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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 genetic diagnosis of children with spinal muscular atrophy (CSMA). Methods The genetic diagnosis of motor neuron survival (SMN) gene in 7 CSMA children was analyzed by PCR-restriction analysis. Results The PCR products of exon 7 and exon 8 of SMN gene in 7 CSMA children were digested with Dra I and Dde I. Only 16 5 bp and 12 5 bp fragments remained in 6 cases, showing SMN gene 7 and 8 Exon only missing; 1 case only 16 5 bp fragment, showing the absence of exon 7 of the SMN gene. Conclusion The detection of exon 7 and exon 8 of SMN gene by PCR-restriction enzyme digestion can be used as a reliable method for gene diagnosis of children with spinal muscular atrophy.