羊水细胞培养进行脊肌萎缩症的产前诊断

Prenatal diagnosis of spinal muscular atrophy based on amniotic fluid cells culturing

目的 应用错配聚合酶链反应 -限制性片断长度多态性 (PCR -RFLP)方法进行脊肌萎缩症 (spinalmuscularatrophy ,SMA)的产前诊断。方法 基于运动神经元生存基因 (SMN)的两个同源拷贝碱基的差异 ,通过羊水细胞培养 ,应用错配PCR -RFLP法对 2例有SMA阳性家族史的胎儿进行产前基因诊断。结果 2例均无SMN基因外显子缺失。结论 SMN基因缺失检测技术是高效、快速的SMA产前诊断的方法。

Objective To study the diagnostic value of mis-matching polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for spinal muscular atrophy (SMA).?Methods Prenatal examination for SMA was performed in 2 fetuses with SMA family history by using the technique of PCR-RFLP based on the difference between the two homologous copies of survival motor neuron gene (SMN).?Results No deletion of SMN exogenote was found in the two cases, ruling out the diagnosis of SMA. The result was confirmed by the normal conditions of the one baby soon born after the test.?Conclusion Detecting the deletion of SMN is an efficient and rapid method of prenatal diagnosis for SMA.