Essays about: "LHON"
Found 3 essays containing the word LHON.
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1. Optimization of a multiplex ARMS-PCR for detection of the primary mutations causing Leber’s hereditary optic neuropath
University essay from Uppsala universitet/Institutionen för kvinnors och barns hälsaAbstract : Leber’s hereditary optic neuropathy (LHON) is a genetic disease that causes the patients to become blind, first in one eye and then the other, around the ages of 10-75 years. The disease is caused by mutations in the mitochondrial DNA, which disturbs the respiratory chain leading to the deterioration of the retinal ganglion cells. READ MORE
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2. Optimization of a Multiplex PCR-RFLP Method Used for Detection of Three Primary Mutations in Leber’s Hereditary Optic Neuropathy Patients
University essay from Uppsala universitet/Institutionen för kvinnors och barns hälsaAbstract : Leber’s hereditary optic neuropathy (LHON) is the most commonly inherited disease that causes blindness in one or both eyes, with a minimum prevalence of 1 in 31 000 in the northeast of England. What causes LHON is not fully known but three mitochondrial mutations, G3460A, G11778A, and T14484C, have been identified in over 95 % of all LHON patients. READ MORE
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3. DEVELOPING A MOLECULAR TOOL KIT FOR DIAGNOSTIC PCR
University essay from Uppsala universitet/Institutionen för kvinnors och barns hälsaAbstract : ABSTRACT The aim of this study is develop and test an inexpensive molecular tool kit to be used for diagnostic PCR for diseases such as Leber hereditary optic neuropathy (LHON) and Cystic fibrosis(CF). By developing and optimizing recombinant Taq polymerase and making a DNA size ladder from plasmids pPSU1 and pPSU2 the financial cost for the tool kit would be reduced significantly compared to the commercial components. READ MORE
