کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2811698 | 1569285 | 2008 | 7 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure](/preview/png/2811698.png)
Premature Ovarian Failure (POF) is a genetically heterogenous disorder that leads to hypergonadotropic ovarian failure and infertility. We screened 100 Chinese women with POF for mutations in the oocyte-specific gene FIGLA and identified three variants in four women: missense mutation c.11C → A (p.A4E) was found in two women; deletion c. 15–36 del (p.G6fsX66), resulting in a frameshift that leads to haploinsufficiency, was found in one woman; and deletion c.419–421 delACA (p.140 delN) was found in one. Functional analyses by the yeast two-hybrid assay demonstrated that the p.140 delN mutation disrupted FIGLA binding to the TCF3 helix-loop-helix (HLH) domain. Our findings show that a subset of Chinese women with sporadic, premature ovarian failure harbor mutations in FIGLA.
Journal: - Volume 82, Issue 6, 6 June 2008, Pages 1342–1348