Ye Yuqin, Lan Xiaoping, Cong Jin, Li Na, Wu Yiming, Zhang Min, Liu Jiayin, Cui Yugui, Wu Bai-Lin, An Yu, Wu Jie
State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, China.
Institutes of Biomedical Science and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai 200032, China.
Reprod Biomed Online. 2014 Sep;29(3):382-7. doi: 10.1016/j.rbmo.2014.05.004. Epub 2014 May 15.
Excessive triple CGG repeats in the FMR1 gene have been widely associated with premature ovarian failure. The number of AGG interruptions and length of uninterrupted CGG repeats have been correlated with repeat instability on transmission. In this study, FMR1 CGG repeats and AGG interruption status were determined by triplet-primed PCR in 117 premature ovarian failure patients and 82 matched controls. A possible relationship between CGG repeats or AGG interruption and serum FSH concentrations in patients and controls was evaluated. One patient had a premutation allele (73 repeats) (1/117), while no such mutations were observed in controls (0/82). Other patients and all controls had CGG repeats in the normal range. There was no significant difference in the incidence of intermediate mutations of CGG repeats between patients and controls and no relationship between CGG repeats with serum FSH concentrations. Interestingly, more individuals with premature ovarian failure carried no AGG interruptions than the controls (4.27% versus 1.83%) but statistical significance was not reached. This small case-control study failed to find associations between CGG repeat sizes or AGG interruptions in FMR1 and premature ovarian failure in Chinese women. Further study with large sample size is warranted.
FMR1基因中过量的三联体CGG重复序列已被广泛认为与卵巢早衰有关。AGG中断的数量和不间断CGG重复序列的长度与传递过程中的重复序列不稳定性相关。在本研究中，通过三联体引物PCR对117例卵巢早衰患者和82例匹配对照进行FMR1 CGG重复序列和AGG中断状态检测。评估患者和对照中CGG重复序列或AGG中断与血清FSH浓度之间的可能关系。1例患者有前突变等位基因（73次重复）（1/117），而对照中未观察到此类突变（0/82）。其他患者和所有对照的CGG重复序列均在正常范围内。患者和对照之间CGG重复序列中间突变的发生率无显著差异，CGG重复序列与血清FSH浓度之间也无关联。有趣的是，卵巢早衰患者中无AGG中断的个体比对照更多（4.27%对1.83%），但未达到统计学意义。这项小型病例对照研究未能发现FMR1中CGG重复序列大小或AGG中断与中国女性卵巢早衰之间的关联。有必要进行更大样本量的进一步研究。
