Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.
Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.
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DOI：
10.1016/j.fertnstert.2007.01.021
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发表时间：
2007-11
影响因子：
6.7
通讯作者：
Han Zhao;Y. Qin;E. Kovanci;J. Simpson;Zi-jiang Chen;A. Rajkovic
中科院分区：
文献类型：
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作者：
Han Zhao;Y. Qin;E. Kovanci;J. Simpson;Zi-jiang Chen;A. Rajkovic
我们对100例卵巢早衰（POF）患者的生长分化因子9（GDF9）基因编码区进行了突变筛查，发现了4个新的SNPs：c.436C>T（p.Arg146Cys）、c.588A>C（silent）、c.712A>G（p.Thr238Ala）和c.1283G>C（p.Ser428Thr）。在对照人群中也检测到非同义SNPs c.436C>T和c.1283G>C。c.712A>G扰动导致错义突变（p.Thr238Ala），并且在96个对照中的任何一个中不存在。疏水氨基酸残基丙氨酸取代亲水苏氨酸可破坏GDF9功能。
We screened growth differentiation factor 9 (GDF9) coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure (POF) and discovered 4 novel SNPs: c.436C>T (p.Arg146Cys), c.588A>C (silent), c.712A>G (p.Thr238Ala) and c.1283G>C (p.Ser428Thr). Non-synonymous SNPs 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 GDF9 function.