Lecture 4

Question 1

What is the human body comprised of? What are the different layers?

Answer 1

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Question 2

What are the larger units of the cell? What are the building blocks of the cell? How are they interlinked?

Answer 2

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Question 3

What is the interaction between the building blocks?

Answer 3

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Question 4

What is chromosomal DNA? What are the components of the genes in the chromosome? What are their properties?

Answer 4

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Question 5

How many nucleotides to each AA?

Answer 5

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Question 6

What is the human genome project? When?

Answer 6

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Question 7

What is the average no of exons per gene? How much of the gene is in exon?

Answer 7

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Question 8

Where are the majority of mutations that results in effects?

Answer 8

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Question 9

What is a codon?

Answer 9

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Question 10

What are the stop and start codons? What AA do they correspond to?

Answer 10

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Question 11

What is a SNP?

Answer 11

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Question 12

What are the types of SNPs?

Answer 12

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Question 13

What is the nomenclature for explaining where the mutation is? What are the different ways of writing this?

Answer 13

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Question 14

How to write out a missense SNP? How to write out a nonsense SNP?

Answer 14

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Question 15

What is a INDEL? What is a potential consequence of this?

Answer 15

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Question 16

What is the nomenclature of a INDEL mutation? I.e. a Frame shift?

Answer 16

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Question 17

What is Collagen 7? What are the properties? Where is it found?

Answer 17

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Question 18

What is in the basement membrane? How is collagen 7 structured? What is it’s role?

Answer 18

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Question 19

What happens when there is a mutation in collagen 7? What are examples of mutations in collagen 7?

Answer 19

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Question 20

What is Epidermolysis Bullosa? What happens at the molecular level? What are the features macroscopically?

Answer 20

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Question 21

What are the strategies for Epidermolysis Bullosa? What are the advantages and disadvantages of each one?

Answer 21

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Question 22

How does bone marrow transplant help with Epidermolysis Bullosa?

Answer 22

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Question 23

How do gene therapy help treat Epidermolysis Bullosa? What are the types?

Answer 23

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Question 24

What are the types of Bone marrow? What are the properties of each?

Answer 24

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Question 25

How to use allogenic fibroblasts to help with this potentially?

Answer 25

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Question 26

What are the types of gene therapy? What are the properties?

Answer 26

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Question 27

What is the whole process of gene therapy?

Answer 27

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Question 28

What is Beta- Globin? What are the no. Of exons, mRNA, genes, proteins?

Answer 28

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Question 29

How are RBCs made? What is the process? Where do they come from?

Answer 29

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Question 30

What is Sickle Cell anaemia?

Answer 30

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Question 31

What is the mutation of sickle cell anaemia? What type?

Answer 31

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Question 32

What is the results of the mutation? What happens to the structure of haemoglobin and therefore the RBC?

Answer 32

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Question 33

What are the treatment options? What are the temporary solutions? What are the permanent solutions?

Answer 33

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Question 34

What are the cell therapy options for sickle cell anaemia?

Answer 34

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Question 35

What are the gene therapy options?

Answer 35

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Question 36

What is Beta-thalassemia? What is the mutation? What is a results of this?

Answer 36

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Question 37

What is different in the erythropoiesis process in beta thalassemia? What is the problem?

Answer 37

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Question 38

What are the symptoms of Beta- thalassemia? Why?

Answer 38

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Question 39

What are the treatment options for Beta-thalassemia?

Answer 39

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Question 40

What are the cell therapies? What are the gene therapies?

Answer 40

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