Allelic vs Locus Heterogeneity

A discussion about the presentation of the same diseases with different genetic profiles, either due to different types of mutations or due to different genes being mutated.

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#alleles #locus #heterogeneity #genetics #medicalschool #step1 #usmle

[MedicalMinutesChannel]

Hey guys, I’ve noticed there’s something I said in regards to the “same mutation” in locus heterogeneity that perhaps wasn’t clear. When I refer to them being the “same mutation”, I obviously don’t mean they are the exact same mutation since they are ultimately 2 separate mutations in 2 different locations.

What I mean by the “same mutation” is that it’s the same TYPE of mutation. So in locus heterogeneity, when I refer to it being the same mutation I mean it’s the SAME TYPE of mutation, whether that’s missense, frameshift, etc. (and more importantly it is FUNCTIONALLY the same as a result, they both are). For example, if there’s a frameshift mutation on a gene in chromosome 11 and also a frameshift mutation on another gene in chromosome 17, and they both end up phenotypically presenting as the same disease. That’s what I mean when I say same mutation, same TYPE of DNA mutation. Sorry if I wasn’t clear enough on that and there was any confusion for anyone!

[devinyoung]

I wouldn't say that the mutation is the same if it is in a different gene.