Proteins, Disorders and Genetic Mutations

Question 1

Mutations

Answer 1

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

Question 2

Insertion mutation

Answer 2

-an extra nucleotide is added into the nucleotide sequence
-changes the sequence of triplet code along the lenght of DNA which will change every amino acid added to the protein from the point of mutation

Question 3

Deletion mutation

Answer 3

-a nucleotide is removed from the nucleotide sequence
-changes the sequence of triplet code along the lenght of DNA which will change every amino acid added to the protein from the point of mutation

Question 4

Substitution

Answer 4

one nucleotide is exchanged with another nucleotide with a different base

Question 5

Missense substitution

Answer 5

one nucleotide is exchanged with another nucleotide with a different base. Only one amino acid can change.

Question 6

Nonsense substitution

Answer 6

exchanging one nucleotide with another with a different base which cause an amino acid codon to be replaced with a premature stop codon, results in a shorter protein being produced

Question 7

Splice-site Substitution

Answer 7

A nucleotide is substituted at a site where introns are normally removed, results in introns being retained and some exons being included in the mature transcript.

Question 8

Effect of mutation to the protein being produced

Answer 8

Will affect the structure and function of protein being synthesised
-They can result to have a detrimental effect on the health of the individual affected

Question 9

Deletion

Answer 9

A section of chromosomes are removed, can be lethal

Question 10

Inversion

Answer 10

A section of chromosomes is reversed, doesn’t affect too much

Question 11

Duplication

Answer 11

A section of a chromosome is added from its homologous partner(leads to repeated genes)

Question 12

Translocation

Answer 12

A section of one chromosome breaks off and become attached to a different chromosome which is not is homologous partner

Question 13

Effects of Deletion, Duplication and Translocation mutations

Answer 13

The substantial changed in chromosome mutation may make them lethal, since since genes may be lost/repeated

Question 14

Effects of invertion mutations

Answer 14

may not cause changes since all genes are present in cell, so not lethal

Question 15

karyotype

Answer 15

diagram showing chromosome lined up in their homologous pairs.