1.5 and 1.6 structure of the genome and mutation

Question 1

Genome definition

Answer 1

The entire genetic hereditary information of DNA (both coding and non coding regions of DNA.)

Question 2

What do non coding regions of DNA do

Answer 2

Regulate transcription

Question 3

Percentage of DNA in humans that don’t code for proteins

Answer 3

98%

Question 4

Percentage which code for proteins in Humans

Answer 4

2%

Question 5

Gene definition

Answer 5

A section of DNA that codes for a protein

Question 6

Hereditary

Answer 6

Passed from parent to child

Question 7

Single gene mutations def

Answer 7

Where one gene of DNA is altered, by the alteration of nucleotide order, resulting in one type of protein being altered.

Question 8

Mutation definition

Answer 8

A random and spontaneous change to an organisms genetic information

Question 9

Mutation effect on proteins

Answer 9

Different proteins are produced or proteins aren’t synthesised

Question 10

Types of single gene mutations

Answer 10

DIS
Deletion
Insertion
Substitution

Question 11

(Single Gene) Deletion definition

Answer 11

Where a nucleotide or nucleotides are removed from a gene of DNA making the DNA strand and gene shorter.

Question 12

(Gene) deletion result

Answer 12

All codons and amino acids are altered after the mutation.

Question 13

(Gene) insertion definition

Answer 13

Where a nucleotide or nucleotides are added to a gene of DNA , increasing the length of the strand and the gene.

Question 14

(Gene) insertion result

Answer 14

All amino acids and the codons after the mutation are all altered.

Question 15

Frameshift mutations definition

Answer 15

Single gene mutations where there is an addition of a nucleotide or a removal of a nucleotide, resulting in all codons and amino acids being altered after the mutation.

Question 16

Frameshift gene mutations examples

Answer 16

Insertion and deletion

Question 17

Substitution gene mutation

Answer 17

Where nucleotides are replaced by different nucleotides, on a gene of DNA

Question 18

Types of substitution

Answer 18

Nonsense
Missense
Splice site

Question 19

Nonsense substitution definition

Answer 19

Where a stop codon is prematurely produced, resulting in a smaller protein being produced than expected.

Question 20

Misense definition

Answer 20

Where one amino acid is replaced by another amino acid in translation, resulting an a considerable change to the protein or very little change in a protein.

Question 21

Splice site definition

Answer 21

Where introns are spliced into a mature transcript of mRNA in RNA splicing, resulting in dis functional proteins.

Question 22

Types of chromosome mutations

Answer 22

Deletion
Inversion
Translocation
Duplication

Question 23

(Chromosomes) Deletion definition

Answer 23

Where a section of a chromosome is removed, resulting in less genes.

Question 24

Inversion definition

Answer 24

Where a section of a chromosome is reversed, resulting in no viable gametes.

Question 25

Translocation definition

Answer 25

Where a section of one chromosome is swapped with another chromosome which is not its homologous partner.

Question 26

Duplication definition

Answer 26

Where one section of a chromosome is added from its homologous partner, resulting in a set of genes being repeated,

Question 27

Special features of chromosomes duplication

Answer 27

Only one which can be beneficial

Question 28

Chromosome mutation definition

Answer 28

A change in the structure of a chromosome. Meaning many genes are altered.