Biochem and medical genetics
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Types of mutation | show 🗑
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show | In the presence of water cytosine will lose an amine group to form uracil. 5-methyl cytosine will form thymine
This leads to a substitution, which is not repaired leads to the wrong base pairing on replication, so will be propagated
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De-purination | show 🗑
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show | Replication errors can occur where the wrong base is added, changing the base paring on one of the grand-daughter strands
This can be recognised by repair machinery and fixed, but this is difficult in repeat regions
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Extension of repeat regions | show 🗑
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Thymine Dimers | show 🗑
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show | Nucleotide damage - nucleotide excision by XP proteins
Single strand breaks - PARP, XRCC1
Recombination repair of double strand breaks - BRCA1/2 (homologous), DNAPKcs, XRCC$ (non-homologous)
Mismatch repair - MSH2, MLH1
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show | If repair is compromised by mutations in genes encoding repair complexes this can elevate susceptibility to cancer
Nucleotide exision repair - XP genes leads to Xeroderma Pigmentosa and Cockayne Syndrome
Double strand breaks - breast cancer
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Mis-sense mutation | show 🗑
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Non-sense mutation | show 🗑
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Classes of mutation | show 🗑
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show | Gain of function - novel or excess protein
Loss of function - reduces or eliminates protein
Dominant negative mutation - produces abnormal protein that interferes with normal protein
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show | One in 300 nucleotides in the human genome is polymorphic. Usually no significant phenotype so not selected for or against
Needs to be present in >1% of the population
Tend to be associated with disease as they are inherited with other mutations
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show | Observable characteristics
Due to genotype and environment
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show | Description of the genetic composition
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Chromosomal abnormalities - Aneuploidy | show 🗑
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Chromosome abnormalities - Breakage | show 🗑
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show | Homologous chromosomes line up in pairs in meiosis
Reciprocal exchanges between chromatids - frequency depends on distance between loci
A normal pathway in meiosis and not a cause of disease
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Two genomes in eukaryotes | show 🗑
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show | Nuclear genome has a very small proportion of coding genes
Mitochondrial genome had mostly coding genes and is much smaller
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The mitochondrial genome | show 🗑
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Different forms of satellite DNA | show 🗑
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show | Hyper-expansion of repeats in genes can lead to disease
Microsatellite expansions play a role in neurological diseases including Huntington's and Friedrich Ataxia
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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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show | Parts of chromosomes are exchanged with non-homologous chromosomes
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