Growth differentiating factor-9 mutations may be associated with premature ovarian failure
Growth differentiating factor-9 mutations may be associated with premature ovarian failure
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DOI：
10.1016/j.fertnstert.2006.05.079
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发表时间：
2007-01-01
影响因子：
6.7
通讯作者：
Carson, Sandra A.
中科院分区：
文献类型：
--
作者：
Kovanci, Ertug;Rohozinski, Jan;Carson, Sandra A.
目的：探讨生长分化因子-9(GDF9)基因突变与卵巢早衰(POF)的关系。设计：对61例POF患者进行GDF9基因突变分析。地点：学术机构。患者(S)：61例POF患者；干预(S)：采集外周血，基因组DNA提取，突变，筛查，DNA测序。主要结果(S)：与POF相关的GDF9基因突变。结果(S)：在一名22岁发生POF的白人女性中发现GDF9外显子1胞嘧啶残基的单一错义、突变和替换。该突变发生在一个高度保守的原蛋白区域，并导致103位的非极性氨基酸(脯氨酸)被极性氨基酸(丝氨酸)取代。无论是60名对照组女性还是60名患有POF的女性都没有表现出这种遗传扰动。结论(S)：GDF9基因突变可能是POF的一种解释，但并不常见。
Objective: To determine whether perturbations of the growth differentiating factor-9 (GDF9) gene are associated with premature ovarian failure (POF).Design: Mutational analysis of the GDF9 gene in 61 women with POF.Setting: Academic institution.Patient(s): Sixty-one women with POF; 60 control women.Intervention(s): Peripheral blood sampling, genomic DNA extraction, mutational, screening, and DNA sequencing.Main Outcome Measure(s): Genetic perturbations in GDF9 that are associated with, POF.Result(S): A single missense, mutation, substitution of a cytosine residue with thymidine in exon I of GDF9, was found in a white woman in whom POF developed at age 22. This mutation occured in a highly conserved proprotein region and resulted in replacement of a nonpolar amino acid (proline) With:a polar amino acid (serine) at position 103. Neither 60 control women nor 60 other women with POF demonstrated this genetic perturbation. Exon 2 showed only previously recognized single nucleotide polymorphisms.Conclusion(s): GDF9 mutations may be one explanation for POF, albeit uncommon.