Saddles were a simple concept in the middle ages when they truly came to use for knights in battle. Today, saddles have a much different use. The type of saddle, and the needs it must fulfil, are also much different. Saddles originally had a tree, a wooden, or synthetic structure in the center of the saddle that allowed the saddle to keep a firm shape. Unfortunately, every horse's back is formed differently, and a simple sizing chart of regular, wide and narrow tree , is not broad enough for each
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Inflammation is the response of vascular tissue to injury, which results from an immune response to infectious microorganisms. Acute inflammation is the immediate response to vascular changes where the widespread effects of inflammatory mediators produce pain, heat and swelling, usually of short duration. Chronic inflammation is self-perpetuating and may last for weeks, months, or even years. It may develop as the result of a recurrent or progressive acute inflammatory process or from low-grade,
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