3.8 Mutations and stem cells Flashcards

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1
Q

What is a mutation ?

A

A change in the DNA base sequence of a gene

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2
Q

What can a gene mutation result in ?

A

A different amino acid sequence in the primary structure that causes hydrogen and ionic bonds to form in different locations, which results in a different 3D shape

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3
Q

What is an addition mutation ?

A

One extra base is added to the sequence

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4
Q

What is the result of an addition mutation ?

A

Frameshift- alters the codons which can code for different amino acids

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5
Q

What is a deletion mutation ?

A

One base is deleted from the sequence

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6
Q

What is the result of a deletion mutation ?

A

Causes frameshift to the left

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7
Q

What is a substitution mutation ?

A

One of the bases is changed for a different base

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8
Q

What is an inversion mutation ?

A

When a section of bases detach from the DNA sequence, but when they rejoin they are inverted so this section of code is back to front

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9
Q

What is duplication ?

A

One particular base is duplicated at least once in the sequence

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10
Q

What effect does a duplication mutation have ?

A

Cases frameshift to the right and a different sequence of amino acids are coded for

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11
Q

What is translocation ?

A

A section of bases on one chromosome detaches and attaches onto a different chromosome

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12
Q

What are the impacts of translocation ?

A

Can cause significant impact to gene expression and therefore the resulting phenotype

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13
Q

What are stem cells ?

A

They are undifferentiated cells that can continually divide and become specialised

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14
Q

What is the name of the process by which stem cells become specialised ?

A

Differentiation

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15
Q

What is a totipotent stem cell ?

A

Can differentiate into any type of body cell

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16
Q

Where are totipotent cells found ?

A

In early mammalian embryos

17
Q

What are pluripotent stem cells ?

A

Can differentiate into almost any cell

18
Q

Where are pluripotent stem cells found ?

A

Found in embryos

19
Q

What are pluripotent stem cells used for ?

A

Treating human disorders

20
Q

What is a multipoint cell ?

A

Can develop into most cell types

21
Q

What is a unipotent cell ?

A

Can only differentiate into one type of cell

22
Q

Where are multipoint and unipotent cells found ?

A

Found in mature mammals

23
Q

How are induced pluripotent stem cells produced ?

A

From adult somatic cells using protein transciption factors

24
Q

Why are IPS used ?

A

To overcome some of the ethical issues associated with using embryonic stem cells