卵巢早衰中LHX8突变的分析
Analysis of LHX8 mutation in premature ovarian failure.
作者信息
Qin Yingying, Zhao Han, Kovanci Ertug, Simpson Joe Leigh, Chen Zi-Jiang, Rajkovic Aleksandar
机构信息
Center for Reproductive Medicine, Shandong Provincial Hospital of Shandong University, Jinan, China.
出版信息
Fertil Steril. 2008 Apr;89(4):1012-4. doi: 10.1016/j.fertnstert.2007.04.017. Epub 2007 Jul 10.
Abstract
The LHX8 (LIM homeobox 8) gene encodes a LIM homeodomain transcriptional regulator that is preferentially expressed in germ cells and critical for mammalian oogenesis. The authors investigated whether nucleotide changes were present in the LHX8 gene of Caucasian women with premature ovarian failure (POF), as compared with control women. When the authors sequenced 95 Caucasian women with POF, they discovered two novel single-nucleotide polymorphisms (SNPs) in intron 3 (c.769+10G>T) and 3' untranslated region (c.1787A>G) of the LHX8 gene. These polymorphisms also were found in controls (n = 94), at frequencies that were not statistically different from those in POF women. Mutations in the LHX8 exons are uncommon in Caucasian women with POF.
摘要
LHX8（LIM同源盒8）基因编码一种LIM同源结构域转录调节因子，该因子在生殖细胞中优先表达，对哺乳动物卵子发生至关重要。作者调查了与对照女性相比，卵巢早衰（POF）的白人女性的LHX8基因中是否存在核苷酸变化。当作者对95名患有POF的白人女性进行测序时，他们在LHX8基因的内含子3（c.769 + 10G>T）和3'非翻译区（c.1787A>G）中发现了两个新的单核苷酸多态性（SNP）。在对照组（n = 94）中也发现了这些多态性，其频率与POF女性中的频率无统计学差异。LHX8外显子中的突变在患有POF的白人女性中并不常见。
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