Autosomal Recessive Puns

My son has Achromatopsia. Neither myself, my husband, or his sister has Achromatopsia.

He had genetic testing that showed a variant on gene CNGB3. What were the odds of my son getting Achromatopsia? Ive seen some sources say 50/50 chance, I’ve seen some say 25% chance. Which is accurate? Even though my daughter doesn’t have it, is it most likely she is a carrier?

What are the odds he will have a child with Achromatopsia?

In October, we lost our daughter aged 15 weeks following a long hospitalization. We got a call a few weeks later from the genetics team to advise that she is affected by a very rare metabolic disorder stemming from a genetic mutation for which my spouse and I are both carriers. There are two other known cases in literature, and we have been told by the medical team that it’s incompatible with life.

As it is an autosomal recessive condition, we have 25% chance of a future sibling having the same condition and passing in the first months of life.

We’re heartbroken and mourning the lost of our daughter. This has added to our grief since we were planning on having siblings for our daughter and this is prompting some ethical questions. While pro-choice, our values were more aligned with pro-life choices when it comes to our own decisions. We’re therefore faced with dilemma when it comes to growing our family in the future.

Any other choice than bringing a future child to term is truly gut-wrenching, but we’re evaluating our options which we’ll discuss with a genetic counsellor in the next few months. We’ve more or less eliminated IVF with PGT-M (PGD) testing since the technology is fairly new and the jury is still out on the impacts it could have on a future child. In our area, our child would need to be followed by a pediatrician in the first years of life to follow up on their development for this reason. It’s also cost prohibitive, but partly state subsidized.

This leaves us with having a TFMR or bringing to term a future child that would be affected. In her short life, we are fairly certain that the condition did not cause any physical distress (as confirmed by the medical team). Our daughter had touched many around her and terminating a pregnancy feels to us like it’s taking that away with a future child. Although as I’ve learned, it’s a decision that will need to be made when faced with the decision and we’re not totally ruling it out.

We have been looking into perinatal hospice care which may be available in our area for these cases should a space be available at that time… very unsure Has anyone been in this situation and considered this option?

We’re truly at lost and it’s understandably always on our mind, to the point that it is almost paralyzing.

I was hoping someone would please help me understand.

If someone has 2 copies of an autosomal recessive variant (the variant is considered pathogenic)and the person is “predicted affected” by the dna test, can they still not have the disorder?

I am a 25 year old female who was born with ARPKD only affecting my right kidney. Through treatment, my right kidney eventually atrophied and now cannot be found within my body on diagnostic imaging. From research I’ve done, I cannot find anything about people who have had the same situation happen who are now adults. My left kidney never developed cysts, and my function has always been normal. I am nervous for the future, always thinking something is going to go wrong with my remaining kidney, even though I’ve lived well beyond when the affected kidney was causing concern.

The only known is this:

The woman has a specific disease. The disease is autosomal recessive.

She marries her first cousin.

What is their chances that their baby will have the disease?

Those are the only known parts of this question

My professor told me to assume that non blood relatives don’t have the disease.

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Since it’s not X linked, the gender of the parents don’t matter as much.

I’m trying to wrap my head around it. The grandparents of the mother could be carriers or affected.

If one grandparent was affected and another was a carrier, then the parents of the mother and parents of the first cousin is 1/2 carriers and 1/2 affected.

So 1/2 chance that the first cousin is a carrier. The first cousin and the mother also have a 1/2 chance of passing it to the baby.

So 1/2* 1/2 = 1/4?

But if the one of the grandparents were homozygous for the disease and the other grandparent was unaffected, would the chances be 1/8?

The chances the grandparents passed it down to the parent would be zero, but all children will be carriers. The carrier children will grow up to be carriers parents. The carrier parent will marry another carrier to produce the diseased woman in this question.

The diseased woman would marry her first cousin who is a carrier.

1/2*1/2*1/2 = 1/8?

So which is it?

Or do I multiple them together?

1/4*1/8?

Hello Reddit Kidney Disease Members, just reaching out because I have discovered my two year old son has PKD. Absolutely frightened and shocked - it almost feels like I am grieving following a death. No doubt there are many many others living or newly diagnosed with PKD who I want to send my love to. Carers and parents no doubt also feel this same sense of stress, sadness and fear who I also send my love and best wishes to. I am sure in time everyone learns to cope with their new normal and try to appreciate everyday, but no doubt there are bumps along the road. Any advice or stories you may wish to share for your own benefit or that of mine would be greatly appreciated. Beat wishes, James

Can anyone share mnemonic for autosomal recessive and dominant disorders.

Specifically it's Dihydrolipoamide dehydrogenase (LADH, E3) deficiency.

Is it true to say that since this is an enzyme and a person needs to have 2 functional copies of the enzyme to be normally function (metabolically), than half of the amount may result in some symptomes?

Thank you

I was wondering if someone could quickly clear this up for me as someone taking on genetics as a hobby - can autosomal dominant disorders in families theoretically disappear from families once the latest child shows negative while recessive can have more chances to persist longer albeit as carriers? Is it possible for both to simply "die out" from bloodlines?

I was reading Biochemistry from First Aid and noticed that apart from the list of Autosomal Dominant, Recessive and X-Linked Disorders given under the Genetics section, there are many enzyme deficiency diseases for which the inheritance pattern is mentioned (AD/AR/XLR)

Is it necessary to memorize the inheritance patterns for these diseases also or is it sufficient to know the diseases in the list under the Genetics section?

Thanks in advance

I can’t find an explanation on google. It’s just statements

An NBME Q states a patient is Ashkenazi and and has a disease with an incidence in the Ashkenazi population of 1/900.

I know 1/900 is typically probably not considered "rare" but in this case, aren't rare AR diseases seen more frequently in that population due to "founder's effect"?

I cannot (for the life of me) find any scientific papers on this. I figure that Morgan maybe found this out at some time , but I cannot find any sources for this. I’ve searched google for “vestigial wing drosophilia genetics” and things like that, and also in my school’s library database for scientific papers, and even JSTOR and nada. Does anyone know of a paper, or the discovery of this gene? I can find papers about Morgan experimenting with vestigial/black bodied flies, but not just vestigial wings.

I have done the classic fly genetics project for a bio class, and I could really use this to talk about in my paper. I could ask my teacher but considering he said today that Mendel was alive in the 1500s (but he lived in the 1800s by an easy google search?) I don’t think he will be able to help much.

Basically the title is the short story.

The longer story is that someone in my family has unfortunately found out the hard way (along with their partner) that they're carriers of an AR variant for a rather awful condition.

23andMe doesn't have much for this, but since I've already done submitted it myself, I'd be curious to know if I can use the raw data with another service that might give me more information about this or other disease.

I know next to nothing about the other services (free or paid) so don't be shy on the basics or details.

Thanks in advance!

The only known is this:

The woman has a specific disease. The disease is autosomal recessive.

She marries her first cousin.

What is their chances that their baby will have the disease?

Those are the only known parts of this question

My professor told me to assume that non blood relatives don’t have the disease.

===========

Since it’s not X linked, the gender of the parents don’t matter as much.

I’m trying to wrap my head around it. The grandparents of the mother could be carriers or affected.

If one grandparent was affected and another was a carrier, then the parents of the mother and parents of the first cousin is 1/2 carriers and 1/2 affected.

So 1/2 chance that the first cousin is a carrier. The first cousin and the mother also have a 1/2 chance of passing it to the baby.

So 1/2* 1/2 = 1/4?

But if the one of the grandparents were homozygous for the disease and the other grandparent was unaffected, would the chances be 1/8?

The chances the grandparents passed it down to the parent would be zero, but all children will be carriers. The carrier children will grow up to be carriers parents. The carrier parent will marry another carrier to produce the diseased woman in this question.

The diseased woman would marry her first cousin who is a carrier.

1/2*1/2*1/2 = 1/8?

So which is it?

Or do I multiple them together?

1/4*1/8?

Please share mnemonic for autosomal dominant and recessive disorders