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Examination of reproductive aging milestones among women who carry the FMR1premutation
Author(s) -
Emily G. Allen,
Amy K. Sullivan,
Michele Marcus,
Chanley M. Small,
Celia E. Dominguez,
Michael P. Epstein,
Krista Charen,
Weiya He,
Kira C. Taylor,
Stephanie L. Sherman
Publication year - 2007
Publication title -
human reproduction
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.446
H-Index - 226
eISSN - 1460-2350
pISSN - 0268-1161
DOI - 10.1093/humrep/dem148
Subject(s) - premature ovarian insufficiency , premature ovarian failure , fmr1 , biology , genetics , oocyte , ovarian reserve , physiology , allele , medicine , infertility , pregnancy , endocrinology , gene , embryo
The fragile X premutation is characterized by a large CGG repeat track (55-199 repeats) in the 5' UTR of the FMR1 gene. This X-linked mutation leads to an increased risk for premature ovarian failure; interestingly, the association of repeat size with risk is non-linear. We hypothesize that the premutation-associated ovarian insufficiency is due to a diminished oocyte pool and examined reproductive aging milestones by repeat size group to determine if the same non-linear association is observed.

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