Homozygote Puns

Hi. I tested as Factor XIII homozygote in 2019 after a stroke and other medical issues. I was wondering if anyone here has the same and if so what kind of treatments you have been given. My hemotology Dr. wasn't very informative and just said that I have to take Eliquis for ever and that my primary could take over the RX and that I don't have to see him anymore. I admit that when this happened I had just had a stroke and my brain was a mess. A few months later I called for clarification and they called back and told me basically every thing is fine. I have tried to get a better understanding of this online and I haven't seen blood thinners as treatment. So I'm just seeing if this seems normal.

Hitting maintenance soon (started 6m ago with 1000 ferretin, no liver damage)! wanted to know how often should I be visiting the vampire. I know it's very subjective, but maybe someone can tell me what their routine is so that I can get a sense of it?

Thanks!

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30F 5’5 118 lbs

I’m homozygous recessive for H63D. A geneticist diagnosed me with Ehlers-Danlos in 2018, but I question if this mutation contributes to worsening arthritic pain, especially in my hands. I have chronic diarrhea, bruise terribly, gastrointestinal problems, bladder problems, brain fog, fatigue, etc. I recently had over a month of hand OT and pelvic floor pt.

Could this play a role at all in any symptoms?

Articles I’ve scanned that mention H63D homozygosity:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2111641/

http://www.medicinearticle.com/JMR_20211_08.pdf

https://archivesofrheumatology.org/full-text/555

https://www.authorea.com/users/410930/articles/520150-h63d-syndrome-a-rare-clinical-phenotype-caused-by-a-homozygous-mutation-of-hfe-gene-h63d

https://www.rcpe.ac.uk/sites/default/files/jrcpe_48_3_kiely.pdf

These symptoms have been present since at least 2018. I rarely drink (sometimes a bottle of wine over a week), former smoker (about 3 years avg, quit Jan 2018), no drugs. I currently take Zoloft 100mg, Vyvanse 20mg as needed, probiotics, CBD oil from Lazarus Naturals, 1mg melatonin most nights for past 2-3 months.

5 allergy shots per week for 3 years in teens. Severe allergies/chronic sinus, ear, tonsil infections until early 20s. Tubes twice. Adenoids removed at 3 years old. Tonsils removed at 16. Have a history of chronic yeast infections, cellulitis.

Family history: mom (64) is diabetic, and it’s worsening almost regardless of her diet. Her sister developed Alzheimer’s at 53 (dx Johns Hopkins at 54) and her brother died from a heart attack at 46. I have first cousins with arthritis, Crohn’s, and UC. One has a colostomy bag after part of her bowel died. My grandmother had congenital hip deformities, 5-6 joint replacements, severe early OA, and Alzheimer’s.

has that impacted your experience with the carnivore diet?

do you take methylated versions of b12 and folate? does it make a difference in how you feel?

rs1799990(A;A) Increased chance of Prion Disease (PrP 129 Met homozygote) This genotype encodes for a homozygous Methionine at position 129 of PRNP, the Prion Protein gene (PrP-129MM). Unlike the protective M/V heterozgotes and V homozygous, homozygosity at this residue is associated with an increased susceptibility to sporadic CJD and and confers susceptibility against vCJD. All reported cases of vCJD, (linked to ingestion of 'mad cow disease' contaminated meat) have been 129 Met homozygous

This is what alert I got on my 23andMe data that I uploaded to Promethease, it says I have an increased risk of sporadic CJD compared to the general population and also susceptible to prions from meat??

Sooo what is my overall risk here? A little freaked out not gonna lie.

It says the magnitude is 2.3 (not quite sure what this means) and the prevalence of this mutation is 44.2%?

I’m a 27 year old male btw.

I'm really confused. I understand that if only one band appears in one lane, that means the sample contains 2 same alleles, making it homozygous. If two bands appear, that means the two alleles are of different lengths, so it's heterozygous. But how do I figure out which is the wild type and which is the mutant? I have a photo of my agarose gel if my question isn't clear enough. Thank you so much!

Basically, does having matching alleles give a bigger dose of surface antigens? Will someone with AA have more A surface antigens than someone with Ao?

In most cases of progressive retinal atrophy in the dog, disorders are autosomal recessive and only expressed in homozygotes for the mutant allele. But in a few exceptional cases, heterozygotes also show signs of the disease, albeit in reduced intensity.

What is the name of this principle?

Edit: I suppose incomplete dominance is the correct term, as the fenotype is not a mozaic of normal and mutant, but some sort of (relatively severe) intermediate. Thanks!

Let's say you're searching through a VCF with what are supposed to be germline variants. You find a variant that's present in only one person. In addition, this person is homozygous for that variant. The chances of finding a variant like this by random chance are pretty small. Only a handful of variants should be like this. Instead, you find over a thousand. Some are close to each other on the same person.

Also, the average person in a study population tends to only have a few hundred or thousand unique variants - about the same as the number of single homozygotes.

How likely is it that this variant call is the result of an early somatic SDSA repair vs. something else?

How can I find out if these "unique" spots are double-stranded-break/recombination hotspots?

As far as I can tell, the 1000 genomes and ExAC papers don't really mention this sort of scenario.

I'm just looking for opinions. Any input is welcome.

Form the information on promethease, what I gather, is this is very rare in white populations (enter: me.) It has to do with tissue reproduction that greatly increases the risk for several cancers, including breast cancer.(?) Is this anywhere near correct? I have no idea how to interpret any of this and don’t want to make assumptions.

I'm having a bit of a problem with a result of a study -

Is there an explanation for when heterozygotes for a gene confers higher risk for disease than either homozygotes?

From the study- Using wildtype as reference..

Heterozygote variants have risk of 1.22 (1.02-1.45) (harmful) Homozygote variants have risk of 0.51 (0.35-0.73) (protective)

How do I interpret this? Is this even biologically possible? If so, can anyone give me a rationale or example?

Thanks!

Could anyone give me more information on a duplication in 7q32.3q35 (132,009,957-143,609,515)x2 hmz test result?

So some context: I'm 20yo and I've had the nexplanon implant since late 2018 (getting ot replaced soon, COVID has sucked but research shows its still super super effective even after the 3y mark)

The strange thing: I miss having periods.

As a teen before I got the implant I had HORRIBLE periods. Extreme cramps, bleeding through pads in a couple hours, had to stop wearing tampons, crying on the floor at work kind of horrible periods. Ever since I got the implant, I've had maybe 2 periods in the last 3 years?

And as grateful as I am I'm not having these horrible periods anymore, part of me feels.... incomplete? Missing? I'm not sure really how to describe it, I just don't feel... whole, I guess.

I'm thinking about alternate BC, but I have Factor V Liedens and can't have estrogen based implants or it will cause severe blood clots. My doctor told me nexplanon is one of only 'safe' options for birth control for me, other than condoms (which I hate with a freaking passion, I'm in a committed long term relationship for the last 3 years, we live together etc, I have no concerns about std's)

Do you gals have any advice on, idk, dealing with not having periods? Or if you have the same disorder as me, what you've done with birth control? Or women's who've had copper implants, how much worse did it make your cramps?

EDIT: I should be more clear, I'm Factor V Leiden homozygotes, so I have both genes, meaning I'm at extremely high risk for clots with ANY hormonal birth control

I don't want to step on anybody's toes here, but the amount of non-dad jokes here in this subreddit really annoys me. First of all, dad jokes CAN be NSFW, it clearly says so in the sub rules. Secondly, it doesn't automatically make it a dad joke if it's from a conversation between you and your child. Most importantly, the jokes that your CHILDREN tell YOU are not dad jokes. The point of a dad joke is that it's so cheesy only a dad who's trying to be funny would make such a joke. That's it. They are stupid plays on words, lame puns and so on. There has to be a clever pun or wordplay for it to be considered a dad joke.

Again, to all the fellow dads, I apologise if I'm sounding too harsh. But I just needed to get it off my chest.

The nurse asked the rabbit, “what is your blood type?”

“I am probably a type O” said the rabbit.

The doctor says it terminal.

Alot of great jokes get posted here! However just because you have a joke, doesn't mean it's a dad joke.

THIS IS NOT ABOUT NSFW, THIS IS ABOUT LONG JOKES, BLONDE JOKES, SEXUAL JOKES, KNOCK KNOCK JOKES, POLITICAL JOKES, ETC BEING POSTED IN A DAD JOKE SUB

Try telling these sexual jokes that get posted here, to your kid and see how your spouse likes it.. if that goes well, Try telling one of your friends kid about your sex life being like Coca cola, first it was normal, than light and now zero , and see if the parents are OK with you telling their kid the "dad joke"

I'm not even referencing the NSFW, I'm saying Dad jokes are corny, and sometimes painful, not sexual

So check out r/jokes for all types of jokes

r/unclejokes for dirty jokes

r/3amjokes for real weird and alot of OC

r/cleandadjokes If your really sick of seeing not dad jokes in r/dadjokes

Punchline !

Edit: this is not a post about NSFW , This is about jokes, knock knock jokes, blonde jokes, political jokes etc being posted in a dad joke sub

Edit 2: don't touch the thermostat

Mentos

(I will see myself out)

Do your worst!

How the hell am I suppose to know when it’s raining in Sweden?

Mathematical puns makes me number

We told her she can lean on us for support. Although, we are going to have to change her driver's license, her height is going down by a foot. I don't want to go too far out on a limb here but it better not be a hack job.

Ants don’t even have the concept fathers, let alone a good dad joke. Keep r/ants out of my r/dadjokes.

But no, seriously. I understand rule 7 is great to have intelligent discussion, but sometimes it feels like 1 in 10 posts here is someone getting upset about the jokes on this sub. Let the mods deal with it, they regulate the sub.

Hi, my Promethease analysis reports that I have increased chance of Prion Disease (PrP 129 Met homozygote)

"rs1799990(A;A) Increased chance of Prion Disease (PrP 129 Met homozygote) This genotype encodes for a homozygous Methionine at position 129 of PRNP, the Prion Protein gene (PrP-129MM). Unlike the protective M/V heterozgotes and V homozygous, homozygosity at this residue is associated with an increased susceptibility to sporadic CJD and and confers susceptibility against vCJD. All reported cases of vCJD, (linked to ingestion of 'mad cow disease' contaminated meat) have been 129 Met homozygous"

I'm just trying to understand if this means that I have higher chances to develop CJD (and by how much, possibly) or if I'm definitely going to develop it further down the line.

Thank you!