Fragile X premutation screening in women with premature ovarian failure

被引：139

作者：

Conway, GS

Payne, NN

Webb, J

Murray, A

Jacobs, PA

机构：

[1] UCL, Div Endocrinol, Dept Med, London, England

[2] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England

来源：

HUMAN REPRODUCTION | 1998年 / 13卷 / 05期

基金：

英国惠康基金;

关键词：

fragile X syndrome; FRAXA; premature ovarian failure;

D O I：

10.1093/humrep/13.5.1184

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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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收藏

页码：1184 / 1187

页数：4

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