lituranga
lituranga t1_ja9kmon wrote
Reply to comment by jubears09 in Is there a genetic disease where the heterozygote has more severe disease symptoms than the homozygote? by Altranite-
That’s not true, there are many AR conditions with common pathogenic carrier mutations which mean that many affected individuals are absolutely homozygous without any consanguinity.
It’s not exceedingly improbable at all. Examples off top of my head are delta f 508 for Cystic fibrosis, all the ashkenazi Jewish common AR conditions, SMA, sickle cell disease, alpha thal, beta thal, and I’ve personally seen many patients with other disorders who are affected and homozygous for same pathogenic variant.
lituranga t1_j23gb5l wrote
Reply to Alice in Borderland by EkaterinaGagutlova
Is there a concerted effort right now by Netflix or bots to post multiple threads a day about how much better this show is than squid game?
lituranga t1_ja9pb51 wrote
Reply to comment by jubears09 in Is there a genetic disease where the heterozygote has more severe disease symptoms than the homozygote? by Altranite-
Yes fair, just meaning to clarify that the phrase exceedingly improbable is a bit inaccurate since there are a huge amount of examples of disorders that work this way in reality.