应用PCR-限制性内切酶技术快速诊断脊肌萎缩患儿的SMN基因缺失

Rapid Detection of SMN Gene Deletion in the Spinal Musculer Atrophy by Polymerase Chain Reaction and Restriction Enzyme Digest

目的：检测脊肌萎缩患儿ＳＭＮ基因第７外显子缺失。方法：应用聚合酶链式反应（ＰＣＲ）结合限制性内切酶技术检测ＳＭＮ基因第７外显子。结果：４例典型ＳＭＡ患儿有ＳＭＮ基因第７外显子缺失，１例临床疑诊病例没有该外显子缺失。结论：该检测方法快速、简便、价廉、安全、准确，可作为快速筛查脊肌萎缩患儿的基因诊断和产前基因诊断的方法。

Objective:The purpose of this paper was to examine the deletion of SMN exon 7 in spinal muscular atrophy (SMA).Methods:SMN gene was studied in 5 cases by Dra I restriction enzyme digest after PCR amplification of exon 7.Results:Four typical patients showed mutation of deletion in the exon 7 of SMN gene. One atypical patient had no mutation.Conclusion:PCR amplification with Dra I restriction enzyme digest was rapid, simple, convenient, inexpensive and safe. It could be used as a reliable approach for prenatal and DNA diagnosis of SMA.