Lecture 4 Flashcards
What is the human body comprised of? What are the different layers?
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What are the larger units of the cell? What are the building blocks of the cell? How are they interlinked?
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What is the interaction between the building blocks?
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What is chromosomal DNA? What are the components of the genes in the chromosome? What are their properties?
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How many nucleotides to each AA?
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What is the human genome project? When?
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What is the average no of exons per gene? How much of the gene is in exon?
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Where are the majority of mutations that results in effects?
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What is a codon?
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What are the stop and start codons? What AA do they correspond to?
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What is a SNP?
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What are the types of SNPs?
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What is the nomenclature for explaining where the mutation is? What are the different ways of writing this?
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How to write out a missense SNP? How to write out a nonsense SNP?
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What is a INDEL? What is a potential consequence of this?
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What is the nomenclature of a INDEL mutation? I.e. a Frame shift?
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What is Collagen 7? What are the properties? Where is it found?
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What is in the basement membrane? How is collagen 7 structured? What is it’s role?
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What happens when there is a mutation in collagen 7? What are examples of mutations in collagen 7?
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What is Epidermolysis Bullosa? What happens at the molecular level? What are the features macroscopically?
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What are the strategies for Epidermolysis Bullosa? What are the advantages and disadvantages of each one?
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How does bone marrow transplant help with Epidermolysis Bullosa?
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How do gene therapy help treat Epidermolysis Bullosa? What are the types?
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What are the types of Bone marrow? What are the properties of each?
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How to use allogenic fibroblasts to help with this potentially?
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What are the types of gene therapy? What are the properties?
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What is the whole process of gene therapy?
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What is Beta- Globin? What are the no. Of exons, mRNA, genes, proteins?
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How are RBCs made? What is the process? Where do they come from?
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What is Sickle Cell anaemia?
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What is the mutation of sickle cell anaemia? What type?
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What is the results of the mutation? What happens to the structure of haemoglobin and therefore the RBC?
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What are the treatment options? What are the temporary solutions? What are the permanent solutions?
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What are the cell therapy options for sickle cell anaemia?
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What are the gene therapy options?
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What is Beta-thalassemia? What is the mutation? What is a results of this?
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What is different in the erythropoiesis process in beta thalassemia? What is the problem?
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What are the symptoms of Beta- thalassemia? Why?
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What are the treatment options for Beta-thalassemia?
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What are the cell therapies? What are the gene therapies?
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