Re: The human genome project is mapping the genome. Whose is it mapping?

This is an interesting one.

To begin with the biology, we all have the same set of genes but they vary from person to person. All VW Beetles are basically the same but they differ in color, and in other ways. Now, none of these variations affect the way they work - a green one goes just as well as a blue one. In the same way my beta globin gene may differ from yours, but our beta globin genes work fine. However, there are some variations that don't work so well. Suppose one Beetle was built with a defective starter motor - that's a variation that makes a difference, just like the change in the beta globin gene that leads to sickle cell anemia. Now, when you look at the sequence of the beta globin gene in the databases, you find that it is annotated. There is _a_ sequence but people have marked where that sequence is different from the one they have determined.

At one time it was expected that the "final" sequence would be an amalgamation of all the sequences people have determined from a wide variety of people. It seems now that the sequence will, for technical reasons having to do with the diffculties and cost of preparing DNA for sequencing, be derived from a much smaller number of individuals.

You can look at the beta globin gene yourself at: http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=455025&form=6&db=n&