4B: Diversity, Classification & Variation Flashcards
What are gametes?
Sex cells:
Sperm cells in males and egg cells in females
What do gametes join together to make?
A zygote
What is the human haploid number?
23
What is the human diploid number?
46
Describe homologous chromosomes
- One maternal + one paternal
- Called homologous pairs
- Two chromosomes that carry the same genes but not necessarily the same alleles of the genes
- Have the same gene loci
What does the haploid number refer to?
HALF the number of homologous pairs
Define nondisjunction
The failed separation of chromosomes during meiosis I or chromatids in meiosis II
What happens if a gamete with an error is fertilised (nondisjunction)?
If the gamete with an error is the fertilised, the resulting embryo may not be viable and might die or else an individual may be born with a genetic disorder
In what 2 ways is meiosis a major source of variation?
- Independent assortment
2. Crossing over
What is a gene locus?
A fixed position on a chromosome that is occupied by the gene
When does crossing over occur?
In Meiosis I
What are the (3) stages of crossing over?
- A piece of chromatid from one chromosome touches a piece of chromatid from the homologous partner
- The chromatids of each pair become twisted around each other (crossing over). This creates tensions and causes portions of the chromatids to break off
- The broken portions might then rejon with the chromatids of its homologous partner (recombination)
Explain why no genetic material is lost in the crossing over of chromosomes
No genetic material is lost because the genetic material is exchanged between homologous chromosomes and at the same gene loci
- Meaning that the chromosomes will stay the same length
How does crossing over result in genetic variation in daughter cells?
- Crossing over allows the exchange of genetic material between homologous chromosomes
- This increases variation as it results in new allelic combinations that were not present in either parent chromosome
What is independent assortment?
In metaphase 1 homologous chromosomes randomly align along the equator of the cell
What is independent segregation?
Since the chromosomes align randomly, the combination of maternal/ paternal chromosomes that enter the daughter cells is also random
What does meiosis produce?
4 daughter cells that are genetically different from
each other
Describe the structure of a chromosome
Two sister chromatids joined together by a centromere
If you know the haploid number of an organism, what is the formula to work out the no. of possible combinations in the gametes?
Combinations = 2n (squared)
n= haploid number
Describe cross fertilisation
- The process of cross fertilisation provides further opportunity for variation
- The fusion of male + female gametes is an entirely random process
Where does meiosis take place?
Reproductive organs
Describe the 6 stages of meiosis
- Before meiosis starts DNA unravels and replicates (2 copies in each chromosome)
- The DNA condenses to form double-armed chromosomes (made from 2 sister chromatids)
- Meiosis I (1st division) the chromosomes arrange into homologous pairs
- The pairs are then separated, halving the chromosomes number
- Meiosis II (2nd division) - the centromere is divided producing separated sister chromatids
- 4 haploid, genetically different daughter cells (gametes) are produced
Are the cells that divide by meiosis diploid or haploid? What do they produce?
The cells that divide are diploid, but they produce haploid cells (with half the no. of chromosomes)
What are sister chromatids joined by?
The centromere
Describe independent segregation (4 points)
- Each homologous pair of chromosomes is made up of 1 maternal and 1 paternal chromosome
- When homologous pairs are separated (meiosis I) its random which chromosome from each pair ends up in which daughter cell
- So the 4 daughter cells produces have a random combination of maternal + paternal chromosomes
- Leads to genetic variation in offspring
When are homologous pairs separated?
Meiosis I
How many divisions occur in meiosis compared to mitosis?
2 divisions in meiosis but only 1 in mitosis
What happens during the 2 divisions of meiosis?
Separates homologous pairs and then the sister chromatids
In meiosis, how many chromosomes will each daughter cell have?
23 whole chromosomes (1 from each homologous pair)
What do genetic mutations involve?
Gene mutations involve a change in the base sequence of chromosomes
Describe substitution mutations
When a nucleotide is replaced by another nucleotide (with a different base)
Give an example of a substitution mutation.
What effect could this have on the protein?
E.g:
G T C –> codes for the amino acid Glutamine
Then if the base C is replaced by G:
G T G –> codes for histidine
Therefore the polypeptide produced will change. The significance of this depends on the role of the original amino acid.
In substitution mutations, what happens if the amino acid coded for is important in forming bonds that determine the tertiary struc of the protein?
- If the amino acid is important in forming bonds that determine the tertiary structure of the final protein
- then the replacement amino acid may not form the same bonds
- The protein may be a different shape
- Which means that it may not function properly
E.g enzymes
What will happen if the base is substituted by another base that codes for the same amino acid?
No change
E.g:
GTC becomes GTT –> but both triplets code for glutamine
How, and when, do chromosome mutations occur?
Mutations in the number of chromosomes can arise spontaneously by chromosome non-disjunction during meiosis.
Describe deletion mutations
- When a nucleotide is lost from the normal DNA sequence
- Has drastic results:
A deletion of just 1 nucleotide base causes the entire sequence to be read differently because each base has been shifted to the left by one base (frame shift)
What can increase the rate of gene mutation?
Mutagenic agents
Give 3 example of mutagenic agents
X-rays, UV radiation and radioactive substances
What are chromosome mutations?
Changes in the structure or number of whole chromosomes
What are the 2 types of chromosome mutation?
- Changes in whole sets
- Changes in no. of individual chromosomes