摘要
目的 探讨脊髓性肌萎缩症基因诊断方法。方法 应用PCR -酶切分析法对 2例SMA患儿进行运动神经元生存基因 (SMN)的基因诊断分析。结果 2例患儿SMN基因第 7,8外显子PCR产物经DraI、DdeI酶切后 ,仅剩下 16 5bp与12 5bp片断 ,显示为SMN基因 7号、8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脊肌萎缩症的可靠基因诊断方法。
Objective: The aim of this study was to establish a gene diagnostic method for SMA. Methods: Exon 7,8 in survival motor neuron (SMN) gene analysis was performed by PCR and restriction enzyme in 2 patients and their parents. Results: The PCR products of two patients' SMN exon 7, 8 were digested by DraI and DdeI, only remained 165bp and 125bp fragments, and showed they lacked SMN exon 7, 8. Conclusion: The detection of exon 7, 8 in SMN gene is a simple and reliable method for diagnosis of SMA.
出处
《中国优生与遗传杂志》
2003年第3期29-29,28,共2页
Chinese Journal of Birth Health & Heredity
