"Mutation" Essays and Research Papers

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    Chromatography Experiment of the Drosophila Eye Pigmentation Pathway Introduction: How can the use of chromatography help explain single gene mutations of the drosophila melanogaster bio-synthetic pigment pathway? This experiment was meant to help connect the mode of inheritance with different eye color mutations and pinpoint where they occur in the pigment pathway. The drosophila eye color is a result of two bio-synthetic eye color pathways‚ this is expressed as a trait or phenotype‚ a multigene

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    The first gene suspected in a familial form of ALS was SOD1‚ though it only accounts for a small percentage of familial forms of the disease. The following discoveries were the mutations in the genes for FUS ans TARDBP (encoding for TDP-43 protein). Neuropathological analysis led to the identification of insoluble cytoplasmic phosphorylated protein deposits in brain and spinal cord. TDP-43 is a broadly expressed and highly conserved protein with different functions in RNA metabolism‚ including RNA

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    Dmk Synthesis

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    The nonmutated form of DMPK functions in the production of protein kinase serine; this enzyme plays a role in intracellular communication and in the regulation of myosin phosphate. When DMPK is mutated‚ the proteins CUG-BP1‚ MBNL1 and INSR are displaced causing the splicing of troponin pre-mRNA which causes malfunctions in the cardiac conduction system‚ dominance of a chloride channel that causes myotonia‚ dominance of an insulin receptor that affects the sufficiency of insulin‚ and dominance of

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    oral squamous cell carcinoma

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    deletions (for example‚ DDX3X) in OSCC-GB. We find a high proportion of C4G transversions among tobacco users with high numbers of mutations. Many pathways that are enriched for genomic alterations are specific to OSCC-GB. Our work reveals molecular subtypes with distinctive mutational profiles such as patients predominantly harbouring mutations in CASP8 with or without mutations in FAT1. Mean duration of disease-free survival is significantly elevated in some molecular subgroups. These findings open new

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    Evolutionary Medicine

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    resistance and susceptibility‚ the E. Coli bacteria become resistant or susceptible due to the evolutionary principles of genetic drift‚ mutation‚ and natural selection. The spread of Tuberculosis involved a great deal of genetic drift because of all the different populations that had spread the infection around the world. Lastly‚ the development of cancer involves mutations‚ which is one of the most important things to understand about how cancer develops. It is so important to understand that evolutionary

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    Lorenzo's Oil

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    1. What is the movie all about? Lorenzo’s Oil Lorenzo is the son of Michaela and Augusto Odone. He begins to have strange memory problems and blackouts. At age 6‚ he is diagnosed with the childhood cerebral form of ALD‚ a progressive degenerative nervous system disorder. There is no cure for this disease and his parents are told he will become totally disabled and die in a few years. Michaela and Augusto‚ devastated by Lorenzo’s diagnosis‚ decide to research ALD even though neither has a

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    caused by a mutation in the protein called hemoglobin which helps carry oxygen in red blood cells. Because of the mutation‚ the hemoglobin is shaped oddly which results in pain because it is hard for the blood to travel throughout the body and anemia because of the lack of oxygen in the blood. A person can only have this disease if both parents are carriers and they receive two recessive alleles. There are five effects of the disease at different levels. At the DNA level the mutation causes the sequence

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    Cystic Fibrosis Case Study

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    allele. Sarah’s Family Michael’s Family Part II Questions: Punnett Squares 3. Construct a Punnett square to demonstrate why Sarah concluded that she and Michael could not have an affected child (assuming that she does not carry a CF mutation). Since Sarah jumped to the conclusion that she did not carry any recessive alleles for CF she thought that her and Michael’s baby wouldn’t have CF. So when you cross what she thought she had CC with Michael’s carrier genotype Cc you will have a

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    Pex7p Transport Role

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    Pex7p Transport Role As previously stated‚ the location of the mutation causing the lethal RCDP1 phenotype has been narrowed down to the 10-exon PEX7 gene. wt PEX7 is translated as a cytosolic import receptor Pex7p‚ responsible for binding enzymes destined for the peroxisomal matrix marked by the N-terminal peroxisome-targeting signal 2 (PTS2). In a normal cell‚ the Pex7p receptor has a PTS2 receptor region that recognizes and binds the PTS2 of the localized protein in the cytosol‚ necessary for

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    “Yes‚ we are all individuals!” Can evolutionary psychology explain individual differences in personality? It is now a “rule” that “all human behavioural traits are heritable” (Turkeimer‚ 2000. cited in Pinker 2002). Pinker says that when psychologist Eric Turkheimer made this bold claim in 2000‚ he was encapsulating over 40 years of studies that overwhelmingly and robustly support this view‚ and only slightly exaggerating (Pinker 2002). Estimates of the mean heritability for the fundamental

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