4 ms·
Possible, but unlikely. Single nucleotide changes to DNA are very common. Every single person born has multiple altered base pairs ("SNPs") and acquires more th
by jadedhacker 8y ago
Possible, but unlikely. Single nucleotide changes to DNA are very common. Every single person born has multiple altered base pairs ("SNPs") and acquires more throughout their life (this is in part how cancer develops).
DNA is pretty interesting. It's kind of like reading a binary file in that every three base pairs constitutes a "codon" or the code for an amino acid, a building block of a protein. In this case, a base pair was knocked out via one of many unfortunate methods, and this causes a "frameshift error".
This is kind of like if you have an array of xyz vertices (common in 3d graphics) xyzxyzxyz and then you suddenly delete one: xzxyzxyz. If you try to read that file, you'll get unintelligible artifacts. Unfortunately, that's what happened to the little girl's gene. Depending on where the error occurs, more or less of the gene is read incorrectly. Sometimes if you're lucky, it occurs near the end and it might not be a big deal, but if it happens at the beginning or middle, the entire protein is messed up.
Anyways, I hope that helps illuminate what's happening here if you weren't already aware.
I'm not a professional biologist, but I sometimes act like one. Please correct me if I got a detail wrong. :)
EDIT: I should mention the reason why those changes don't hurt most people is that there's a lot of non-coding DNA that serves various functions such as structural, can promote the activation of other genes, could be part of disabled viral genomes, and then there's the fact that DNA is a degenerate code (some codons code for the same amino acid). There are probably many other categories that I didn't mention too.
- mirimir 8y agoSure, spontaneous point mutations are very common. They account for many spontaneous abortions. But spontaneous point mutations in the Forkhead box G1 (FOXG1) gene are not very common. And scientists researching FOXG1 are also not very common. But then, correlation is not causation. And this could well reflect selection bias. And unless she was working with some vector carrying defective mouse FOXG1 genes, the probability that this particular defect would get transmitted is small.
- SiempreViernes 8y agoI take the title as telling me there are a lot of lab biology going on in the world (and that many of them are women).
- Retric 8y agoI think your correct. 3 billion base pairs so with ~3 mutations per person it's 1/billion per child per location. But, lots of children (~2 per researcher and many researchers), lots of valid locations as researchers study many specific locations etc. IMO, odds of something like this happening is fairly high. PS: I don't think gender means anything here as the same story would get out if it was a male researcher.
- arkades 8y agoIt’s also not a random draw. Genes that have a significant impact on human development are the ones that cause disease - and by extension, draw the attention of researchers.
- darkerside 8y agoShouldn't most corrupted files simply not get processed by the file system (and likely cleaned up by the immune system), especially if the error were at the beginning? It seems the mutation would need to be "close but wrong" to have the most truly devastating effects.
- whatshisface 8y agoOne example of "close but wrong" that is still very wrong would be a protein that isn't necessary for survival until you exit the womb. CF is like this, you don't breathe until you're born.