VIII.2 Almost all genes are present in many variants in the population, yet most differences between the variants are caused by neutral mutations
While molecular biology has made it possible to also study monomorphic genes, it has simultaneously demonstrated that, strictly speaking, monomorphic genes do not exist.Almost all genes studied in detail occur in populations in a great many variants that differ, at the very least, in the presence of individual point mutations.Most of these mutations are apparently neutral in relation to the phenotype and selection, and occur, e.g., on the third positions of the nucleotide triplets, where their occurrence does not lead to substitution of an aminoacid in the protein chain.Some mutations lead to these substitutions; however, only some substitutions simultaneously lead to changes in the biological functioning of the relevant proteins.A large part of the polymorphism at the DNA level is thus not polymorphism in the true sense of the word and is not manifested externally in any way.This type of “pseudopolymorphism” is important for study of evolutionary and population phenomena, but is of relatively little importance from the viewpoint of biological evolution.It arises from mutation processes and, on the other hand, is being continuously removed by genetic drift, genetic draft andmolecular drive.