Fragile X premutation screening in women with premature ovarian failure
Open Access
- 1 May 1998
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Reproduction
- Vol. 13 (5) , 1184-1187
- https://doi.org/10.1093/humrep/13.5.1184
Abstract
We have screened 132 women with premature ovarian failure for fragile X (FRAXA) premutations. Three out of 23 (13%) pedigrees with the familial premature ovarian failure and 3/106 (3%) of women with the sporadic form of premature ovarian failure have FRAXA premutations compared with an expected prevalence of 1:590 (P=0.02). The mechanism of the association between FRAXA premutations and premature ovarian failure is unknown but as a genetic marker, FRAXA screening will be particularly valuable in predicting premature ovarian failure in some pedigrees and in the identification of families at risk of transmitting fragile X syndrome.Keywords
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