title: A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  FMR1 gene premutation is a common genetic cause of POI.
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, 9 Sobieskiego Street, 02-957 Warsaw, Poland. rajkiewi@ipin.edu.pl
authors.forename: Marta
authors.initials: M
authors.lastname: Rajkiewicz
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Szlendak-Sauer
authors.forename: Anna
authors.initials: A
authors.lastname: Sulek
authors.forename: Sylwia
authors.initials: S
authors.lastname: Gawlik-Zawislak
authors.forename: Wioletta
authors.initials: W
authors.lastname: Krysa
authors.forename: Stanislaw
authors.initials: S
authors.lastname: Radowicki
authors.forename: Jacek
authors.initials: J
authors.lastname: Zaremba
mesh_terms: D000293:Adolescent; D000328:Adult; D001773:Blood Cells; D041321:Chromosomes, Human, X / Q000235:genetics; D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics / Q000503:physiopathology; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011044:Poland; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D011795:Surveys and Questionnaires; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human