Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction.
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.
Syrrou
M
M
Laboratory of General Biology, Medical School, University of Ioannina, Greece.
Georgiou
I
I
Patsalis
P C
PC
Bouba
I
I
Adonakis
G
G
Pagoulatos
G N
GN
D000328:Adult; D000483:Alleles; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010049:Ovarian Diseases / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011960:Receptors, Estrogen / Q000235:genetics*
D011960:Receptors, Estrogen