Interviewee: Douglas Wallace Mitochondrial DNA and the founder effect

In every human being there's about six deleterious, that is disease-causing mutations. But those disease mutations in our bodies are masked, because we have two copies of every gene, one from our mother, one from our father. So if one is bad, the other is good, then our body is good, because it still has the right information. But if you now take a population of only five people, put them into an environment, and then have them all interbreed, then you've taken a limited number of these chromosomes, and now duplicated them many times, and then those people are marrying each other, so what can happen is, the bad gene can get duplicated in a brother and a sister, transmitted to their son and daughter, and then that pair of cousins could marry and that same gene that was now duplicated, could come back together, and you'd have now a mutant in both cases. And so now that, you don't have any good gene, then that person will have a disease. So what we see in these founder populations, is we get each founder population, it's a distinctive group, of rare diseases, because of this founder effect.

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