Thursday, November 6, 2008


The day after Halloween, after more than five weeks waiting, the company 23andme finally returned me the results of my DNA test. I was so excited I could barely wait to see. The first impression I had was that there were so many things to look at I did not know where to start. I will start with what was the most fun.
By virtue of being a male, 23andme genotyped both my mitochondrial DNA and my Y chromosome. These two are very special pieces of DNA since they cannot go under recombination. This means that they are passed generation after generation without mixing or changing, other than for mutations. But mutations are rare so they change little even in a 1000 year span. You get the first one from your mom and the second from your dad, if you are a male.
It turned out that my mitochondrial DNA belongs to haplotype H13a1, a rare group that is mainly common around the Caspian sea. According to the history, it was brought to Southern Italy and Southern Spain during the last ice age, something like 20000 years ago. My Y chromosome belongs instead to haplogroup J2, a kind that seems to be very common in Southern Europe, Northern Africa and the Middle East. Again, according to the history, it seems to have migrated multiple times from the Fertile Crescent to Europe and in particular to Italy where it is overall pretty common.
If you are curios about your ancestry you might find this very interesting. Although it only relates to your maternal line and your paternal line. So, for example, it does not witness the fact that I am 25% Greek. Something else surely does though. If you are interested in your ancestry then this might be a first step but you might want to look at It seems that this company now teamed up with 23andme. Their service works as follows: you try to give them as much information as you can about your pedigree and if you far back enough you end up connecting with the archives that they built that could go back up to the 1600. They only did this for America and Europe but they claim to have already collected more than a billion entries, together with the people that subscribe to their services. My understanding is that 23andme and will do for the world what the company deCODEme did for all the Icelanders. Something we probably all thought impossible 10 years ago will be something normal in an even shorter time.
It might be fun to look at this kind of information, although we do not need to know our ancestry to know how our DNA affects us. It would be enough to understand its language. The real information that determines us is in the rest of the chromosomes. There are almost 100 associations described, as I write, that can be accessed through the 23andme website. These are divided in four categories, associations that put you at a more elevated risk, associations that put you at a decreased risk, associations that put you at a typical risk, and finally associations with traits that are not considered diseases. For example I could confirm the fact that I am an heterozygous for eye color, that is, my eyes are not blue but I can have a child with blue eyes. I seem to be lactose intolerant. This does not mean that I cannot drink milk but only that my ability to digest it decreases faster as years go by. This comes as no surprise since the mutation that prevents that is common only in Northern Europeans.
I also am not a carrier for three severe recessive diseases like cystic fibrosis and others for which the genetic reason has been identified. Not that my life is going to change much because of this, at least not any soon, but it is cool to know. There are so many more things to say that I will stop with a last one. Going bald is something that is usually inherited from your mom, in the meaning that your father has little to do with it. The reason is that a variant of a gene on chromosome X, inherited only from the mom for males, prevents you from going bald (to be precise you have 11 times less chances, but this is a very strong association). It turns out that I do have that variant. This was very cool, also because it is one of the few variations for which I know who I inherited it from.
My next goal now is to convince other people to do it as well. Why is that? Because I believe that what I paid for now is only the tip of the iceberg. The more people will be genotyped the more people will know about the way genes affect people lives. This service gives you at the same time the ability to know more about yourself and help other people know more about themselves. As 23andme puts it, in the same way you help research by giving some money to participate in a race, you can also do it by giving your DNA available for research. Your single contribution will not make the difference but if many people do it, their overall contributions will.
It costs only $399 and that means that everybody in the civilized world can afford it. Now it is only a matter of making people understand why it so important. I believe that in the next 10 years it will change the way we look at what we are and, furthermore, it will give a new insight of what directed evolution to shape us the way we are. How could you not be curios about that?


cariaso said...

explains how to get more from your data

rebecca said...

ben 5 settimane per analizzare uno sputazzo???


freeseek said...

Beh, dovevano prima essere sicuri che non fossi il prescelto, nel qual caso mi avrebbero mandato un agente con una pasticca rossa ed una blu.

rebecca said...

caspita, sei un po' caspico!
a scoppio ritardato ho riletto tutto con calma...
dai dai, dì qualcosa di nuovo.