面肩肱型肌营养不良症的基因诊断

Gene diagnosis of facioscapulohumeral muscular dystrophy

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 Perform gene diagnosis for Chinese facioscapulohumeral muscular dystrophy(FSHD). Methods Digest genome DNA with restriction enzymes EcoR I only and EcoR I associated with Bln I. Use 0.6% agarose gel electrophoresis and Southern blotting hybridization with probe P13E11. Results For FSHD patients, the sizes of EcoR I + Bln I /P13E11 DNA fragments ranged from 15kb to 33kb. For normal controls, they were over 41kb. Two presymptomatic patients were found. Conclusion It is feasible to perform gene diagnosis and presymptomatic diagnosis for most Chinese FSHD patients by Southern blotting hybridization with probe P13E11, following double digestion of genome DNA with restriction enzymes EcoR I and Bln I.