面肩肱型肌营养不良症基因诊断

目的 观察面肩肱型肌营养不良症(facioscapulohumeral muscular dystrophy，FSHD)患者p13E—11标记的4q35 EcoR Ⅰ／B1n Ⅰ片段分子量变化特点，对FSHD进行基因诊断。方法 提取基因组DNA，EcoR Ⅰ／B1n Ⅰ双酶切后进行脉冲凝胶电泳，用同位素标记的探针p13E—11进行Southern印迹，以小于38kb为诊断FSHD标准，观察4q35 EcoR Ⅰ／B1n Ⅰ片段分子量大小的分布。结果 FSHD组26例患者中，20例4q35 EcoR Ⅰ／B1n Ⅰ片段小于38kb，基因诊断阳性率为76．92％。FSHD亲属组12例，其中两例该片段小于38kb。对照组21人，该片段均大于38kb。结论 以小于38kb为诊断标准较满意，FSHD基因诊断阳性率与文献基本吻合。

Gene diagnosis of facioscapulohumeral muscular dystrophy

OBJECTIVE: To observe the characteristics of changes of p13E-11 labelled 4q35 EcoRI fragments and to make a gene diagnosis of facioscapulohumeral muscular dystrophy(FSHD). METHODS: Genomic DNA was extracted and was digested by EcoR I /Bln I. After pulsed field gel electrophoresis, it was hybridized with probe p13E-11 by Southern blot. The illness was diagnosed as FSHD when the 4q35 EcoRI fragment was smaller than 38 kb. RESULTS: In 26 cases of FSHD, the fragments of 20 cases were smaller than 38 kb. The positive rate was 76.92%. In 12 cases of FSHD family members, the fragments of 2 cases were smaller than 38 kb. All fragments of the 21 controls were greater than 38 kb. CONCLUSION: It was rather good to use <38 kb as a standard for diagnosis of FSHD. The positive rate of FSHD was similar to that from the references.