Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction
โ Scribed by Syrrou, Maria; Georgiou, Ioannis; Patsalis, Philippos C.; Bouba, Ioanna; Adonakis, George; Pagoulatos, Gerassimos N.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 9 KB
- Volume
- 84
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990528)84:3<306::aid-ajmg29>3.0.co;2-i
No coin nor oath required. For personal study only.
โฆ Synopsis
We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen receptor gene: a) poor responders to ovarian stimulation as part of in vitro fertilization (n = 13); b) women with familial premature ovarian failure (POF) (n = 7); c) sporadic cases with POF (n = 16); d) FRAXA premutation carriers with POF (n = 7); and e) FRAXA premutation carriers without POF (n = 9). FRAXA premutation was found in one woman with familial POF. A significant association of familial POF and FRAXA premutation carriers with POF having low copy of the (TA)n polymorphism as compared to controls was observed. Our preliminary data suggest a potential role of the estrogen receptor in POF, and it may influence the variable age of menopause of the FRAXA premutation carriers.
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