Alan's genetics page

Alan's Genetics Page
Page updated Feb 13

My latest in a long line of unexplained sudden interests is genetics. I knew that these is some kind of big revolution going on and it was about genetics, but until recently I knew absolutely nothing about the subject and so had very little idea what this was all about.

Well actually I can explain what triggered this sudden interest: It happened when I found THESE lectures on Youtube by Robert Sapolsky, within minutes I was hooked. What I was learning was just staggering, if you have not seen these lectures then you must. There are many hours of lectures but every minute is just full of fascinating / life changing information and Professor Sapolsky delivers them beautifully (btw-these lectures cover a lot of subjects other than just genetics)

I also recommend the book Genome by Matt Ridley - it is not a technical book, it tells some of the most amazing stories from the world of genetics - a very easy read.

Stuff I find interesting:

It is now possible that a whole genome can be sequenced in a week. In 2003 when the first human genome had finally been sequenced it had taken 13 years, a worldwide effort taking many billions of pounds this demonstrates just how quickly genetic technology is coming on, we are clearly at the beginning of a world changing revolution and this is something we all need to have a basic understanding of. I would imagine that in a few years it will become standard practice for everyone to have their genome sequenced....

Human DNA consists of 23 chromosomes which contain around 3.2 billion base pairs, this equates to about the amount of data which can be stored on a CD Rom (786mb - more info HERE), each cell in your body contains two sets of these (one from each parent) this equates to around 1.5 gigabytes in total. The DNA is a very small part of a cell, a single cell can not be seen with the naked eye, so when you are next amazed by how small the memory card in your phone is, it is worth remembering that to store 16gb of information would only require the dna from 10 of your cells - we have a long way to go yet before we catch up with nature.....
BTW - It is interesting how dna is digital and so can be compared to computer technology in this way. As a computer person learning about genetics it is apparent how similar the two fields can seem............it can sometimes be more like learning about an advanced computer than biology !

If you take all the DNA in a single human cell and stretch it out, it would be 2 meters long. If you did this with all the cells in your body the total length would be 113 billion miles !

My Story

After watching many lectures and reading several books on genetics I decided the best way to learn more about all of this would be to look at what information can be found in my own DNA, so I started looking into if there is any way I could get my genome sequenced.
As I suspected it is far more expensive than I am prepared to pay - although it seems you can now get the main parts of your genome sequenced for around $1000 (see Manuel Corpas's blog - link below) I don't think this is really an option for myself yet.

There are however companies who will test a lot of standard variations in your genome ( SNPs - pronounced snips ) for around £180 (including a years subscription and postage both ways) This is more like the sort of price I can afford, so without delay I sent off for the kit from 23ANDME - so watch this space for the continuing story on what develops from this adventure !
See a great presentation on what 23andme is all about HERE
Note: before doing this yourself it is worth taking some time to consider if you really want to know the sort of information which may come from this sort of test.

23andme provide a lot of information on-line when you have the results, keeping you up to date with the latest information, providing forums, lots of ways to add to your info to help with the scientific research they do etc. so it should be a very interesting and worthwhile exercise. You can also download the raw data and load this into other applications and explore the results this way.
HERE is a short video showing how worthwhile this service (personal genomics) can be to an individual.

26-10-11 The kit is coming from California so I expected it to take a long time to get to me, but 4 days later it arrived - my sample has now been sent off to California
I Had a look at SNPedia last night, looks like this site will be very interesting as I will be able to feed my raw data into this and pull out lots of info.

28-10-11 Received an email to say my sample has arrived at 23andme - pretty quick! It will now take 4-6 weeks for my results to be ready.

18-11-11 My results have arrived! just starting to get to grips with what they mean now

The first thing I have noticed is I carry a mutated gene which results in a reduction of levels of Alpha-1 antitrypsin (no, I had never heard of it either) which is a protein giving protection to the lungs and liver from damage.
I am heterozygous (i.e. the two copies of this gene I have are different) so I have one normal and one mutated copy, the mutated version I have still functions but only produces 60-70% of the levels it should.
As this gene is codominant (i.e. each copy of the gene should produce 50% of my alpha-1 antitrypsin requirement) by my calculation this means I only have 80% the levels of this protein which I should. I don't think this is low enough to worry about but it may be worth mentioning to my doctor next time I visit as it can lead to emphysema. More info HERE.

See a report on my SNP results HERE

20-02-13 I received an email from Ian Logan to let me know he has kindly run my results through his program which "looks at 23andMe results and finds the 40-100 most rare/uncommon results out of the 900,000+ tested" - this can be seen HERE
He informs me that:

	Your results shows your European background well.
	You do not have any homozygous-recessive results; and no suggestion of consanguinity in the pedigree.
	I note that your results do not show any other SNPs of particular note (as far as I know at present).
	Although some of them are unusual and interesting nevertheless.

I now need to spend some time now figuring out what it all means.

Interesting things to have a look at:
BTW - If you found this page interesting, you may also like to have a look at my page on MRI scanners - HERE

Robert Sapolsky - lectures - MUST SEE !

Professor Stephen C. Stearns - lectures on Principles of Evolution, Ecology and Behavior

23ANDME.COM - Get your own genotype information

openSNP - Share your genotype info with the world

SNPedia - Lots of info on SNPs and the Promethease software

You can contact me on - alanesq@disroot.org

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