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脆性X前突变是卵巢早衰的一个重要风险因素：脆性X国际卵巢早衰协作研究——初步数据。

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

作者信息

Allingham-Hawkins D J, Babul-Hirji R, Chitayat D, Holden J J, Yang K T, Lee C, Hudson R, Gorwill H, Nolin S L, Glicksman A, Jenkins E C, Brown W T, Howard-Peebles P N, Becchi C, Cummings E, Fallon L, Seitz S, Black S H, Vianna-Morgante A M, Costa S S, Otto P A, Mingroni-Netto R C, Murray A, Webb J, Vieri F

出版信息

Am J Med Genet. 1999 Apr 2;83(4):322-5.

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3728646/

Abstract

The preliminary results of an international collaborative study examining premature menopause in fragile X carriers are presented. A total of 760 women from fragile X families was surveyed about their fragile X carrier status and their menstrual and reproductive histories. Among the subjects, 395 carried a premutation, 128 carried a full mutation, and 237 were noncarriers. Sixty-three (16%) of the premutation carriers had experienced menopause prior to the age of 40 compared with none of the full mutation carriers and one (0.4%) of the controls. Based on these preliminary data, there is a significant association between fragile X premutation carrier status and premature menopause.

摘要

本文展示了一项关于脆性X染色体携带者过早绝经的国际合作研究的初步结果。对来自脆性X染色体相关家族的760名女性进行了调查，询问她们的脆性X染色体携带者状态以及月经和生殖史。在这些受试者中，395人携带前突变，128人携带全突变，237人是非携带者。63名（16%）前突变携带者在40岁之前经历了绝经，而全突变携带者中无人在40岁之前绝经，对照组中只有1人（0.4%）在40岁之前绝经。基于这些初步数据，脆性X染色体前突变携带者状态与过早绝经之间存在显著关联。