Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure

被引：78

作者：

Zhao, Han

Qin, Yingying

Kovanci, Ertug

Simpson, Joe Leigh

Chen, Zi-Jiang ^{[1
]}

Rajkovic, Aleksandar

机构：

[1] Shandong Univ, Shandong Prov Hosp, Ctr Reprod Med, Jinan 250021, Peoples R China

[2] Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

FERTILITY AND STERILITY | 2007年 / 88卷 / 05期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/j.fertnstert.2007.01.021

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

We screened growth differentiation factor 9 coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure and discovered four novel single-nucleotide polymorphisms: c.436C>T (p.Arg146Cys), c.588A>C (silent), c.712A>G (p.Thr238Ala), and c.1283G>C (p.Ser428Thr). Nonsynonymous single-nucleotide polymorphisms c.436C>T and c. 1283G>C were also detected in the control population. The c.712A>G perturbation results in a missense mutation (p.Thr238Ala) and was not present in any of 96 controls. Substitution of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt growth differentiation factor 9 function.

引用

收藏

页码：1474 / 1476

页数：3

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