My Cherokee Princess

Oct. 23rd, 2016 11:14 pm
dragonfly: stained glass dragonfly in iridescent colors (Default)
[personal profile] dragonfly posting in [community profile] genealogy
Ha! I've always been just a bit scornful of the common myth that people have Native American in their family trees. We know that it's usually spurious -- as a general rule, European immigrants didn't "mix" with Native Americans. Yes, it's probably unprovable in my family, as well, but, well, here's what happened.

I was talking to my uncle about the things I've learned about our ancestors. I said something to him like, "You know what your father told me?" I was talking about the supposed Irish origin of our family (our name does not look Irish), but he said, "He told you he was 1/32 Indian?"

What TF?

Uh, no. I don't remember him saying that. Yeah, my uncle told me, his father -- my grandfather -- said he was 1/32 Native American, probably on his mother's side, since we can trace his father's side straight back to Ireland on almost all lines. We discussed it and decided that most likely one of my grandfather's maternal uncles told him they were 1/16th NA. So I calculated back from that generation, and I swear -- no joke -- I hit a generation where I don't know their parents. I just have nothing.

::hangs head:: so my family has the Native American ancestry legend, too. Of course, my DNA showed absolutely no Native American, so there's that.


Oct. 18th, 2016 04:56 pm
rainbow: drawing of a pink furred cat person with purple eyes and heart shaped glasses. their name is catastrfy. (Default)
[personal profile] rainbow
oh man, this is FASCINATING -- a genetic link: duplication or triplication of a gene called TPSAB1, which leads to high tryptase levels.

Mental Floss reported on it yesterday here.

"The latest study, led by Joshua Milner at the National Institute of Allergy and Infectious Diseases, involved 96 people with EDS-HT and mast cell issues. POTS symptoms were common, especially gut problems like Irritable Bowel Syndrome.

The study participants had another thing in common: higher-than-normal levels of a protein called tryptase in their blood. Tryptase is part of the immune system’s reaction and has been linked to a handful of core EDS-HT and POTS symptoms, Milner says.

"Tryptase can contribute to pain sensitivity," he told me. "It can contribute to blood vessels doing funny things, and it can contribute to how your connective tissue, your bones and joints, are made."

Most people with mast cell issues actually have normal levels of tryptase, so the group Milner and his colleagues tested represented just a small subset of mast cell patients. But that subset did seem to have a unique genetic signature: an extra copy of a gene called TPSAB1. Under normal circumstances, TPSAB1 makes a form of tryptase called alpha-tryptase. People with a double dose of the gene are getting a double dose of the protein, too."

The article is available at here

"Elevated basal serum tryptase levels are present in 4–6% of
the general population, but the cause and relevance of such
increases are unknown. Previously, we described subjects
with dominantly inherited elevated basal serum tryptase levels
associated with multisystem complaints including cutaneous
flushing and pruritus, dysautonomia, functional gastrointestinal
symptoms, chronic pain, and connective tissue abnormalities,
including joint hypermobility. Here we report the identification
of germline duplications and triplications in the TPSAB1 gene
encoding a-tryptase that segregate with inherited increases
in basal serum tryptase levels in 35 families presenting with
associated multisystem complaints. Individuals harboring alleles
encoding three copies of a-tryptase had higher basal serum levels
of tryptase and were more symptomatic than those with alleles
encoding two copies, suggesting a gene-dose effect. Further, we
found in two additional cohorts (172 individuals) that elevated
basal serum tryptase levels were exclusively associated with
duplication of a-tryptase–encoding sequence in TPSAB1, and
affected individuals reported symptom complexes seen in our
initial familial cohort. Thus, our findings link duplications in
TPSAB1 with irritable bowel syndrome, cutaneous complaints,
connective tissue abnormalities, and dysautonomia"

table one? is me except for the beighton score (i was dxed with eds in 72, before the beighton scale was developed) and i had only a "poor man's tilt table test", which was positive.

i found the compass-31 scale online and took it -- raw 51.5, weighted 70.1. i couldn't find a reference scale, but i'mpretty sure that's more than a bit high.

i am FASCINATED by this. so much so that i emailed one of the authors askingif SNPs had been identified that i could look up in my autosomal dna results.

Genetic Genealogy Question

Oct. 17th, 2016 09:36 am
blueswan: nancy drew silhouette (sometimes I feel like a detective)
[personal profile] blueswan posting in [community profile] genealogy
I've been satisfied with how Ancestry has shaken loose new information through my dna results. In an attempt to shake more loose, I bought a kit during the last sale and got my sister to test. (There are no relatives left from earlier generations.) That is not optimal but has resulted in more people to add to my tree. So I am pleased by those results.

I've also uploaded both results to Gedmatch. Gedmatch hasn't been as helpful to be honest. The good part is it reconfirmed several individuals for whom the paperwork also indicated a relationship. But I already has those results from ancestry. However, it was good to know ancestry results are valid.

I'm considering asking my brother's son to do a Y test. There is an ongoing surname project to which I'd like to submit his results. There are rumours about being related to some people in American history, about which I'm dubious. But, I'm just curious enough to see if that sort of test might break some walls down in my father's family, while also confirming or denying those rumours.

I've been thinking about doing a mitochondrial test using my sister's daughter. She is soon going to be adding another daughter to the line of women in my family. I can only get back to 1861 so far following my mom's matrilineal line. I'm stuck at my 2nd great-grandmother for whom I only know her first name and that she was born in the US, possibly in New York state. It's a brick wall that has stymied people who have been researching that avenue far longer than I have.

I know very little about genetic genealogy. I've joined some groups and I'm reading up on the subject, so I'm trying to learn more, but the curve is very steep from my perspective. My question is would testing a niece and a nephew help to put a crack in those particular puzzles at all? If so, which company should I test with and should I just do the MtDNA and Y tests, or full tests? From what I've seen the other companies charge a fair bit more for Mt and Y testing than Ancestry does for autosomnal testing. That's a factor I have to consider.

Thanks for reading.
rainbow: drawing of a pink furred cat person with purple eyes and heart shaped glasses. their name is catastrfy. (Default)
[personal profile] rainbow

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photo )

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Dee Burris Blakley

October 2016


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