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Human Reproduction, Vol 13, 1184-1187, Copyright © 1998 by Oxford University Press

ARTICLES

Fragile X premutation screening in women with premature ovarian failure

GS Conway, NN Payne, J Webb, A Murray and PA Jacobs
Department of Medicine, University College London, UK.

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.
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