I'm the process of paper drafting and stumbled upon the question, what's the appropriate name for individuals, who are affected by a disease, which is likely due to a mutation.

I was using the term "carriers" until now (like in: group one constists out of mutational carriers, group two is a control group).

Now I've read that the word "carrier" is just short for hereditary carrier (Wikipedia: has inherited a recessive allele for a genetic trait or mutation but does not display that trait)

So how do I refer to patients that are affected by the mutation. I've thought about "patients", but the control group consists out of patients, too.

Is there a correct word for this?

  • 1
    Perhaps on the English stack? What is the dictionary definition of carrier? – Solar Mike Feb 27 '18 at 9:47
  • I'm sorry, the question isn't correct here! – Eric G Feb 28 '18 at 7:53

Look at the previous research on this disease, and check what those papers are using to designate these people. If there's a conventional way to refer to them, you'll want to conform to that; if they use different words you'll have some options to choose one you like from.

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I have heard of the opposite (genetically inherited the mutation with no sign of disease) as an asymptomatic carrier, so I checked if symptomatic carrier exists. It does not seem to be very common, but it has been used in medical publications.

This does imply a genetic cause though. Which means if you are not yet sure there is a mutation behind it, I would not use the word (genetic) carrier in any case. (Unless you know it is either that or a pathogen, as a patient can also be a symptomatic or asymptomatic carrier of a pathogen.)

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