• Question: What is the human genome and why is it useful, How was the human genome mapped?

    Asked by dramaalpacca to Lilly on 17 Mar 2014.
    • Photo: Lilian Hunt

      Lilian Hunt answered on 17 Mar 2014:


      The human genome is the complete set of genetic information for humans, a recording of our DNA from start to finish. The human genome project completed the first sequence of an individual human genome. It was mapped through DNA sequencing. We broke the human DNA into pieces about 150,000 bases long and then sequenced. Then, a bit like fitting together pieces of a jigsaw puzzle, we mapped all the bits together to work out what went where. Now we have a reference human genome, and have worked out what a lot of the genes in ti do. There’s still a lot of missing information about the function of some pieces but we do have the full sequence.

      This is really useful, as it means we can look at people with genetic disorders and compare their genome to the reference human genome to work out what’s different. Then we can say if those differences cause the genetic disorder. I use this method a lot in my work. Once you know the genetic cause of a disorder, you’re a step closer to being able to treat or cure it! 🙂

Comments