Imprinting and Uniparental Disomy for the USMLE Step 1

Imprinting and Uniparental Disomy for the USMLE Step 1, beautifully distilled.
In this video we demystify the two complicated genetic terms: imprinting and uniparental disomy. We cover the clinical significance of these terms and how they can cause Prader-Willi syndrome and Angelman syndrome. We wrap up the video with a couple of high-yield questions to solidify the information.
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[@telatti]

the best video on uniparental disomy i've found! thank you so much :)

[@physeo-USMLE]

Thanks for the support! We're glad you like it!

[@telatti]

@@physeo-USMLE thank you for helping me learn :)
struggling med student from czech republic

[@physeo-USMLE]

@@telatti You've got this!

[@vineshmanohar2060]

Can’t get any clearer than this. Thank u so much :)

[@physeo-USMLE]

❤😎

[@riflemusket]

OK. For proper cytogenetic nomenclature, 15q11 is read as "Fifteen-Q-One-One", not "Fifteen-Q-Eleven". Same with 15q13 -> Fifteen-Q-One-Three.

[@faiziiiiii]

love you, just in the first 2 minutes you explained what I've been trying to understand for years. I am beyond greatful for this! Thank you again!

[@azadbharath7444]

In a RFLP related question -boy has symptoms of praderw ,means paternal deletion,means at the time of fertilitzn incompatible trisomy caused by incoming spem,so incoming paternal gene chr deleted,is that so is only possible by maternal disomy by nondisjunction M-1#opt-a???&M-2,means is aspermatogenes view na ,so paternal disomy -un compatible trisomy by incoming maternal ova.

[@saul3965]

Spectacular, Im reading over this for my medical genetics and the book did not make it easier.

[@ashozy1003]

Excellent video which is underrated.. I'm not a native speaker or from US, but sir I loved your video it's very helpful. Thank you !

[@phantasmalphasmidzoo8280]

So if an embryo has a deletion of the pws gene of the male side, can you avoid Prader Willi by demethylating the pws gene on the female side??

[@benjaminazumah9833]

No because unlike histone methylation, DNA (cystine) methylation is almost always irreversible.

[@Alexandra-sd4yy]

My colleagues need to know about this channel! Thank you for the beautiful teaching!

[@workation6663]

thank you so much)))) u helped a lot

[@pallaviguha9354]

Thank you so much! I was having such a hard time understanding uniparental disomy😭!

[@DazeOpYT]

In your question about Prader Willi Syndrome, it's also likely that the father underwent a mutation in the imprinting gene which causes the methylation of the paternal PWS-gene and thus the wrong imprinting pattern. Just a side note, your video explains it very well :D

[@chocolatecharley99]

Is everyone's paternal gene silenced because of imprinting in that section of chromosome 15 that causes angelman syndrome? (I'm asking if every typical person has this imprinting for angelman syndrome and vice versa maternally for PWS) I'm getting confused while writing a report

[@DazeOpYT]

@@chocolatecharley99 Not necessarely, there can also be a misstep in the meiotic splicing of the cell which causes the child having to maternal copies.

[@chocolatecharley99]

@@DazeOpYT But the reason these maternal copies don't do anything and causes Prader-willie syndrome is because it is imprinted (silenced) and there is no gene expression, right?

[@chocolatecharley99]

@@DazeOpYT I'm wondering if you and I both have our maternal genes imprinted on PWS on chromosome 15

[@pawandeepkour544]

Best video on Imprinting and Uniparental disomy I have come across.👌🏼

[@oviyagnanasekaran2756]

How exactly does the cell loose a chromosome during fertilisation?

[@cakuh8900]

in Germany we dont say "good video" we say: "geiles Video Bruder, du bist ein geisteskranker Ehrenmann", and i think thats beautiful.

[@mandyads]

5:47 for heterodisomy vs. isodisomy

[@abijeyarajan2173]

Very clear explanation on imprinting. Thank you 😊

[@batol5361]

You are such a legend. Thank you helped a lot truly! Keep up the good work!🥰

[@sadmanchowdhury9823]

Incredible well explained. God bless you!!

[@markmegaly1626]

Awesome Content! Keep it up. Thank you

[@saadsohail9379]

cant thanks enough........ May Allah blessed u

[@arzofaqiri-aksoy6857]

thanks a lot, best explanation ever

[@divyeshkhatri2538]

Excellent explanation 😋😋😋😋

[@juliaaysenurturkozeaston]

Thank you so much 😊

[@maryamhani7725]

Nice presentation

[@zainab_abd3776]

مرحبا
ممكن أعرف اذا كنت بدرس دروس خصوصية لمواد المجموعة الطبية
؟؟؟

[@crichighlights2612]

Nice explanation bro! Couldn’t understand the concept in other channel videos.✌️

[@amiramadhi2074]

Best video on uniparental disomy thank u so much 🌸

[@Alexandra-sd4yy]

so is it a problem if it is heterodisomy? the cromosomes are different, one from grandpa and one from grandma, right???

[@GermanHeul]

Amazing thx 💗

[@umerkhan7545]

Very nicely done

[@faizanshahzad8598]

Awesome vid with a clear explanation, Kudos 2 u :)))

[@jared394]

Killed it!

[@muntehakhatun7783]

Thanks👍

[@Sparrow6_]

That’s a very good explanation 🤝🤝

[@DoctorKlenk]

4:35 B is just as likely

[@femidaelettil1002]

Thanks a lot

[@jesiraj2448]

It is a clear explanation, but please do not say q eleven instead it is q one- one ...

[@jrh1677]

Wow

[@Salopovpaz]

Thank you very much. God bless you 🙏

[@arnebshaikh]

😍😍👍🏻👍🏻

[@nesrinech3967]

you made it so easy to understand , thanks a lot.

[@opoppo6413]

the best I found on UA-cam I think

[@salehFayoumi]

thanks a ton , many many thanks

[@physeo-USMLE]

❤

[@namrtasharma335]

best video, appreciate ur work

[@studiesaura]

This is lit 🔥 Thank you so much.

[@ibraheemalma]

beautiful
thank you sir

[@lotfiadj5896]

much love from algeria

[@ivangrishin8547]

Perfect explanation

[@Robertson284]

awesome. thanks a lot

[@iw16n17]

thank you so much

[@revanthsurapaneni6258]

Thank you man!

[@cubba20]

amazing video

[@mellowdoctor9029]

Boss of the bosses

[@burns1606]

great video!

[@manuelgoncalves9753]

great video

[@ishanisingh862]

Thank you 😊

[@rawanaimat2367]

thanks a lot

[@drswekcharanjan7481]

Really good

[@ahlamal-bloshi9656]

THANK YOU

[@jenniferjdaidani1397]

THANK YOU

[@mellowdoctor9029]

❤️