Section 4:Genetic diversity Flashcards

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1
Q

What are the two types of mutation?

A

Gene mutation:A change in the sequence in bases in DNA
Chromosome mutation:A change in the number or sturcture of chromosomes

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2
Q

What are mutagenic agents and give four examples

A

Mutagenic agent is something which can increase the rate of mutation, this can be chemical or physical
Example:UV light, nitrous acid, gamma rays and viruses

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3
Q

What are the different types of gene mutation?

A
  • Substitution of base
  • Deletion of base
  • Addition of a base
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4
Q

Why might the amino acid produced not change

What happens when a substitution mutation occurs?

A

Substitution mutations result in a change of one base, this could change the result of the amino acid
The amino acid may not change as the genetic code is degenerate

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5
Q

What disease is a result of a base substitution mutation?

A

Sickle cell disease (anaemia)
The substitution of one base causes an amino acid change =resulting in a slightly different version of the protein chain in haemoglobin being produced~leads to a sickle shaped haemoglobin produced

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6
Q

Is the amino acid produced always changed

What happens when a deletion mutation occurs?

A

A deletion of a base results in a frameshift which changes a series of amino acids
Deleting a base can lead to codons no longer being read properly as bases are read as triplets ,therefore the subsiquent bases will be shifted foward by one base

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7
Q

What disease is a result of a base deletion mutation?

A

Cystic Fibrosis
Deletion of one triplet coding for the the 508th amino acid in the gene causes a faulty protein to be produced
This leads to thick mucus that clogs around the lungs

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8
Q

Three points

Describe how a base deletion affects the amino acid sequence

A
  • Frameshift mutation~due to the non-overlapping nature of the genetic code
  • Nucleotide base is removed every reading frame from the point of the mutation is shifted
  • This means that every amino acid downstream will be shifted
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9
Q

Give an example

What is meant by non-disjunction?

A

Homolgous pairs don’t seperate during meiosis
An example of this is downs syndrome~an extra chromosome 21

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10
Q

What is caused by a base insertion?

A

The reading frame is shifted which changes the sequnce of amino acids produced

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11
Q

What are gametes?

A

Reproductive sex cells that fuses with another gamete during fertilisation

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12
Q

What is an allele?

A

One number of alternative forms of a gene

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13
Q

What are homologous chromosomes?

A

One maternal chromosome and one paternal chromosome

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14
Q

Why is meiosis needed?

A

It is necessary to halve the number of chromosomes going into the cell

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