Good, you've got a grasp on mutations to somatic cells - the ones that make up our bodies. Nearly all of them, like the ones your son has and my HLA-B27 cause diseases or conditions. They do not get passed down to offspring however. The mutations that are important unknowingly both my husband and I are
olution happen in gametes - reproductive cells.
Great. Here's a few examples mutations that have fixed in the human population of groups of human populations.
- MCM6 is mutation in a regulatory gene that controls lactase production. For people that have the mutation they produce lactase and can consume milk and milk products into adulthood.
- CCR5delta32 is a mutation that confers resistance to HIV.
- ARHGAP11B is a duplicate gene that has mutated in humans causing our neocortex to be larger and denser.
Every child is born with at least 60 mutations that neither parent had. The vast majority of them will have zero effect on the child. Some will cause diseases and a few will confer some sort of change beneficial to survival or reproduction.