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Kaplan Qbank USMLE



Author5 Posts
  #1

genomic imprinting---prader willi from dad ,,angelman from mom...but in RELF ,,how can we predict which one is present?

anyone explain?????????where inactivation or methylation is occuring???????????????


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  #2

how methylation work here???


Edited by reet on 09/09/05 - 05:49 PM

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  #3

Reet....i am confused...could you may be rephrase the question?From what i know prader willi syndrome is due to a deletion in the paternal chromosome 15...while angel man syndrome is the result of a deletion in the maternal chr 15.

  #4

cyra,, its ok 15 chromosome deletion but how can we tell its from mom or dad?wht actually they perform to know the facts?

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  #5

methylation patterns detected by southern blot or by PCR using DNA primers that can detect methyalted cytosine...

to diagnose if it's due to uniparental disomy, u use markers from both chr 15 of both parents and detect presence in the patient

FISH if deletion of 15q suspected


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