摘要
目的 探讨儿童型脊肌萎缩症 (CSMA)的基因诊断方法。方法 应用 PCR-酶切分析法对 7例CSMA患儿进行运动神经元生存 (SMN)基因的基因诊断分析。结果 7例 CSMA患儿 SMN基因 7号、8号外显子 PCR产物经 Dra I、Dde I酶切后 ,6例仅剩下 16 5 bp与 12 5 bp片段 ,表现有 SMN基因 7号、8号外显子缺失 ;1例仅剩下 16 5 bp片段 ,表现有 SMN基因 7号外显子缺失。结论 PCR-酶切检测 SMN基因 7号、8号外显子缺失可作为儿童型脊肌萎缩症的可靠的基因诊断方法。
Objective To investigate the gene diagnosis of childhood onset spinal muscular atrophy(CSMA). Methods PCR enzyme digestion was used to perform the survival motor neuron (SMN) genetic diagnosis of 7 patients with CSMA.Results PCR produ cts of the SMN gene exon 7 and exon 8 in 7 patients with CSMA were digested by DraI,DdeI enzyme,in which 6 patients left only 165 bp and 125 bp,they all showed the deletion of SMN gene exon 7 and exon 8;another patient left only 165 bp that showed the deletion of SMN gene exon 7.Conclusion The deletion of SMN gene exon 7 and exon 8 examined by PCR enzyme digestion could be recommended as an accurate gene diagnostic method for CSMA.
出处
《临床神经病学杂志》
CAS
2000年第2期84-85,共2页
Journal of Clinical Neurology
