摘要目的:探讨 FMR1基因(CGG)n重复数与卵巢储备功能不全(diminished ovarian reserve，DOR)发病的相关性，为患者提供遗传咨询和生育指导。 方法:采集214例DOR患者的外周血样，提取DNA。用PCR扩增结合毛细管电泳测定患者及部分家系成员 FMR1基因的(CGG)n重复数。 结果:共发现3例患者携带前突变，1例携带灰区突变。经遗传咨询，1例前突变携带者和另1例患者的妹妹(亦携带前突变)均已自然妊娠。产前诊断显示胎儿均为携带者。结论:FMR1基因(CGG)n重复数异常是DOR的重要原因。对DOR患者进行 FMR1基因(CGG)n重复数检测能够为患者的临床治疗、遗传咨询和生育指导提供依据。

abstractsObjective:To explore the correlation between fragile X mental retardation gene-1 ( FMR1) gene CGG repeats with diminished ovarian reserve (DOR). Methods:For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis. Results:Three DOR patients were found to carry FMR1 premutations, and one patient was found to carry gray zone FMR1 repeats. After genetic counseling, one patient and the sister of another patient, both carrying FMR1 permutations, conceived naturally. Prenatal diagnosis showed that both fetuses have carried FMR1 permutations. Conclusion:FMR1 gene permutation may be associated with DOR. Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction.