Mutations and genetic disorders

Question 1

What is a mutation

Answer 1

changes in the DNA that can result in no protein or an altered protein being synthesised

Question 2

What do single gene mutations alter

Answer 2

The DNA nucleotide sequence

Question 3

What is a substitutation mutation

Answer 3

one or more nucleotides are replaced

Question 4

What is an insertion mutation

Answer 4

one or more nucleotides are added

Question 5

What is a deletion mutation

Answer 5

one or more nucleotides

Question 6

How is the mRNA code affected by a single nucleotide insertion

Answer 6

All codons after the mutation point are changed

Question 7

How is the protein affected by a single nucleotide insertion

Answer 7

All amino acids after the mutation point are changed

Question 8

How is the mRNA code affected by a single nucleotide deletion

Answer 8

All codons after the utation point are changed

Question 9

How is the protein affected by a single nucleotide deletion

Answer 9

All amino acids after the mutation point are changed

Question 10

What si the effect of a frame shift mutation

Answer 10

All the codons and all the amino acids after the mutation are changed this has a major affect on the structure of the protein produced

Question 11

How is the mRNA code affected by a single nucleotide substitution

Answer 11

One codon

Question 12

How is the protein affected by a ingle nucleotide substitution

Answer 12

One amino acids

Question 13

What is the cause of a substitution missense mutation

Answer 13

Single nucleotide replaced

Question 14

What is the chnage in the mRNA code due to a substitution missense mutation

Answer 14

one codon is changed

Question 15

What si the chnage to polypeptide chain due to a substitution missense mutation

Answer 15

one amino acid is replaced with another

Question 16

What is the change in the mRNA due to substitution nonsense mutation

Answer 16

one codon is replaced with a premature stop codon

Question 17

What si the chnage to polypeptide chain due to substittution nonsense mutation

Answer 17

Shorter protein is produced because translation ends prematurely

Question 18

What does splice site mutations result in

Answer 18

Some introns being retained and or some exons not being included in the mature transcript

Question 19

What do nucleotide insertions or deletions result in

Answer 19

Frame shift mutation

Question 20

What do frame shift mutations cause

Answer 20

All of the codons and all of the amino acids after the mutations to be changed

Question 21

What is translocation

Answer 21

a section of a chromosome breaks off and becomes attached to a chromosome not its homologous partner

Question 22

What is inversion

Answer 22

A section of chromosomes is reversed

Question 23

What is deletion

Answer 23

A section of chromosome is removed

Question 24

What is duplication

Answer 24

a section of a chromosome is repeated or part of a chromosome breaks off and reattached to its homologous partner

Question 25

what are the consequenced of when chromosome structures are altered

Answer 25

The substantial changes in chromosome mutations often make them lethal

Question 26

Waht si the cause of a substitution splice site mutation

Answer 26

single nucleotide replaced

Question 27

What dies nonsense mutations result in

Answer 27

premature stop codon being produced which results in a shorter protein

Question 28

What dies missense mutations result in

Answer 28

one amino acid being changed for another which may result in a non functional protein or have little effect on the protein

Question 29

How can you know if a fragment is not from either end of a gene

Answer 29

there is no start or stop codon

Question 30

What word is used to describe a mutation which results in the addition of an incorrect amino acid into a protein

Answer 30

missense

Question 31

What are the nucleotide substitution mutations

Answer 31

missense nonsense splice site