Korean J Obstet Gynecol.  2003 May;46(5):978-983.

Fragile X Premutation in Patients with Idiopathic Premature Ovarian Failure

Affiliations
  • 1Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Korea.
  • 2Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, Korea.
  • 3Maria Infertility Hospital, Korea.
  • 4Department of Obstetrics and Gynecology, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 5Department of Obstetrics and Gynecology, Pusan National University College of Medicine, Pusan, Korea.
  • 6Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea.
  • 7Department of Obstetrics and Gynecology, Chonbuk National University College of Medicine, Chonju, Korea.

Abstract


OBJECTIVE
To explore the incidence of fragile X premutation in patients with idiopathic premature ovarian failure, particularly in the Korean population. DESIGN: A prospective study.
MATERIALS AND METHODS
Eighty-three women affected by idiopathic premature ovarian failure were recruited for this study. Patient with known causes of premature ovarian failure were excluded: cytogenetic abnormalities, prior chemotherapy, prior bilateral oophorectomy. DNA was extracted from peripheral blood. Fragile X (FRAXA) premutation was evaluated by PCR amplification of and Southern blot analysis for FMR1 gene.
RESULTS
The FRAXA premutation was detected in three (3.6%) out of 83 patients with idiopathic premature ovarian failure.
CONCLUSION
This result suggests that fragile X premutation screening is indicated in patients with idiopathic premature ovarian failure, particularly in the Korean population.

Keyword

Premature ovarian failure; Fragile X syndrome; Premutation; Carrier

MeSH Terms

Blotting, Southern
Chromosome Aberrations
DNA
Drug Therapy
Female
Fragile X Syndrome
Humans
Incidence
Mass Screening
Ovariectomy
Polymerase Chain Reaction
Primary Ovarian Insufficiency*
Prospective Studies
DNA
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