2009-Mar-24, Tuesday

kiss me, i'm irish

2009-Mar-24, Tuesday 12:23 am
mellowtigger: (dna)
I know nothing about my family heritage other than "Irish".  Someone once mentioned: Tennessee, 1800s, Irish.  Someone else would mention Irish marrying other Irish, and later more Irish marrying into the family, and later some more Irish.  Mind you, I never once heard a name associated with any of these cases.  There was only the word Irish.  That, plus we'd always been poor and there was alcoholism in the family too.  Not that racist stereotypes are to always be believed, of course.  *big shrug*  I'm just saying that the little bit I'd heard seemed to fit with the reality of American history, where the Irish lived and worked on plantations with the slaves... in Tennessee... in the mid-1800s, I think.

Well, the haplogroup testing seems to confirm it.
http://en.wikipedia.org/wiki/Human_mitochondrial_DNA_haplogroup
http://en.wikipedia.org/wiki/Human_Y-chromosome_DNA_haplogroup

maternal U5b2paternal R1b1c7

The maternal haplogroup U5b2 (left photo) is generally northern European, but it is also commonly found throughout Europe.  The paternal haplogroup R1b1c7 (right photo) is much more specific though.  The text at 23andme even says, "R1b1c7 reaches its peak in Ireland".

So, yes, I am Irish.

slow going...

2009-Mar-24, Tuesday 11:44 am
mellowtigger: (Default)
Does "8636C>A (rs1804197)" mean that the cytosine base is associated with the risk-in-question as opposed to the adenine base which is the standard form?  Argh!
http://www3.interscience.wiley.com/journal/114025178/abstract

I'm having similar problems interpreting spreadsheets of data whose column headers are abbreviations, but I don't know what the abbreviations mean.  :(
http://hmg.oxfordjournals.org/content/vol0/issue2007/images/data/ddm015/DC1/ddm015supptab1.xls

I tried loading my data file into the OpenOffice database, but it has no import function!  You have to copy-and-paste from their spreadsheet program but it limits files to 65k rows of data.  *SIGH*  I guess I won't quickly be getting statistics about deletions and no-call results.  I need a full-blown Microsoft Access program, I think, or else better familiarity with importing into other SQL databases.

*grrrrr*  Time to go to work.  Pesky "earn a living" process.
mellowtigger: (dna)
First draft, but I just want to get something "finished" enough to post, because I have other tasks to work on this week and need to try getting this one out of my head for a short while.  Summary:  I have 4 autism markers, 2 uncertain, several normal markers, and many that remain untested or unexplained.

geneaddressnormalautism riskmereference
METrs1858830GGCC x 2.27, CG x 1.67CCPubMed
ADRB2rs1042714
CCGG x 1.33 - 1.60 (or even twice that)GGPubMed
GABRB2rs2617503CC or TTCT x ?CTScienceDirect
APCrs1804197AACC x ?CCPubMed
NPAS2rs1811399?C (unspecified heterozygous risk)ACNature
EN2rs1861973?C (unspecified heterozygous risk)CTNature

For many autism markers, I have the typical dna pattern instead.  There are a lot of markers that are not tested by 23andme.  There are many studies which mention specific SNP addresses but their summaries do not indicate which base pairs were involved (and I can't afford to purchase all of those articles for their details).

Some markers were tested, but I had results not indicated in any expected combination.  For example, I have AA at rs2710102 (CNTNAP2 gene) but expected values according to the article are CC, CT, and TT for Caucasian Europeans.  Similar shenanigans occur at rs1322784 (DISC1 gene).  What these differences are supposed to mean, I have no idea.  Are they:
  1. bad gene chip results (disappointing),
  2. contamination (also disappointing),
  3. brand new mutation (exciting!), or
  4. a data mixup in how the SNP addresses are reported (confusing)?
Apparently there's some kind of left-hand versus right-hand notation involved in naming the "rs#" addresses, so it could easily be a translation problem there.   Some texts, however, were just plain confusing, like rs1861972 and rs1861973 which seem to simultaneously associate for and against autism, unless I'm misreading that somehow.  I didn't get enough sleep last night, so maybe I should try again in a few days with a fresher mind.

I still have more references to check.  There are so many autism markers!  More to say in the second draft later, I guess.

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