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Korean Journal of Obstetrics & Gynecology 2003;46(5):978-983.
Published online May 1, 2003.
Fragile X Premutation in Patients with Idiopathic Premature Ovarian Failure.
Chang Young Hur, Young Min Choi, Sung Hyo Park, Byung Koo Yoon, Kyu Sup Lee, Yong Jin Na, Byung Seok Lee, Cheul Hee Rheu, Hwa Jin Lee, Hye Won Seol, Sun Kyung Oh, Seung Yup Ku, Chang Suk Suh, Seok Hyun Kim, Jung Gu Kim, Shin Yong Moon
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.
Key Words: Premature ovarian failure, Fragile X syndrome, Premutation, Carrier


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