Genetics Terms
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- เผยแพร่เมื่อ 5 มิ.ย. 2024
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variable expressivity = 1 gene, different phenotype in 2 or more people
pleiotropy = 1 gene, different phenotype in one person
mnemonic: pleiotropy has 1 word, variable expressivity has 2 words
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Another term that tripped me up (even though it seems obvious) was "Dominant Negative" mutation... It's synonymous with an autosomal dominant disease, but worded super weird (i.e. the dominant mutation leading to a negative, which is the disorder). Maybe this is just a COMLEX thing, but I'm pretty sure I saw it on NBMEs.
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Thanks for the video. Could you please explain 'Loss of heterozygosity' and 'Dominant negative mutation'?
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Can you contrast locus heterogeneity with allelic heterogeneity? For some reason I always confuse these
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Can you make more genetics videos please
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I like these terms they are very very easy points like so easy
can anyone please help me how to differentiate Pleiotropy vs Variable expressivity...since both start out with the same 1 gene issue---> multiple expressity.....
Pleiotropy is the mere presence of greater than 1 symptom
Variable Expressivity is more about the spectrum of SEVERITY
Think of Pleiotropy as number of symptoms, whereas Expressivity is the severity of symptoms
Pleiotropy is same person and variable expressively is in different persons
My understanding is that in Pleiotropy one gene can have completely different phenotypes, but in Variable expressivity same gene can have varying severity. Both terms are not mutually exclusive. Gene A can have phenotype X and phenotype Y (Pleiotropy), and phenotype X can be really severe in one person and very mild in another (variable expressivity).
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Increased severity OR decreased age onset. Minor correction. They dont have to both together. Thanks for the awesome videosss :DDDDD Greatly appreciate ur work.
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