Document Detail


Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia.
MedLine Citation:
PMID:  21458801     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Maria Sandbacka; Sara Bruce; Mervi Halttunen; Minna Puhakka; Päivi Lahermo; Katariina Hannula-Jouppi; Marita Lipsanen-Nyman; Juha Kere; Kristiina Aittomäki; Hannele Laivuori
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-04-02
Journal Detail:
Title:  Fertility and sterility     Volume:  95     ISSN:  1556-5653     ISO Abbreviation:  Fertil. Steril.     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-06-27     Completed Date:  2011-08-26     Revised Date:  2011-10-07    
Medline Journal Info:
Nlm Unique ID:  0372772     Medline TA:  Fertil Steril     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2703-6     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Affiliation:
Folkhälsan Institute of Genetics, Biomedicum Helsinki, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland. maria.sandbacka@helsinki.fi
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MeSH Terms
Descriptor/Qualifier:
46, XX Disorders of Sex Development / diagnosis,  genetics
Abnormalities, Multiple / diagnosis,  genetics
Case-Control Studies
Congenital Abnormalities / diagnosis,  genetics
CpG Islands
DNA Methylation*
Female
Finland
Genetic Predisposition to Disease
Genomic Imprinting*
Humans
Mullerian Ducts / abnormalities
Phenotype
Polymerase Chain Reaction / methods
RNA, Untranslated / genetics*
Uterus / abnormalities
Vagina / abnormalities
Chemical
Reg. No./Substance:
0/H19 long non-coding RNA; 0/RNA, Untranslated

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