成年起病脊肌萎缩症SMN基因外显子7缺失的初探

Preliminary study on survival motor neuron gene deletion of exon 7 in adult onset patients with spinal muscular atrophy

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.