Uni of Notts, Genes, Molecules, and Cells, first year
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| Pleiotropy | Genes producing protein that each cause multiple phenotypic effects. This is due to proteins being involved in many bodily systems & affecting each differently
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| Cases where Mendelian genetics don’t determine frequency of a characteristic | They can predict frequency of a gene but not a phenotype which is determined by the environment
Only applies to regular (autosomal) inheritance & not other kinds (I.e., Co-dominance, sex linked, autosomal linked, epistasis, pleiotropy etc.)
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| Alleles | Subtle mutations of the same gene with slightly different base sequences, there can be many alleles of the same gene
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| Haplosufficiency | When a single functional (wild-type) allele of a heterozygous gene in a diploid organism provides enough protein to fulfil its purpose in the body
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| Haploinsufficiency | When a single functional (wild-type) allele of a heterozygous gene in a diploid organism doesn’t provide enough of its protein compared to the mutated allele, stopping the reaction from going ahead
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| ‘Wild type’ | Specific alleles carried by individuals in a population which, when expressed, provides their phenotypic traits
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| How dominance works | Wild type allele is usually dominant to non-functional allele since in many cases reactions can still take place with reduced concentration of proteins, usually enzymes since they're catalysts - haplosufficiency
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| How non-functional alleles can become dominant: Haploinsufficiency | Some processes require exact levels of protein & one functioning allele may not be enough, this can lead to haploinsufficiency syndromes like William's syndrome & breast cancer
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| How non-functional alleles can become dominant: Quaternary structure | If non-functional proteins are incorporated into a quaternary structure then it makes the whole multimer non-functional which means that other proteins & pathways are affected
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| Polygenic | Opposite of Pleiotropic, many different genes contribute to the same characteristic. Example of genetic interaction
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| Genetic interaction example - Why the expression of 2 genes can lead to so many skin colours of peppers | One gene codes for the expression of a pigment in the skin colour & the other codes for the expression of chlorophyll in the skin, depending on the combination of expression, this will lead to different phenotypes
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| Epistasis | When the expression of one gene affects (masks or enhances) the expression of a gene on a different locus
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| Hypostatic relationship | When the expression of a gene is controlled by the expression of another gene, opposite of an epistatic relationship
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| How a biochemical pathway can be affected by epistasis | They're determined by enzymes catalysing intermediates, each enzyme depends on previous enzymes in the pathway to create an appropriate substrate meaning their genes are hypostatic to the previous enzyme's genes
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| Penetrance | Probability an individual with a certain genotype will display it in their phenotype (this varies as a percentage of a population)
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| Expressivity | Degree of phenotypic change change caused by a genotype, this varies between characteristics (particularly polygenic ones)
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| A cause behind variable penetrance & expressivity | Many modifier genes involved in epistasis cause a large variance in expression (expressivity & probability of being expressed (penetrance)
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| Genetic maps | Diagrams showing simplified relative distance between genes or markers on a chromosome as well as the type of inheritance & linkage
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| How genetic maps are designed | The distance between genes is based on the frequency of recombination during inheritance which increases the further genes are from one another, measured in centimorgans (1cM = 1% probability)
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| Physical genome map | Diagram showing the exact distance between each gene, measured in base-pairs from a sequenced genome
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