mutations Flashcards

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1
Q

define mutation

A

a change in DNA structure, amount or arrangement

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2
Q

where do mutations usually occur

A

in somatic cells- cells undergoing meiosis

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3
Q

define muatgen

A

chemicals or radiation which increase the rate of mutation

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4
Q

give some examples of mutagens

A

1) ionising radiation

2) chemicals such as polycyclic hydrocarbons

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5
Q

what is a carcinogen

A

a mutation which causes caner

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6
Q

list the two different types of mutation and give an example of what it may cause

A

1) chromosome mutation- down syndrome

2) gene mutation- sickle cell anemia

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7
Q

define a chromosome mutation

A

a mutation causing large changes in chromosome structure and number affecting many genes and visible under a light microscope

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8
Q

define a gene mutation

A

small changes in the base sequence, only affecting a single gene, and is a result of a fault in DNA replication

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9
Q

what are the different types of mutation

A

1) deletion- a base is lost or deleted
2) insertion- an extra-base is added or inserted
3) substitution- one base is substituted for another

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10
Q

what affects can a substitution mutation have

A

1) changes in the amino acid produced= missense mutation
2) no change in aminoacid produced= scilent mutation
3) changes the amino acid to a STOP= nonsense mutation

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11
Q

outline sickle cell anaemia

A

1) a substitution mutation in beta hemoglobin resulting in the 6th amino acid (glutamic acid) being replaced by valine
2) changes the primary structure which in turn alters secondary, tertiary, and quaternary structure
3) causes haemoglobin to stick together forming long fibres making the sickle shaped
4) change in shape of red blood cells decreases ability to bind to oxygen

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12
Q

If a homozygous individual who has sickle cell anaemia (HBs HBs) what will happen to their cells

A

are their cells will be effected and poteinally fateal

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13
Q

fif an individual is heterozygous for sickle cell anemia ( HBa HBs) what will happen

A

an example of codominance- half their cells will be affected and oxygen carriage dorps 20%

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14
Q

define cancer

A

uncontrolled cell division resulting in the production of a tumour made p of undifferentiated cells

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15
Q

what is meant by a malignant tumor

A

when cells of te tumour break off and are carried in the blood stream forming a secondary tumour

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16
Q

How can mutations increase cancer

A

1) changes to tumor suppressant gene- lack of proteins which halt cell division
2) proto-oncogenes- changes in the production of oncogenes which releases an excess of proteins stimulating cell division
3) mutations leading to lack of proteins involved in normal mechanisms of cell death (apoptosis)

16
Q

How can mutations increase cancer

A

1) changes to tumor suppressant gene- lack of proteins which halt cell division
2) proto-oncogenes- changes in the production of oncogenes which releases an excess of proteins stimulating cell division
3) mutations leading to lack of proteins involved in normal mechanisms of cell death (apoptosis)

16
Q

How can mutations increase cancer

A

1) changes to tumor suppressant gene- lack of proteins which halt cell division
2) proto-oncogenes- changes in the production of oncogenes which releases an excess of proteins stimulating cell division
3) mutations leading to lack of proteins involved in normal mechanisms of cell death (apoptosis)