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Fertil Steril. 2011 Jun 30;95(8):2703-6. doi: 10.1016/j.fertnstert.2011.03.019. Epub 2011 Apr 2.

Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia.

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Folkhälsan Institute of Genetics, Biomedicum Helsinki, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland.


Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian aplasia (MA). Site-specific methylation analyses of H19 ICR1 by quantitative real-time polymerase chain reaction in 80 clinically well-diagnosed Finnish MA patients showed no association between hypomethylation and the MA phenotype, but studies of the H19 locus in 38 patients showed aberrant methylation in 3/16 studied sites.

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