Sunday, April 12, 2009

Parent-of-origin deletion and uniparental disomy

A deletion and uniparental disomy have the
same functional result, i.e., loss of the genetic
activity of one parental allele. The frequency of
a deletion is about the same for PWS and AS
(70% each), whereas the frequency of UPD
differs considerably: 29% in PWS, 1% in AS.

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