FSH receptor gene variants are rarely associated with premature ovarian failure

被引：28

作者：

Woad, Kathryn J. ^{[1
]}

Prendergast, Deborah ^{[2
]}

Winship, Ingrid M. ^{[3
]}

Shelling, Andrew N. ^{[2
]}

机构：

[1] Univ Auckland, Discipline Oncol, Auckland 1023, New Zealand

[2] Univ Auckland, Dept Obstet & Gynaecol, Auckland 1023, New Zealand

[3] Univ Melbourne, Royal Melbourne Hosp, Parkville, Vic 3050, Australia

来源：

REPRODUCTIVE BIOMEDICINE ONLINE | 2013年 / 26卷 / 04期

关键词：

FSHR; mutation; ovarian failure; POF; Polymorphism; STIMULATING-HORMONE RECEPTOR; MUTATION; WOMEN; POLYMORPHISMS; PHENOTYPE;

D O I：

10.1016/j.rbmo.2013.01.004

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

FSH receptor (FSHR) gene variants have been associated with premature ovarian failure (POF). Genomic DNA from New Zealand women with POF (n = 80) and control women (n = 80) was screened for variants in FSHR exons 7 and 10. FSHR exon 7 variants, including the c.566C>T Finnish founder mutation (p.Ala189Val), were not detected. Previously reported FSHR exon 10 polymorphisms were identified in both groups with similar allelic distributions. A novel heterozygous FSHR exon 10 variant c.1411A>T, p.Ile471Phe was observed in one woman with a family history of POF, but not her affected siblings. It is concluded that variants in exons 7 and 10 of FSHR are not frequently associated with the development of POF in the New Zealand population. (C) 2013, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

引用

页码：396 / 399

页数：4

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