摘要
目的 探讨成年起病的脊肌萎缩症 (SMA)患者的运动神经元存活基因SMN的缺失情况。方法 用聚合酶链反应 酶切技术对 15例SMA病人及 3 3例正常对照的外显子 7进行检测 ,明确有无缺失。结果 3例SMA的SMN基因外显子 7纯合缺失 ,其余 12例和对照组均阴性。结论 SMN基因外显子 7缺失可作为成年起病SMA的辅助诊断 。
Objective To study survival motor neuron (SMN) deletion in adult onset patients with spinal muscular atrophy (SMA).Methods Exon 7 of SMN was detected in 15 cases with SMA and 33 cases of normal control with polymerase chain reaction restriction enzyme digestion analysis.Results Homozyous deletion of exon 7 occurred in 3 case with SMA, while negative result were in the other.Conclusion Genetic heterogeneity of SMA among those cases with adult onset beyond age 30 could not be ruled out.
出处
《铁道医学》
2001年第1期20-22,共3页
Railway Medical Journal