Korean J Obstet Gynecol.
2003 May;46(5):978-983.
Fragile X Premutation in Patients with Idiopathic Premature Ovarian Failure
- Affiliations
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- 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.
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