Heterozygotes Puns

Any thoughts on these labs? Should I suspect HH?

*Edited: since my initial post, my doctor ordered a full iron panel:

Iron: 341 mcg/dL

TIBC: 369 mcg/dL

Sat: 92%

Ferritin: 23 ng/mL

Demographics:

Age: 38

Sex at birth: Female

Gender: Trans (FTM)

Meds: Adderall, Truvada, testosterone, vitamin D

Symptoms: Labs were ordered re: insomnia

Hi all

I have a question from my exam studying. How do we know that the II3 individual has a 2/3 chance of being heterozygote? Where does this number come from? The question is inserted as an image (the answer is A)

I get that the child (III1) will show the trait if they are aa. Which means that II3 has to be Aa in this case. If we just consider this bottom branch of the pedigree, then III1 has a 1/4 chance of being aa. But we also have to consider the chance of II3 being heterozygous in the first place. How is this probability 2/3?

https://preview.redd.it/wbznkz770sk41.png?width=576&format=png&auto=webp&s=e3e2155b4d837525d47df5f5032cb76ce06b1d71

I understand that if two codominant alleles are present, both genes will manifest completely. But I can't visualise how this would occur with traits that arent discrete like blood groups. I was asked this question for a gene that controls the body length of the organism. I understand there's a difference between codominance and incomplete dominance, how does it apply to this situation?

Say the alles are normal (a) and dumpy (A). How would the offspring look? It can't possibly be both normal length and dumpy. Thank you if you can help, I'm quite confused.

Hello, I'm a student Nurse and health care aide. I may have to work closer to COVID19 due to increased cases in my city. I am also heterozygous for Alpha-1 Antitrypsin Deficiency. I'm curious if any Alpha-1 Antitrypsin Deficiency heterozygotes who caught COVID could share their experience.

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.

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?

28 years old Male.

I have very low APOB ( < 0.45 g/L ), low total cholesterol, low LDL, average HDL, triglycerides in the high range, very low Cortisol, low Testosterone; Adrenal glands are OK (ACTH stimulation test).

Consuming fats gives my liver the same "feeling" of excess alcohol consumption; Only Coconut Oil seems to be OK.

My doctor wants me to undergo an expensive genetic test, something involved with truncated APO B-100 B-48 proteins.

He told me there would be no treatment aside from consuming MCT oils, Vitamin A, E, K, and limiting long-chain fat intake.

I saw some synthetic APOB-100 on sale, would it be possible to treat this deficiency with injections like it is done with diabetes (thanks to insulin injections) ?

This article really drove home the concept of heterozygotes for me. There are neanderthal genes still present in the human population that actively influence things life height.

https://www.newscientist.com/article/2122362-extinct-neanderthals-still-control-expression-of-human-genes/

I know that colorblindness is a recessive disease on the X-chromosome. Since women has got two X chromosomes, they'd have to be homozygote to get the disease, However:

I recently learned that women has one of their X-chromosomes inactive in every cell (Dappled female cats is an example of this, the X-chromosomes carries different genes for hair-color). Which X-chromosome goes inactive varies, and is apparently random. The shut-down of one of the X-chromosomes in every cell happens when the fetus is 3 weeks old (at a diameter of aprox 0.2 mm). Every daughter-cell has the same active X-Chromosome as their mother-cell. This leads me to my question.

Would it be possible for a woman with only one of her x-chromosomes diseased to still get colorblind, if all of the cones in her eyes had the infected X-chromosome active?

As a follow up question, Would it be possible for a woman to have one colorblind eye, and one healthy one?

I'm trying to write a paper for my evolution class on heterozygote advantage, and I am discovering it is a very controversial topic. What are your thoughts about it?

Dear X, I am working in a worm genetics lab and my project is to study a newly isolated gene him-5. I know you are thinking “worms?-wtf????”, but yeah this is hella cool stuff where we are finding out how diseases like Down syndrome occur. This happens when chromosomes missegregate during meiosis to form haploid eggs with to many or too few chromosomes. Now, a mutation in the him-5 gene causes a phenotype where the worms lay green eggs- I had some for breakfast with ham this morning –lol ;). I have isolated several mutant alleles of this gene after mutagenesis and am now comparing the phenotypes of the various heterozygotes. You should come visit some time and I’ll show you the green glowing worms. TTYL-Sean

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!