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Biochem and medical genetics

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Question
Answer
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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