Abstract
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.
Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
46, XX Disorders of Sex Development / diagnosis
-
46, XX Disorders of Sex Development / genetics
-
Abnormalities, Multiple / diagnosis
-
Abnormalities, Multiple / genetics
-
Case-Control Studies
-
Congenital Abnormalities / diagnosis
-
Congenital Abnormalities / genetics
-
CpG Islands
-
DNA Methylation*
-
Female
-
Finland
-
Genetic Predisposition to Disease
-
Genomic Imprinting*
-
Humans
-
Kidney / abnormalities
-
Mullerian Ducts / abnormalities
-
Phenotype
-
Polymerase Chain Reaction / methods
-
RNA, Long Noncoding
-
RNA, Untranslated / genetics*
-
Somites / abnormalities
-
Spine / abnormalities
-
Uterus / abnormalities
-
Vagina / abnormalities
Substances
-
H19 long non-coding RNA
-
RNA, Long Noncoding
-
RNA, Untranslated