Alan's Genetics 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
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
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
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 !
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
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
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.
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
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
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.
I now need to spend some time now figuring out what it all means.
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.
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
- 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 - firstname.lastname@example.org
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