Qin Yingying, Shi Yuhua, Zhao Yueran, Carson Sandra Ann, Simpson Joe Leigh, Chen Zi-Jiang
Center for Reproductive Medicine, Shandong Provincial Hospital affiliated to Shandong University, Jinan, People's Republic of China.
Fertil Steril. 2009 Apr;91(4 Suppl):1507-9. doi: 10.1016/j.fertnstert.2008.08.020. Epub 2008 Oct 17.
The newborn ovary homeobox gene (NOBOX) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis, thus representing an attractive candidate gene for nonsyndromic ovarian failure. We investigated whether perturbation in the homeodomain region of NOBOX was present in Chinese women with premature ovarian failure (POF). We sequenced 200 Chinese patients with POF, and discovered only two known single nucleotide polymorphisms: in intron 6 (c.1154+11 T>C and c.1155-22 G>A); neither offers plausible explanations for POF. Failing to find causative mutation contrasts with our previous study in a caucasian sample, in which we found plausible homeobox mutation in 1 of 96 POF cases. Mutations in the homeobox domain of NOBOX are not common explanations for POF in Chinese women.
新生儿卵巢同源框基因（NOBOX）是一种卵母细胞特异性同源框基因，在早期卵泡发生过程中起关键作用，因此是散发性卵巢功能不全的一个有吸引力的候选基因。我们研究了中国卵巢早衰（POF）女性中NOBOX同源结构域区域是否存在扰动。我们对200例中国POF患者进行了测序，仅发现两个已知的单核苷酸多态性：位于内含子6中（c.1154 +11 T>C和c.1155 -22 G>A）；两者均无法为POF提供合理的解释。未发现致病突变与我们之前对白种人样本的研究形成对比，在该研究中我们在96例POF病例中的1例中发现了合理的同源框突变。NOBOX同源结构域中的突变并非中国女性POF的常见原因。
