illuminating science

27/10/2005

DNA map spells out genetic variation

Filed under: — Joel @ 10:36 am

An international partnership of 200 scientists are compiling a map of the genetic variations in our DNA. The Human Genome Project has already sequenced a huge amount of our DNA, and shown that any two people are 99.9% identical - i.e., only one gene in a thousand differs between you and I (unless you’re female, which probably skews things slightly, with the whole XY chromosome thing!)

The newInternational HapMap Project (or see Wikipedia) is designed to examine that remaining .1% difference, and to understand the role of the genes that make us different. Ultimately, this may lead us to the genetic influence on diseases such as cancer, heart disease, asthma, etc., and perhaps bring us one step closer to a cure, or at least better treatment.

They’ve sampled a group of about 270 people from all around the world, which will apparently give them a sample of the vast majority of genetic variations in the world (wow!). And all the data will be made freely available for anyone to work with and use. There’s still the possibility, however, for researchers who discover a particular use for some of the data (e.g., this gene causes cancer) to apply for a patent on that use, which I have mixed feelings about. On the one hand, this will encourage people (financially!) to develop drugs that act on these discoveries, but on the other hand we end up with medicine which may be expensive, restricted, etc. I think that’s a small point however; the important thing is that researchers all around the world will benefit from this knowledge - anyone, even you or I, can download the database from the web, but I’d wager that I won’t understand what I’m reading :)

I think this makes it a pretty exciting time for genetic researchers - and who knows where this will lead? Of course, the data is no good if we don’t understand what the effect and function of each variation is - a much more complex task than even getting the data! But a full understanding of our genome will be a major step forward in our understanding of our bodies and life, and we’re well on the way.

Update: More thoughts here.

J Says:

Is 270 people enough? I havent read the study .. but that figure .. 270 sounds like too small a sample .. still it’s better than zero and I am sure it’s “good enough” for present purposes.

Joel Says:

I was really surprised by that too - it does seem too small. Then again, they’re drawing the people from all around the world, different ethnic groups, etc. They also said (and I can’t find the exact reference now) that they’ll detect variations occuring in at least 5% of the population. You can probably argue that the chance of one of these not occuring (.95^270=0.0000001, assuming, somewhat incorrectly, that everyone is independent) is so slim as to be pretty certain you found them all.

But I agree, as a first pass study regardless, this is probably “good enough”.

 
 

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