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Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia.
- Source :
-
Fertility and sterility [Fertil Steril] 2011 Jun 30; Vol. 95 (8), pp. 2703-6. Date of Electronic Publication: 2011 Apr 02. - Publication Year :
- 2011
-
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.<br /> (Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- 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
Female
Finland
Genetic Predisposition to Disease
Humans
Kidney abnormalities
Mullerian Ducts abnormalities
Phenotype
Polymerase Chain Reaction methods
RNA, Long Noncoding
Somites abnormalities
Spine abnormalities
Uterus abnormalities
Vagina abnormalities
DNA Methylation
Genomic Imprinting
RNA, Untranslated genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1556-5653
- Volume :
- 95
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Fertility and sterility
- Publication Type :
- Academic Journal
- Accession number :
- 21458801
- Full Text :
- https://doi.org/10.1016/j.fertnstert.2011.03.019