A sensitive functional assay reveals frequent loss of genomic imprinting in human placenta.

ABSTRACT: Loss of imprinting (LOI) is the gain of expression from the silent allele of an imprinted gene normally expressed from only one parental copy. LOI has been associated with neurodevelopmental disorders and reproductive abnormalities. The mechanisms of imprinting are varied, with DNA methylation representing only one. We have developed a functional transcriptional assay for LOI that is not limited to a single mechanism of imprinting. The method employs allele-specific PCR analysis of RT-PCR products containing common readout polymorphisms. With this method, we are able to measure LOI at the sensitivity of 1%. The method has been applied to measurement of LOI in human placentas. We found that RNA was stable in placentas stored for more than one hour at 4 degrees C following delivery. We analy

SUBMITTER: Lambertini L 

PROVIDER: S-EPMC2714257 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature