4.3 genetic diversity can arise as a result of mutation or during meiosis

Question 1

What is a gene mutation?

Answer 1

● A change in the base sequence of DNA (on chromosomes)
● Can arise spontaneously during DNA replication (interphase)
e.g base deletion or substitution

Question 2

What is a mutagenic agent?

Answer 2

A factor that increases rate of gene mutation, eg. ultraviolet (UV) light or alpha particles

Question 3

Explain how a mutation can lead to the production of
a non-functional protein or enzyme

Answer 3

1. Changes sequence of base triplets in DNA (in a gene) so changes sequence of codons on mRNA
2. So changes sequence of amino acids in the polypeptide
3. So changes position of hydrogen / ionic / disulphide bonds (between amino acids)
4. So changes protein tertiary structure (shape) of protein
5. Enzymes - active site changes shape so substrate can’t bind, enzyme-substrate complex can’t form

Question 4

Explain the possible effects of a substitution mutation

Answer 4

1. DNA base / nucleotide (pair) replaced by a different base / nucleotide (pair)
2. This changes one triplet so changes one mRNA codon
3. So one amino acid in polypeptide changes
   ○ Tertiary structure may change if position of hydrogen / ionic /
   disulphide bonds change
   OR amino acid doesn’t change
   ○ Due to degenerate nature of genetic code (triplet could code for same
   amino acid) OR if mutation is in an intron so removed during splicing

Question 5

Explain the possible effects of a deletion mutation

Answer 5

1. One nucleotide / base (pair) removed from DNA sequence
2. Changes sequence of DNA triplets from point of mutation (frameshift)
3. Changes sequence of mRNA codons after point of mutation
4. Changes sequence of amino acids in primary structure of polypeptide
5. Changes position of hydrogen / ionic / disulphide bonds in tertiary
   structure of protein
6. Changes tertiary structure / shape of protein

Question 6

Describe features of homologous chromosomes

Answer 6

Same length, same genes at same loci, but may have different alleles

Question 7

Describe the difference between diploid and haploid cells

Answer 7

● Diploid - has 2 complete sets of chromosomes, represented as 2n
● Haploid - has a single set of unpaired chromosomes, represented as n

Question 8

Describe how a cell divides by meiosis

Answer 8

In interphase, DNA replicates → 2 copies of each chromosome (sister chromatids), joined by a centromere

1. Meiosis I (first nuclear division) separates homologous chromosomes
   ○ Chromosomes arrange into homologous pairs
   ○ Crossing over between homologous chromosomes
   ○ Independent segregation of homologous chromosomes
2. Meiosis II (second nuclear division) separates chromatids

● Outcome = 4 genetically
varied daughter cells
● Daughter cells are
normally haploid (if
diploid parent cell)

Question 9

Draw a diagram to show the chromosome content of cells during meiosis

Answer 9

look at email

Question 10

Explain why the number of chromosomes is halved during meiosis

Answer 10

Homologous chromosomes are separated during meiosis I (first division)

Question 11

Explain how crossing over creates genetic variation

Answer 11

● Homologous pairs of chromosomes associate / form a bivalent
● Chiasmata form (point of contact between (non-sister) chromatids)
● Alleles / (equal) lengths of (non-sister) chromatids exchanged between chromosomes
● Creating new combinations of (maternal & paternal) alleles on chromosomes

Question 12

Explain how independent segregation creates genetic variation

Answer 12

● Homologous pairs randomly align at equator → so random which chromosome from each pair
goes into each daughter cell
● Creating different combinations of maternal & paternal chromosomes / alleles in daughter cells

Question 13

Other than mutation and meiosis, explain how genetic variation within a
species is increased

Answer 13

● Random fertilisation / fusion of gametes
● Creating new allele combinations / new maternal and paternal chromosome combinations

Question 14

Explain the different outcomes of mitosis and meiosis

Answer 14

1. Mitosis produces 2 daughter cells, whereas meiosis produces 4 daughter cells
   ○ As 1 division in mitosis, whereas 2 divisions in meiosis
2. Mitosis maintains the chromosome number (eg. diploid → diploid or haploid → haploid)
   whereas meiosis halves the chromosome number (eg. diploid → haploid)
   ○ As homologous chromosomes separate in meiosis but not mitosis
3. Mitosis produces genetically identical daughter cells, whereas meiosis produces
   genetically varied daughter cells
   ○ As crossing over and independent segregation happen in meiosis but not mitosis

Question 15

Explain the importance of meiosis

Answer 15

● Two divisions creates haploid gametes (halves number of chromosomes)
● So diploid number is restored at fertilisation → chromosome number maintained between generations
● Independent segregation and crossing over creates genetic variation

Question 16

How can you recognise where meiosis and mitosis occur in a life cycle?

Answer 16

● Mitosis occurs between stages where chromosome number is maintained
○ Eg. diploid (2n) → diploid (2n) OR haploid (n) → haploid (n)
● Meiosis occurs between stages where chromosome number halves
○ Eg. diploid (2n) → haploid (n)

Question 17

Describe how mutations in the number of chromosomes arise

Answer 17

• Nondisjunction occurs spontaneously during meiosis.
• Homologous chromosomes (Meiosis I) or sister chromatids (Meiosis II) fail to separate.
• Some gametes have one extra chromosome (n+1), others have one less (n-1).

Question 18

Suggest how the number of possible combinations of chromosomes in
daughter cells following meiosis can be calculated

Answer 18

2n where n = number of pairs of homologous chromosomes (half the diploid number)

Question 19

Suggest how the number of possible combinations of chromosomes
following random fertilisation of two gametes can be calculated

Answer 19

(2n)
2 where n = number of pairs of homologous chromosomes (half the diploid number)