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Flashcards in CK L3 Consequences of Mutations Deck (16)
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1

what does SNP stand for...? *in the context of mutations*

Single nucleotide polymorphisms

2

where is SNP located?

the 4th position of a building block or the 4th base

3

consequences of single nucleotide changes...?

> change gene product
> change amount of the gene product
> change the polypeptide length
> does not have an effect

4

two types of single nucleotide changes...? as in categories

> Transition

> Transversion

5

what single nucleotide changes come under the catagory Transition....?

> change to same type of base
> purine to purine (A G)
> pyrimidine to pyrimidine (T C)

6

what single nucleotide changes come under the catagory Transversion....?

> change to different type of base
> purine to pyrimidine or vice versa

7

what disease is caused by one letter change in the haemoglobin

sickle cell anaemia

8

where is the mutation that causes sickle cell

codon 7 in HBB and the 6th amino acid

9

what do these mutations do?
> silent or neutral mutation
> synonymous mutation

do not have an effect

10

what do a missense mutation?

change in the amino acid

11

what does a non-synonymous mutation do...?

change in the amino acid

12

what does a frame shift mutation do...?

change in the polypeptide length

13

what does the mutations that are affecting the regulatory sequences do...?

changes in the amount of gene product

14

mutation and cancer- more mutation = ....?

more cell stress = more cancer cells

15

what is a biopsy...?

a sample of tissue taken from the body in order to examine more closely

16

important points need to know for exam...?

spontaneous or exo/endogenous sources
most DNA damage is repaired
many different repair mechanisms
are results of defects in repair mechanisms
may be ‘good’ or ‘bad’ (or neutral!)
a source of genome variation
a driving force of evolution
but may cause disease