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evolutionista t1_ja9x81w wrote

Reply to comment by Vonspacker in Is there a genetic disease where the heterozygote has more severe disease symptoms than the homozygote? by Altranite-

In vivo I think this will require consanguinity to produce someone who has homozygous ras mutations as these are fairly rare disorders with severe effects in heterozygotes. Also, they aren't concentrated in particular endogamous populations as far as I know.

In vivo we have to additionally ask if a fetus would be viable with homozygous ras pathogenic variants. Heterozygosity may reduce viability of fetuses with related genetic diseases.

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Vonspacker t1_jaa1jy6 wrote

You might be interested in this paper: https://www.frontiersin.org/articles/10.3389/fgene.2011.00100/full

Outlines in vivo studies in mice showing how Ras zygosity effects tumour identity differently based on the type of mutation they've got. While Ras knockouts seem to make fetuses unviable, Ras Gain-of-function seems to still permit viability, but also confers shorter lifespans because of tumours.

A lot of Ras mutations are acquired from what i know, with different mutations being linked more to certain organs because of the nature of carcinogens that organ is exposed to. So I don't know if it's super worth looking deeper into heredity of this sort of thing, even if its very cool.

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