We have “Patient Zero” for diseases but what is the term for someone who has a new genetic mutation?

  • Tollana1234567@lemmy.today
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    2 months ago

    they usually name the mutation/disease after the person, or the scientist/MD who discover it first and publishes it in a science journal,.

  • TXL@sopuli.xyz
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    2 months ago

    Dead (usually before birth), if it’s a fatal factor. Nothing, if it’s not, because in practically all non lethal cases there’s no visible effect.

  • geekwithsoul@piefed.social
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    2 months ago

    Such changes are called germ-line mutations because they occur in a cell used in reproduction (germ cell), giving the change a chance to become more numerous over time. If the mutation has a deleterious affect on the phenotype of the offspring, the mutation is referred to as a genetic disorder. Alternately, if the mutation has a positive affect on the fitness of the offspring, it is called an adaptation. [Nature]

    I’m assuming you mean “mutation that gets passed down”. Whether a mutation is a disorder or an adaptation takes generations to determine, so we may not know the identity of the individual. Furthermore, what was once a disorder may become adaptive in a different environment and vice versa. In general, I suppose if it was adaptive, they might be called “ancestor” :)

    More broadly, and outside of germ-line mutations (meaning it’s not passed down to offspring), everyone has cells with mutations. The person doesn’t have the mutation per se, but a cell or cluster of cells do, so identifying them by that mutation doesn’t make a lot of sense. If it’s bad, your body either kills it or it kills you (e.g. cancer). If it’s good, it likely doesn’t change anything significantly.

  • brendansimms@lemmy.world
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    2 months ago

    “A person”. Every single person has genetic mutations that differentiate them from every other person. Now if their mutation happens to be wings or something, then I don’t know, ‘Bird-Person’ probably.