Circular definitions are a trap. It’s good to avoid traps.
Hence, in simple terms, here are some useful explanations.
Genes are the computer coding for people, because we all know people are actually robots. (Click. Whirr. This is a joke.)
A genotype is the total computer code print-out for a person. It’s relevant to inheritable diseases. A disease is a state of poor health, by the way. It has to be significantly abnormal enough for it to be classed as diagnosable, given these things are based on artificial cut-offs. They can be somewhat arbitrary, but generally there’s a reasonable basis underneath them.
A phenotype is the outside casing of the computer product, which is distinct from its wiring inside. It represents how matters surface in the material world.
A phenocopy is a materialised appearance of things that doesn’t actually have the relevant genotype. That is, it looks like that computer coding output, but the computer coding is different from what it’s expected to be. It resembles a syndrome but without the genetic basis for it.
The phenocopy situation can occur in Huntington’s disease, where the autosomal dominant CAG-repeater mutation isn’t apparent but similar clinical manifestations arise.
References
- Moore RC, Xiang F, Monaghan J, Han D, Zhang Z, Edström L, Anvret M, Prusiner SB. Huntington disease phenocopy is a familial prion disease. Am J Hum Genet. 2001 Dec;69(6):1385-8. doi: 10.1086/324414. Epub 2001 Oct 9. PMID: 11593450; PMCID: PMC1235549.
