mellowtigger: (dna)
*SIGH*  23AndMe doesn't test for position rs190509934.  :(

"... and reduces the risk of SARS-CoV-2 infection by 40%... "
https://www.nature.com/articles/s41588-021-01006-7

mellowtigger: (dna)
A few weeks back, I bought a new 23AndMe test kit. I wanted testing on newer chip technology. The results are finally back.

On my "Carrier Status" report, I have no detections at all. That's good news.

On my "Health Predisposition" report, I have only two conditions detected.
  1. Age-Related Macular Degeneration - "Increased risk", with 2 markers tested
    • I have the "C" variant for Y402H, gene CFH, marker rs1061170. I have 2 copies, which means both of my parents likely have their own copies too.
    • I have the "T" variant for A69S, gene ARMS2, marker rs10490924. I have only 1 copy, so only one of my parents would have that too.

  2. Hereditary Hemochromatosis (HFE-Related) - "Variant detected, not likely at increased risk", with 2 markers tested
    • I have the "G" variant for H63D, gene HFE, marker rs1799945.  I have only 1 copy.  My mother was told recently by a doctor about her own risk for hemochromatosis, so I'm reasonably sure that I got my copy from her.  Wikipedia says this trait is particularly common in people of Celtic descent.
    • I was normal on the other variant tested, which means I have very low risk of developing iron accumulation problems myself.  My body can create the proper proteins to metabolize iron safely.
Still, after all these years, 23AndMe provides no risk predisposition assessment for the many genes already associated with autism.  I still want to update my assessment, but I have too many other things to ponder (and avoid) these days.  It's very unlikely to happen any time soon.

autism dna markers

2021-Sep-21, Tuesday 01:25 pm
mellowtigger: (dna mouse)

Just filing this link away for later use.  I still need to update my genetic risk review from more than a decade ago.

This SPARK list includes both CNVs (copy number variations) and SNPs (single nucleotide polymorphisms).
https://d2dxtcm9g2oro2.cloudfront.net/wp-content/uploads/2020/07/13153839/SPARK_gene_list_July2020.pdf 
(and archive, just in case of deletion)

I used the 23andme.com website for my genetic testing, long ago.  They do not test CNVs, but they do test SNPs ("snips"), but only if their device just happens to include those genetic addresses on it.  I'm sure the new microchips are more accurate and have a wider variety than before, but... I'd want to check on that before paying for more tests.  And I'm not sure if they're allowed to provide direct access to data any more.  The U.S. federal government intervened a while back on this point.  I would need access to that raw data to complete my own comparison.

genetic ancestry

2014-Feb-01, Saturday 10:22 am
mellowtigger: (dna mouse)
I am 3.0% Neanderthal. 

Scientists have been slowly gathering testable dna samples from Neanderthal remains, but the best sample came from a 130,000-year-old toe bone.  It allowed sequencing for the entire genome, published just a month ago.  Various companies that do genetic testing are able to offer this comparison now, but my results are from 23 And Me.  Apparently interbreeding between human species happened a very long time ago, so Neanderthal genes are found in both European and Asian populations today.  Supposedly the typical European holds only about 1.7% similarity.  I'm placed in the 88th percentile among Europeans, according to 23 And Me.

I figure it's only a matter of time until somebody tries to revive the species, just as predicted in the book "Existence" (which I liked).  I'd like to meet them.  I think I'd have more in common with them than the typical Homo sapiens, besides just the eyebrows and bigger skull.  I suspect that Neanderthal psychology will have a lot more in common with modern autistics than modern neurotypicals.  I guess we'll all find out soon enough.

Slightly less dramatic, but another patron at 23 And Me might actually be a blood relative.  The website has long notified people of distant ancestry relations based on their genetic sequencing, but they added a new feature where people can build an actual family tree with names and dates.  Someone contacted me recently, and we share a suspiciously similar name in our pasts.  One of his ancestors is a "William B Walker" (born 1789) and one of mine is "Willie Burkes Walker" (born 1889).  Both family lines include tales of Tennessee before relocating to Texas.  Alone, those similarities are just coincidences, but the genetic similarity suggests that my "Willie B" might have been named after somebody's memory of a related "Willie B".  Again, time will tell.  This technology will just keep improving as the years go by.

Someday, as in the movie "Gattaca", babies will be sequenced routinely by the time of their birth.  Probably, they'll be sequenced soon after conception, so potential diseases can be addressed while the body is still in development.

Strange.  Someday, genetics might allow me to meet kin from ancestors a few centuries ago or a few hundred millenia ago.  Throw in an uplifted chimpanzee, then we'll hold a proper family reunion.
mellowtigger: (dna)
phylogenetic treeTwo of the requirements for the current definition of "life" are these: the ability to self-regulate (homoeostasis) and the ability to reproduce. It turns out that these two processes might not have to be separate.

Scientists cultivate an extremophile called Haloferax volcanii which came from the extremely salty Dead Sea.  Because it survives in that harsh environment, astrobiologists wonder if we will find its relatives in the similar environment on the surface of Mars.  A recent study into this ancient form of Earth life (called "archaea") hint that this microscopic life might be very common. It revealed that a mechanism for homeostasis can be commandeered by archaea for use in replication.  This discovery has ramifications for both astrobiology and cancer research.

Normally, a cell's daily workings result in damage to its dna, so it employs processes to repair that damage.  These micro-repair mechanisms are different from those used to produce a full copy of the dna during replication.  Archaea reveals, however, that it can induce a simultaneous bloom of micro-repairs that results in a complete copy of the original dna.

However, the Nottingham study, funded by the Biotechnology and Biological Sciences Research Council (BBSRC) and the Royal Society, found that the Haloferax volcanii is able to spontaneously begin a chain reaction of replication all around its chromosomes even when its replication origins have been eliminated. In addition, the scientists discovered that far from being disadvantaged by having to employ this novel survival method, the archaea without chromosomal origins grew faster.

“The amazing thing that we found wasn’t just that deleting the origins still allowed the cells to grow, but that they now actually grew almost 10 per cent faster. Everybody was thinking, ‘where’s the catch?’ But we haven’t found one” Dr Conrad Nieduszynski said. “The way cells initiates this replication process is to use a form of DNA repair that exists in all of us, but they just hijack this process for a different purpose. By using this mechanism, they kick-start replication at multiple sites around the chromosome at the same time.”
- http://www.astrobio.net/pressrelease/5805/an-archaeas-unexpected-route-to-reproduction

Interesting news.  It offers a boost to the likelihood of panspermia theory being reality.  When we venture into the universe, we may find it a much "dirtier" (and thriving) environment than we envisioned a century ago.

(p.s. I chose the title as a play on Mr. Spock's analysis in Star Trekkin' lyrics from 1987.)

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