Fragile X Premutation in Patients with Idiopathic Premature Ovarian Failure.
- Author:
Chang Young HUR
1
;
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
Author Information
1. Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Korea.
- Publication Type:Original Article
- Keywords:
Premature ovarian failure;
Fragile X syndrome;
Premutation;
Carrier
- MeSH:
Blotting, Southern;
Chromosome Aberrations;
DNA;
Drug Therapy;
Female;
Fragile X Syndrome;
Humans;
Incidence;
Mass Screening;
Ovariectomy;
Polymerase Chain Reaction;
Primary Ovarian Insufficiency*;
Prospective Studies
- From:Korean Journal of Obstetrics and Gynecology
2003;46(5):978-983
- CountryRepublic of Korea
- Language:Korean
-
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.
