Can DNA variations be detected? Alec Jeffreys

Interviewee: Alec Jeffreys. Can DNA variations be detected?

The very obvious thing to do is to put genetics and this new science of, you know, looking at human genes put them together, and ask a very simple question, can you detect DNA variation, inherited variation between human beings? It's got to be there; it's the absolute basis of all human inherited variation whether it's an inherited disease or the way you look, facial features and so on. So that was in 1977, we'd worked out, it's called the RFLP method, so we were one of the first people to have a go at doing this. And we picked up our very first variant, in fact and the technician is still working in my laboratory out there. So we scanned this panel of people and she stood out as having a peculiar pattern in a gene. This was not a disease variant. This was just an ordinary variation in the DNA, which for the first time we could actually pick up. And the first question we asked, we thought right, now this variant in her has most likely been inherited from one of her parents, it was just possible it could have been a new mutation. So we then asked, you know, any chance of getting a blood sample from your mum and dad. So she said fine. So we got the parents' blood samples in, so she was carrying this actually quite scarce variant. Her mother didn't have it but her father did, so that established that this has been inherited from her father through to her. Now with the wisdom of hindsight of course what I'd just done was a paternity test, based on DNA.

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