Mutations Flashcards

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1
Q

Population

A

a group of organisms of the same species living together in a particular place at a particular time

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2
Q

Gene pool

A

The sum of all the alleles in a given population

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3
Q

Allele frequencies

A

how often each allele of a gene occurs in the gene pool for that population

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4
Q

Mutation

A

A change in a gene or a chromosome leading to a new characteristic in an organism - a permanent change in the DNA.

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5
Q

Mutant

A

A characteristics resulting from a mutation

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6
Q

Two types of Mutations

A

Chromosome; when all or part of a chromosome is affected.

Gene mutation; Changes in a single gene so that traits normally produced by that genes are changed or destroyed.

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7
Q

Mutagenic agents

A

Known to increase the rate of which mutations occur. E.g. X-rays, mustard gas etc.

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8
Q

Gene mutations

A

A change in the bases of the DNA could change the amino acid and could alter the protein. Could have no affect or prevent the protein from being produced.

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9
Q

Types of mutation

A

Induced; a mutation caused by a mutagenic agent

Spontaneous; A mutation that occurs due to an error in the natural biological process

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10
Q

Heritability of the mutation

A

Somatic; A change occurring in the gene in the body cell.

Germline; a change in the heredity material in the egg or sperm that becomes incorporated into the DNA of every cell in the body

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11
Q

Effects of Mutation

A

Missense Mutation; A change in the amino acid and therefore the protein that is produced

Non-sense Mutation; A change in the base sequence that results in a STOP of the code. Therefore synthesis will stop and shorter proteins are produced.

Neural Mutation; A mutation that causes a change in the amino acid, however does not cause a change in the overall protein produced

Silent Mutation; A mutation that does not change the sequence of the amino acid

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12
Q

Extent of mutations

A

Chromosomes mutations affect a whole number of genes whereas Gene mutations only affect a singular gene.

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13
Q

Change in DNA (Nucleotide)

A
  1. insertion - A new nucleotide is added to the DNA strand
  2. Substitution - An existing nucleotide is replaced with another
  3. Deletion - A nucleotide is removed from the DNA strand
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14
Q

Point mutations

A

A change in just one of the bases in a DNA molecule

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15
Q

Frame shift mutation

A

Occurs when bases have been added or removed. This results in a series of bases that codes for an amino acid starting at a different base. They affect the outcome for all the DNA from that point on.

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16
Q

Change in DNA (DNA strands)

A
  1. Duplication - a section of chromosome occurs twice
  2. Deletion - A piece of DNA is removed
  3. Inversion - Breaks occur in the Chromosome and is rejoined the wrong way around
  4. Translocation - part of the chromosome breaks off and is rejoined to the wrong chromosome
  5. Non-disjunction - During meiosis, a chromosome part does not separate and so one daughter has an extra chromosome and one daughter has one less chromosome
17
Q

Conditions due to mutations (Gene)

A

Gene mutations;

  1. Duchenne Muscular dystrophy
  2. Cystic fibrosis
18
Q

Conditions due to mutations (Chromosomal)

A

Chromosol mutations;

  1. Down syndrome or trisomy 21.
  2. Partial trisomy
  3. Patau syndrome