论文部分内容阅读
目的:探讨脊肌萎缩症的基因诊断方法。方法:基于运动神经元生存基因的2个同源拷贝碱基上的差异,应用PCR-酶切和等位基因特异性PCR对8例脊肌萎缩症患者与其直系亲属及10例正常对照者对照进行脊肌萎缩症基因第7外显子缺失检测。结果:PCR-酶切和等位基因特异性PCR均显示8例脊肌萎缩症患者运动神经元生存基因第7号外显子缺失,正常对照组及患者亲属未发现缺失。结论:PCR-酶切结合等位基因特异性PCR是可靠的运动神经元生存基因缺失检测方法,提高了脊肌萎缩症基因诊断的准确性。
Objective: To explore the genetic diagnosis of spinal muscular atrophy. Methods: Based on the difference of two homologous copies of motoneuron survival genes, PCR-restriction analysis and allele-specific PCR were used to compare 8 cases of patients with spinal muscular atrophy with their immediate family members and 10 normal controls Spinal muscle atrophy gene exon 7 deletion detection. Results: Exon 7 exon 7 of motor neuron survival gene in 8 patients with spinal muscular atrophy was found by PCR-PCR and allele-specific PCR, but no deletion was found in normal control group and relatives of patients. Conclusion: PCR-enzyme digestion combined with allele-specific PCR is a reliable detection method of gene deletion in motor neurons and improves the accuracy of genetic diagnosis of spinal muscular atrophy.