Screening for mutations of the FOXO4 gene in premature ovarian failure patients

被引：6

作者：

Janeth Fonseca, Dora ^{[1
,2
]}

Garzon, Eliana ^{[1
]}

Lakhal, Besma ^{[3
]}

Braham, Rim ^{[4
]}

Ojeda, Diego ^{[1
]}

Elghezal, Hatem ^{[3
]}

Saad, Ali ^{[3
]}

Martin Restrepo, Carlos ^{[1
,2
]}

Laissue, Paul ^{[1
,2
]}

机构：

[1] Univ Rosario, Escuela Med & Ciencias Salud, Unidad Genet, Bogota, Colombia

[2] Genet Mol Colombia, Dept Fertilidad Humana, Bogota, Colombia

[3] Farhat Hached Univ, Teaching Hosp, Dept Cytogenet & Reprod Biol, Sousse, Tunisia

[4] Farhat Hached Univ, Teaching Hosp, Dept Endocrinol, Sousse, Tunisia

来源：

REPRODUCTIVE BIOMEDICINE ONLINE | 2012年 / 24卷 / 03期

关键词：

female infertility; FOXO4; premature ovarian failure; FORKHEAD TRANSCRIPTION FACTORS; FACTOR FOXL2; EXPRESSION; ACTIVATION; WOMEN; MICE;

D O I：

10.1016/j.rbmo.2011.11.017

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups. (C) 2011, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

引用

页码：339 / 341

页数：3

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