The function of individual genes Flashcards

(30 cards)

1
Q

how do we get information about the function of a gene from its phenotype

A

by studying organisms that are naturally variant for a particular gene - we can study what that gene might do

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2
Q

how do we get information about the function of a gene from its phenotype if there are no natural variations that exist

A

we make our own variations and by studying both these types of variants we can learn how particular variations lead to phenotypic change

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3
Q

what is natural variation

A

naturally occurring differences in genetic sequences within a species, arising from mutations that have been maintained through natural selection

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4
Q

what are the 2 types of genetic techniques that can be used to find the out the function of a gene

A
  1. functional molecular genetics
  2. model organisms can be used to make mutants
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5
Q

what are 3 types of approaches regarding functional molecular genetics

A
  1. genetic screen
  2. transgenesis/genetic engineering
  3. targeted mutation/ gene knockout/ reverse genetics
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6
Q

how does the approach of a genetic screen work in identifying the function of a gene

A

increase the rate of random mutation - select for a phenotype of interest and sequence the genome to identify the mutation

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7
Q

how does the approach of a transgenesis/genetic engineering work in identifying the function of a gene

A

taking a gene you are interested in, copy it and insert it into another organism

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8
Q

how does the approach of targeted mutation/ gene knockout/ reverse genetics work in identifying the function of a gene

A

by deliberately breaking a gene to see what happens

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9
Q

what are model organisms

A

organisms that can be easily raised in a controlled environment and are easily to manipulate genetically

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10
Q

what is transgenesis

A

engineering a multicellular organism by adding in foreign DNA

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11
Q

what can we use transgenic DNA for

A
  1. understand how gene work
  2. engineer recombinant proteins (synthetic biology)
  3. gene therapy approaches
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12
Q

what is a transgene

A

a gene that has been transferred from one organism to another

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13
Q

how can we damage/modify the genes we are interested in

A

by genetically modifying an organism or cell line

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14
Q

how are we able to work out what a gene normally does through ‘breaking a gene’

A

by examining the organism or its offspring after breaking the specific gene

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15
Q

what is CRISPR - Cas9

A

a type of target mutation where a clustered regularly interspaced short palindromic repeats is used in association with CRISPR associated protein 9

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16
Q

where did CRISPR evolve from

A

in bacteria as an antiviral defense

17
Q

what do you have to mix together in order to start your CRISPR targeted mutation

A
  • Decide which gene you wish to mutate.
  • Design a short “guide” RNA that only binds to your gene of interest.
18
Q

how does CRISPR work
Cas9 enters the _______ and finds the _________ in
the genome that matches guide RNA

A

nucleus
target sequence

19
Q

how does CRISPR work
Cas9 makes _________ in DNA at target site

A

a double stranded break

20
Q

how does CRISPR work
In the absence of a template,_________ try to patch up the cut. This often results in errors as there is no template to read from.

A

DNA repair enzymes

21
Q

how does CRISPR work
Small _____are created at the target site, the gene is potentially, ______or ______

A

InDels
disrupted
mutated

22
Q

how does CRISPR work
If ___________is provided, it is possible to use this to “edit” the DNA sequence at the cut site - “gene editing”

A

repair template

23
Q

what is gene editing

A

alteration of the genetic material of a living organism by inserting, replacing, or deleting a DNA sequence

24
Q

what do we need to know in order to fix genetic diseases

A
  • we know what causes it
  • have a way to correct the defect
  • have considered the ethics
25
what is cystic fibrosis
defect in CFTR gene which codes for a chlorine ion transporter
26
what is sickle cell disease
mutation in hemoglobulin - the oxygen carrying protein in red blood cells
27
what does somatic cell gene editing target
it only targets the cell or organs affected and does not effect the next generation
28
what are 3 ways gene editing can be done in a germline
1. pre-implantation genetic diagnosis 2. three parent babies 3. CRISPR gene edited babies
29
what is the process of pre-implantation genetic diagnosis
in families with an identified risk, IVF can be used to make embryos from the parents’ eggs and sperm. These embryos can be tested before implantation, and only healthy embryos implanted.
30
what is the process of three parent babies
where the faulty gene is on the mitochondrial DNA, nuclear transfer to a donor egg can be used.