Biochem and medical genetics
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| Types of mutation | show 🗑
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| Deamination | show 🗑
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| show | In the presence of water purine bases can be lost to leave a sugar phosphate with no base
The base pair is lost in replication as there is nothing to base pair a new strand with
Leads to a deletion of that base pair
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| Mistakes during replication | show 🗑
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| Extension of repeat regions | show 🗑
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| show | Exposure to UV can cause dimerization of thymine.
two thymine are covalently linked, affecting structure of the DNA, such as introducing kinks, which affects replication
E.g. Melanoma. Mutation is repair enzymes affect susceptibility to melanoma
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| Repair mechanisms | show 🗑
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| If mutations affect repair genes | show 🗑
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| show | A mutation that alters a codon so that it is recognised by a different t-RNA and consequently a different amino-acid is introduced into the polypeptide chain
This changes the protein properties, function and interactions
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| Non-sense mutation | show 🗑
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| Classes of mutation | show 🗑
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| Consequences of mutation on protein production | show 🗑
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| Single nucleotide polymorphisms | show 🗑
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| Phenotype | show 🗑
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| show | Description of the genetic composition
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| show | Changes in the number of chromosomes
Due to non-disjunction
Monosomy - loss of a chromosome
Trisomy - gain of a chromosome
Most common is chromosome 21 - Down syndrome
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| show | Double strand break - can be fused incorrectly
Parts of chromosomes can be exchanged
e.g. change in regulation of genes by moving them on the chromosome (Philadelphia myeloid leukaemia) or loss of sections of chromosome if exchanged areas are different
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| Recombination | show 🗑
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| show | Nuclear genome - linear chromosomes inherited from both maternal and paternal side
Mitochondrial genome - circular chromosomes inherited from only the maternal side
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| Different sequence classed in nuclear and mitochondrial genome | show 🗑
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| The mitochondrial genome | show 🗑
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| Different forms of satellite DNA | show 🗑
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| Microsatellites and disease | show 🗑
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| DNA transposons | show 🗑
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| show | RNA intermediates reverse transcribed into DNA
Lines - Long interspersed elements encoding exo-nuclease and reverse transcriptase
Sines - short nuclear elements made of Alu repeats. Depend on line gene product to move
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| Alu elements | show 🗑
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| Protein encoding genes | show 🗑
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| Robertsonian Mutations | show 🗑
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