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目的 对中国人面肩肱型肌营养不良症进行基因诊断。方法 用 Eco R 以及 Eco R / Bln 消化基因组 DNA,0 .6 %琼脂糖凝胶电泳 ,P13E11探针进行 Southern印迹杂交。结果 患者所得 Eco R +Bln / P13E11DNA片段长度在 15～ 33kb之间 ,而正常对照在 41kb以上。发现两个症状前患者。结论 以 P13E11探针通过 Southern印迹杂交探测 Eco R / Bln 双酶消化的基因组 DNA可对中国人绝大部分面肩肱型肌营养不良症进行基因诊断 ,并可进行症状前诊断。
Objective To carry out genetic diagnosis of Chinese facial muscular shoulder dystrophy. Methods Southern blot hybridization was performed with Eco R and Eco R / Bln digestion of genomic DNA, 0.6% agarose gel electrophoresis, and P13E11 probe. Results The length of the Eco R + Bln / P13E11 DNA fragment was between 15 and 33kb, while the normal control was above 41kb. Two patients were found before the symptoms. Conclusion Detection of the genomic DNA digested with Eco R / Bln by Southern blot hybridization using the P13E11 probe can be used to genotype most of the Chinese patients with facial and shoulder muscular dystrophy and to make a presymptomatic diagnosis.