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