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In fact, we expect that across all humans, there are over 100 mutations at every single position in the human genome. And, here is the math to prove it: The average mutation rate in the human genome is 1.2 x10^-8 mutations per site per generation.This is pretty small, so in each person, we only expect to observe a handful of new mutations relative to their parents.But, that handful of mutations adds up when you think of how many people are on the earth.n fact, we expect that across all humans, there are over 100 mutations at every single position in the human genome. And, here is the math to prove it: The average mutation rate in the human genome is 1.2 x10^-8 mutations per site per generation.
However, these mistakes are rare, and the cell has repair mechanisms that can repair some damage. - Sometimes a permanent change occurs in a cell's DNA and this is called a mutation. - Because a mutation in a gene causes a change in the protein that is made, the enzyme is nonfunctional. Types of mutations - Mutations can range from changes in a single base pair in the coding sequence of DNA to the deletions of large pieces of chromosomes. - Point mutations involve a chemical change in just one base pair and can be enough to cause a genetic disorder. - A point mutation in which one base is exchanged for another is called a substitution. - Most substitutions are missense mutations, where the DNA code is altered so that it codes for the wrong amino acid. - Other substitutions, called nonsense mutations, change the codon for an amino acid to a stop codon. Nonsense mutations cause translation to terminate early. Nearly all nonsense mutations lead to proteins that cannot function normally. - Another type of mutation that can occur involves the gain or loss of a nucleotide in the DNA sequence.