Document Detail

A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.
MedLine Citation:
PMID:  21276648     Owner:  NLM     Status:  Publisher    
OBJECTIVE: The aim of this study was to determine the prevalence of premutations in the FMR1 gene that cause primary ovarian insufficiency (POI) in a group of affected women. STUDY DESIGN: Forty DNA samples were purified from peripheral blood collected from women with ovarian failure who were under 40 years of age. A routine cytogenetic test was performed to eliminate chromosomal aberrations as the cause of POI. The DNA was analysed by polymerase chain reaction (PCR) with primers specific to the FMR1 gene region. The PCR products were then separated in denaturing polyacrylamide gels using an ABI Prism 377 sequencer. RESULTS: Cytogenetic analysis of the samples revealed two X/autosome translocations. DNA analysis identified FMR1 gene premutations in three patients. The frequency of X/autosome translocations in the studied group was 2/40 (5.0%), and the frequency of FMR1 gene premutations was 3/38 cases (7.9%). Thus, genetic tests allowed for the identification of POI in five (12.5%) out of 40 women. CONCLUSION: FMR1 gene premutation is a common genetic cause of POI.
Marta Rajkiewicz; Katarzyna Szlendak-Sauer; Anna Sulek; Sylwia Gawlik-Zawislak; Wioletta Krysa; Stanislaw Radowicki; Jacek Zaremba
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-1-26
Journal Detail:
Title:  European journal of obstetrics, gynecology, and reproductive biology     Volume:  -     ISSN:  1872-7654     ISO Abbreviation:  -     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-1-31     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375672     Medline TA:  Eur J Obstet Gynecol Reprod Biol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
Department of Genetics, Institute of Psychiatry and Neurology, 9 Sobieskiego Street, 02-957 Warsaw, Poland.
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