mutation

Question 1

what is a mutagen

Answer 1

something that causes a permanent change to DNA

Question 2

three types of mutations

Answer 2

• electromagnetic radiation
• chemicals
• naturally occuring

Question 3

what is ectromagnetic radiation

Answer 3

electromagnetic radiation involves 3 dangerous ionising radiation that can produce free radicals ehich cause breakage in DNA.

Question 4

what are the 3 top dangerous ionising radiation?

Answer 4

1. UV, gamma
2. x-rays
3. gamma rays

Question 5

how does elctromagnetic radiation caus mutations

Answer 5

direct:
ionising radiation frees electrons from DNA molecules. The High energy electrons can damage DNA.

indirect:
When electrons pass through cells, they interact with water and release free radicals. Radicals are highly reactive and will break strands of DNA leading to deletions, partial chromosome loss, cross-linking of DNA with itself etc. This interferes with protein synthesis.

Question 6

example of mutation caused my electromagnetic radiation

Answer 6

skin cancer

Question 7

chemicals

Answer 7

chemicals that will cause mutations if there is a high frequency or exposure over long periods of time

Question 8

naturally occuring

Answer 8

exposure to microbes, plnat and animlas that can cause mutations

Question 9

types of mutations

Answer 9

• point mutations
• chromosomal mutations

Question 10

what is point mutation?

Answer 10

chnage in only 1 nucleotides

Question 11

two types of point mutations

Answer 11

1. substitution
2. frameshift

Question 12

what is substitution point mutation?

Answer 12

1 nucleotide is swapped out for another

Question 13

what is frame shift point mutation?

Answer 13

mutation causing a dowmstream shift in codon reading sequence
- insertion
- deletion

Question 14

what are the effects from point mutations

Answer 14

1. silent:
   no chnage to amino acid
2. missense:
   change in amino acid creates non-functional protein
3. nonsense:
   change in nuceotife codes for stop codon causing non-functional protein

Question 15

chromosomal mutation

Answer 15

A mutation that affects the structure or number of chromosomes in a cell which causes genetic disorders

Question 16

what are the four tpes of chromosomal mutation?

Answer 16

1. deletion
2. inversion
3. translocation
4. duplication

Question 17

deletion

Answer 17

section of chromosome is removed

Question 18

inversion

Answer 18

section of chromosome is removed, rotated 180 and reunserted

Question 19

translocation

Answer 19

section of 1 chromosome is moved to a non-homologous chromosome (pair of chromosomes that are structues the same and carries the same gene

Question 20

duplication

Answer 20

sectio of chromosome is doubles an dinserted increasing the number of genes

Question 21

what are the two effects of chomosomal mutations

Answer 21

1. aneuploidy
2. polyploidy

Question 22

what is aneuplody?

Answer 22

having a full extra chromosomes or missing a full chromosomes

Question 23

what is polyploidy?

Answer 23

• more than normal set of chromosomes

Question 24

what is somatic mutations?

Answer 24

mutations that occur in the body cells rather than in reproductive cells.

Question 25

what is the location of somatic mutations?

Answer 25

somatic cells which are body cells - lungs, skin, liver

Question 26

what is the cause of somatic mutations?

Answer 26

mutation occurs during interphase before mitosis

Question 27

is somatic mutations heredity?

Answer 27

no

Question 28

what are the effects of somatic mutations?

Answer 28

individual = development of a tumour over time

Question 29

Examples of somatic mutations

Answer 29

Skin cancer Brain tumour Liver cancer

Question 30

What is germ line mutations

Answer 30

Mutation that occur in the reproductive cells

Question 31

Is germ line mutations heritary?

Answer 31

Yes, it is passed on to offspring, affecting every cell in the offsprings body

Question 32

Example of germline mutations

Answer 32

Cystic fibrosis Down syndrome Breast cancer

Question 33

what is the impact of germ line mutations?

Answer 33

it can lead to inherited genetic consitions and may affect future generations

Question 34

coding mutations

Answer 34

mutations which occur in the coding dna which usually affect the type of amino acids in the polypeptide chain, resulting in an abnormal protein end-product

Question 35

what does mutations in a coding dna cause?

Answer 35

abnormal protein end product

Question 36

example of a disease caused by the mutation in coding dna

Answer 36

sickle cell anaemia

Question 37

example of a disease caused by the mutation in coding dna

Answer 37

sickle cell anaemia

Question 38

what is non-coding DNA?

Answer 38

non-coding mutations are dna’s that do not code for proteins

Question 39

what are the three types of non-coding DNA?

Answer 39

1. dna used for replicating e.g tRNA 2. regulatory sequence 3. repetitive dna

Question 40

what is regulatory sequence DNA?

Answer 40

dna that controles the amount of protein produces

Question 41

example of a disease that is caused from a mutation in a non-coding DNA?

Answer 41

Lung cancer - mutations is caused in Regulatory sequence dna causing the exessive protein produce resulting in tumours

Question 42

what is a gene pool?

Answer 42

Gene pool is the total collection of alleles for all genes in a population

Question 43

Do gene pools chnage overtime?

Answer 43

yes

Question 44

What are the reasoning of why gene pools change?

Answer 44

1. gene flow 2. gene drift 3. mutations 4. selection pressures

Question 45

what is gene flow?

Answer 45

movement of allele population

Question 46

what is gene drift?

Answer 46

Radom events occurring within the population E.g deaths and births

Question 47

What is selection pressures?

Answer 47

Any external factors which effects an organisms ability to survive E.g temperature and food

Question 48

What are the causes of genetic variation?

Answer 48

1. Crossing over 2. Independent assortment 3. Random segregation

Question 49

What are the three types of effect of mutations?

Answer 49

1. Neutral effect 2. Harmful effect 3. Beneficial effect