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Duchenne Muscular Dystrophy Muscular Dystrophy Association
745 wordsMuscular Dystrophy Scientists have been struggling with the cause, treatment of, and cure for Muscular dystrophy since its discovery in 1886, by Dr. Guillaume Duchenne. Muscular dystrophy is a hereditary disease, affecting thousands of people every year, two-thirds being children between the age of birth through adolescents. However, Muscular dystrophy can occur with no family history of the disease. Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose the...
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Cystic Fibrosis Autosomal Recessive
1,073 wordsCystic fibrosis is a debilitating disease facing many people today. At the present time there is no cure available. According to the cystic fibrosis foundation of America, cystic fibrosis can be traced back as early as 1595. The first documented case was not reported until 1936. One group of people that seem to be affected the most by cystic fibrosis is Caucasians. Recent statistics indicate that 1 in 3, 200 live caucasian births are afflicted with cystic fibrosis. For reasons that are currently...
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Autosomal Recessive Autosomal Dominant
1,092 wordsEhlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into detailed discussion on two of the six types of EDS. The two major types of EDS are Clas...
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Range Of Motion Autosomal Recessive
2,639 wordsOsteogenesis imperfecta (OI) is a rare genetic disorder of collagen synthesis associated with broad spectrum of musculoskeletal problems, most notably bowing and fractures of the extremities, muscle weakness, laxity in the ligaments, and spinal deformities. (Binder, 386). Other collagen-containing skeletal tissues, such as the scleral, the teeth, and the heart valves are also affected to a variable degree. OI has a common feature of bony fragility associated with defective formation of collagen ...
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Autosomal Recessive Lab Manual
1,318 wordsMapping Unknown Mutations Of Mutant Strain U 5914 Mapping Unknown Mutations Of Mutant Strain U 5914 D Abstract Unknown mutant strain U 5914 Drosophila melanogaster with 3 mutated phenotypes: white eyed, dark body color, and incomplete longitudinal vein II and IV. This mutant strain was crossed with wild-type strain and marker strains to study the genetic characteristics of these 3 mutant genes. The results showed that dark body color is an autosomal recessive mutation (db) located on chromosome ...
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Autosomal Recessive F 1
1,030 wordsMutant Trait of Drosophila melanogaster The mode of inheritance for the mutant trait giving a dark dark body phenotype was determined using Drosophila melanogaster. This phenotype was determined to be result of the ebony mutant trait. An initial mating was set up between homozygous mutant males, and homozygous normal virgin females. The F 1 generation was examined and then allowed to self cross. Then the resulting F 2 generation was examined and the frequency of the mutant phenotype was noted. T...
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Tay Sachs Disease Autosomal Recessive
812 wordsThis condition, Tay-sachs TAY-SACHS DISEASE This condition, Tay-Sachs Disease, is due to the reduction of a key enzyme. This missing enzyme is hexosominidase and is commonly referred to as Hex A. When this enzyme is missing in lipids (fats), GMZ ganglioside accumulates in inert cells. Hex A is key and is needed to break up and regulate lipids. When GMZ builds up in the neurons, the functions of the nervous system are affected. This leads to mental retardation, damages in the nervous system, and ...
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