mutations
DESCRIPTION
Mutations. Any change in DNA sequence which is not immediately and properly repaired. If they occur in somatic cells then they are non-inheritable, if in gametes then can be passed on to offspring. - PowerPoint PPT PresentationTRANSCRIPT
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Mutations
• Any change in DNA sequence which is not immediately and properly repaired.
• If they occur in somatic cells then they are non-inheritable, if in gametes then can be passed on to offspring.
• Can be due to mistakes in DNA replication (spontaneous) or caused by mutagenic agents e.g. UV light, ionising radiation, Xrays, chemicals, viruses
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• May be harmful, beneficial or neutral.
• Usually recessive in diploids, can pass through many generations with no further change.
• Two main types: gene mutations (point) and chromosome mutations (block, number of chromosomes or sets of chromosomes)
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Point Mutations
• These are single gene mutations. There is a change in the DNA sequence of one base. This affects the amino acid coded for and therefore the protein. There are 3 types of point mutation.
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• Substitution: a base is swapped for another base, the code for the amino acid may be changed resulting in a non-functioning protein. E.g. sickle cell anaemia.
• Insertion: an extra base is added resulting in a frame shift in the reading of the code making a new sequence of amino acids.
• Deletion: a base is removed resulting in a frame shift in the reading of the code making a new sequence of amino acids. E.g. cystic fibrosis.
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• Tautomerism is where the wrong base pairing occurs which results in the amino acid sequence being misread.
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Block mutations
• A change in structure of the chromosome. Groups of genes are affected and often occurs during crossing over or due to mutagens. Four types:
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• Deletion: loss of a section of chromosome
• Inversion: part of a chromosome turned around.
• Translocation: part of one chromosome breaks off and is joined to another chromosome.
• Duplication: part of a chromosome is copied and added to the chromosome.
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• A bird flys thru the trees
• A flys thru the trees
• A drib flys through the trees
• A flys thru bird the trees
• A bird bird flys thru the trees
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Chromosome numbers
• Aneuploidy: loss or gain of whole chromosomes
• Polyploidy: loss or gain of sets of chromosomes.
• All cause diseases with multiple effects which are called syndromes.
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Aneuploidy
• Normally a human has pairs of homologous chromosomes (disomy).
• Aneuploidy is where one pair of chromosomes either has monosomy (only 1 chromosome) or trisomy (three chromosomes).
• Can occur in autosomes (nonsex chromosomes) e.g. downs, patau, edward syndrome
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• Can occur in sex chromosomes e.g. Klinefelter (XXY) or Turner (XO) syndrome.
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Polyploidy
• 3+ complete sets of chromosomes, common in plants and rare in humans (spontaneously aborts).
• Autopolyploidy – within a single species
• Allopolyploidy – within hybrid
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